PHEX

Summary

Gene Symbol: PHEX
Description: phosphate regulating endopeptidase homolog, X-linked
Alias: HPDR, HPDR1, HYP, HYP1, LXHR, PEX, XLH, X-linked hypophosphatemia protein, metalloendopeptidase homolog PEX, phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets), phosphate-regulating neutral endopeptidase, vitamin D-resistant hypophosphatemic rickets protein
Species: human

Top Publications

  1. ncbi Regulation of fibroblastic growth factor 23 expression but not degradation by PHEX
    Shiguang Liu
    Department of Medicine, Center for Bone and Mineral Disorders, Duke University Medical Center, Durham, North Carolina 27710, USA
    J Biol Chem 278:37419-26. 2003
  2. ncbi Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues
    D Filisetti
    Institut de Genetique et de Biologie Moleculaire et Cellulaire, CNRS, INSERM, ULP, Illkirch, France
    Eur J Hum Genet 7:615-9. 1999
  3. ncbi 1,25-dihydroxyvitamin D3 down-regulation of PHEX gene expression is mediated by apparent repression of a 110 kDa transfactor that binds to a polyadenine element in the promoter
    Eric R Hines
    Department of Pediatrics, College of Medicine, Steele Memorial Children s Research Center, University of Arizona, Tucson, Arizona 85724, USA
    J Biol Chem 279:46406-14. 2004
  4. pmc Genetic diagnosis of X-linked dominant Hypophosphatemic Rickets in a cohort study: tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type
    Marcos Morey
    Fundacion Publica Galega de Medicina Xenomica, Santiago de Compostela, Spain
    BMC Med Genet 12:116. 2011
  5. ncbi PHEX expression in parathyroid gland and parathyroid hormone dysregulation in X-linked hypophosphatemia
    T D Blydt-Hansen
    Department of Pediatrics, McGill University, Montreal Children s Hospital Research Institute, Montreal, Quebec, Canada H3H 1P3
    Pediatr Nephrol 13:607-11. 1999
  6. doi Familial hypophosphatemic rickets caused by a large deletion in PHEX gene
    Tasuku Saito
    Division of Pediatrics, Department of Medicine, University of Tokyo Hospital, Tokyo 113 8655, Japan
    Eur J Endocrinol 161:647-51. 2009
  7. ncbi Mutational analysis of the PHEX gene: novel point mutations and detection of large deletions by MLPA in patients with X-linked hypophosphatemic rickets
    S Clausmeyer
    Endocrine Practice Prof Raue, Heidelberg, Germany
    Calcif Tissue Int 85:211-20. 2009
  8. pmc Pex/PEX tissue distribution and evidence for a deletion in the 3' region of the Pex gene in X-linked hypophosphatemic mice
    L Beck
    Department of Pediatrics, McGill University Montreal Children s Hospital Research Institute, Quebec, Canada
    J Clin Invest 99:1200-9. 1997
  9. ncbi Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets
    K Sato
    Department of Pediatrics, Hokkaido University School of Medicine, N15, W7, Kita ku, Sapporo, Japan 060 8638
    Pediatr Res 48:536-40. 2000
  10. ncbi Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets
    I A Holm
    Division of Endocrinology, Department of Medicine, Children s Hospital, Boston, Massachusetts 02115, USA
    J Clin Endocrinol Metab 86:3889-99. 2001

Detail Information

Publications176 found, 100 shown here

  1. ncbi Regulation of fibroblastic growth factor 23 expression but not degradation by PHEX
    Shiguang Liu
    Department of Medicine, Center for Bone and Mineral Disorders, Duke University Medical Center, Durham, North Carolina 27710, USA
    J Biol Chem 278:37419-26. 2003
    Inactivating mutations of Phex cause X-linked hypophosphatemia (XLH) by increasing levels of a circulating phosphaturic factor. FGF23 is a candidate for this phosphaturic factor...
  2. ncbi Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues
    D Filisetti
    Institut de Genetique et de Biologie Moleculaire et Cellulaire, CNRS, INSERM, ULP, Illkirch, France
    Eur J Hum Genet 7:615-9. 1999
    Thirty newly detected mutations in the PHEX gene are reported, and pooled with all the previously published mutations...
  3. ncbi 1,25-dihydroxyvitamin D3 down-regulation of PHEX gene expression is mediated by apparent repression of a 110 kDa transfactor that binds to a polyadenine element in the promoter
    Eric R Hines
    Department of Pediatrics, College of Medicine, Steele Memorial Children s Research Center, University of Arizona, Tucson, Arizona 85724, USA
    J Biol Chem 279:46406-14. 2004
    The PHEX gene encodes an endopeptidase expressed in osteoblasts that inactivates an uncharacterized peptide hormone, phosphatonin, which suppresses bone mineralization as well as renal phosphate reabsorption and vitamin D bioactivation...
  4. pmc Genetic diagnosis of X-linked dominant Hypophosphatemic Rickets in a cohort study: tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type
    Marcos Morey
    Fundacion Publica Galega de Medicina Xenomica, Santiago de Compostela, Spain
    BMC Med Genet 12:116. 2011
    ..The most common form of HR is X-linked dominant HR (XLHR) which is caused by inactivating mutations in the PHEX gene...
  5. ncbi PHEX expression in parathyroid gland and parathyroid hormone dysregulation in X-linked hypophosphatemia
    T D Blydt-Hansen
    Department of Pediatrics, McGill University, Montreal Children s Hospital Research Institute, Montreal, Quebec, Canada H3H 1P3
    Pediatr Nephrol 13:607-11. 1999
    ..XLH), a renal phosphate (Pi) wasting disorder with defective bone mineralization, is caused by mutations in the PHEX gene (a Pi-regulating gene with homology to endopeptidases on the X chromosome)...
  6. doi Familial hypophosphatemic rickets caused by a large deletion in PHEX gene
    Tasuku Saito
    Division of Pediatrics, Department of Medicine, University of Tokyo Hospital, Tokyo 113 8655, Japan
    Eur J Endocrinol 161:647-51. 2009
    ..These diseases are caused by mutations in phosphate regulating endopeptidase homolog, X-linked (PHEX), FGF23, and dentin matrix acidic phosphoprotein 1 (DMP1) gene respectively...
  7. ncbi Mutational analysis of the PHEX gene: novel point mutations and detection of large deletions by MLPA in patients with X-linked hypophosphatemic rickets
    S Clausmeyer
    Endocrine Practice Prof Raue, Heidelberg, Germany
    Calcif Tissue Int 85:211-20. 2009
    ..The purpose of our study was the detection of inactivating mutations in the PHEX gene, the key enzyme in the pathogenesis of XLH...
  8. pmc Pex/PEX tissue distribution and evidence for a deletion in the 3' region of the Pex gene in X-linked hypophosphatemic mice
    L Beck
    Department of Pediatrics, McGill University Montreal Children s Hospital Research Institute, Quebec, Canada
    J Clin Invest 99:1200-9. 1997
    b>PEX, a phosphate-regulating gene with homology to endopeptidases on the X chromosome, was recently identified as the candidate gene for X-linked hypophosphatemia...
  9. ncbi Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets
    K Sato
    Department of Pediatrics, Hokkaido University School of Medicine, N15, W7, Kita ku, Sapporo, Japan 060 8638
    Pediatr Res 48:536-40. 2000
    ..The phosphate-regulating gene on the X-chromosome (PHEX) that is defective in XLH has been cloned, and its location identified at Xp22.1...
  10. ncbi Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets
    I A Holm
    Division of Endocrinology, Department of Medicine, Children s Hospital, Boston, Massachusetts 02115, USA
    J Clin Endocrinol Metab 86:3889-99. 2001
    b>PHEX is the gene defective in X-linked hypophosphatemic rickets. In this study, analysis of PHEX revealed mutations in 22 hypophosphatemic rickets patients, including 16 of 28 patients in whom all 22 PHEX exons were studied...
  11. ncbi Disease-causing missense mutations in the PHEX gene interfere with membrane targeting of the recombinant protein
    Y Sabbagh
    Department of Biology, McGill University, Montreal, Quebec, Canada
    Hum Mol Genet 10:1539-46. 2001
    b>PHEX is homologous to the M13 zinc metallopeptidases, a class of type II membrane glycoproteins...
  12. ncbi Cloning of human PEX cDNA. Expression, subcellular localization, and endopeptidase activity
    M L Lipman
    Division of Nephrology, Department of Medicine, and Lady Davis Institute for Medical Research, McGill University, 3755 Cote Ste Catherine Road, Montreal H3T 1E2, Canada
    J Biol Chem 273:13729-37. 1998
    Mutations in the PEX gene are responsible for X-linked hypophosphatemic rickets...
  13. ncbi A PHEX gene mutation is responsible for adult-onset vitamin D-resistant hypophosphatemic osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatemic rickets
    M J Econs
    Department of Medicine, Indiana University, Indianapolis 46202, USA
    J Clin Endocrinol Metab 83:3459-62. 1998
    ..We recently identified a gene, PHEX, that is responsible for the disorder X-linked hypophosphatemic rickets...
  14. ncbi Structure and function of disease-causing missense mutations in the PHEX gene
    Yves Sabbagh
    Department of Biology, McGill University, and the McGill University Montreal Children s Hospital Research Institute, Montreal, Quebec, Canada H3Z 2Z3
    J Clin Endocrinol Metab 88:2213-22. 2003
    The PHEX gene that is mutated in patients with X-linked hypophosphatemia (XLH) encodes a protein homologous to the M13 family of zinc metallopeptidases...
  15. ncbi Somatic and germline mosaicism for a mutation of the PHEX gene can lead to genetic transmission of X-linked hypophosphatemic rickets that mimics an autosomal dominant trait
    Katsumi Goji
    Department of Endocrinology and Metabolism, Kobe Children s Hospital, 1 1 1 Takakuradai, Suma ku, Kobe 654 0081, Japan
    J Clin Endocrinol Metab 91:365-70. 2006
    ..Genetic studies of these disorders have identified mutations in PHEX and FGF23 as the causes of X-linked dominant disorder and autosomal dominant forms, respectively.
  16. pmc Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets
    Shoji Ichikawa
    Department of Medicine, Indiana University School of Medicine, 541 North Clinical Drive, Indianapolis, IN 46202, USA
    Bone 43:663-6. 2008
    ..XLH is caused by inactivating mutations in PHEX (phosphate-regulating gene with homologies to endopeptidases on the X chromosome)...
  17. doi Normal growth and muscle dysfunction in X-linked hypophosphatemic rickets associated with a novel mutation in the PHEX gene
    Polyzois Makras
    Department of Endocrinology and Metabolic Diseases, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands
    J Clin Endocrinol Metab 93:1386-9. 2008
    X-linked hypophosphatemic rickets (XLH) is characterized by hypophosphatemia and growth retardation. Early diagnosis and treatment improve growth.
  18. ncbi Genetic advances, biochemical and clinical features and critical approach to treatment of patients with X-linked hypophosphatemic rickets
    Giampiero Igli Baroncelli
    Endocrine Unit, Division of Pediatrics, Department of Reproductive Medicine and Pediatrics, University of Pisa, Via Roma, Italy
    Pediatr Endocrinol Rev 1:361-79. 2004
    ..XLH is caused by mutations in the PHEX (phosphate regulating gene with homology to endopeptidases) gene, which is located on Xp22.1...
  19. pmc PHEX gene mutations and genotype-phenotype analysis of Korean patients with hypophosphatemic rickets
    Hae Ryong Song
    Department of Orthopedic Surgery, Rare Diseases Institute, Korea University Guro Hospital, Seoul, Korea
    J Korean Med Sci 22:981-6. 2007
    X-linked hypophosphatemic rickets (XLH) results from mutations in the PHEX gene...
  20. doi PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets
    Celine Gaucher
    INSERM U561, Hopital Saint Vincent de Paul, 82 avenue Denfert Rochereau, 75014, Paris, France
    Hum Genet 125:401-11. 2009
    ..trait, and mutations on the phosphate regulating gene with homologies to endopeptidases on the X-chromosome (PHEX) gene are responsible for the disease in most familial cases...
  21. ncbi Novel PHEX gene mutations in two Taiwanese patients with hypophosphatemic rickets
    Yen Yin Chou
    Department of Pediatrics, National Cheng Kung University Hospital, Tainan, Taiwan
    J Formos Med Assoc 104:198-202. 2005
    ..The PHEX gene (phosphate regulating gene with homologies to endopeptidases on the X chromosome) encodes a 749-amino acid ..
  22. ncbi FGF23 is processed by proprotein convertases but not by PHEX
    Anna Benet-Pages
    Institute of Human Genetics, GSF National Research Center, 85764 München Neuherberg, Germany
    Bone 35:455-62. 2004
    ..XLH is caused by loss of function mutations in the putative endopeptidase PHEX. It was tempting to speculate that FGF23 is a substrate of PHEX, but studies have been inconclusive so far...
  23. ncbi Mutational analysis of PHEX gene in X-linked hypophosphatemia
    P H Dixon
    Medical Research Council Clinical Sciences Centre, Imperial College School of Medicine, Hammersmith Hospital, London, United Kingdom
    J Clin Endocrinol Metab 83:3615-23. 1998
    ..The XLH gene, referred to as PHEX, or formerly as PEX (phosphate regulating gene with homologies to endopeptidases on the X-chromosome), encodes a ..
  24. ncbi X-linked hypophosphataemia: a homologous disorder in humans and mice
    H S Tenenhouse
    Department of Pediatrics, McGill University, Montreal Children s Hospital Research Institute, Quebec, Canada
    Nephrol Dial Transplant 14:333-41. 1999
    ..mutant gene has been identified in XLH patients, by positional cloning, and in Hyp and Gy mice, and was designated PHEX/Phex to signify a PHosphate-regulating gene with homology to Endopeptidases on the X chromosome...
  25. ncbi Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets
    H Tyynismaa
    Dept Medical Genetics, University of Helsinki, Helsinki, Finland
    Hum Mutat 15:383-4. 2000
    We have carried out a mutation screening of the PHEX gene in Finnish patients with hypophosphatemia...
  26. ncbi A clinical and molecular genetic study of hypophosphatemic rickets in children
    Hee Y Cho
    Department of Pediatrics, Seoul National University Children s Hospital, Seoul 110 744, Korea
    Pediatr Res 58:329-33. 2005
    ..Recently, the molecular bases of HR were elucidated. A review of medical records and mutational analyses of the PHEX and FGF23 genes were performed on 17 unrelated Korean children with HR...
  27. ncbi Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP)
    P S Rowe
    Department of Medicine, University College London, Middlesex Hospital, UK
    Hum Mol Genet 6:539-49. 1997
    Mutations in the PEX gene at Xp22.1 (phosphate-regulating gene with homologies to endopeptidases, on the X-chromosome), are responsible for X-linked hypophosphataemic rickets (HYP)...
  28. doi PHEX, FGF23, DMP1 and beyond
    Tim M Strom
    Institute of Human Genetics, Helmholtz Zentrum Munchen, German Research Center for Environmental Health, Munich Neuherberg, Germany
    Curr Opin Nephrol Hypertens 17:357-62. 2008
    ..In addition, we describe how an improved knowledge of the mechanisms leading to changes in renal phosphate handling may lead to the development of novel therapeutic approaches...
  29. ncbi Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets
    F Francis
    Max Planck Institut fur Molekulare Genetik, Berlin, Germany
    Genome Res 7:573-85. 1997
  30. ncbi Expression and cloning of the human X-linked hypophosphatemia gene cDNA
    M Grieff
    Department of Molecular Microbiology, Washington University School of Medicine, St Louis, Missouri, USA
    Biochem Biophys Res Commun 231:635-9. 1997
    ..disease characterized biochemically by selective renal phosphate (Pi) wasting, is associated with mutations in the PEX (Phosphate-regulating gene with homologies to Endopeptidases on the X-chromosome) gene...
  31. ncbi FGF23, PHEX, and MEPE regulation of phosphate homeostasis and skeletal mineralization
    L Darryl Quarles
    Department of Medicine, Center for Bone and Mineral Disorders, Duke University Medical Center, Durham, North Carolina 27710, USA
    Am J Physiol Endocrinol Metab 285:E1-9. 2003
    ..growth factor 23 (FGF23), a phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX), and a matrix extracellular phosphoglycoprotein (MEPE) that regulates systemic phosphate homeostasis and ..
  32. ncbi Three novel mutations of the PHEX gene in three Chinese families with X-linked dominant hypophosphatemic rickets
    Weibo Xia
    Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, 100730, China
    Calcif Tissue Int 81:415-20. 2007
    ..The gene responsible for XLH was identified by positional cloning and designated PHEX (formerly PEX) to depict a phosphate-regulating gene homologous with endopeptidases on the X chromosome...
  33. ncbi Direct demonstration of a humorally-mediated inhibition of renal phosphate transport in the Hyp mouse
    D Lajeunesse
    Hopital Maisonneuve Rosemont, Montreal, Quebec, Canada
    Kidney Int 50:1531-8. 1996
    The murine Hyp model reproduces the characteristics of human X-linked hypophosphatemia (XLH), an inherited disease causing renal loss of phosphate (Pi), severe rickets and osteomalacia...
  34. ncbi [Molecular analysis of peroxisomal disorders]
    N Shimozawa
    Department of Pediatrics, Gifu University School of Medicine
    No To Hattatsu 30:128-33. 1998
    ..PAF-1 and 2 were identified from CHO mutants and were responsible genes for PBD group F and C. Human PEX 5, 12 and 1, responsible genes for group 2, 3 and 1, respectively, were cloned by homology search between yeast PEX ..
  35. ncbi Craniofacial abnormalities in mice with X-linked hypophosphatemic genes (Hyp or Gy)
    N S Shetty
    Department of Basic Sciences, Marquette University School of Dentistry, Milwaukee, Wisconsin 53233
    Teratology 44:463-72. 1991
    ..Similar mutations occur in mice at the Hyp and Gy gene loci...
  36. ncbi Thiazide diuretics arrest the progression of nephrocalcinosis in children with X-linked hypophosphatemia
    M G Seikaly
    University of Texas Southwestern Medical Center, Dallas, Texas, USA
    Pediatrics 108:E6. 2001
    X-linked hypophosphatemia (XLH) is characterized clinically by rickets, hypophosphatemia, and hyperphosphaturia...
  37. ncbi The glue protein of ribbed mussels (Geukensia demissa): a natural adhesive with some features of collagen
    J H Waite
    Marine Biology Biochemistry Program, College of Marine Studies, University of Delaware, Lewes 19958
    J Comp Physiol B 159:517-25. 1989
    ..Y is variable, but more often than not hydrophobic; and Z is frequently Pro or 4-trans-hydroxyproline (Hyp)...
  38. ncbi Osteocalcin production in primary osteoblast cultures derived from normal and Hyp mice
    T O Carpenter
    Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut 06520 8064, USA
    Endocrinology 139:35-43. 1998
    Rickets and osteomalacia are characteristic features of the Hyp mouse model of human X-linked hypophosphatemia. Hyp mice demonstrate elevated circulating osteocalcin levels, as well as altered regulation of osteocalcin by 1,25(OH)2D3...
  39. pmc Treatment of X-linked hypophosphatemia with calcitriol and phosphate increases circulating fibroblast growth factor 23 concentrations
    Erik A Imel
    Departments of Internal Medicine, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA
    J Clin Endocrinol Metab 95:1846-50. 2010
    ..Mutations in PHEX result in increased fibroblast growth factor 23 (FGF23) expression, elevating circulating FGF23 concentrations...
  40. ncbi Fibroblast growth factor-23 is the phosphaturic factor in tumor-induced osteomalacia and may be phosphatonin
    Seiji Fukumoto
    Department of Laboratory Medicine, University of Tokyo, Tokyo
    Curr Opin Nephrol Hypertens 11:385-9. 2002
    Three hypophosphatemic diseases, X-linked dominant hypophosphatemic rickets/osteomalacia (XLH), autosomal dominant hypophosphatemic rickets/osteomalacia (ADHR) and tumor-induced rickets/osteomalacia (TIO), show very similar clinical ..
  41. pmc ASARM peptides: PHEX-dependent and -independent regulation of serum phosphate
    Valentin David
    University of Tennessee Health Science Center, Memphis, Tennessee, USA
    Am J Physiol Renal Physiol 300:F783-91. 2011
    ..ASARM peptides also bind to phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX) and are a physiological substrate for this bone-expressed, phosphate-regulating enzyme...
  42. ncbi [Effects of reduced glutathione on contents of hydroxyproline and oxidation stress reaction in kidney of unilateral ureteral obstruction in rat]
    Yu Na
    Department of Nephrology, The Fourth Hospital, Jilin University, Changchun, Jilin, China
    Zhongguo Wei Zhong Bing Ji Jiu Yi Xue 19:735-8. 2007
    ..To explore therapeutic effect of glutathione (GSH) on unilateral ureteral obstruction (UUO) induced renal interstitial fibrosis and its mechanism in rat...
  43. ncbi Genetic screening for X-linked hypophosphatemic mice and ontogenic characterization of the defect in the renal sodium-phosphate transporter
    Y L Muller
    Department of Pediatrics, Steele Memorial Children s Research Center, University of Arizona Health Sciences Center, Tucson 85724, USA
    Pediatr Res 44:633-8. 1998
    ..Mutation of the PEX gene has been linked to human and murine Hyp rickets...
  44. ncbi Spermine deficiency in Gy mice caused by deletion of the spermine synthase gene
    B Lorenz
    Abteilung Medizinische Genetik, Kinderpoliklinik, Ludwig Maximilians Universitat, Goethestr 29, 80336 Munchen, Germany
    Hum Mol Genet 7:541-7. 1998
    ..X-linked hypophosphatemic rickets and have been shown to be deleted for the 5' and 3' end of the mouse homolog of PHEX (phosphate regulating gene with homologies to endopeptidases on the X chromosome; formerly called PEX), ..
  45. pmc Cardiovascular and behavioural effects of intracerebroventricularly administered tachykinin NK3 receptor antagonists in the conscious rat
    E Cellier
    Department of Physiology, Faculty of Medicine, , , Canada
    Br J Pharmacol 122:643-54. 1997
    ..pyl)-4-phenylpiperidin-4-yl)-N-methylacetamide), R820 (3-indolylcarbonyl-Hyp-Phg-N(Me)-Bzl) and R486 (H-Asp-Ser-Phe-Trp-beta-Ala-Leu-Met-NH2) were assessed against the intracerebroventricular (..
  46. ncbi Effect of gene dose and parental origin on bone histomorphometry in X-linked Hyp mice
    Z Q Qiu
    Department of Biology, McGill University, Montreal, Quebec H3A 1B1, Canada
    Bone 34:134-9. 2004
    X-linked hypophosphatemia (XLH) is characterized by rickets and osteomalacia and arises from mutations in the Phex and PHEX genes in mice (Hyp) and humans, respectively...
  47. pmc Correction of proximal tubule phosphate transport defect in Hyp mice in vivo and in vitro with indomethacin
    Michel Baum
    Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX 75235 9063, USA
    Proc Natl Acad Sci U S A 100:11098-103. 2003
    ..In the present study, we demonstrate that Hyp mice, which have a mutation homologous to that in patients with X-linked hypophosphatemia, have a 2-fold greater ..
  48. ncbi Partial deletion of both the spermine synthase gene and the Pex gene in the X-linked hypophosphatemic, gyro (Gy) mouse
    R A Meyer
    Department of Orthopaedic Surgery, Carolinas Medical Center, Charlotte, North Carolina 28232 2861, USA
    Genomics 48:289-95. 1998
    Gy, along with Hyp, is a dominant mutation of the normal gene Pex causing X-linked hypophosphatemia in the mouse...
  49. ncbi Distinct roles for intrinsic osteocyte abnormalities and systemic factors in regulation of FGF23 and bone mineralization in Hyp mice
    Shiguang Liu
    The Kidney Institute, University of Kansas Medical Center, Kansas City, Kansas, USA
    Am J Physiol Endocrinol Metab 293:E1636-44. 2007
    ..hypophosphatemia (XLH) is characterized by hypophosphatemia and impaired mineralization caused by mutations of the PHEX endopeptidase (phosphate-regulating gene with homologies to endopeptidases on the X chromosome), which leads to the ..
  50. pmc Homozygous ablation of fibroblast growth factor-23 results in hyperphosphatemia and impaired skeletogenesis, and reverses hypophosphatemia in Phex-deficient mice
    Despina Sitara
    Department of Oral and Developmental Biology, The Forsyth Institute, Harvard School of Dental Medicine, 140 The Fenway, Boston, MA, 02115, USA
    Matrix Biol 23:421-32. 2004
    ..that Fgf-23 is upstream of the phosphate regulating gene with homologies to endopeptidases on the X chromosome (Phex) and that the increased plasma Fgf-23 levels in Hyp mice (and in XLH patients) may be at least partially ..
  51. ncbi Formation of chlorinated disinfection by-products in viticulture
    Jan Bernd Barhorst
    Institute for AgroEcology IfA, RLP AgroScience GmbH, 67435 Neustadt Weinstrasse, Germany
    Environ Sci Pollut Res Int 16:582-9. 2009
    The use of sodium hypochlorite (HYP) in viticulture results in effluents which are contaminated with halogenated substances...
  52. ncbi Effect of dipyridamole on serum and urinary phosphate in X-linked hypophosphatemia
    M G Seikaly
    University of Texas Southwestern Medical Center of Dallas and Texas Scottish Rite Hospital for Children, 75390 9063, USA
    Pediatr Nephrol 15:57-9. 2000
    X-linked hypophosphatemia (XLH) is characterized clinically by rickets, hypophosphatemia and hyperphosphaturia. Conventional treatment of XLH with oral phosphate and vitamin D is associated with hypercalcuria and nephrocalcinosis...
  53. ncbi Increased cathepsin D release by Hyp mouse osteoblast cells
    Naoko Matsumoto
    Medical and Research Services, Greater Los Angeles Veterans Affairs Healthcare System at Sepulveda, CA, USA
    Am J Physiol Endocrinol Metab 289:E123-32. 2005
    ..hypophosphatemia (XLH), the most common form of hereditary rickets, is caused by loss-of-function mutations of PHEX (phosphate-regulating gene with homology to endopeptidases on the X chromosome) leading to rachitic bone disease ..
  54. pmc Calcimimetics as an adjuvant treatment for familial hypophosphatemic rickets
    Uri S Alon
    Pediatric Nephrology, Bone and Mineral Disorders Clinic, Children s Mercy Hospital, University of Missouri, Kansas City, MO 64108, USA
    Clin J Am Soc Nephrol 3:658-64. 2008
    The treatment for X-linked hypophosphatemia (XLH) with phosphate and calcitriol can be complicated by secondary hyperparathyroidism and nephrocalcinosis...
  55. ncbi [Pseudoexfoliation syndrome and phacoemulsification: comparative study with a control population]
    V Sarda
    Service d Ophtalmologie, Hopital Avicenne, faculté Paris XIII, 125, rue de Stalingrad, 93000 Bobigny, France
    J Fr Ophtalmol 33:319-26. 2010
    To determine the outcomes in cataract surgery by phacoemulsification in eyes with pseudoexfoliation syndrome (PEX) compared with eyes without this syndrome and to analyze the clinical features of pseudoexfoliation syndrome.
  56. pmc The changes in various hydroxyproline fractions in aortic tissue of rabbits are closely related to the progression of atherosclerosis
    Mohamed Anwar K Abdelhalim
    Department of Physics and Astronomy, College of Science, King Saud University, Riyadh 11451, Saudi Arabia
    Lipids Health Dis 9:26. 2010
    ..The effects of high fat diet (HFD) on the hydroxyproline (Hyp) fractions in serum and aortic tissues of rabbits and collagen content in the aortic tissues of rabbits have not ..
  57. ncbi Overexpression of Phex in osteoblasts fails to rescue the Hyp mouse phenotype
    Shiguang Liu
    Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710, USA
    J Biol Chem 277:3686-97. 2002
    Inactivating mutations of Phex, a phosphate-regulating endopeptidase, cause hypophosphatemia and impaired mineralization in X-linked hypophosphatemia (XLH) and its mouse homologue, Hyp...
  58. ncbi Effect of mercuric chloride on various hydroxyproline fractions in rat serum
    N J Siddiqi
    Department of Biochemistry, King Saud University, College of Science, Riyadh 11451, Saudi Arabia
    Mol Cell Biochem 271:159-65. 2005
    ..The aim of the present investigation was to study the effect of HgCl2 treatment on various hydroxyproline (Hyp) fractions in rat serum and the effect of 2,3-dimercapto-1-propane sulfonic acid (DMPS) treatment on serum Hyp ..
  59. ncbi Phosphate transport in osteoblasts from normal and X-linked hypophosphatemic mice
    L Rifas
    Division of Bone and Mineral Diseases, Washington University Medical Center, St Louis, Missouri 63110
    Calcif Tissue Int 54:505-10. 1994
    Human hypophophatemic vitamin D-resistant rickets (X-linked hypophosphatemia-XLH) is characterized by hypophosphatemia, a decreased tubular reabsorption of phosphate (P(i)) and defective skeleton mineralization...
  60. ncbi Osteomalacia in hyp mice is associated with abnormal phex expression and with altered bone matrix protein expression and deposition
    D Miao
    Department of Medicine, McGill University, Montreal, Quebec, Canada H3A 1A1
    Endocrinology 142:926-39. 2001
    To explore how the loss of Phex function contributes to the pathogenesis of osteomalacia, we examined the abnormalities of mineralization, Phex, and bone matrix protein expression occurring in Hyp mice in vivo and in ex vivo bone marrow ..
  61. ncbi Regulation of osteoclast differentiation and function by phosphate: potential role of osteoclasts in the skeletal abnormalities in hypophosphatemic conditions
    Tetsuyuki Hayashibara
    Department of Biochemistry, Osaka University Graduate School of Dentistry, Suita, Osaka, Japan
    J Bone Miner Res 22:1743-51. 2007
    Mice fed with a low Pi diet exhibited decreased osteoclast number. Hyp mice also showed decreased osteoclasts, and high Pi reversed it. Low Pi reduced osteoclast formation and bone resorption in vitro...
  62. pmc Inactivation of klotho function induces hyperphosphatemia even in presence of high serum fibroblast growth factor 23 levels in a genetically engineered hypophosphatemic (Hyp) mouse model
    Teruyo Nakatani
    Department of Oral Medicine, Harvard School of Dental Medicine, Room 304, 188 Longwood Ave, Boston, MA 02115, USA
    FASEB J 23:3702-11. 2009
    ..that inactivates the phosphate-regulating gene, which is homologous to the endopeptidases of the X-chromosome (PHEX). The mutation is associated with severe hypophosphatemia due to excessive urinary phosphate wasting...
  63. pmc Phosphorylated acidic serine-aspartate-rich MEPE-associated motif peptide from matrix extracellular phosphoglycoprotein inhibits phosphate regulating gene with homologies to endopeptidases on the X-chromosome enzyme activity
    Shiguang Liu
    The Kidney Institute, University of Kansas Medical Center, MS 3018, Kansas City, KS 66160, USA
    J Endocrinol 192:261-7. 2007
    Inactivating PHEX (phosphate regulating gene with homologies to endopeptidases on the X chromosome) mutations cause X-linked hypophosphatemia in humans and mice (Hyp) through overproduction of fibroblast growth factor 23 (FGF23) a ..
  64. ncbi Multilocus mapping of the X-linked hypophosphatemic rickets gene
    M J Econs
    Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710
    J Clin Endocrinol Metab 75:201-6. 1992
    X-linked hypophosphatemic rickets (HYP), the most common form of familial hypophosphatemic (vitamin D-resistant) rickets, is an X-linked dominant disorder characterized by decreased renal tubular phosphate reabsorption and consequent ..
  65. pmc New intragenic deletions in the Phex gene clarify X-linked hypophosphatemia-related abnormalities in mice
    Bettina Lorenz-Depiereux
    Institute of Human Genetics, GSF National Research Center, München Neuherberg, Germany
    Mamm Genome 15:151-61. 2004
    X-linked hypophosphatemic rickets (XLH) in humans is caused by mutation in the PHEX gene. Previously, three mutations in the mouse Phex gene have been reported: Phex(Hyp), Gy, and Phex(Ska1)...
  66. ncbi Downregulation of osteoblast Phex expression by PTH
    Nathalie Alos
    Genetics Unit, Shriners Hospital, Departments of Surgery and Human Genetics, McGill University, Montreal, Quebec, Canada
    Bone 37:589-98. 2005
    ..This disorder results from mutations in the PHEX/Phex (Phosphate-regulating gene with homologies to endopeptidases on the X chromosome) gene, which is expressed in ..
  67. ncbi Peptide and non-peptide bradykinin B2 receptor agonists and antagonists: a reappraisal of their pharmacology in the guinea-pig ileum
    S Meini
    Pharmacology Department, Menarini Ricerche S p A, via Rismondo 12 A, 50135, Florence, Italy
    Eur J Pharmacol 409:185-94. 2000
    We have compared the pharmacology of different antagonists, Icatibant (H-DArg-Arg-Pro-Hyp-Gly-Thi-Ser-DTic-Oic-Arg-OH), MEN 11270 (H-DArg-Arg-Pro-Hyp-Gly-Thi-c(Dab-DTic-Oic-Arg)c(7 gamma-10 alpha)), and FR173657 ((E)-3-(6-acetamido-3-..
  68. pmc Correction of the mineralization defect in hyp mice treated with protease inhibitors CA074 and pepstatin
    Peter S N Rowe
    Department of Internal Medicine, The Kidney Institute and Division of Nephrology, MS 3018, University of Kansas Medical Center, 3901 Rainbow Boulevard, 6020B Wahl Hall East, Kansas City, KS 66160, USA
    Bone 39:773-86. 2006
    ..of several osteoblastic proteases and MEPE (a bone matrix protein) occurs in X-linked hypophosphatemic rickets (hyp)...
  69. ncbi Pex mRNA is localized in developing mouse osteoblasts and odontoblasts
    A F Ruchon
    Departement de Biochimie, Institut de Recherches Cliniques de Montréal et Département de Médecine, Universite de Montreal, Montreal, Canada
    J Histochem Cytochem 46:459-68. 1998
    Mutations in PEX, a phosphate-regulating gene with homology to endopeptidase on the X chromosome, were recently identified in patients with X-linked hypophosphatemia (XLH), an inherited disorder of phosphate homeostasis characterized by ..
  70. ncbi 1,25-(OH)2D3 down-regulates expression of Phex, a marker of the mature osteoblast
    B Ecarot
    Shriners Hospital, Department of Surgery, McGill University, Montreal, Quebec, Canada
    Endocrinology 140:1192-9. 1999
    Mutations in the PHEX/Phex gene, which encodes for a protein with homology to neutral endopeptidases, are responsible for human and murine X-linked hypophosphatemia...
  71. ncbi Evidence for Phex haploinsufficiency in murine X-linked hypophosphatemia
    L Wang
    Genetics Unit, Shriners Hospital, Departments of Surgery and Human Genetics, McGill University, Montreal, Quebec, Canada H3G 1A6
    Mamm Genome 10:385-9. 1999
    Mutations in the PHEX gene (phosphate-regulating gene with homology to endopeptidases on the X-chromosome) are responsible for X-linked hypophosphatemia (HYP)...
  72. ncbi cDNA cloning of the murine Pex gene implicated in X-linked hypophosphatemia and evidence for expression in bone
    L Du
    Genetics Unit, McGill University, Montreal, Quebec, H3G 1A6, Canada
    Genomics 36:22-8. 1996
    The recently identified human PEX gene apparently encodes for a neutral endopeptidase that is mutated in patients with X-linked hypophosphatemia...
  73. ncbi Extensin: repetitive motifs, functional sites, post-translational codes, and phylogeny
    M J Kieliszewski
    Complex Carbohydrate Research Center, University of Georgia, Athens 30602
    Plant J 5:157-72. 1994
    ..ii) Pro-Hyp-Val-Tyr-Lys and variants (putative intermolecular cross-links, adhesion, cohesion, and possible beta-turns)...
  74. ncbi Phex cDNA cloning from rat bone and studies on phex mRNA expression: tissue-specificity, age-dependency, and regulation by insulin-like growth factor (IGF) I in vivo
    E Zoidis
    Department of Internal Medicine, Division of Endocrinology and Diabetes, University Hospital, CH 8091, Zurich, Switzerland
    Mol Cell Endocrinol 168:41-51. 2000
    Phosphate regulating gene with homology to endopeptidases on the X chromosome (Phex) inactivating mutations cause X-linked hypophosphatemia (XLH)...
  75. ncbi Bone density changes in Paget's disease 2 years after iv pamidronate: profound, sustained increases in pagetic bone with severity-related loss in forearm nonpagetic cortical bone
    D H Gutteridge
    Department of Endocrinology and Diabetes, Sir Charles Gairdner Hospital, Nedlands, 6000 Western Australia, Australia
    Bone 32:56-61. 2003
    ..were treated according to the severity of their disease; the mild category (Group I, hydroxyproline excretion (Hyp(E)) <5.0 micromol/L GF) received 120 mg, the moderate category (Group II, Hyp(E) 5.0-9...
  76. ncbi IGF-I and GH stimulate Phex mRNA expression in lungs and bones and 1,25-dihydroxyvitamin D(3) production in hypophysectomized rats
    Evangelos Zoidis
    Division of Endocrinology and Diabetes, Department of Internal Medicine, University Hospital of Zurich, Ramistrasse 100, CH 8091 Zurich, Switzerland
    Eur J Endocrinol 146:97-105. 2002
    ..a renal phosphate (Pi)-wasting disorder with defective bone mineralization, is caused by mutations in the PHEX gene (a Pi-regulating gene with homology to endopeptidases on the X chromosome)...
  77. ncbi Pathogenic role of Fgf23 in Hyp mice
    Shiguang Liu
    The Kidney Institute, The University of Kansas Medical Center, Kansas City, KS 66160, USA
    Am J Physiol Endocrinol Metab 291:E38-49. 2006
    Inactivating mutations of the PHEX (phosphate-regulating gene with homologies to endopeptidases on the X chromosome) endopeptidase, the disease-causing gene in X-linked hypophosphatemia (XLH), results in increased circulating levels of ..
  78. ncbi Pseudoexfoliation syndrome in eyes with ischemic central retinal vein occlusion. A histopathologic and electron microscopic study
    C Cursiefen
    Department of Ophthalmology, University Erlangen Nurnberg, Schwabachanlage 6, D 91054 Erlangen, Germany
    Acta Ophthalmol Scand 79:476-8. 2001
    To determine histopathologically the prevalence of pseudoexfoliation (PEX) material in eyes enucleated secondary to ischemic central retinal vein occlusion (CRVO) and to evaluate eyes with PEX material in the anterior segment and CRVO ..
  79. doi MEPE-ASARM peptides control extracellular matrix mineralization by binding to hydroxyapatite: an inhibition regulated by PHEX cleavage of ASARM
    William N Addison
    Faculty of Dentistry, McGill University, Montreal, Quebec, Canada
    J Bone Miner Res 23:1638-49. 2008
    ..an inactivating mutation of the phosphate-regulating gene with homologies to endopeptidases on the X-chromosome (Phex) gene have bones with increased matrix extracellular phosphoglycoprotein (MEPE)...
  80. ncbi Therapeutic effects of anti-FGF23 antibodies in hypophosphatemic rickets/osteomalacia
    Yukiko Aono
    Pharmacological Research Laboratories, Kyowa Hakko Kirin, Tokyo, Japan
    J Bone Miner Res 24:1879-88. 2009
    X-linked hypophosphatemia (XLH), characterized by renal phosphate wasting, is the most common cause of vitamin D-resistant rickets...
  81. ncbi Femoral abnormalities and vitamin D metabolism in X-linked hypophosphatemic (Hyp and Gy) mice
    R A Meyer
    Baxter Orthopaedic Research Laboratory, Department of Orthopaedic Surgery, Carolinas Medical Center, Charlotte, North Carolina 28232
    J Orthop Res 13:30-40. 1995
    X-linked hypophosphatemia is a genetic bone disease in humans and mice. Two closely linked mutations in mice, Hyp and Gy, cause low plasma phosphate and a rachitic and osteomalacic bone disease...
  82. ncbi 24,25 Dihydroxyvitamin D supplementation corrects hyperparathyroidism and improves skeletal abnormalities in X-linked hypophosphatemic rickets--a clinical research center study
    T O Carpenter
    Endocrine Section of the Pediatric, Yale University School of Medicine, New Haven, Connecticut 06520, USA
    J Clin Endocrinol Metab 81:2381-8. 1996
    Therapy for X-linked hypophosphatemia (XLH) only partially corrects skeletal lesions and is often complicated by hyperparathyroidism...
  83. ncbi Lipid peroxidation is not the underlying cause of renal injury in hyperoxaluric rats
    Mike L Green
    Department of Pathology, Immunology and Laboratory Medicine, College of Medicine, University of Florida, Gainesville, FL 32610 00275, USA
    Kidney Int 68:2629-38. 2005
    ..In the current study, we assess the role of oxidative stress in renal tubular damage in a rat model of chronic hyperoxaluria (HYP) and chronic renal failure induced by hyperoxaluria (HRF) compared to control rats.
  84. ncbi "Masked" pseudoexfoliation syndrome in unoperated eyes with circular posterior synechiae: clinical-electron microscopic correlation
    C Y Mardin
    Department of Ophthalmology, University of Erlangen Nurnberg, Erlangen, Germany
    Arch Ophthalmol 119:1500-3. 2001
    To investigate the prevalence of "masked" pseudoexfoliation (PEX) syndrome in eyes with circular posterior synechiae receiving antiglaucomatous therapy with miotics.
  85. ncbi The genomic response of the mouse kidney to low-phosphate diet is altered in X-linked hypophosphatemia
    Martha H Meyer
    Orthopaedic Research Laboratory, Carolinas Medical Center, Charlotte, North Carolina 28232 2861, USA
    Physiol Genomics 18:4-11. 2004
    ..The mechanism for the renal adaptation to low-phosphate diets is not well understood. Whether the Hyp mutation of the Phex gene blocks this adaptation is also not clear...
  86. ncbi hyp gene products in Alcaligenes eutrophus are part of a hydrogenase-maturation system
    J Dernedde
    Institut fur Pflanzenphysiologie und Mikrobiologie, Freie Universitat Berlin, Germany
    Eur J Biochem 235:351-8. 1996
    In Alcaligenes eutrophus H16 the hyp gene complex consists of six open reading frames hypA1, B1, F1, C, D and E whose products are involved in maturation of the two NiFe hydrogenases: an NAD-reducing cytoplasmic enzyme (SH) and a ..
  87. ncbi Simultaneous determination of 3-nitrotyrosine, tyrosine, hydroxyproline and proline in exhaled breath condensate by hydrophilic interaction liquid chromatography/electrospray ionization tandem mass spectrometry
    A Conventz
    Institute and Outpatient Clinic of Occupational and Social Medicine, University Hospital, Aachen University of Technology, Pauwelsstrasse 30, D 52074 Aachen, Germany
    J Chromatogr B Analyt Technol Biomed Life Sci 860:78-85. 2007
    ..for two important metabolites, trans-L-4-hydroxyproline (trans-L-4-hydroxypyrrolidin-2-carboxylic acid, t-Hyp) and nitrotyrosine (NT)...
  88. ncbi The physico-chemical "anatomy" of the tautomerization through the DPT of the biologically important pairs of hypoxanthine with DNA bases: QM and QTAIM perspectives
    Ol ha O Brovarets'
    Department of Molecular and Quantum Biophysics, Institute of Molecular Biology and Genetics, National Academy of Sciences of Ukraine, 150 Zabolotnoho Str, 03680, Kyiv, Ukraine
    J Mol Model 19:4119-37. 2013
    The biologically important tautomerization of the Hyp·Cyt, Hyp·Thy and Hyp·Hyp base pairs to the Hyp·Cyt, Hyp·Thy and Hyp·Hyp base pairs, respectively, by the double proton transfer (DPT) was comprehensively studied in vacuo and in ..
  89. doi Growth in PHEX-associated X-linked hypophosphatemic rickets: the importance of early treatment
    Catherine Quinlan
    Department of Nephro urology, Great Ormond Street Hospital, London, UK
    Pediatr Nephrol 27:581-8. 2012
    Inactivating mutations in phosphate-regulating endopeptidase (PHEX) cause X-linked hypophosphatemic rickets (XLHR) characterized by phosphaturia, hypophosphatemia, bony deformities, and growth retardation...
  90. ncbi X-linked hypophosphatemia attributable to pseudoexons of the PHEX gene
    P T Christie
    Molecular Endocrinology, Nuffield Department of Medicine, Level 7, John Radcliffe Hospital, University of Oxford, Oxford, OX3 9DU, United Kingdom
    J Clin Endocrinol Metab 86:3840-4. 2001
    X-linked hypophosphatemia is commonly caused by mutations of the coding region of PHEX (phosphate-regulating gene with homologies to endopeptidases on the X chromosome)...
  91. ncbi Effect of 3-hydroxyproline residues on collagen stability
    Cara L Jenkins
    Contribution from the Department of Chemistry and Department of Biochemistry, University of Wisconsin Madison, Madison, Wisconsin 53706, USA
    J Am Chem Soc 125:6422-7. 2003
    ..l-Proline (Pro) and 4(R)-hydroxy-l-proline (4-Hyp) residues occur most often in the Xaa and Yaa positions...
  92. ncbi Protein kinase activity and protein kinase inhibitor in mouse kidney: effect of the X-linked Hyp mutation and vitamin D status
    H S Tenenhouse
    Endocrinology 117:1719-26. 1985
    ..kinase inhibitor activity were examined in renal homogenates and 20,000 X g supernatant fractions of normal and Hyp mice...
  93. doi Comparison of exhaled endogenous particles from smokers and non-smokers using multivariate analysis
    Anna Bredberg
    Occupational and Environmental Medicine, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden
    Respiration 86:135-42. 2013
    ..We have previously shown that the phospholipid and protein composition of particles in exhaled air (PEx) reflects that of RTLF...
  94. pmc Renal artery stenosis and abdominal aorta aneurysm in patients with pseudoexfoliation syndrome
    K A Gonen
    Department of Radiology, School of Medicine, Namik Kemal University, Tekirdag, Turkey
    Eye (Lond) 27:735-41. 2013
    To evaluate the renal arteries and abdominal aorta in patients with pseudoexfoliation syndrome (PEX).
  95. pmc Genome-wide association study of Tourette's syndrome
    J M Scharf
    Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetics Research, Boston, MA, USA
    Mol Psychiatry 18:721-8. 2013
    ..This study lays the groundwork for the eventual identification of common TS susceptibility variants in larger cohorts and helps to provide a more complete understanding of the full genetic architecture of this disorder...
  96. ncbi Role of abnormal neutral endopeptidase-like activities in Hyp mouse bone cells in renal phosphate transport
    Stéphanie G Dubois
    Unité de recherche en arthrose, Centre de recherche du Centre Hospitalier de l Universite de Montreal, Hopital Notre Dame, Montreal H2L 4M1, Quebec, Canada H3C 3J7
    Am J Physiol Cell Physiol 283:C1414-21. 2002
    We investigated whether the absence of Phex (phosphate-regulating gene with homologies to endopeptidases on the X chromosome) in the Hyp mouse affects the expression and activity of neprilysin (NEP) and of endothelin-converting enzyme-..
  97. doi [New pathogenetic insights into pseudoexfoliation syndrome/glaucoma. Therapeutically relevant?]
    U Schlötzer-Schrehardt
    Augenklinik, Universitatsklinikum Erlangen, Friedrich Alexander Universitat Erlangen Nurnberg, Schwabachanlage 6, 91054 Erlangen
    Ophthalmologe 109:944-51. 2012
    Pseudoexfoliation (PEX) syndrome is a genetically determined, generalized disease of the extracellular matrix leading to the progressive deposition of an abnormal fibrillar material in various intraocular and extraocular tissues ..
  98. pmc Association of ocular pseudoexfoliation syndrome with ischaemic heart disease, arterial hypertension and diabetes mellitus
    Martynas Speckauskas
    Department of Ophthalmology, Lithuanian University of Health Sciences, Kaunas, Lithuania
    Acta Ophthalmol 90:e470-5. 2012
    To determine the prevalence of pseudoexfoliation syndrome (PEX) in Lithuanian urban population and its association with ischaemic heart disease (IHD), arterial hypertension (AH) and diabetes mellitus (DM).
  99. ncbi Tear osmolarity in unilateral pseudoexfoliation syndrome
    Banu Açikalin Oncel
    Baskent University Istanbul Hospital, Ophthalmology Department, Istanbul, Turkey
    Clin Exp Optom 95:506-9. 2012
    The aim was to evaluate tear osmolarity of patients with clinically unilateral pseudoexfoliation (PEX) syndrome and to compare the values with otherwise normal subjects.

Research Grants100

  1. Vitamin D Hormone Signaling in Bone Mineral Homeostasis
    MARK HAUSSLER; Fiscal Year: 2007
    ..possibly limits bone over mineralization by controlling a newly recognized phosphate regulatory system, FGF23 and PHEX, in osteoblasts...
  2. Pathophysiologic Regulation of Fgf-23 in Phosphate Homeostasis: Role of Vitamin D
    Beate Lanske; Fiscal Year: 2010
    ..molecule, and implicated in the pathogenesis of various human diseases, including in X-linked hypophosphatemia (XLH), oncogenic osteomalacia (OOM), autosomal dominant hypophosphatemic rickets (ADHR), familial tumor calcinosis (FTC) ..
  3. FGF2 Isoforms in Bone and Phosphate Homeostasis
    MARJA MARIE HURLEY; Fiscal Year: 2013
    ..of nuclear HMWFGF2 in osteoblasts/osteocytes in Hyp mice, a murine model of X-linked hypophosphatemic rickets (XLH)...
  4. Pathophysiologic Regulation of Fgf-23 in Phosphate Homeostasis: Role of Vitamin D
    Beate Lanske; Fiscal Year: 2007
    ..molecule, and implicated in the pathogenesis of various human diseases, including in X-linked hypophosphatemia (XLH), oncogenic osteomalacia (OOM), autosomal dominant hypophosphatemic rickets (ADHR), familial tumor calcinosis (FTC) ..
  5. Pathophysiologic Regulation of Fgf-23 in Phosphate Homeostasis: Role of Vitamin D
    Beate Lanske; Fiscal Year: 2010
    ..molecule, and implicated in the pathogenesis of various human diseases, including in X-linked hypophosphatemia (XLH), oncogenic osteomalacia (OOM), autosomal dominant hypophosphatemic rickets (ADHR), familial tumor calcinosis (FTC) ..
  6. Pathophysiologic Regulation of Fgf-23 in Phosphate Homeostasis: Role of Vitamin D
    Beate Lanske; Fiscal Year: 2009
    ..molecule, and implicated in the pathogenesis of various human diseases, including in X-linked hypophosphatemia (XLH), oncogenic osteomalacia (OOM), autosomal dominant hypophosphatemic rickets (ADHR), familial tumor calcinosis (FTC) ..
  7. Role of FGF-23 in Regulation of Phosphate Homeostasis
    Suzanne Jan de Beur; Fiscal Year: 2004
    ..OOM is caused by mesenchymal tumors that elaborate a phosphaturic factor. XLH results from mutations in the PHEX gene, that encodes an endopeptidase. ADHR is associated with mutations of the gene encoding FGF-23...
  8. Role of FGF-23 in Regulation of Phosphate Homeostasis
    Suzanne Jan de Beur; Fiscal Year: 2003
    ..OOM is caused by mesenchymal tumors that elaborate a phosphaturic factor. XLH results from mutations in the PHEX gene, that encodes an endopeptidase. ADHR is associated with mutations of the gene encoding FGF-23...
  9. Conditional Isolation of Fgf23 Activity
    Kenneth E White; Fiscal Year: 2010
    ..Further, FGF23 is elevated in X-linked hypophosphatemic rickets (XLH) and increased circulating FGF23 is also associated with a 5-6 fold higher mortality risk in patients with chronic ..
  10. Key Modulators of Cementogenesis
    Martha Somerman; Fiscal Year: 2009
    ..applicable to treatment of Pi associated disorders such as hypophosphatasia (HPP), X-linked hypophosphatemia (XLH), autosomal dominant and recessive hypophospatemic rickets (ADHR, ARHR), familial tumoral calcinosis (FTC), and ..
  11. Etiology and Therapy of Rickets in the Hyp mouse model of XLH
    Marie Demay; Fiscal Year: 2013
    ..the investigations in this proposal are directed at addressing the pathophysiologic basis for the abnormalities observed in XLH and at examining the comparative efficacy of therapeutic interventions, using the Hyp mouse as a model.
  12. P1: The role of parathyroid hormone in the pathogenesis of skeletal disease in X-
    Thomas Carpenter; Fiscal Year: 2007
    X-linked hypophosphatemia (XLH) is the most common heritable form of rickets/osteomalacia in the US. At all ages and irrespective of treatment there is a high incidence of hyperparathyroidism in XLH...
  13. P1: The role of parathyroid hormone in the pathogenesis of skeletal disease in X-
    Thomas Carpenter; Fiscal Year: 2009
    X-linked hypophosphatemia (XLH) is the most common heritable form of rickets/osteomalacia in the US. At all ages and irrespective of treatment there is a high incidence of hyperparathyroidism in XLH...
  14. PHOSPHOTONIN--A NOVEL PHOSPHATE REGULATORY HORMONE
    Suzanne Jan de Beur; Fiscal Year: 2000
    ..The defective gene in XLH encodes PEX, a membrane bound metallopeptidase...
  15. PHOSPHOTONIN--A NOVEL PHOSPHATE REGULATORY HORMONE
    Suzanne Jan de Beur; Fiscal Year: 2003
    ..The defective gene in XLH encodes PEX, a membrane bound metallopeptidase...
  16. PHOSPHOTONIN--A NOVEL PHOSPHATE REGULATORY HORMONE
    Suzanne Jan de Beur; Fiscal Year: 2001
    ..The defective gene in XLH encodes PEX, a membrane bound metallopeptidase...
  17. PHOSPHOTONIN--A NOVEL PHOSPHATE REGULATORY HORMONE
    Suzanne Jan de Beur; Fiscal Year: 1999
    ..The defective gene in XLH encodes PEX, a membrane bound metallopeptidase...
  18. PHOSPHOTONIN--A NOVEL PHOSPHATE REGULATORY HORMONE
    Suzanne Jan de Beur; Fiscal Year: 2002
    ..The defective gene in XLH encodes PEX, a membrane bound metallopeptidase...
  19. Role of Deoxyhypusine Synthase in the Pathogenesis of Type 1 Diabetes
    STEPHANIE CHESTNUT COLVIN; Fiscal Year: 2013
    ..modified form of eukaryotic translation initiation factor 5A (eIF5A), called hypusinated eIF5A (eIF5A[Hyp]). The enzyme responsible for the hypusination of eIF5A is DHS, whose specificity is exclusive for eIF5A...
  20. CLINICAL AND GENETIC ANALYSIS OF ADHR
    MICHAEL ECONS; Fiscal Year: 1993
    ..The three forms of hereditary rickets/osteomalacia: X-linked hypophosphatemic rickets (XLH), hereditary hypophosphatemic rickets with hypercalciuria (HHRH) and autosomal dominant hypophosphatemic rickets (..
  21. Pathogenesis of XLH/Hyp: Role of Phex MEPE and FGF23
    L Quarles; Fiscal Year: 2004
    ..and X-linked hypophosphatemia (XLH) identified the phosphaturic hormone FGF23 and the membrane metalloprotease PHEX, while investigations of Tumor Induced Osteomalacia (TIO) discovered the extracellular matrix protein MEPE...
  22. Pathogenesis of XLH/Hyp: Role of Phex MEPE and FGF23
    L Quarles; Fiscal Year: 2007
    ..and X-linked hypophosphatemia (XLH) identified the phosphaturic hormone FGF23 and the membrane metalloprotease PHEX, while investigations of Tumor Induced Osteomalacia (TIO) discovered the extracellular matrix protein MEPE...
  23. Pathogenesis of XLH/Hyp: Role of Phex MEPE and FGF23
    L Quarles; Fiscal Year: 2006
    ..and X-linked hypophosphatemia (XLH) identified the phosphaturic hormone FGF23 and the membrane metalloprotease PHEX, while investigations of Tumor Induced Osteomalacia (TIO) discovered the extracellular matrix protein MEPE...
  24. Pathogenesis of XLH/Hyp: Role of Phex MEPE and FGF23
    L Quarles; Fiscal Year: 2005
    ..and X-linked hypophosphatemia (XLH) identified the phosphaturic hormone FGF23 and the membrane metalloprotease PHEX, while investigations of Tumor Induced Osteomalacia (TIO) discovered the extracellular matrix protein MEPE...
  25. PATHOGENESIS OF VITAMIN D REFRACTORY DISEASES
    Marc Drezner; Fiscal Year: 1990
    ..to investigate the role of abnormal vitamin D metabolism in the pathogenesis of X-linked hypophosphatemic rickets (XLH) and the effectiveness and complications of long-term calcitriol and phosphate therapy in patients with this ..
  26. X-LINKED HYPOPHOSPHATEMIA: IGF-1 INHIBITORS
    Ralph Meyer; Fiscal Year: 1990
    ..vitamin D-resistant rickets) is caused by mutant dominant genes on the X chromosome of humans (HYP; HPDR) and mice (Hyp)...
  27. P2: Phosphate, PTH, and FGF23 as mediators of the rachitic growth plate
    Marie Demay; Fiscal Year: 2007
    ..hypophosphatemic Vitamin D Receptor (VDR) null mice, mice with diet-induced hypercalcemia/ hypophosphatemia and hyp mice all develop progressive expansion of late hypertrophic chondrocytes due to impaired apoptosis of these cells, ..
  28. P2: Phosphate, PTH, and FGF23 as mediators of the rachitic growth plate
    Marie Demay; Fiscal Year: 2009
    ..hypophosphatemic Vitamin D Receptor (VDR) null mice, mice with diet-induced hypercalcemia/ hypophosphatemia and hyp mice all develop progressive expansion of late hypertrophic chondrocytes due to impaired apoptosis of these cells, ..
  29. CLINICAL AND GENETIC ANALYSIS OF ADHR
    Michael J Econs; Fiscal Year: 2013
    ..test hypotheses about the association between iron and FGF23 in ADHR patients and controls;the relationship between PHEX and FGF23 in causing the phenotypic manifestations of XLH;disregulated phosphate sensing;and the importance of ..
  30. Regulation and Function of FGF23
    L Darryl Quarles; Fiscal Year: 2013
    ..genetic basis for hereditary hypophosphatemic disorders and mutant mouse models have identified the endopeptidase Phex, the SIBLING protein Dmp1, and the endonuclease Enpp1, as local regulators of both the mineralization of ..
  31. IDENTIFICATION OF NOVEL PHOSPHATE REGULATORS
    HARALD JUEPPNER; Fiscal Year: 2006
    ..These studies by different groups have led to the identification of key regulators, including 1) PHEX, which is mutated in X-linked hypophosphatemia (XLH), 2) FGF23, for which gain-of-function mutations were found in ..
  32. IDENTIFICATION OF NOVEL PHOSPHATE REGULATORS
    HARALD JUEPPNER; Fiscal Year: 2007
    ..These studies by different groups have led to the identification of key regulators, including 1) PHEX, which is mutated in X-linked hypophosphatemia (XLH), 2) FGF23, for which gain-of-function mutations were found in ..
  33. Proximal Tubule Transport Defect in Hyp Mice
    Michel Baum; Fiscal Year: 2005
    ..We have found that the Hyp mouse, which has the same genetic defect as humans with X-linked hypophosphatemia, has a higher rate of urinary ..
  34. Osteoblast Derived Pathogenic Factors in Hyp Mice
    Norimoto Yanagawa; Fiscal Year: 2002
    ..In recent years, significant advances have been made on this disorder, which include the discovery of PHEX/Phex gene mutations in XLH and the realization that primary defects in bone may lead to the release of factor(s) ..
  35. Osteoblast Derived Pathogenic Factors in Hyp Mice
    Norimoto Yanagawa; Fiscal Year: 2005
    ..In recent years, significant advances have been made on this disorder, which include the discovery of PHEX/Phex gene mutations in XLH and the realization that primary defects in bone may lead to the release of factor(s) ..
  36. Osteoblast Derived Pathogenic Factors in Hyp Mice
    Norimoto Yanagawa; Fiscal Year: 2004
    ..In recent years, significant advances have been made on this disorder, which include the discovery of PHEX/Phex gene mutations in XLH and the realization that primary defects in bone may lead to the release of factor(s) ..
  37. Osteoblast Derived Pathogenic Factors in Hyp Mice
    Norimoto Yanagawa; Fiscal Year: 2003
    ..In recent years, significant advances have been made on this disorder, which include the discovery of PHEX/Phex gene mutations in XLH and the realization that primary defects in bone may lead to the release of factor(s) ..
  38. LOCALIZING PEX IN LIVING CELLS WITH GREEN FLUORESCENT PROTEIN
    Thomas Carpenter; Fiscal Year: 1999
    Mutations sin a gene encoding a novel metalloendopeptidase, (PEX), are found in X-linked dominant hypophosphatemic rickets and its animal models, Hyp and Gy mice...
  39. LOCALIZING PEX IN LIVING CELLS WITH GREEN FLUORESCENT PROTEIN
    Thomas Carpenter; Fiscal Year: 2000
    Mutations sin a gene encoding a novel metalloendopeptidase, (PEX), are found in X-linked dominant hypophosphatemic rickets and its animal models, Hyp and Gy mice...
  40. DEVELOPMENT OF INTESTINAL TRANSPORT OF CA++ AND PI
    Fayez Ghishan; Fiscal Year: 1999
    ..The studies were successful in characterization of the defect in the hypophosphatemic mouse (Hyp)...
  41. Genes Controlling the Renal Handling of Phosphate
    Ralph Meyer; Fiscal Year: 2003
    ..Kidneys from X-linked hypophosphatemic (Hyp) mice fed normal or low phosphate diet will also be studied...
  42. CHEMISTRY AND PHYSIOLOGY OF BONE
    GERALD MECHANIC; Fiscal Year: 1990
    ..taken after one, two and three weeks and biochemically separated into mineralized and nonmineralized fraction (3H)Hyp in the mineralized fractions will indicate amount of calcification of D deficient state...
  43. TWO X-LINKED GENES THAT REGULATE MINERAL HOMEOSTASIS
    Michael Whyte; Fiscal Year: 2002
    ..The gene involved in XLH is called PEX or PHEX (phosphate-regulating endopeptidase on the X-chromosome), but regulation of its expression and the function of the ..
  44. TWO X-LINKED GENES THAT REGULATE MINERAL HOMEOSTASIS
    Michael Whyte; Fiscal Year: 2000
    ..The gene involved in XLH is called PEX or PHEX (phosphate-regulating endopeptidase on the X-chromosome), but regulation of its expression and the function of the ..
  45. TWO X-LINKED GENES THAT REGULATE MINERAL HOMEOSTASIS
    Michael Whyte; Fiscal Year: 2002
    ..The gene involved in XLH is called PEX or PHEX (phosphate-regulating endopeptidase on the X-chromosome), but regulation of its expression and the function of the ..
  46. TWO X-LINKED GENES THAT REGULATE MINERAL HOMEOSTASIS
    Michael Whyte; Fiscal Year: 2001
    ..The gene involved in XLH is called PEX or PHEX (phosphate-regulating endopeptidase on the X-chromosome), but regulation of its expression and the function of the ..
  47. PATHOGENESIS OF VITAMIN D REFRACTORY OSTEOMALACIAS
    Marc Drezner; Fiscal Year: 1980
    ..Investigation of the mechanism(s) of impaired renal tubular phosphate reabsorption will be performed on the Hyp-mouse kidney in a series of in vitro experiments...
  48. PATHOGENESIS OF VITAMIN D REFRACTORY DISEASES
    Marc Drezner; Fiscal Year: 2005
    Recently, we reported cloning PHEX, the gene causal in the pathogenesis of XLH and potentially contributing to the regulation of P homeostasis and vitamin D metabolism...
  49. PATHOGENESIS OF VITAMIN D REFRACTORY DISEASES
    Marc Drezner; Fiscal Year: 2004
    Recently, we reported cloning PHEX, the gene causal in the pathogenesis of XLH and potentially contributing to the regulation of P homeostasis and vitamin D metabolism...
  50. PATHOGENESIS OF VITAMIN D REFRACTORY DISEASES
    Marc Drezner; Fiscal Year: 2003
    Recently, we reported cloning PHEX, the gene causal in the pathogenesis of XLH and potentially contributing to the regulation of P homeostasis and vitamin D metabolism...
  51. PATHOGENESIS OF VITAMIN D REFRACTORY DISEASES
    Marc Drezner; Fiscal Year: 2007
    Recently, we reported cloning PHEX, the gene causal in the pathogenesis of XLH and potentially contributing to the regulation of P homeostasis and vitamin D metabolism...
  52. PATHOGENESIS OF VITAMIN D REFRACTORY DISEASES
    Marc Drezner; Fiscal Year: 2006
    Recently, we reported cloning PHEX, the gene causal in the pathogenesis of XLH and potentially contributing to the regulation of P homeostasis and vitamin D metabolism...
  53. PATHOGENESIS OF VITAMIN D REFRACTORY DISEASES
    Marc Drezner; Fiscal Year: 2000
    ..period, the principal investigator and a world-wide consortium, the hyp consortium, successfully cloned the gene (PEX) for this disorder...
  54. PATHOGENESIS OF VITAMIN D REFRACTORY DISEASES
    Marc Drezner; Fiscal Year: 1999
    ..period, the principal investigator and a world-wide consortium, the hyp consortium, successfully cloned the gene (PEX) for this disorder...
  55. PATHOGENESIS OF VITAMIN D REFRACTORY DISEASES
    Marc Drezner; Fiscal Year: 1999
    ..period, the principal investigator and a world-wide consortium, the hyp consortium, successfully cloned the gene (PEX) for this disorder...
  56. A Novel Plant Cell Bio-Production Platform for Therapeutic Proteins
    Jianfeng Xu; Fiscal Year: 2010
    ..The innovation of this technology, designated Hyp-Glyco, involves the expression of secreted therapeutic proteins as fusions with a novel hydroxyproline (Hyp)-Glyco ..
  57. Mineralization and the Role of Matrixphosphoglycoprotein
    Peter Rowe; Fiscal Year: 2004
    ..protein-protein interaction between MEPE (a matrix extracellular phosphoglycoprotein markedly elevated in HYP) and PHEX (a Zn-metalloendopeptidase defective in HYP)...
  58. Mineralization and the Role of Matrixphosphoglycoprotein
    Peter Rowe; Fiscal Year: 2005
    ..protein-protein interaction between MEPE (a matrix extracellular phosphoglycoprotein markedly elevated in HYP) and PHEX (a Zn-metalloendopeptidase defective in HYP)...
  59. Vitamin D Hormone Signaling in Bone Mineral Homeostasis
    Mark R Haussler; Fiscal Year: 2010
    ..possibly limits bone overmineralization by controlling a newly recognized phosphate regulatory system, FGF23 and PHEX, in osteoblasts...
  60. Vitamin D Hormone Signaling in Bone Mineral Homeostasis
    Mark R Haussler; Fiscal Year: 2010
    ..possibly limits bone overmineralization by controlling a newly recognized phosphate regulatory system, FGF23 and PHEX, in osteoblasts...
  61. Vitamin D Hormone Signaling in Bone Mineral Homeostasis
    MARK HAUSSLER; Fiscal Year: 2009
    ..possibly limits bone overmineralization by controlling a newly recognized phosphate regulatory system, FGF23 and PHEX, in osteoblasts...
  62. CHARACTERIZATION OF DEFECTIVE GENE IN X LINKED HYPOPHOSPHATEMIC RICKETS
    Thomas Carpenter; Fiscal Year: 1999
    ..Identification and characterization of specific genetic defects in PEX, the recently identified gene for x-linked (HYP), will be the first goal of this study...
  63. Hydroxproline Catabolism and Hyperoxaluria
    W TODD contact LOWTHER; Fiscal Year: 2010
    ..to endogenous oxalate synthesis in normal human subjects and patients with PH using homogeneously-labeled Hyp, 13C5-hydroxyproline, as a metabolic tracer;(2) to quantitate the contribution of hydroxyproline metabolism to ..
  64. COLLAGEN STRUCTURE USING MODEL PEPTIDES
    V Ananthanarayanan; Fiscal Year: 1980
    ..Gly-X-Hyp-Gly-X-OH and (Gly-X-Hyp)n. These will also serve to understand the role of Hyp in collagen structure...
  65. STRUCTURE, SOURCE AND FUNCTIONS OF ALVEOLAR GLYCOPROTEIN
    William Lynn; Fiscal Year: 1980
    ..These glycoproteins were found to contain -Gly-Pro-Hyp-Gly- sequence in the peptide chain...
  66. DISORDERS OF MINERAL METABOLISM IN CHILDREN
    Thomas Carpenter; Fiscal Year: 2001
    ..Carpenter's initial trial of 24,25(OH)2D3 to improve skeletal disease in hypophosphatemic rickets (XLH). The study identified mild hyperparathyroidism as a frequent feature of XLH, and its correction with 24,25(OH)2D3...
  67. DISORDERS OF MINERAL METABOLISM IN CHILDREN
    Thomas Carpenter; Fiscal Year: 2002
    ..Carpenter's initial trial of 24,25(OH)2D3 to improve skeletal disease in hypophosphatemic rickets (XLH). The study identified mild hyperparathyroidism as a frequent feature of XLH, and its correction with 24,25(OH)2D3...
  68. DISORDERS OF MINERAL METABOLISM IN CHILDREN
    Thomas Carpenter; Fiscal Year: 1999
    ..Carpenter's initial trial of 24,25(OH)2D3 to improve skeletal disease in hypophosphatemic rickets (XLH). The study identified mild hyperparathyroidism as a frequent feature of XLH, and its correction with 24,25(OH)2D3...
  69. DISORDERS OF MINERAL METABOLISM IN CHILDREN
    Thomas Carpenter; Fiscal Year: 2003
    ..Carpenter's initial trial of 24,25(OH)2D3 to improve skeletal disease in hypophosphatemic rickets (XLH). The study identified mild hyperparathyroidism as a frequent feature of XLH, and its correction with 24,25(OH)2D3...
  70. DISORDERS OF MINERAL METABOLISM IN CHILDREN
    Thomas Carpenter; Fiscal Year: 2000
    ..Carpenter's initial trial of 24,25(OH)2D3 to improve skeletal disease in hypophosphatemic rickets (XLH). The study identified mild hyperparathyroidism as a frequent feature of XLH, and its correction with 24,25(OH)2D3...
  71. Molecular regulation of renal 125(OH)2D production by Fibroblast Growth Factor23
    Farzana Perwad; Fiscal Year: 2009
    ..peptide, recently identified in a group of hypophosphatemic syndromes such as X-linked hypophosphatemic rickets (XLH) that is characterized by severe renal phosphate wasting, inappropriately low serum 1,25(OH)2D concentrations, and ..
  72. Molecular regulation of renal 125(OH)2D production by Fibroblast Growth Factor23
    Farzana Perwad; Fiscal Year: 2007
    ..peptide, recently identified in a group of hypophosphatemic syndromes such as X-linked hypophosphatemic rickets (XLH) that is characterized by severe renal phosphate wasting, inappropriately low serum 1,25(OH)2D concentrations, and ..
  73. Molecular regulation of renal 125(OH)2D production by Fibroblast Growth Factor23
    Farzana Perwad; Fiscal Year: 2010
    ..peptide, recently identified in a group of hypophosphatemic syndromes such as X-linked hypophosphatemic rickets (XLH) that is characterized by severe renal phosphate wasting, inappropriately low serum 1,25(OH)2D concentrations, and ..
  74. VITAMIN D GROWTH FACTOR CONNECTION IN THE KIDNEY
    Marvin Grieff; Fiscal Year: 1993
    ..handling and vitamin D metabolism will be studied in X-linked hypophosphatemic rickets using the murine model, the Hyp mouse...
  75. Proximal Tubule Transport Defect in Hyp Mice
    Michel Baum; Fiscal Year: 2006
    ..We have found that the Hyp mouse, which has the same genetic defect as humans with X-linked hypophosphatemia, has a higher rate of urinary ..
  76. Proximal Tubule Transport Defect in Hyp Mice
    Michel Baum; Fiscal Year: 2007
    ..We have found that the Hyp mouse, which has the same genetic defect as humans with X-linked hypophosphatemia, has a higher rate of urinary ..
  77. DEVELOPMENT OF INTESTINAL TRANSPORT OF CA++ AND PI
    Fayez Ghishan; Fiscal Year: 1990
    ..will utilize our cDNA to measure and compare sequence homologies in RNA isolated from the hypophosphatemic mouse (Hyp/y) and its genetically age matched controls (+/y) by Northern blot analysis...
  78. Nickel Metabolism in Helicobacter pylori
    Robert Maier; Fiscal Year: 2006
    ..From studies with other organisms, the sequence-identified accessory proteins (encoded by ure and hyp genes) would be expected to form nickel sequestering and energy utilizing (GTP hydrolyzing) complexes needed for ..
  79. Nickel Metabolism in Helicobacter pylori
    Robert Maier; Fiscal Year: 2004
    ..From studies with other organisms, the sequence-identified accessory proteins (encoded by ure and hyp genes) would be expected to form nickel sequestering and energy utilizing (GTP hydrolyzing) complexes needed for ..
  80. Nickel Metabolism in Helicobacter pylori
    Robert Maier; Fiscal Year: 2005
    ..From studies with other organisms, the sequence-identified accessory proteins (encoded by ure and hyp genes) would be expected to form nickel sequestering and energy utilizing (GTP hydrolyzing) complexes needed for ..
  81. Comparative effectiveness of ECG screening in children with Attention Deficit Hyp
    Laurel K Leslie; Fiscal Year: 2010
    ..In this application, we propose to apply three up-to-date methodologies - evidence-based synthesis, decision analysis, and preference elicitation - to address this pressing clinical and public policy issue. ..
  82. Comparative effectiveness of ECG screening in children with Attention Deficit Hyp
    LAUREL LESLIE; Fiscal Year: 2009
    ..In this application, we propose to apply three up-to-date methodologies - evidence-based synthesis, decision analysis, and preference elicitation - to address this pressing clinical and public policy issue. ..
  83. NEUROENDOCRINE BASES OF REPRODUCTIVE BEHAVIOR
    ANNE ETGEN; Fiscal Year: 2006
    The ovarian hormones estradiol (E2) and progesterone (P) act in the hypothalamus (HYP) and preoptic area (POA) to ensure that the preovulatory luteinizing hormone (LH) surge coincides with reproductive behavior (lordosis), thereby ..
  84. NEUROENDOCRINE BASES OF REPRODUCTIVE BEHAVIOR
    ANNE ETGEN; Fiscal Year: 2005
    The ovarian hormones estradiol (E2) and progesterone (P) act in the hypothalamus (HYP) and preoptic area (POA) to ensure that the preovulatory luteinizing hormone (LH) surge coincides with reproductive behavior (lordosis), thereby ..
  85. NEUROENDOCRINE BASES OF REPRODUCTIVE BEHAVIOR
    ANNE ETGEN; Fiscal Year: 2005
    The ovarian hormones estradiol (E2) and progesterone (P) act in the hypothalamus (HYP) and preoptic area (POA) to ensure that the preovulatory luteinizing hormone (LH) surge coincides with reproductive behavior (lordosis), thereby ..
  86. NEUROENDOCRINE BASES OF REPRODUCTIVE BEHAVIOR
    ANNE ETGEN; Fiscal Year: 2003
    The ovarian hormones estradiol (E2) and progesterone (P) act in the hypothalamus (HYP) and preoptic area (POA) to ensure that the preovulatory luteinizing hormone (LH) surge coincides with reproductive behavior (lordosis), thereby ..
  87. NEUROENDOCRINE BASES OF REPRODUCTIVE BEHAVIOR
    ANNE ETGEN; Fiscal Year: 2004
    The ovarian hormones estradiol (E2) and progesterone (P) act in the hypothalamus (HYP) and preoptic area (POA) to ensure that the preovulatory luteinizing hormone (LH) surge coincides with reproductive behavior (lordosis), thereby ..
  88. NEUROENDOCRINE BASES OF REPRODUCTIVE BEHAVIOR
    ANNE ETGEN; Fiscal Year: 2002
    The ovarian hormones estradiol (E2) and progesterone (P) act in the hypothalamus (HYP) and preoptic area (POA) to ensure that the preovulatory luteinizing hormone (LH) surge coincides with reproductive behavior (lordosis), thereby ..
  89. Dysregulation of 3-prolyl-hydroxylation in Human Skeletal Dysplasias
    Brendan Lee; Fiscal Year: 2009
    ..post-translational modification has been 3-prolyl-hydroxylation (P3H) converting proline to 3-hydroxy proline (3-Hyp). It occurs in the fibrillar collagens, i.e...
  90. Dysregulation of 3-prolyl-hydroxylation in Human Skeletal Dysplasias
    Brendan Lee; Fiscal Year: 2006
    ..post-translational modification has been 3-prolyl-hydroxylation (P3H) converting proline to 3-hydroxy proline (3-Hyp). It occurs in the fibrillar collagens, i.e...
  91. Dysregulation of 3-prolyl-hydroxylation in Human Skeletal Dysplasias
    Brendan Lee; Fiscal Year: 2007
    ..post-translational modification has been 3-prolyl-hydroxylation (P3H) converting proline to 3-hydroxy proline (3-Hyp). It occurs in the fibrillar collagens, i.e...
  92. Dysregulation of 3-prolyl-hydroxylation in Human Skeletal Dysplasias
    BRENDAN HL LEE; Fiscal Year: 2010
    ..post-translational modification has been 3-prolyl-hydroxylation (P3H) converting proline to 3-hydroxy proline (3-Hyp). It occurs in the fibrillar collagens, i.e...
  93. Mineralization of the matrix in disease and health
    PETER S ROWE; Fiscal Year: 2010
    ..These proteins all map to a tightly clustered region on chromosome 4q. A unique protein PHEX, regulates at least two SIBLING proteins (MEPE and DMP1), indirectly or directly...
  94. Mineralization of the matrix in disease and health
    Peter Rowe; Fiscal Year: 2009
    ..These proteins all map to a tightly clustered region on chromosome 4q. A unique protein PHEX, regulates at least two SIBLING proteins (MEPE and DMP1), indirectly or directly...
  95. Genes Controlling the Renal Handling of Phosphate
    Ralph Meyer; Fiscal Year: 2004
    ..Kidneys from X-linked hypophosphatemic (Hyp) mice fed normal or low phosphate diet will also be studied...