Genomes and Genes
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
Publications176 found, 100 shown here
- Regulation of fibroblastic growth factor 23 expression but not degradation by PHEXShiguang 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. 2003Inactivating mutations of Phex cause X-linked hypophosphatemia (XLH) by increasing levels of a circulating phosphaturic factor. FGF23 is a candidate for this phosphaturic factor...
- Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residuesD Filisetti
Institut de Genetique et de Biologie Moleculaire et Cellulaire, CNRS, INSERM, ULP, Illkirch, France
Eur J Hum Genet 7:615-9. 1999Thirty newly detected mutations in the PHEX gene are reported, and pooled with all the previously published mutations...
- 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 promoterEric 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. 2004The 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...
- 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 typeMarcos 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...
- PHEX expression in parathyroid gland and parathyroid hormone dysregulation in X-linked hypophosphatemiaT 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)...
- Familial hypophosphatemic rickets caused by a large deletion in PHEX geneTasuku 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...
- Mutational analysis of the PHEX gene: novel point mutations and detection of large deletions by MLPA in patients with X-linked hypophosphatemic ricketsS 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...
- Pex/PEX tissue distribution and evidence for a deletion in the 3' region of the Pex gene in X-linked hypophosphatemic miceL Beck
Department of Pediatrics, McGill University Montreal Children s Hospital Research Institute, Quebec, Canada
J Clin Invest 99:1200-9. 1997b>PEX, a phosphate-regulating gene with homology to endopeptidases on the X chromosome, was recently identified as the candidate gene for X-linked hypophosphatemia...
- Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic ricketsK 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...
- Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic ricketsI A Holm
Division of Endocrinology, Department of Medicine, Children s Hospital, Boston, Massachusetts 02115, USA
J Clin Endocrinol Metab 86:3889-99. 2001b>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...
- Disease-causing missense mutations in the PHEX gene interfere with membrane targeting of the recombinant proteinY Sabbagh
Department of Biology, McGill University, Montreal, Quebec, Canada
Hum Mol Genet 10:1539-46. 2001b>PHEX is homologous to the M13 zinc metallopeptidases, a class of type II membrane glycoproteins...
- Cloning of human PEX cDNA. Expression, subcellular localization, and endopeptidase activityM 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. 1998Mutations in the PEX gene are responsible for X-linked hypophosphatemic rickets...
- 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 ricketsM 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...
- Structure and function of disease-causing missense mutations in the PHEX geneYves 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. 2003The PHEX gene that is mutated in patients with X-linked hypophosphatemia (XLH) encodes a protein homologous to the M13 family of zinc metallopeptidases...
- 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 traitKatsumi 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.
- Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic ricketsShoji 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)...
- Normal growth and muscle dysfunction in X-linked hypophosphatemic rickets associated with a novel mutation in the PHEX genePolyzois 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. 2008X-linked hypophosphatemic rickets (XLH) is characterized by hypophosphatemia and growth retardation. Early diagnosis and treatment improve growth.
- Genetic advances, biochemical and clinical features and critical approach to treatment of patients with X-linked hypophosphatemic ricketsGiampiero 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...
- PHEX gene mutations and genotype-phenotype analysis of Korean patients with hypophosphatemic ricketsHae Ryong Song
Department of Orthopedic Surgery, Rare Diseases Institute, Korea University Guro Hospital, Seoul, Korea
J Korean Med Sci 22:981-6. 2007X-linked hypophosphatemic rickets (XLH) results from mutations in the PHEX gene...
- PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic ricketsCeline 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...
- Novel PHEX gene mutations in two Taiwanese patients with hypophosphatemic ricketsYen 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 ..
- FGF23 is processed by proprotein convertases but not by PHEXAnna 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...
- Mutational analysis of PHEX gene in X-linked hypophosphatemiaP 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 ..
- X-linked hypophosphataemia: a homologous disorder in humans and miceH 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...
- Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic ricketsH Tyynismaa
Dept Medical Genetics, University of Helsinki, Helsinki, Finland
Hum Mutat 15:383-4. 2000We have carried out a mutation screening of the PHEX gene in Finnish patients with hypophosphatemia...
- A clinical and molecular genetic study of hypophosphatemic rickets in childrenHee 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...
- 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. 1997Mutations 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)...
- PHEX, FGF23, DMP1 and beyondTim 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...
- Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic ricketsF Francis
Max Planck Institut fur Molekulare Genetik, Berlin, Germany
Genome Res 7:573-85. 1997
- Expression and cloning of the human X-linked hypophosphatemia gene cDNAM 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...
- FGF23, PHEX, and MEPE regulation of phosphate homeostasis and skeletal mineralizationL 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 ..
- Three novel mutations of the PHEX gene in three Chinese families with X-linked dominant hypophosphatemic ricketsWeibo 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...
- Direct demonstration of a humorally-mediated inhibition of renal phosphate transport in the Hyp mouseD Lajeunesse
Hopital Maisonneuve Rosemont, Montreal, Quebec, Canada
Kidney Int 50:1531-8. 1996The 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...
- [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 ..
- 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...
- Thiazide diuretics arrest the progression of nephrocalcinosis in children with X-linked hypophosphatemiaM G Seikaly
University of Texas Southwestern Medical Center, Dallas, Texas, USA
Pediatrics 108:E6. 2001X-linked hypophosphatemia (XLH) is characterized clinically by rickets, hypophosphatemia, and hyperphosphaturia...
- The glue protein of ribbed mussels (Geukensia demissa): a natural adhesive with some features of collagenJ 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)...
- Osteocalcin production in primary osteoblast cultures derived from normal and Hyp miceT O Carpenter
Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut 06520 8064, USA
Endocrinology 139:35-43. 1998Rickets 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...
- Treatment of X-linked hypophosphatemia with calcitriol and phosphate increases circulating fibroblast growth factor 23 concentrationsErik 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...
- Fibroblast growth factor-23 is the phosphaturic factor in tumor-induced osteomalacia and may be phosphatoninSeiji Fukumoto
Department of Laboratory Medicine, University of Tokyo, Tokyo
Curr Opin Nephrol Hypertens 11:385-9. 2002Three 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 ..
- ASARM peptides: PHEX-dependent and -independent regulation of serum phosphateValentin 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...
- [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...
- Genetic screening for X-linked hypophosphatemic mice and ontogenic characterization of the defect in the renal sodium-phosphate transporterY 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...
- Spermine deficiency in Gy mice caused by deletion of the spermine synthase geneB 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), ..
- Cardiovascular and behavioural effects of intracerebroventricularly administered tachykinin NK3 receptor antagonists in the conscious ratE 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 (..
- Effect of gene dose and parental origin on bone histomorphometry in X-linked Hyp miceZ Q Qiu
Department of Biology, McGill University, Montreal, Quebec H3A 1B1, Canada
Bone 34:134-9. 2004X-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...
- Correction of proximal tubule phosphate transport defect in Hyp mice in vivo and in vitro with indomethacinMichel 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 ..
- Partial deletion of both the spermine synthase gene and the Pex gene in the X-linked hypophosphatemic, gyro (Gy) mouseR A Meyer
Department of Orthopaedic Surgery, Carolinas Medical Center, Charlotte, North Carolina 28232 2861, USA
Genomics 48:289-95. 1998Gy, along with Hyp, is a dominant mutation of the normal gene Pex causing X-linked hypophosphatemia in the mouse...
- Distinct roles for intrinsic osteocyte abnormalities and systemic factors in regulation of FGF23 and bone mineralization in Hyp miceShiguang 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 ..
- Homozygous ablation of fibroblast growth factor-23 results in hyperphosphatemia and impaired skeletogenesis, and reverses hypophosphatemia in Phex-deficient miceDespina 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 ..
- Formation of chlorinated disinfection by-products in viticultureJan Bernd Barhorst
Institute for AgroEcology IfA, RLP AgroScience GmbH, 67435 Neustadt Weinstrasse, Germany
Environ Sci Pollut Res Int 16:582-9. 2009The use of sodium hypochlorite (HYP) in viticulture results in effluents which are contaminated with halogenated substances...
- Effect of dipyridamole on serum and urinary phosphate in X-linked hypophosphatemiaM 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. 2000X-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...
- Increased cathepsin D release by Hyp mouse osteoblast cellsNaoko 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 ..
- Calcimimetics as an adjuvant treatment for familial hypophosphatemic ricketsUri 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. 2008The treatment for X-linked hypophosphatemia (XLH) with phosphate and calcitriol can be complicated by secondary hyperparathyroidism and nephrocalcinosis...
- [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. 2010To 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.
- The changes in various hydroxyproline fractions in aortic tissue of rabbits are closely related to the progression of atherosclerosisMohamed 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 ..
- Overexpression of Phex in osteoblasts fails to rescue the Hyp mouse phenotypeShiguang Liu
Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710, USA
J Biol Chem 277:3686-97. 2002Inactivating mutations of Phex, a phosphate-regulating endopeptidase, cause hypophosphatemia and impaired mineralization in X-linked hypophosphatemia (XLH) and its mouse homologue, Hyp...
- Effect of mercuric chloride on various hydroxyproline fractions in rat serumN 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 ..
- Phosphate transport in osteoblasts from normal and X-linked hypophosphatemic miceL Rifas
Division of Bone and Mineral Diseases, Washington University Medical Center, St Louis, Missouri 63110
Calcif Tissue Int 54:505-10. 1994Human 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...
- Osteomalacia in hyp mice is associated with abnormal phex expression and with altered bone matrix protein expression and depositionD Miao
Department of Medicine, McGill University, Montreal, Quebec, Canada H3A 1A1
Endocrinology 142:926-39. 2001To 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 ..
- Regulation of osteoclast differentiation and function by phosphate: potential role of osteoclasts in the skeletal abnormalities in hypophosphatemic conditionsTetsuyuki Hayashibara
Department of Biochemistry, Osaka University Graduate School of Dentistry, Suita, Osaka, Japan
J Bone Miner Res 22:1743-51. 2007Mice 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...
- Inactivation of klotho function induces hyperphosphatemia even in presence of high serum fibroblast growth factor 23 levels in a genetically engineered hypophosphatemic (Hyp) mouse modelTeruyo 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...
- 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 activityShiguang Liu
The Kidney Institute, University of Kansas Medical Center, MS 3018, Kansas City, KS 66160, USA
J Endocrinol 192:261-7. 2007Inactivating 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 ..
- Multilocus mapping of the X-linked hypophosphatemic rickets geneM J Econs
Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710
J Clin Endocrinol Metab 75:201-6. 1992X-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 ..
- New intragenic deletions in the Phex gene clarify X-linked hypophosphatemia-related abnormalities in miceBettina Lorenz-Depiereux
Institute of Human Genetics, GSF National Research Center, München Neuherberg, Germany
Mamm Genome 15:151-61. 2004X-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)...
- Downregulation of osteoblast Phex expression by PTHNathalie 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 ..
- Peptide and non-peptide bradykinin B2 receptor agonists and antagonists: a reappraisal of their pharmacology in the guinea-pig ileumS Meini
Pharmacology Department, Menarini Ricerche S p A, via Rismondo 12 A, 50135, Florence, Italy
Eur J Pharmacol 409:185-94. 2000We 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-..
- Correction of the mineralization defect in hyp mice treated with protease inhibitors CA074 and pepstatinPeter 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)...
- Pex mRNA is localized in developing mouse osteoblasts and odontoblastsA 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. 1998Mutations 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 ..
- 1,25-(OH)2D3 down-regulates expression of Phex, a marker of the mature osteoblastB Ecarot
Shriners Hospital, Department of Surgery, McGill University, Montreal, Quebec, Canada
Endocrinology 140:1192-9. 1999Mutations in the PHEX/Phex gene, which encodes for a protein with homology to neutral endopeptidases, are responsible for human and murine X-linked hypophosphatemia...
- Evidence for Phex haploinsufficiency in murine X-linked hypophosphatemiaL Wang
Genetics Unit, Shriners Hospital, Departments of Surgery and Human Genetics, McGill University, Montreal, Quebec, Canada H3G 1A6
Mamm Genome 10:385-9. 1999Mutations in the PHEX gene (phosphate-regulating gene with homology to endopeptidases on the X-chromosome) are responsible for X-linked hypophosphatemia (HYP)...
- cDNA cloning of the murine Pex gene implicated in X-linked hypophosphatemia and evidence for expression in boneL Du
Genetics Unit, McGill University, Montreal, Quebec, H3G 1A6, Canada
Genomics 36:22-8. 1996The recently identified human PEX gene apparently encodes for a neutral endopeptidase that is mutated in patients with X-linked hypophosphatemia...
- Extensin: repetitive motifs, functional sites, post-translational codes, and phylogenyM 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)...
- 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 vivoE Zoidis
Department of Internal Medicine, Division of Endocrinology and Diabetes, University Hospital, CH 8091, Zurich, Switzerland
Mol Cell Endocrinol 168:41-51. 2000Phosphate regulating gene with homology to endopeptidases on the X chromosome (Phex) inactivating mutations cause X-linked hypophosphatemia (XLH)...
- 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 boneD 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...
- IGF-I and GH stimulate Phex mRNA expression in lungs and bones and 1,25-dihydroxyvitamin D(3) production in hypophysectomized ratsEvangelos 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)...
- Pathogenic role of Fgf23 in Hyp miceShiguang Liu
The Kidney Institute, The University of Kansas Medical Center, Kansas City, KS 66160, USA
Am J Physiol Endocrinol Metab 291:E38-49. 2006Inactivating 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 ..
- Pseudoexfoliation syndrome in eyes with ischemic central retinal vein occlusion. A histopathologic and electron microscopic studyC Cursiefen
Department of Ophthalmology, University Erlangen Nurnberg, Schwabachanlage 6, D 91054 Erlangen, Germany
Acta Ophthalmol Scand 79:476-8. 2001To 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 ..
- MEPE-ASARM peptides control extracellular matrix mineralization by binding to hydroxyapatite: an inhibition regulated by PHEX cleavage of ASARMWilliam 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)...
- Therapeutic effects of anti-FGF23 antibodies in hypophosphatemic rickets/osteomalaciaYukiko Aono
Pharmacological Research Laboratories, Kyowa Hakko Kirin, Tokyo, Japan
J Bone Miner Res 24:1879-88. 2009X-linked hypophosphatemia (XLH), characterized by renal phosphate wasting, is the most common cause of vitamin D-resistant rickets...
- Femoral abnormalities and vitamin D metabolism in X-linked hypophosphatemic (Hyp and Gy) miceR A Meyer
Baxter Orthopaedic Research Laboratory, Department of Orthopaedic Surgery, Carolinas Medical Center, Charlotte, North Carolina 28232
J Orthop Res 13:30-40. 1995X-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...
- 24,25 Dihydroxyvitamin D supplementation corrects hyperparathyroidism and improves skeletal abnormalities in X-linked hypophosphatemic rickets--a clinical research center studyT O Carpenter
Endocrine Section of the Pediatric, Yale University School of Medicine, New Haven, Connecticut 06520, USA
J Clin Endocrinol Metab 81:2381-8. 1996Therapy for X-linked hypophosphatemia (XLH) only partially corrects skeletal lesions and is often complicated by hyperparathyroidism...
- Lipid peroxidation is not the underlying cause of renal injury in hyperoxaluric ratsMike 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.
- "Masked" pseudoexfoliation syndrome in unoperated eyes with circular posterior synechiae: clinical-electron microscopic correlationC Y Mardin
Department of Ophthalmology, University of Erlangen Nurnberg, Erlangen, Germany
Arch Ophthalmol 119:1500-3. 2001To investigate the prevalence of "masked" pseudoexfoliation (PEX) syndrome in eyes with circular posterior synechiae receiving antiglaucomatous therapy with miotics.
- The genomic response of the mouse kidney to low-phosphate diet is altered in X-linked hypophosphatemiaMartha 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...
- hyp gene products in Alcaligenes eutrophus are part of a hydrogenase-maturation systemJ Dernedde
Institut fur Pflanzenphysiologie und Mikrobiologie, Freie Universitat Berlin, Germany
Eur J Biochem 235:351-8. 1996In 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 ..
- Simultaneous determination of 3-nitrotyrosine, tyrosine, hydroxyproline and proline in exhaled breath condensate by hydrophilic interaction liquid chromatography/electrospray ionization tandem mass spectrometryA 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)...
- The physico-chemical "anatomy" of the tautomerization through the DPT of the biologically important pairs of hypoxanthine with DNA bases: QM and QTAIM perspectivesOl 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. 2013The 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 ..
- Growth in PHEX-associated X-linked hypophosphatemic rickets: the importance of early treatmentCatherine Quinlan
Department of Nephro urology, Great Ormond Street Hospital, London, UK
Pediatr Nephrol 27:581-8. 2012Inactivating mutations in phosphate-regulating endopeptidase (PHEX) cause X-linked hypophosphatemic rickets (XLHR) characterized by phosphaturia, hypophosphatemia, bony deformities, and growth retardation...
- X-linked hypophosphatemia attributable to pseudoexons of the PHEX geneP 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. 2001X-linked hypophosphatemia is commonly caused by mutations of the coding region of PHEX (phosphate-regulating gene with homologies to endopeptidases on the X chromosome)...
- Effect of 3-hydroxyproline residues on collagen stabilityCara 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...
- Protein kinase activity and protein kinase inhibitor in mouse kidney: effect of the X-linked Hyp mutation and vitamin D statusH 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...
- Comparison of exhaled endogenous particles from smokers and non-smokers using multivariate analysisAnna 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...
- Renal artery stenosis and abdominal aorta aneurysm in patients with pseudoexfoliation syndromeK A Gonen
Department of Radiology, School of Medicine, Namik Kemal University, Tekirdag, Turkey
Eye (Lond) 27:735-41. 2013To evaluate the renal arteries and abdominal aorta in patients with pseudoexfoliation syndrome (PEX).
- Genome-wide association study of Tourette's syndromeJ 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...
- Role of abnormal neutral endopeptidase-like activities in Hyp mouse bone cells in renal phosphate transportStéphanie 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. 2002We 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-..
- [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. 2012Pseudoexfoliation (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 ..
- Association of ocular pseudoexfoliation syndrome with ischaemic heart disease, arterial hypertension and diabetes mellitusMartynas Speckauskas
Department of Ophthalmology, Lithuanian University of Health Sciences, Kaunas, Lithuania
Acta Ophthalmol 90:e470-5. 2012To 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).
- Tear osmolarity in unilateral pseudoexfoliation syndromeBanu Açikalin Oncel
Baskent University Istanbul Hospital, Ophthalmology Department, Istanbul, Turkey
Clin Exp Optom 95:506-9. 2012The aim was to evaluate tear osmolarity of patients with clinically unilateral pseudoexfoliation (PEX) syndrome and to compare the values with otherwise normal subjects.
- Vitamin D Hormone Signaling in Bone Mineral HomeostasisMARK HAUSSLER; Fiscal Year: 2007..possibly limits bone over mineralization by controlling a newly recognized phosphate regulatory system, FGF23 and PHEX, in osteoblasts...
- Pathophysiologic Regulation of Fgf-23 in Phosphate Homeostasis: Role of Vitamin DBeate 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) ..
- Pathophysiologic Regulation of Fgf-23 in Phosphate Homeostasis: Role of Vitamin DBeate 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) ..
- Pathophysiologic Regulation of Fgf-23 in Phosphate Homeostasis: Role of Vitamin DBeate 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) ..
- Pathophysiologic Regulation of Fgf-23 in Phosphate Homeostasis: Role of Vitamin DBeate Lanske; Fiscal Year: 2010
- Key Modulators of CementogenesisMartha 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 ..
- Role of FGF-23 in Regulation of Phosphate HomeostasisSuzanne 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...
- PHOSPHOTONIN--A NOVEL PHOSPHATE REGULATORY HORMONESuzanne Jan de Beur; Fiscal Year: 2003..The defective gene in XLH encodes PEX, a membrane bound metallopeptidase...
- Pathogenesis of XLH/Hyp: Role of Phex MEPE and FGF23L 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...
- IDENTIFICATION OF NOVEL PHOSPHATE REGULATORSHARALD 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 ..
- Osteoblast Derived Pathogenic Factors in Hyp MiceNorimoto 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) ..
- Vitamin D Hormone Signaling in Bone Mineral HomeostasisMark R Haussler; Fiscal Year: 2010..possibly limits bone overmineralization by controlling a newly recognized phosphate regulatory system, FGF23 and PHEX, in osteoblasts...
- Vitamin D Hormone Signaling in Bone Mineral HomeostasisMARK HAUSSLER; Fiscal Year: 2009..possibly limits bone overmineralization by controlling a newly recognized phosphate regulatory system, FGF23 and PHEX, in osteoblasts...
- PATHOGENESIS OF VITAMIN D REFRACTORY DISEASESMarc Drezner; Fiscal Year: 2007Recently, 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...
- TWO X-LINKED GENES THAT REGULATE MINERAL HOMEOSTASISMichael 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 ..
- PATHOGENESIS OF VITAMIN D REFRACTORY DISEASESMarc Drezner; Fiscal Year: 1999..period, the principal investigator and a world-wide consortium, the hyp consortium, successfully cloned the gene (PEX) for this disorder...
- PATHOGENESIS OF VITAMIN D REFRACTORY DISEASESMarc Drezner; Fiscal Year: 2000..period, the principal investigator and a world-wide consortium, the hyp consortium, successfully cloned the gene (PEX) for this disorder...
- Hydroxproline Catabolism and HyperoxaluriaW 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 ..
- DISORDERS OF MINERAL METABOLISM IN CHILDRENThomas 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...
- Molecular regulation of renal 125(OH)2D production by Fibroblast Growth Factor23Farzana 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 ..
- Proximal Tubule Transport Defect in Hyp MiceMichel 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 ..
- Nickel Metabolism in Helicobacter pyloriRobert 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 ..
- NEUROENDOCRINE BASES OF REPRODUCTIVE BEHAVIORANNE ETGEN; Fiscal Year: 2006The 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 ..
- Dysregulation of 3-prolyl-hydroxylation in Human Skeletal DysplasiasBRENDAN 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...
- Dysregulation of 3-prolyl-hydroxylation in Human Skeletal DysplasiasBrendan 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...
- Mineralization of the matrix in disease and healthPETER 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...
- Genes Controlling the Renal Handling of PhosphateRalph Meyer; Fiscal Year: 2004..Kidneys from X-linked hypophosphatemic (Hyp) mice fed normal or low phosphate diet will also be studied...