nail patella syndrome

Summary

Summary: A syndrome of multiple abnormalities characterized by the absence or hypoplasia of the PATELLA and congenital nail dystrophy. It is a genetically determined autosomal dominant trait.

Top Publications

  1. ncbi The course of pregnancy in a patient with nail-patella syndrome
    H L Chua
    Department of Obstetrics and Gynaecology, Singapore General Hospital, 1 Hospital Drive, Singapore 169608
    Ann Acad Med Singapore 31:349-52. 2002
  2. doi Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man
    Ernie Mhf Bongers
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Eur J Hum Genet 16:1240-4. 2008
  3. pmc Nail-patella syndrome and its association with glaucoma: a review of eight families
    Z Mimiwati
    Department of Ophthalmology, Eye Research, University of Melbourne, Victoria 3002, Australia
    Br J Ophthalmol 90:1505-9. 2006
  4. ncbi Nephropathy of nail-patella syndrome
    T Taguchi
    Department of Pathology and Pediatrics, School of Medicine, Fukuoka University, Japan
    Ultrastruct Pathol 12:175-83. 1988
  5. ncbi Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome
    R Morello
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Nat Genet 27:205-8. 2001
  6. ncbi Phenotype severity and genetic variation at the disease locus: an investigation of nail dysplasia in the nail patella syndrome
    J A Dunston
    Predoctoral Program in Human Genetics and Molecular Biology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Ann Hum Genet 69:1-8. 2005
  7. ncbi Twenty-two novel LMX1B mutations identified in nail patella syndrome (NPS) patients
    J D Hamlington
    Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA
    Hum Mutat 18:458. 2001
  8. ncbi Skeletal integrity in patients with nail patella syndrome
    Adele L Towers
    University of Pittsburgh, Osteoporosis Prevention and Treatment Center, Kaufmann Medical Building, Suite 1110, 3471 Fifth Avenue, Pittsburgh, Pennsylvania 15213 3221, USA
    J Clin Endocrinol Metab 90:1961-5. 2005
  9. ncbi A neurological phenotype in nail patella syndrome (NPS) patients illuminated by studies of murine Lmx1b expression
    Jennifer A Dunston
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore MD 21205, USA
    Eur J Hum Genet 13:330-5. 2005
  10. ncbi Nail-patella glomerulopathy without associated constitutional abnormalities
    Craig W Zuppan
    Department of Pathology, Loma Linda University and Medical Center, Loma Linda, California 92354, USA
    Ultrastruct Pathol 27:357-61. 2003

Research Grants

  1. Mechanisms of Veterbrate Dorsal-ventral Limb Patterning
    Randy L Johnson; Fiscal Year: 2010
  2. Mechanisms of Veterbrate Dorsal-ventral Limb Patterning
    Randy Johnson; Fiscal Year: 2009
  3. Mechanisms of Veterbrate Dorsal-ventral Limb Patterning
    Randy Johnson; Fiscal Year: 2007
  4. Mechanisms of Ocular Morphogenesis The anterior segment
    Randy Johnson; Fiscal Year: 2005
  5. GLOMERULAR PERMSELECTIVITY IN ALPORT SYNDROME
    Clifford Kashtan; Fiscal Year: 2004
  6. PREFACULTY TRAINING IN PEDIATRIC NEPHROLOGY
    Clifford Kashtan; Fiscal Year: 2007
  7. MOLECULAR GENETICS OF OPEN ANGLE GLAUCOMA
    Douglas Vollrath; Fiscal Year: 2007
  8. Genetic model of retinal pigment epithelium degeneration
    Douglas Vollrath; Fiscal Year: 2005
  9. COLLABORATIVE STUDY OF INITIAL GLAUCOMA TREATMENT
    PAUL LICHTER; Fiscal Year: 2003
  10. MOLECULAR GENETICS OF NAIL PATELLA SYNDROME
    Iain McIntosh; Fiscal Year: 1999

Scientific Experts

Detail Information

Publications107 found, 100 shown here

  1. ncbi The course of pregnancy in a patient with nail-patella syndrome
    H L Chua
    Department of Obstetrics and Gynaecology, Singapore General Hospital, 1 Hospital Drive, Singapore 169608
    Ann Acad Med Singapore 31:349-52. 2002
    ..The nail-patella syndrome is a rare autosomal dominant condition with high penetrance. Pregnancy in such a patient is rare and we believe this to be the first report of a live birth occurring in a patient with nail-patella syndrome...
  2. doi Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man
    Ernie Mhf Bongers
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Eur J Hum Genet 16:1240-4. 2008
    Heterozygous mutations in the LMX1B gene cause nail patella syndrome (NPS) that is associated with nail and skeletal malformations, nephropathy, and glaucoma...
  3. pmc Nail-patella syndrome and its association with glaucoma: a review of eight families
    Z Mimiwati
    Department of Ophthalmology, Eye Research, University of Melbourne, Victoria 3002, Australia
    Br J Ophthalmol 90:1505-9. 2006
    ..Mutations in the LMX1B gene were found in four North American families in whom glaucoma cosegregated with NPS...
  4. ncbi Nephropathy of nail-patella syndrome
    T Taguchi
    Department of Pathology and Pediatrics, School of Medicine, Fukuoka University, Japan
    Ultrastruct Pathol 12:175-83. 1988
    ..It is concluded that the glomerular lesions in nail-patella syndrome may be caused by abnormal metabolic processes of collagen in glomeruli rather than entrapment of circulating collagen precursors...
  5. ncbi Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome
    R Morello
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Nat Genet 27:205-8. 2001
    ..b>Nail patella syndrome (NPS) is caused by mutations in LMX1B, encoding a LIM homeodomain transcription factor...
  6. ncbi Phenotype severity and genetic variation at the disease locus: an investigation of nail dysplasia in the nail patella syndrome
    J A Dunston
    Predoctoral Program in Human Genetics and Molecular Biology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Ann Hum Genet 69:1-8. 2005
    ..The nail dysplasia observed in Nail Patella Syndrome (NPS) was selected as a quantifiable variable within a Mendelian disorder, for which data could be readily ..
  7. ncbi Twenty-two novel LMX1B mutations identified in nail patella syndrome (NPS) patients
    J D Hamlington
    Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA
    Hum Mutat 18:458. 2001
    ..in the gene encoding the transcription factor LMX1B, previously shown to be mutated in persons with Nail Patella Syndrome (NPS)...
  8. ncbi Skeletal integrity in patients with nail patella syndrome
    Adele L Towers
    University of Pittsburgh, Osteoporosis Prevention and Treatment Center, Kaufmann Medical Building, Suite 1110, 3471 Fifth Avenue, Pittsburgh, Pennsylvania 15213 3221, USA
    J Clin Endocrinol Metab 90:1961-5. 2005
    b>Nail patella syndrome (NPS) is a rare autosomal dominant disorder resulting from a heterogeneous loss of function in the LMX1B gene...
  9. ncbi A neurological phenotype in nail patella syndrome (NPS) patients illuminated by studies of murine Lmx1b expression
    Jennifer A Dunston
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore MD 21205, USA
    Eur J Hum Genet 13:330-5. 2005
    b>Nail patella syndrome (NPS) is an autosomal dominant disorder affecting development of the limb, kidney and eye. NPS is the result of heterozygous loss-of-function mutations in the LIM-homeodomain transcription factor, LMX1B...
  10. ncbi Nail-patella glomerulopathy without associated constitutional abnormalities
    Craig W Zuppan
    Department of Pathology, Loma Linda University and Medical Center, Loma Linda, California 92354, USA
    Ultrastruct Pathol 27:357-61. 2003
    ....
  11. pmc In vivo expression of putative LMX1B targets in nail-patella syndrome kidneys
    Laurence Heidet
    Inserm U574, Universite Rene Descartes, Hopital Necker Enfants Malades, Paris, France
    Am J Pathol 163:145-55. 2003
    ..These findings indicate that heterozygous mutations of LMX1B do not appear to dramatically affect the expression of type IV collagen chains, podocin, or CD2AP in NPS patients...
  12. pmc Transcriptional induction of slit diaphragm genes by Lmx1b is required in podocyte differentiation
    Jeffrey H Miner
    Department of Medicine, Renal Division, Washington University School of Medicine, 660 S Euclid Avenue, St Louis, Missouri 63110, USA
    J Clin Invest 109:1065-72. 2002
    ..Our results indicate that reduced levels of proteins associated with foot processes and the glomerular slit diaphragm likely contribute, along with reduced levels of GBM collagens, to the nephropathy associated with NPS...
  13. pmc The LIM-homeodomain transcription factor Lmx1b plays a crucial role in podocytes
    Claudia Rohr
    Institute for Anatomy and Cell Biology I, University of Heidelberg, Im Neuenheimer Feld 307, 69120 Heidelberg, Germany
    J Clin Invest 109:1073-82. 2002
    ....
  14. ncbi Insight into podocyte differentiation from the study of human genetic disease: nail-patella syndrome and transcriptional regulation in podocytes
    Roy Morello
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Pediatr Res 51:551-8. 2002
    ..Moreover, they raise intriguing questions about more global transcriptional regulation of podocyte morphogenesis...
  15. ncbi Functional characterization of LMX1B mutations associated with nail-patella syndrome
    Utako Sato
    Department of Pediatrics, University of Tokyo, Tokyo 113 8655, Japan
    Pediatr Res 57:783-8. 2005
    ..These results suggested that NPS is caused by loss-of-function mutations of LMX1B, and haploinsufficiency of LMX1B should be the predominant pathogenesis of NPS in humans...
  16. ncbi Interaction of the LMX1B and PAX2 gene products suggests possible molecular basis of differential phenotypes in Nail-Patella syndrome
    Monica Marini
    Laboratory of Molecular Genetics, G Gaslini Institute, Genova, Italy
    Eur J Hum Genet 13:789-92. 2005
    ..Such interaction provides support to further studies on pathways underlying important developmental processes...
  17. ncbi Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy
    Ernie M H F Bongers
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, The Netherlands
    Eur J Hum Genet 13:935-46. 2005
    ..We suggest that the NPS phenotype is broader than previously described and that NTG and hearing impairment are part of NPS. Further studies on modifier factors are needed to understand the mechanisms underlying phenotypic heterogeneity...
  18. ncbi The podocyte-specific inactivation of Lmx1b, Ldb1 and E2a yields new insight into a transcriptional network in podocytes
    Hani Suleiman
    University of Regensburg, Institute for Molecular and Cellular Anatomy, Universitätsstr 31, 93053 Regensburg, and Division of Nephrology and Immunology, University Hospital, RWTH, Aachen, Germany
    Dev Biol 304:701-12. 2007
    ..We conclude that LDB1, but not E2A is a promising candidate as a modifier gene in patients with nail-patella syndrome...
  19. pmc Fine mapping of the nail-patella syndrome locus at 9q34
    I McIntosh
    Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287 4922, USA
    Am J Hum Genet 60:133-42. 1997
    ..0; theta = .00) and D9S315 (LOD = 22.0; theta = .00). Informative recombination events place the NPS locus within a 1-2-cM interval between D9S60 and the adenylate kinase gene (AK1)...
  20. ncbi Cosegregation of open-angle glaucoma and the nail-patella syndrome
    P R Lichter
    Department of Ophthalmology, University of Michigan, Ann Arbor 48105, USA
    Am J Ophthalmol 124:506-15. 1997
    ..To evaluate two families ascertained only for the presence of glaucoma in which both nail-patella syndrome and glaucoma occur in several generations and to determine whether the two diseases are genetically related...
  21. ncbi Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome
    S D Dreyer
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, USA
    Nat Genet 19:47-50. 1998
    ..Chen et al.; ref. 2). These features are reminiscent of the dominantly inherited skeletal malformation nail patella syndrome (NPS)...
  22. ncbi Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome
    D Vollrath
    Department of Genetics, Stanford University, Stanford, CA 94305, USA
    Hum Mol Genet 7:1091-8. 1998
    ..The results further suggest that the NPS and OAG phenotypes in the families studied result from mutations in a single gene, LMX1B...
  23. ncbi Nail patella syndrome in a cytogenetically balanced t(9;17)(q34.1;q25) carrier
    H C Duba
    Institut fur Medizinische Biologie und Humangenetik der Universitat Innsbruck, Austria
    Eur J Hum Genet 6:75-9. 1998
    b>Nail patella syndrome (NPS) is an autosomal dominant disorder characterized by dysplasia of the nails and patella, decreased mobility of the elbow, iliac horns and in some cases nephropathy...
  24. pmc Mutation analysis of LMX1B gene in nail-patella syndrome patients
    I McIntosh
    Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA
    Am J Hum Genet 63:1651-8. 1998
    ..The nature of the mutations supports the hypothesis that NPS is the result of haploinsufficiency for LMX1B. There was no evidence of correlation between aspects of the NPS phenotype and specific mutations...
  25. ncbi Nail patella syndrome revisited: 50 years after linkage
    I McIntosh
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 733 N Broadway BRB 407, Baltimore, MD 21205, USA
    Ann Hum Genet 69:349-63. 2005
    b>Nail Patella Syndrome (NPS; OMIM #161200) is a pleiotropic condition, with a classical clinical tetrad of involvement of the nails, knees, elbows and the presence of iliac horns...
  26. ncbi Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients
    M V Clough
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland 21287 4922, USA
    Hum Mutat 14:459-65. 1999
    ..These findings support the hypothesis that NPS results from a 50% reduction in LMX1B function via a reduction in synthesis, disruption of secondary structure, or failure to bind DNA...
  27. ncbi LMX1B, a LIM homeodomain class transcription factor, is necessary for normal development of multiple tissues in the anterior segment of the murine eye
    C L Pressman
    Department of Biochemistry and Molecular Biology, Program in Genes and Development, The University of Texas, M D Anderson Cancer Center, Houston, Texas 77030, USA
    Genesis 26:15-25. 2000
    ..One such syndrome is nail patella syndrome (NPS), caused by haploinsufficiency for the LIM-homeodomain transcription factor LMX1B...
  28. ncbi LMX1B transactivation and expression in nail-patella syndrome
    S D Dreyer
    Children s Hospital, University of Mainz, Langenbeckstr 1, D 55101 Mainz, Germany
    Hum Mol Genet 9:1067-74. 2000
    ..These mutations fail to act in a dominant-negative manner on wild-type LMX1B in mixing studies, thereby supporting haploinsufficiency as the mechanism underlying NPS pathogenesis...
  29. ncbi Nail-patella syndrome. Overview on clinical and molecular findings
    Ernie M H F Bongers
    Department of Human Genetics, University Medical Centre Nijmegen, Netherlands
    Pediatr Nephrol 17:703-12. 2002
    ..At present evidence for a correlation between the presence and severity of the renal and extrarenal anomalies and LMX1B genotype is lacking. This review focuses on the recent advances in clinical and molecular genetic studies of NPS...
  30. ncbi Confirmation of CLIM2/LMX1B interaction by yeast two-hybrid screening and analysis of its involvement in nail-patella syndrome
    Monica Marini
    Laboratorio di Genetica Molecolare, Istituto G Gaslini, 16148 Genova, Italy
    Int J Mol Med 12:79-82. 2003
    ....
  31. pmc Nail patella syndrome: a review of the phenotype aided by developmental biology
    E Sweeney
    Merseyside and Cheshire Clinical Genetics Service, Royal Liverpool Children s Hospital, Alder Hey, Eaton Road, Liverpool L12 2AP, UK
    J Med Genet 40:153-62. 2003
    b>Nail patella syndrome (NPS) is an autosomal dominant condition affecting the nails, skeletal system, kidneys, and eyes...
  32. ncbi Nail patella syndrome. A 55-year follow-up of the original description
    John A Ogden
    Skeletal Educational Association, Atlanta, Georgia 30305, USA
    J Pediatr Orthop B 11:333-8. 2002
    The long-term skeletal changes and the lack of significant clinical complaints in a 77-year-old woman with nail patella syndrome are described. Fifty-five years previously she was one of the first reported patients...
  33. ncbi Nail-patella syndrome: identification of mutations in the LMX1B gene in Dutch families
    N V Knoers
    Department of Human Genetics, University Hospital Nijmegen, Nijmegen, The Netherlands
    J Am Soc Nephrol 11:1762-6. 2000
    ..In addition, evidence of a correlation between other characteristics of the NPS phenotype and specific mutations has not been found...
  34. ncbi Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome
    H Chen
    Department of Biochemistry and Molecular Biology, U T M D Anderson Cancer Center, Houston, USA
    Nat Genet 19:51-5. 1998
    ..These features are similar to those present in a dominantly inherited human condition called nail patella syndrome (NPS), which also has renal involvement...
  35. ncbi Co-occurrence of familial Mediterranean fever (FMF) heterozygote mutation and nail-patella syndrome (NPS) in 3 members of a family with LMX1B mutation analysis
    S Balci
    Genet Couns 18:259-62. 2007
  36. ncbi [Clinical picture and molecular analysis in a familial case of Nail-Patella Syndrome--identification of a new mutation in LMX1B gene]
    Krzysztof Szczałuba
    Zakład Genetyki Medycznej, Instytut Matki i Dziecka, ul Kasprzaka 17a, 01 211 Warszawa, Poland
    Med Wieku Rozwoj 9:195-203. 2005
    ..Characteristic clinical features, seen in both patients, are discussed within the context of molecular analysis results...
  37. ncbi Deletion of a branch-point consensus sequence in the LMX1B gene causes exon skipping in a family with nail patella syndrome
    J D Hamlington
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore 21287 4922, USA
    Eur J Hum Genet 8:311-4. 2000
    b>Nail patella syndrome (NPS) has been shown to result from loss of function mutations within the transcription factor LMX1B...
  38. ncbi [LMXb1 generates the morphology of podocytes]
    G Deschenes
    Arch Pediatr 9:1002-3. 2002
  39. ncbi Gene symbol: LMX1B. Disease: Nail-Patella syndrome
    Mohammed Al Balwi
    King Abduaziz Medical City, Molecular Pathology, PO Box 22490, MC1122, 11426 Riyadh, Saudi Arabia
    Hum Genet 123:109-10. 2008
  40. doi A novel mutation in LMX1B gene causes nail-patella syndrome in a large Chinese family
    Ying Lin
    Center for Human Molecular Biology and Genetics, Sichuan Academy of Medical Sciences and Sichuan Provincial People s Hospital, Sichuan, China
    Bone 43:591-5. 2008
    ..This is the first report that a mutation in the LMX1B gene causes NPS in a Chinese population, which will expand the spectrum of mutations in the LMX1B gene and provide insight into the underlining pathology of NPS...
  41. ncbi [From gene to disease; the nail-patella syndrome and the LMX1B gene]
    E M H F Bongers
    Universitair Medisch Centrum St Radboud, afd Antropogenetica, Postbus 9101, 6500 HB Nijmegen
    Ned Tijdschr Geneeskd 147:67-9. 2003
    ..At present, no evidence for a correlation between the presence and severity of the clinical anomalies and the LMX1B genotype has been found...
  42. ncbi Gene symbol: LMX1B. Disease: Nail-patella syndrome
    Wei De Lin
    China Medical University Hospital, Department of Medical Genetics, College of Chinese Medicine, China
    Hum Genet 124:295-6. 2008
  43. ncbi Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-Patella syndrome
    Alina T Midro
    Department of Clinical Genetics, Medical University Białystok, Poland
    Am J Med Genet A 124:179-91. 2004
    ..The chromosome 17p11.2 breakpoint maps in the Smith-Magenis syndrome common deletion region, within two overlapping BAC clones, CTD-2354J3 and RP11-311F12...
  44. ncbi Nail-patella syndrome with renal involvement and antecubital pterygia
    Jia Jung Lee
    Division of Nephrology, Department of Internal Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan
    J Formos Med Assoc 101:655-60. 2002
    ..Both daughters also had the characteristic features of NPS. During follow-up 30 months after the initial examination, the patient had stable renal function and mild proteinuria...
  45. ncbi Steroid-responsive nephrotic syndrome in a patient with nail-patella syndrome
    Pankaj Hari
    Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, 110029, India
    Pediatr Nephrol 21:1197-9. 2006
    ..Ultrastructural features of NPS including thickening of the glomerular basement membrane with electron-lucent areas were not found...
  46. ncbi Nail-patella syndrome: long term evolution
    José L Beguiristáin
    Department of Orthopaedics Surgery and Traumatology, School of Medicine, University of Navarra, Pamplona, Spain
    J Pediatr Orthop B 12:13-6. 2003
    ..Patellectomy was performed in the eldest patient due to femoropatellar arthritis present at first consultation. No patients presented with elbow or nail disorders or with iliac horns...
  47. pmc Increased symptoms of attention deficit hyperactivity disorder and major depressive disorder symptoms in Nail-patella syndrome: potential association with LMX1B loss-of-function
    Carmen López-Arvizu
    Department of Psychiatry, Center for Genetic Disorders of Cognition and Behavior, Kennedy Krieger Institute, Baltimore, Maryland 21205, USA
    Am J Med Genet B Neuropsychiatr Genet 156:59-66. 2011
    ..The co-occurrence of these symptoms may be related to mesencephalic dopaminergic neurologic pathway abnormalities that are a consequence of LMX1B loss of function...
  48. ncbi Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndrome
    Silke Schlaubitz
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet A 143:1071-81. 2007
    ..This suggests that the locus 9q33-9q34 can be excluded for GPS and that the presented case is unique in its combination of GPS and NPS features caused by a microdeletion associated with loss of function of LMX1B and NR5A1...
  49. doi Nail-patella syndrome with an emphasis on the risk of renal and ocular findings
    Sandeep Kamath
    Princess of Wales Hospital, Bridgend CF31 1RQ, UK
    Pediatr Dermatol 27:95-7. 2010
    ..She is under regular surveillance by a multi-disciplinary team of genetic counselors, orthopedists, rheumatologists and ophthalmologists. She is currently prescribed enalapril, melatonin and simvastatin...
  50. ncbi Genetic hair and nail disorders
    Eli Sprecher
    Department of Dermatology and the Laboratory of Molecular Dermatology, Rambam Medical Center, Haifa 31096, Israel
    Clin Dermatol 23:47-55. 2005
    ..The present review briefly describes major recent advances in our understanding of hair and nail genodermatoses...
  51. ncbi Nail-patella syndrome associated with Ewing sarcoma
    S C Steens
    Department of Radiology, Leiden University Medical Center, Leiden, The Netherlands
    JBR-BTR 90:214-5. 2007
  52. doi WNT pathways and upper limb anomalies
    M M Al-Qattan
    King Saud University, Riyadh, Saudi Arabia
    J Hand Surg Eur Vol 36:9-22. 2011
    ..dorsal ectoderm) produce several clinically relevant conditions such as the palmar duplication syndrome, nail patella syndrome, ulnar ray deficiency, limb hypoplasia, polysyndactyly and the palmar nail syndrome...
  53. ncbi The human LMX1B gene: transcription unit, promoter, and pathogenic mutations
    Jennifer A Dunston
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD 21287, USA
    Genomics 84:565-76. 2004
    ..Heterozygous loss-of-function mutations in LMX1B cause nail patella syndrome (NPS)...
  54. ncbi Congenital brachydactyly and nail hypoplasia: clue to bone-dependent nail formation
    C S Seitz
    Department of Dermatology, University of Wurzburg, Josef Schneider Str 2, D 97080 Wurzburg, Germany
    Br J Dermatol 152:1339-42. 2005
    ..In conclusion, the association of nail anomalies with aplasia and/or hypoplasia of corresponding middle and/or distal phalanges supports the hypothesis of bone-dependent nail formation...
  55. ncbi Urogenital syndrome (us): a developmental mutation on chromosome 2 of the mouse
    P W Lane
    Jackson Laboratory, Bar Harbor, Maine 04609
    Mamm Genome 4:481-4. 1993
    ..Phenotypic similarities between the two syndromes suggest the possibility that they are caused by mutations at homologous loci...
  56. doi Glomerular basement membrane disorders in experimental models for renal diseases: impact on understanding pathogenesis and improving diagnosis
    Clifford E Kashtan
    Department of Pediatrics, University of Minnesota Medical School, University of Minnesota Amplatz Children s Hospital, Minneapolis, MN 55455, USA
    Contrib Nephrol 169:175-82. 2011
    ..These models can be exploited in studies of the pathogenesis and treatment of such disorders...
  57. doi Manifold functions of the Nail-Patella Syndrome gene Lmx1b in vertebrate development
    Jin Xia Dai
    Institute of Neuroscience, State Key Laboratory of Neuroscience, Chinese Academy of Sciences, Shanghai 200031, China
    Dev Growth Differ 51:241-50. 2009
    ..This review aims to highlight recent insights into the many activities of Lmx1b in vertebrates...
  58. ncbi Human syndromes with congenital patellar anomalies and the underlying gene defects
    E M H F Bongers
    Department of Human Genetics, Radbound University Nijmegen Medical Center, The Netherlands
    Clin Genet 68:302-19. 2005
    ..gene defects of syndromes with congenital patellar aplasia or hypoplasia will be discussed, including the nail patella syndrome, small patella syndrome, isolated patella aplasia hypoplasia, Meier-Gorlin syndrome, RAPADILINO syndrome, ..
  59. pmc c.194 A>C (Q65P) mutation in the LMX1B gene in patients with nail-patella syndrome associated with glaucoma
    Pablo Romero
    Departamento de Oftalmologia, Hospital Clínico José Joaquín Aguirre, Universidad de Chile, Santiago, Chile
    Mol Vis 17:1929-39. 2011
    ....
  60. doi Identification of genes controlled by LMX1B in the developing mouse limb bud
    Dayana Krawchuk
    Laboratory of Neural Circuit Development, Institut de recherches cliniques de Montreal IRCM, QC, Canada
    Dev Dyn 237:1183-92. 2008
    ..Furthermore, our results suggest that LMX1B controls different targets along the proximal-distal axis of the limb, and suggest the existence of a dorsal proximal limb region that is rich in mRNAs requiring Lmx1b for their expression...
  61. doi Genetic disorders of glomerular basement membranes
    Clifford E Kashtan
    Department of Pediatrics, University of Minnesota Medical School, University of Minnesota Amplatz Children s Hospital, 420 Delaware Street SE, Minneapolis, MN 55455, USA
    Nephron Clin Pract 118:c9-c18. 2011
    ..The authors also discuss disorders involving genetic defects in cellular proteins that result in structural defects in glomerular basement membranes (MYH9-related disorders, nail-patella syndrome)...
  62. doi Genetic risk for primary open-angle glaucoma determined by LMX1B haplotypes
    Soo Park
    Developmental Biology Unit, University College London Institute of Child Health and Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom
    Invest Ophthalmol Vis Sci 50:1522-30. 2009
    ..LMX1B mutations cause dominantly-inherited Nail-Patella syndrome in which approximately 33% of patients develop glaucoma. This study investigated the wider role of LMX1B in POAG...
  63. doi Collagen Type III Glomerulopathies
    Arthur H Cohen
    Department of Pathology, Cedars Sinai Medical Center, Los Angeles, California 90048, USA
    Adv Chronic Kidney Dis 19:101-6. 2012
    ..Structural lesions are of collagen type III within glomerular basement membranes, different in distribution to collagenofibrotic glomerulopathy. The clinical course is variable...
  64. ncbi [The nail-patella syndrome: rare genetically determined cause of proteinuria]
    Miłosz Zarzecki
    Katedra i Klinika Nefrologii, Endokrynologii i Chorób Przemiany Materii Śląskiego Uniwersytetu Medycznego w Katowicach
    Pol Arch Med Wewn 116:1192-9. 2006
    ..Clinical features characteristic for this syndrome and observed in both our patients were compared to the data published previously...
  65. ncbi An aid to the diagnosis of genetic disorders underlying adult-onset renal failure: a literature review
    H Joosten
    Department of Internal Medicine and Nephrology, Isala Clinics, Zwolle, The Netherlands
    Clin Nephrol 73:454-72. 2010
    ..2) Not autosomal dominant: Nephronophthisis, Fabry disease, primary oxalosis, Adenine Phosphoribosyl Transferase deficiency, Alport syndrome, Lecithin-cholesterol acyltransferase deficiency, adult-onset cystinosis...
  66. doi Familial nephropathy and multiple exostoses with exostosin-1 (EXT1) gene mutation
    Ian S D Roberts
    Department of Cellular Pathology, John Radcliffe Hospital, Headley Way, Headington, Oxford OX3 9DU, United Kingdom
    J Am Soc Nephrol 19:450-3. 2008
    ..Similar glomerular basement membrane abnormalities could offer an explanation for both the renal ultrastructural changes and steroid-sensitive nephrotic syndrome...
  67. pmc Clinico-genetic study of nail-patella syndrome
    Beom Hee Lee
    Department of Pediatrics, Seoul National University Children s Hospital, Seoul, Korea
    J Korean Med Sci 24:S82-6. 2009
    ....
  68. ncbi Nail-patella syndrome--a preliminary study for genetic linkage with ABO blood group
    Mandovi Chatterjee
    University of Calcutta, Kolkata 700073
    J Indian Med Assoc 108:747-9. 2010
    ..This can be understood from the pedigree analysis of an affected family, which is the first step in studying the molecular pathology of the diseased gene...
  69. doi Nail disorders in children: diagnosis and management
    Bertrand Richert
    Department of Dermatology, University Hospital of Liege, Liege, Belgium
    Am J Clin Dermatol 12:101-12. 2011
    ..Its management should be tailored on a case-by-case basis. Acute trauma should never be underestimated in children and hand surgeons should be involved if necessary. Onychophagia and onychotillomania are responsible for chronic trauma...
  70. pmc Kidney disease in nail-patella syndrome
    Kevin V Lemley
    Division of Nephrology, MS 40, Childrens Hospital Los Angeles, 4650 Sunset Blvd, Los Angeles, CA 90027, USA
    Pediatr Nephrol 24:2345-54. 2009
    ..g. NPHS2, CD2AP), the transription of which is regulated by LMX1B...
  71. pmc Isolated loss of inferior pubic ramus: a case report
    Aly Saber
    Port Fouad General Hospital, Port Fouad, Port Said, Egypt
    J Med Case Reports 2:202. 2008
    ..There are well-known clinical syndromes concerned with hypoplasia of ischiopubic bone, such as small patella syndrome, nail-patella syndrome, ischiopubic-patellar hypoplasia, and ischiopubic hypoplasia...
  72. ncbi [Mendelian molecular genetics in glaucoma]
    D Călugăru
    Clinica de Oftalmologie Cluj Napoca
    Oftalmologia 54:8-20. 2010
    ..Personalized gene therapy has been proposed as an alternative therapeutic strategy for ocular diseases. This approach might be applicable in families with primary congenital glaucoma and defined mutations in the CYP1B1 gene...
  73. pmc How are podocytes affected in nail-patella syndrome?
    Ralph Witzgall
    Pediatr Nephrol 23:1017-20. 2008
    ..LMX1B can serve as a model system to elucidate a genetic program in podocytes...
  74. doi A novel LMX1B nonsense mutation in a family with nail-patella syndrome
    Tomoko Oshimo
    J Dermatol Sci 52:57-60. 2008
  75. doi Fingertip dermatitis refractory to topical corticosteroids associated with nail-patella syndrome
    Shinichiro Sakata
    Nail Clinic, The Skin and Cancer Foundation of Victoria, Carlton, Victoria, Australia
    Australas J Dermatol 49:55-6. 2008
    ..We put forward the possibility of chronic paronychia and fingertip dermatitis, refractory to topical corticosteroids, as associations of digital nail-patella syndrome...
  76. ncbi Nail-Patella syndrome: a case report and anesthetic implications
    Trevor A Hennessey
    Department of Anesthesia, Royal Victoria Hospital, McGill University Health Center, Montreal, Quebec, Canada
    Can J Anaesth 54:835-9. 2007
    ..To report a case of asystole during combined epidural and general anesthesia occurring in a patient with Nail-Patella syndrome (NPS), and to review the management and anesthetic implications of this rare genetic syndrome...
  77. pmc Musculoskeletal case 22. Nail patella syndrome
    Ciaran Keogh
    Department of Radiology, Vancouver General Hospital, BC
    Can J Surg 45:205, 228. 2002
  78. ncbi Bilateral accessory iliac horns: pathognomonic findings in Nail-patella syndrome. Scintigraphic evidence on bone scan
    E Goshen
    Department of Nuclear Medicine, Sheba Medical Center, Tel Hashomer, Israel
    Clin Nucl Med 25:476-7. 2000
    ..A representative image showing these independent ossification on a Tc-99m MDP bone scan is presented. A conventional pelvic radiographic image of the same patient's pelvis is presented for comparison...
  79. ncbi An update on disorders of the nails
    Maithily A Nandedkar-Thomas
    Dermatology Associates of Northern Virginia, Sterling, Virginia 20165, USA
    J Am Acad Dermatol 52:877-87. 2005
  80. ncbi Bilateral absence of the patella in nail-patella syndrome: delayed presentation with anterior knee instability
    Alexandros N Mavrodontidis
    Department of Orthopaedic Surgery, School of Medicine, University of Ioannina, Ioannina, Greece
    Arthroscopy 20:e89-93. 2004
    ..It should be noted that anterior instability has been described after patellectomy and could be attributed to complete absence of the patella, which is rare in NPS...
  81. pmc Nail-patella syndrome in Saudi Arabia with new features and surgical procedures: the first described study
    Abdullah H A Juma
    Department of Orthopaedics, Faculty of Medicine, King Abdul Aziz University, Jeddah, Kingdom of Saudi Arabia
    MedGenMed 6:6. 2004
    ..In conclusion, NPS, although rare, presents a complex problem and unexpected surgical outcome, and we recommend this procedure with close follow-up...
  82. ncbi Nail changes in genodermatoses
    Susanna K Fistarol
    Departement of Dermatology, University Hospital Basel, Petersgraben 4, 4031 Basel, Switzerland
    Eur J Dermatol 12:119-28. 2002
    ..Using nail changes in selected genodermatoses with a known genetic background, we try to elucidate the genesis of inherited nail disorders and review the resultant clinical manifestations...
  83. ncbi Nail-patella syndrome
    Beth A Schulz-Butulis
    Dermatology Service, Walter Reed Army Medical Center, 6900 Georgia Avenue NW, Washington, DC 20307 5001, USA
    J Am Acad Dermatol 49:1086-7. 2003
  84. ncbi Noncompaction on cardiac MRI in a patient with nail-patella syndrome and mitochondriopathy
    Josef Finsterer
    Cardiology 100:48-9. 2003
  85. ncbi The association of Buschke-Ollendorf syndrome and nail-patella syndrome
    Christian Allen Drouin
    Centre hospitalier du Grand Portage, 75 rue St Henri, Rivière du Loup, Quebec G5R 2A4, Canada
    J Am Acad Dermatol 46:621-5. 2002
    ..Furthermore, this young patient is also affected by a chronic idiopathic neutropenia usually not observed in Buschke-Ollendorf syndrome or nail-patella syndrome...
  86. ncbi [Clinical, radiological and arthroscopical aspects in nail patella syndrome. Literature review based on an affected family]
    P Niemeyer
    Department für Orthopädie und Traumatologie, Universitatsklinikum Freiburg
    Orthopade 35:197-203. 2006
    b>Nail patella syndrome (NPS) is an autosomal dominant hereditary disorder affecting the nails, skeletal system, kidneys, and eyes...
  87. ncbi [Ocular involvement in nail-patella syndrome (#161200)]
    S J Frohlich
    Augenklinik der Ludwig Maximilians Universitat, Munchen, Kooperationsgruppe Ophthalmogenetik
    Ophthalmologe 99:281-5. 2002
    ..The underlying defect of the LMX1B gene is localised on chromosome 9q34 and causes various typical clinical signs such as onychodysplasia, patella hypoplasia, renal involvement and open angle glaucoma...
  88. ncbi Bilateral recurrent patellar dislocation in a patient with isolated patella aplasia-hypoplasia
    Eiki Nomura
    Department of Orthopaedic Surgery, Kawasaki Municipal Hospital, Kawasaki, Japan
    Arthroscopy 23:1136.e1-4. 2007
    ..Magnetic resonance images showed both patellae without subluxation and bulky regenerated ligaments...
  89. ncbi Renal phenotype in heterozygous Lmx1b knockout mice (Lmx1b+/-) after unilateral nephrectomy
    Sabine Endele
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, University Hospital Erlangen, Schwabachanlage 10, 91054 Erlangen, Germany
    Transgenic Res 16:723-9. 2007
    ..Moreover, this is the first report of a phenotype in heterozygous Lmx1b (Lmx1b ( +/-)) knockout animals...
  90. ncbi Rare forms of hyperhidrosis
    Oliver P Kreyden
    Department of Dermatology, University Hospital of Zurich, Switzerland
    Curr Probl Dermatol 30:178-87. 2002
  91. ncbi Role of transcription factors in podocytes
    Anne Rascle
    Institute for Molecular and Cellular Anatomy, University of Regensburg, Regensburg, Germany
    Nephron Exp Nephrol 106:e60-6. 2007
    ..Other transcription factors such as hypoxia-inducible factors and PAX2 are likely to play a role in podocytes, whereas the significance of others, e.g. of POD1 and CITED2, is more speculative at this point...
  92. doi Identification of genes controlled by LMX1B in E13.5 mouse limbs
    Wendy X W Gu
    Neural Circuit Development Laboratory, Institut de recherches cliniques de Montreal IRCM, 110 avenue des Pins Ouest, Montreal, QC, Canada, H2W 1R7
    Dev Dyn 239:2246-55. 2010
    ..5 mouse Lmx1b mutant and wild-type limbs. We report 14 genes that require Lmx1b for their normal expression in the dorsal limb or the restriction of their expression to the ventral limb...
  93. ncbi Multiple triangular lunula unguis: a specific finding for the nail-patella syndrome
    Jon A Dyer
    University of Missouri, USA
    Mo Med 104:506-8. 2007
    ....
  94. pmc Novel LMX1B mutation in familial nail-patella syndrome with variable expression of open angle glaucoma
    Elena Milla
    Departamento de Oftalmologia, Hospital Clinic de Barcelona, Barcelona, Spain
    Mol Vis 13:639-48. 2007
    ..To describe the genetic and clinical findings in a large Spanish pedigree with nail-patella syndrome (NPS) and to investigate the expressivity of open angle glaucoma (OAG) in the family members...
  95. ncbi Complete heart block associated with noncompaction, nail-patella syndrome, and mitochondrial myopathy
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Vienna, Austria
    J Electrocardiol 40:352-4. 2007
    ..Complete heart block has not been reported in association with left ventricular hypertrabeculation (LVHT)/noncompaction, nail-patella syndrome (NPS), and mitochondrial myopathy (MMP)...
  96. doi Banded collagen in the kidney with special reference to collagenofibrotic glomerulopathy
    Shaila R Khubchandani
    Jaslok Hospital and Research Center, Bhatia Hospital, Mumbai, India
    Ultrastruct Pathol 34:68-72. 2010
    ..These are characterized by deposition of banded collagen fibers in the glomerulus...
  97. ncbi Nail-patella syndrome--renal and musculo-skeletal features
    Nitin Kolhe
    Department of Renal Medicine, Leeds General Infirmary, Leeds, UK
    Nephrol Dial Transplant 17:169-70. 2002
  98. ncbi Bilateral hip dislocation and pubic diastasis in familial nail-patella syndrome
    David J Jacofsky
    Department of Orthopedics, Mayo Clinic and Mayo Foundation, Rochester, Minn 55905, USA
    Orthopedics 26:329-30. 2003
  99. ncbi LMX1B 17-bp deletion and A3243G mtDNA transition in a previously described patient
    Josef Finsterer
    Neurological Hospital Rosenhugel, KA Rudolfstiftung, Vienna, Austria
    Eur Neurol 49:186-7. 2003
  100. doi Crescentic glomerulonephritis associated with nail-patella syndrome in a 13-year-old girl
    Metin K Gurgoze
    Department of Pediatric Nephrology, Erciyes University Faculty of Medicine, Kayseri, Turkey
    Pediatr Int 50:409-12. 2008
  101. pmc Localization of a gene for familial patella aplasia-hypoplasia (PTLAH) to chromosome 17q21-22
    M Mangino
    Dipartimento di Biopatologia e Diagnostica per Immagini, Università di Roma Tor Vergata and Istituto CSS Mendel, Rome, Italy
    Am J Hum Genet 65:441-7. 1999
    ..39, with a most likely location for the disease gene between D17S787 and D17S1604. Sequencing of the noggin gene, a candidate mapping between these markers, failed to reveal any mutation in affected subjects...

Research Grants32

  1. Mechanisms of Veterbrate Dorsal-ventral Limb Patterning
    Randy L Johnson; Fiscal Year: 2010
    ..As individuals with mutations in LMX1B are at risk for renal failure and glaucoma our research will also impact important heath concerns. ..
  2. Mechanisms of Veterbrate Dorsal-ventral Limb Patterning
    Randy Johnson; Fiscal Year: 2009
    ..As individuals with mutations in LMX1B are at risk for renal failure and glaucoma our research will also impact important heath concerns. ..
  3. Mechanisms of Veterbrate Dorsal-ventral Limb Patterning
    Randy Johnson; Fiscal Year: 2007
    ..As individuals with mutations in LMX1B are at risk for renal failure and glaucoma our research will also impact important heath concerns. ..
  4. Mechanisms of Ocular Morphogenesis The anterior segment
    Randy Johnson; Fiscal Year: 2005
    ..that mutations in the LIM-homeodomain transcription factor LMX1B cause a congenital disease caused nail patella syndrome. This disease affects the development of the limbs and results in renal failure and early onset open angle ..
  5. GLOMERULAR PERMSELECTIVITY IN ALPORT SYNDROME
    Clifford Kashtan; Fiscal Year: 2004
    ..This trial will compare urinary protein levels, kidney function, and renal structural changes in treated and untreated dogs. ..
  6. PREFACULTY TRAINING IN PEDIATRIC NEPHROLOGY
    Clifford Kashtan; Fiscal Year: 2007
    ..The program remains deeply committed to the development of academic pediatric nephrologists, who continue to be in short supply throughout the nation, and to the preparation of women and minorities for these positions ..
  7. MOLECULAR GENETICS OF OPEN ANGLE GLAUCOMA
    Douglas Vollrath; Fiscal Year: 2007
    ....
  8. Genetic model of retinal pigment epithelium degeneration
    Douglas Vollrath; Fiscal Year: 2005
    ....
  9. COLLABORATIVE STUDY OF INITIAL GLAUCOMA TREATMENT
    PAUL LICHTER; Fiscal Year: 2003
    ....
  10. MOLECULAR GENETICS OF NAIL PATELLA SYNDROME
    Iain McIntosh; Fiscal Year: 1999
    The nail patella syndrome (NPS) represents a classic example of pleiotropy, exhibiting nail dysplasia, hypoplasia of the patella, radial head and scapula, iliac exostoses, club foot deformities and, occasionally, nephritis and ocular ..
  11. MOLECULAR GENETICS OF NAIL PATELLA SYNDROME
    Iain McIntosh; Fiscal Year: 2004
    b>Nail Patella Syndrome (NPS) is a diverse phenotype inherited in an autosomal dominant manner. The syndrome is characterized by dysplasia of the nails, patellae and elbows, as well as open angle glaucoma and potentially lethal nephropathy...
  12. Urinary Podocyte Excretion Using FACS Methodology
    Kevin Lemley; Fiscal Year: 2003
    ..e. is podocyturia an earlier biomarker of incipient nephropathy? and 2) do the responses of albuminuria and podocyturia to treatment with angiotensin-converting enzyme inhibitors differ? ..