x linked genetic diseases

Summary

Summary: Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases.

Top Publications

  1. ncbi Cardiac and clinical phenotype in Barth syndrome
    Carolyn T Spencer
    Congenital Heart Center, University of Florida College of Medicine, PO Box 100296, Gainesville, FL 32610 0296, USA
    Pediatrics 118:e337-46. 2006
  2. ncbi Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus
    Baorong Zhang
    Department of Neurology, Second Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, China
    Mol Vis 13:1674-9. 2007
  3. ncbi Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene
    Y Kaplan
    Department of Neurology, Gaziosmanpasa University, Medical Faculty, Tokat, Turkey
    Br J Ophthalmol 92:135-41. 2008
  4. ncbi Identification of a novel GPR143 deletion in a Chinese family with X-linked congenital nystagmus
    Pingtong Zhou
    Institute of Health Sciences, Shanghai Institutes for Biological Sciences SIBS, Chinese Academy of Sciences CAS and Shanghai Jiao Tong University School of Medicine SJTUSM, Shanghai, China
    Mol Vis 14:1015-9. 2008
  5. ncbi X-linked G6PD deficiency protects hemizygous males but not heterozygous females against severe malaria
    Aldiouma Guindo
    Malaria Research and Training Center, Faculty of Medicine, Pharmacy, and Odontostomatology, University of Bamako, Mali
    PLoS Med 4:e66. 2007
  6. ncbi Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online
    Daniel F Schorderet
    Institut de Recherche en Ophtalmologie, Sion, Switzerland
    Hum Mutat 28:525. 2007
  7. ncbi RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa
    Dror Sharon
    Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA
    Am J Hum Genet 73:1131-46. 2003
  8. ncbi Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions
    Shiwani Sharma
    Department of Opthalmology, Flinders University, Australia
    Hum Mol Genet 15:1972-83. 2006
  9. ncbi Clinical and molecular findings in IPEX syndrome
    A K Myers
    National Centre for Medical Genetics, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland
    Arch Dis Child 91:63-4. 2006
  10. ncbi A novel locus for X-linked congenital cataract on Xq24
    Jamie E Craig
    Department of Ophthalmology, Flinders University, Adelaide, SA, Australia
    Mol Vis 14:721-6. 2008

Research Grants

  1. GENETIC STUDIES OF HUMAN CELLS
    BARBARA MIGEON; Fiscal Year: 2001
  2. DEVELOPMENTAL AND GENETIC DEFECTS OF IMMUNITY
    Hans Ochs; Fiscal Year: 2007
  3. THE GENOTYPE AND PHENOTYPE AMELOGENESIS IMPERFECTA
    John Wright; Fiscal Year: 2004
  4. MODIFYING GENE DETERMINANTS OF TOOTH AND BONE PHENOTYPES
    John Wright; Fiscal Year: 2007
  5. Phenotype and Gene Expression in Odontogenic Tumors
    John Wright; Fiscal Year: 2007
  6. A Canine Model for Human X-Linked Ectodermal Dysplasia
    Margret Casal; Fiscal Year: 2007
  7. GENETIC STUDIES OF HUMAN SOMATIC CELLS
    BARBARA MIGEON; Fiscal Year: 1993
  8. GENETIC STUDIES OF HUMAN SOMATIC CELLS
    BARBARA MIGEON; Fiscal Year: 1980
  9. Phenotype and Gene Expression in Odontogenic Tumors
    JOHN T WRIGHT; Fiscal Year: 2010
  10. GENETIC STUDIES OF HUMAN SOMATIC CELLS
    BARBARA MIGEON; Fiscal Year: 1990

Detail Information

Publications173 found, 100 shown here

  1. ncbi Cardiac and clinical phenotype in Barth syndrome
    Carolyn T Spencer
    Congenital Heart Center, University of Florida College of Medicine, PO Box 100296, Gainesville, FL 32610 0296, USA
    Pediatrics 118:e337-46. 2006
    ..We sought to evaluate extent of cardioskeletal myopathy, potential for arrhythmia, delays in growth, and biochemical correlates of disease severity in patients with this disorder...
  2. ncbi Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus
    Baorong Zhang
    Department of Neurology, Second Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, China
    Mol Vis 13:1674-9. 2007
    ..Recently, the FRMD7 gene mutation has been identified as the genetic cause of CMN. The purpose of this study was to identify mutations of the FRMD7 gene in Chinese patients with CMN...
  3. ncbi Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene
    Y Kaplan
    Department of Neurology, Gaziosmanpasa University, Medical Faculty, Tokat, Turkey
    Br J Ophthalmol 92:135-41. 2008
    ..This study aimed to identify the underlying genetic defect of a large Turkish X linked nystagmus (NYS) family...
  4. ncbi Identification of a novel GPR143 deletion in a Chinese family with X-linked congenital nystagmus
    Pingtong Zhou
    Institute of Health Sciences, Shanghai Institutes for Biological Sciences SIBS, Chinese Academy of Sciences CAS and Shanghai Jiao Tong University School of Medicine SJTUSM, Shanghai, China
    Mol Vis 14:1015-9. 2008
    ..To map and identify the genetic mutation underlying X-linked congenital nystagmus in a Chinese family...
  5. ncbi X-linked G6PD deficiency protects hemizygous males but not heterozygous females against severe malaria
    Aldiouma Guindo
    Malaria Research and Training Center, Faculty of Medicine, Pharmacy, and Odontostomatology, University of Bamako, Mali
    PLoS Med 4:e66. 2007
    ..These proposals are paradoxical, and they are not consistent with currently hypothesized mechanisms of protection...
  6. ncbi Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online
    Daniel F Schorderet
    Institut de Recherche en Ophtalmologie, Sion, Switzerland
    Hum Mutat 28:525. 2007
    ..who identified mutations in FRMD7, a gene of unclear function. We report five novel mutations in FRMD7 and confirm the role of this gene in the pathogenesis of X-linked congenital nystagmus...
  7. ncbi RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa
    Dror Sharon
    Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA
    Am J Hum Genet 73:1131-46. 2003
    ..Furthermore, as the length of the abnormal amino acid sequence following ORF15 frameshift mutations increased, the severity of disease increased...
  8. ncbi Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions
    Shiwani Sharma
    Department of Opthalmology, Flinders University, Australia
    Hum Mol Genet 15:1972-83. 2006
    ..This study suggests that disturbances in intercellular contacts underlie cataractogenesis in the Nance-Horan syndrome. NHS is the first gene localized at TJs that has been implicated in congenital cataracts...
  9. ncbi Clinical and molecular findings in IPEX syndrome
    A K Myers
    National Centre for Medical Genetics, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland
    Arch Dis Child 91:63-4. 2006
    ..Two new patients in whom IPEX was diagnosed retrospectively are reported...
  10. ncbi A novel locus for X-linked congenital cataract on Xq24
    Jamie E Craig
    Department of Ophthalmology, Flinders University, Adelaide, SA, Australia
    Mol Vis 14:721-6. 2008
    ..This study aimed to map the genetic locus responsible for a novel X-linked congenital cataract phenotype...
  11. ncbi Prenatal diagnosis in a family with X-linked hydrocephalus
    Maria Panayi
    National Genetics Reference Laboratory, Regional Genetics Service, St Mary s Hospital, Manchester, UK
    Prenat Diagn 25:930-3. 2005
    ..We have characterised a rare intragenic deletion of the L1CAM gene in a sample of DNA extracted from a chorionic villus biopsy (CVB) performed at 12 weeks' gestation. =..
  12. ncbi RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa
    A Moore
    Institut National de la Santé et de la Recherche Médicale U 654, Hopital Henri Mondor, Creteil, France
    J Med Genet 43:326-33. 2006
    ..The family history prompted us to search for an X linked gene that could account for both conditions...
  13. ncbi Unregulated actin polymerization by WASp causes defects of mitosis and cytokinesis in X-linked neutropenia
    Dale A Moulding
    Wolfson Centre for Gene Therapy of Childhood Disease, UCL Institute of Child Health, University College London, London, UK
    J Exp Med 204:2213-24. 2007
    ..These findings reveal a novel mechanism for inhibition of myelopoiesis through defective mitosis and cytokinesis due to hyperactivation and mislocalization of actin polymerization...
  14. ncbi Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population
    Robert Dobrovolny
    Institute of Inherited Metabolic Diseases, First Faculty of Medicine, Charles University, Ke Karlovu 2, Prague 2, 128 08 Czech Republic
    J Mol Med 83:647-54. 2005
    ....
  15. ncbi Truncating mutation in the NHS gene: phenotypic heterogeneity of Nance-Horan syndrome in an asian Indian family
    Vedam Lakshmi Ramprasad
    Department of Genetics and Molecular Biology, Vision Research Foundation, Sankara Nethralaya, Chennai, India
    Invest Ophthalmol Vis Sci 46:17-23. 2005
    ..Some members in the family had mild to moderate nonocular clinical features suggestive of Nance-Horan syndrome. The purpose of the study was to map genetically the gene in the large 57-live-member Asian-Indian pedigree...
  16. ncbi Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations
    Joyce So
    Max Planck Institute for Molecular Genetics, Berlin, Germany
    Am J Med Genet A 132:1-7. 2005
    ..This study demonstrates the wide spectrum of severity and manifestations of OS. It also shows that XLOS patients with MID1 mutations may be less severely affected than indicated in prior reports...
  17. ncbi Refinement of the X-linked cataract locus (CXN) and gene analysis for CXN and Nance-Horan syndrome (NHS)
    Simon Brooks
    Division of Molecular Genetics Institute of Ophthalmology 11 43 Bath Street London EC1V 9EL UK
    Ophthalmic Genet 25:121-31. 2004
    ..A further three candidates were excluded based on sequence analysis. Future positional cloning efforts will focus on the region of overlap between CXN, Xcat, and NHS...
  18. ncbi A frameshift mutation in RPGR exon ORF15 causes photoreceptor degeneration and inner retina remodeling in a model of X-linked retinitis pigmentosa
    William A Beltran
    James A. Baker Institute for Animal Health, College of Veterinary Medicine, Cornell University, Ithaca, New York, USA
    Invest Ophthalmol Vis Sci 47:1669-81. 2006
    ..The results suggest that therapeutic strategies for this retinal degeneration should target not solely photoreceptor cells but also inner retinal neurons...
  19. ncbi Mutational screening of the RP2 and RPGR genes in Spanish families with X-linked retinitis pigmentosa
    Maria Garcia-Hoyos
    Department of Medical Genetics, Fundacion Jimenez Diaz, Madrid, Spain
    Invest Ophthalmol Vis Sci 47:3777-82. 2006
    ..Five XLRP loci have been mapped, although only two genes, RPGR (for RP3) and RP2, have been cloned. In this study, 30 unrelated XLRP Spanish families were screened to determine the molecular cause of the disease...
  20. ncbi Identification of Bruton tyrosine kinase mutations in 12 Chinese patients with X-linked agammaglobulinaemia by long PCR-direct sequencing
    K-W Chan
    Department of Paediatrics and Adolescent Medicine, The University of Hong Kong
    Int J Immunogenet 33:205-9. 2006
    ..Future clinical and genetic information from the undiagnosed Chinese XLA patients may provide insight into the genotype-phenotype correlations of BTK gene...
  21. ncbi A population-based epidemiological and genetic study of X-linked retinitis pigmentosa
    Holger Prokisch
    Institute of Human Genetics, Technical University of Munich, Munich, Germany
    Invest Ophthalmol Vis Sci 48:4012-8. 2007
    ..To perform a nation-wide elucidation of the prevalence and the mutation spectrum in X-linked retinitis pigmentosa (XLRP), and to make genotype-phenotype comparisons...
  22. ncbi Allelic variation of the FRMD7 gene in congenital idiopathic nystagmus
    James E Self
    Clinical Neurosciences Division, University of Southampton, Southampton, England
    Arch Ophthalmol 125:1255-63. 2007
    ..To perform a genotype-phenotype correlation study in an X-linked congenital idiopathic nystagmus pedigree (pedigree 1) and to assess the allelic variance of the FRMD7 gene in congenital idiopathic nystagmus...
  23. ncbi Identification of three novel NHS mutations in families with Nance-Horan syndrome
    Kristen M Huang
    F M Kirby Center for Molecular Ophthalmology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
    Mol Vis 13:470-4. 2007
    ..The purpose of this study was to identify the frequency and distribution of NHS gene mutations and compare genotype with Nance-Horan phenotype in five North American NHS families...
  24. ncbi A potential screening tool for IPEX syndrome
    Meredith Lee Heltzer
    Division of Allergy and Immunology, Department of Pediatrics, University of Pennsylvania School of Medicine, The Children s Hospital of Philadelphia, Philadelphia, PA, USA
    Pediatr Dev Pathol 10:98-105. 2007
    ..This screening test provides a valuable tool for diagnosing IPEX syndrome in extremely ill patients who may not tolerate a delay in therapeutic intervention...
  25. ncbi Identification of two novel mutations in families with X-linked ocular albinism
    Alessandro Iannaccone
    Retinal Degeneration and Ophthalmic Genetics Service, Hamilton Eye Institute, Department of Ophthalmology, University of Tennessee Health Science Center, Memphis, TN, USA
    Mol Vis 13:1856-61. 2007
    ..Both families had previously tested negative for mutations...
  26. ncbi X-linked agammaglobulinemia: report on a United States registry of 201 patients
    Jerry A Winkelstein
    United States Immune Deficiency Network, Immune Deficiency Foundation, Johns Hopkins University School of Medicine, Baltimore, MD, USA
    Medicine (Baltimore) 85:193-202. 2006
    ....
  27. ncbi The molecular etiologies and associated phenotypes of amelogenesis imperfecta
    J Timothy Wright
    Department of Pediatric Dentistry, School of Dentistry, The University of North Carolina, Chapel Hill, North Carolina 27599, USA
    Am J Med Genet A 140:2547-55. 2006
    ..Our current knowledge of the known mutations and associated phenotypes of the different AI subtypes are reviewed...
  28. ncbi Transcriptional adaptation to Clcn5 knockout in proximal tubules of mouse kidney
    Jerry Wright
    Department of Medicine, Johns Hopkins School of Medicine, Johns Hopkins University, Baltimore, Maryland, USA
    Physiol Genomics 33:341-54. 2008
    ..The fingerprint of these gene changes may help us to understand the phenotype of Dent disease...
  29. ncbi Defective regulatory and effector T cell functions in patients with FOXP3 mutations
    Rosa Bacchetta
    San Raffaele Telethon Institute for Gene Therapy HSR TIGET, Milan, Italy
    J Clin Invest 116:1713-22. 2006
    ....
  30. ncbi IPEX and the role of Foxp3 in the development and function of human Tregs
    Severine Le Bras
    Division of Immunology, Children s Hospital, and Department of Pediatrics, Harvard Medical School, Boston, Massachusetts 02115, USA
    J Clin Invest 116:1473-5. 2006
    ....
  31. ncbi Mapping a new genetic locus for X linked retinitis pigmentosa to Xq28
    A Melamud
    J Med Genet 43:e27. 2006
    ..06, 2.17, and 2.20, respectively. Haplotype analysis revealed segregation of the disease phenotype with markers at Xq28...
  32. ncbi Inheritance of most X-linked traits is not dominant or recessive, just X-linked
    William B Dobyns
    Department of Human Genetics, The University of Chicago, Chicago, Illinois 60637, USA
    Am J Med Genet A 129:136-43. 2004
    ..We recommend that use of the terms X-linked recessive and dominant be discontinued, and that all such disorders be simply described as following "X-linked" inheritance...
  33. ncbi Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome
    L Pinson
    J Med Genet 41:381-6. 2004
  34. ncbi Clinical findings leading to the diagnosis of X-linked agammaglobulinemia
    Mary Ellen Conley
    Department of Immunology, St Jude Children's Research Hospital, University of Tennessee College of Medicine, Memphis, Tennesee 38105, USA
    J Pediatr 141:566-71. 2002
    ....
  35. ncbi Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families
    Robert K Koenekoop
    McGill Ocular Genetics Laboratory, Montreal, Quebec, Canada
    Am J Ophthalmol 136:678-87. 2003
    ..To characterize the molecular defects in two x-linked retinitis pigmentosa (RP) families. We hypothesized that different RPGR mutations result in distinct RP phenotypes...
  36. ncbi Relationship of phenotype and genotype in X-linked amelogenesis imperfecta
    J T Wright
    Department of Pediatric Dentistry, School of Dentistry, University of North Carolina, Chapel Hill, North Carolina 27599, USA
    Connect Tissue Res 44:72-8. 2003
    ..The phenotype-genotype correlations in this study suggest there are important functional domains of the amelogenin molecule that are critical for the development of normal enamel structure, composition, and thickness...
  37. ncbi X-linked agammaglobulinemia: a survey of 33 Iranian patients
    Mostafa Moin
    Department of Allergy and Clinical Immunology of Children s Medical Center, Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran
    Immunol Invest 33:81-93. 2004
    ..9%, 75.8%, 33.3%, and 21.2% of XLA patients, respectively. The most common complications of these patients were chronic infections in 75.8% of them, including: chronic otitis media, chronic sinusitis, chronic diarrhea, and bronchiectasis...
  38. ncbi Ten novel ORF15 mutations confirm mutational hot spot in the RPGR gene in European patients with X-linked retinitis pigmentosa
    Carsten M Pusch
    Abteilung für Pathophysiologie des Sehens und Neuroophthalmologie, Universitäts Augenklinik Tübingen, Schleichstr 12 16, 72076 Tubingen, Germany
    Hum Mutat 20:405. 2002
    ..2002]. The observed prevalence is sufficient to justify an initial mutation screening of ORF15 in the genetically heterogeneous group of XLRP...
  39. ncbi Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing
    Christian A Hübner
    Institute of Human Genetics, University Hospital Eppendorf, Hamburg, Germany
    Hum Mutat 23:526. 2004
    ..1547-13delC mutation creates a new acceptor site resulting in the insertion of 4 additional amino acids at the end of the immunoglobulin like domain 5. In contrast, c.3323-17dupG and c.3457+18C>T seem to be non-pathogenic L1CAM variants...
  40. ncbi Dominant, gain-of-function mutant produced by truncation of RPGR
    Dong Hyun Hong
    Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts 02114, USA
    Invest Ophthalmol Vis Sci 45:36-41. 2004
    ..Mutations in the X-linked RPGR gene have generally been assumed to be recessive. This study was undertaken to investigate whether certain mutant RPGR alleles may act dominantly...
  41. ncbi Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy
    Christopher R Pierson
    Department of Pathology, Division of Neuropathology, Children s Hospital Boston and Brigham, 300 Longwood Avenue, Boston, MA 02115, USA
    Neuromuscul Disord 17:562-8. 2007
    ..Failure to attain and/or maintain myofiber size, along with fiber type perturbations and the misplacement of myofiber nuclei and other organelles, are important components of XLMTM muscle pathology...
  42. ncbi Genotype-phenotype correlations in X-linked myotubular myopathy
    Meriel McEntagart
    Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK
    Neuromuscul Disord 12:939-46. 2002
    ..The high survival rate for this disorder therefore reflects intensive medical intervention without which the majority of these boys would not survive...
  43. ncbi A non-ancestral RPGR missense mutation in families with either recessive or semi-dominant X-linked retinitis pigmentosa
    Eyal Banin
    Department of Ophthalmology, Hadassah Hebrew University Medical Center, Jerusalem, Israel
    Am J Med Genet A 143:1150-8. 2007
    ..Our results indicate that an additional gene (or genes), linked to RPGR, modulate disease expression in severely affected carriers. These may be related to the high myopia concomitantly found in affected carriers from the Israeli family...
  44. ncbi Insights into X-linked retinitis pigmentosa type 3, allied diseases and underlying pathomechanisms
    Paulo A Ferreira
    Departments of Ophthalmology, Duke University Medical Center, Erwin Road, Durham, NC 27710, USA
    Hum Mol Genet 14:R259-67. 2005
    ....
  45. ncbi Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling
    Valerie Pelletier
    Unité de Recherches Génétique et Epigénétique des Maladies Métaboliques, Neurosensorielles et du Développement, Institut Nationale de la Santé et de la Recherche Médicale INSERM U781, Hopital Necker Enfants Malades, Paris, France
    Hum Mutat 28:81-91. 2007
    ....
  46. ncbi X-chromosome inactivation and human genetic disease
    M F Lyon
    MRC Mammalian Genetics Unit, Harwell, Didcot, Oxfordshire, UK
    Acta Paediatr Suppl 91:107-12. 2002
    ..The occurrence of this normal process affects the phenotype seen in females carrying X-linked mutant genes or chromosome anomalies...
  47. ncbi Amelogenesis imperfecta: a classification and catalogue for the 21st century
    M J Aldred
    Department of Dentistry, Royal Children s Hospital, Melbourne, Australia
    Oral Dis 9:19-23. 2003
    ..We argue that this system is of more benefit to these individuals and families than previous classifications...
  48. ncbi [Unusual good prognosis for X-linked myotubular myopathy]
    S Chanzy
    Service de pédiatrie et néonatologie, centre hospitalier d Orsay, 91401 Orsay, France
    Arch Pediatr 10:707-9. 2003
    ..The reaction of the parents was to avoid any relationship with medical care. Ten years later the patient was seen in relatively good health thus proving that the evolution was more favourable than anticipated...
  49. ncbi X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15
    Ingrid Bader
    Institute of Human Genetics, National Research Center for Environment and Health GSF, Neuherberg, Germany
    Invest Ophthalmol Vis Sci 44:1458-63. 2003
    ..The frequency of RPGR mutations was assessed in families with definite X-linked recessive disease (xlRP), and a strategy for analyzing the highly repetitive mutational hot spot in exon ORF15 is provided...
  50. ncbi X-linked myotubular myopathy in a female infant caused by a new MTM1 gene mutation
    Ulrike Schara
    Department of Pediatrics and Pediatric Neurology, Ruhr University Bochum, Germany
    Neurology 60:1363-5. 2003
    ..The authors describe a now 5-year-old girl with prenatal/neonatal onset of an X-linked myotubular myopathy due to a 605delT mutation in the myotubularin gene...
  51. ncbi X-linked myotubular myopathy in a family with three adult survivors
    S Yu
    Department of Laboratory Genetics, Women s and Children s Hospital, North Adelaide, Adelaide, Australia
    Clin Genet 64:148-52. 2003
    ..To our knowledge, this is the third X-linked myotubular myopathy family, with multiple adult survivors, to be reported in the literature...
  52. ncbi Gene expression analyses in X-linked myotubular myopathy
    S Noguchi
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4 1 1 Ogawahigashi, Kodaira, Tokyo, 187 8502, Japan
    Neurology 65:732-7. 2005
    ..Analysis of MTM1 knocked-out mice indicates that the characteristic small fibers in XLMTM muscles are due to atrophy rather than hypoplasia...
  53. ncbi Molecular mechanisms and neuroimaging criteria for severe L1 syndrome with X-linked hydrocephalus
    Yonehiro Kanemura
    Institute for Clinical Research and Department of Neurosurgery, Osaka National Hospital, Osaka, Japan
    J Neurosurg 105:403-12. 2006
    ....
  54. ncbi Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families
    Neil D Ebenezer
    Division of Molecular Genetics, University College London, UK
    Invest Ophthalmol Vis Sci 46:1891-8. 2005
    ....
  55. ncbi RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections
    I Zito
    J Med Genet 40:609-15. 2003
  56. ncbi FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus
    Qingjiong Zhang
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, China
    Mol Vis 13:1375-8. 2007
    ..To identify mutations causing X-linked congenital motor nystagmus (XL-CMN) in Chinese families...
  57. ncbi Identification of a novel RPGR exon ORF15 mutation in a family with X-linked retinitis pigmentosa
    Zi Bing Jin
    Department of Ophthalmology and Visual Science, Faculty of Medicine, University of Miyazaki, Kihara 5200, Kiyotake, Miyazaki 889 1692, Japan
    Arch Ophthalmol 125:1407-12. 2007
    ..To investigate the phenotypic and genotypic characteristics of a novel mutation associated with X-linked retinitis pigmentosa (XLRP)...
  58. ncbi Retinal histopathology of an XLRP carrier with a mutation in the RPGR exon ORF15
    Gustavo D Aguirre
    James A Baker Institute for Animal Health, College of Veterinary Medicine, Cornell University, Ithaca, NY 14853, USA
    Exp Eye Res 75:431-43. 2002
    ....
  59. ncbi A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family
    Xiang He
    Department of Genetics, National Research Institute for Family Planning, Beijing, China
    Mol Vis 14:56-60. 2008
    ..To identify the gene responsible for causing an X-linked idiopathic congenital nystagmus (XLICN) in a six-generation Chinese family...
  60. ncbi Discordant phenotypes in fraternal twins having an identical mutation in exon ORF15 of the RPGR gene
    Saloni Walia
    Department of Ophthamology and Visual Sciences, University of Illinois, Chicago 60612 7234, USA
    Arch Ophthalmol 126:379-84. 2008
    ....
  61. ncbi Retinal phenotype of an X-linked pseudo-Usher syndrome in association with the G173R mutation in the RPGR gene
    Alessandro Lannaccone
    Hamilton Eye Institute, Department of Ophthalmology, University of Tennessee Health Science Center, 930 Madison Avenue, Suite 731, Memphis, TN 38163, USA
    Adv Exp Med Biol 613:221-7. 2008
  62. ncbi Identification of novel non-pathogenic mutation in SH3 domain of Btk in an XLA patient
    Rebeca Pérez de Diego
    Mol Immunol 45:301-3. 2008
    ..A first report of an XLA patient with a polymorphism in Btk SH3 domain has been identified after sequencing of the entire gene. SH3 domain variants might not be detected due to well characterized mutations outside the domain...
  63. ncbi Two novel connexin32 mutations cause early onset X-linked Charcot-Marie-Tooth disease
    Geir J Braathen
    Faculty Division Akershus University Hospital, University of Oslo, 1474 Nordbyhagen, Oslo, Norway
    BMC Neurol 7:19. 2007
    ..X-linked Charcot-Marie Tooth (CMT) is caused by mutations in the connexin32 gene that encodes a polypeptide which is arranged in hexameric array and form gap junctions...
  64. ncbi Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation
    Mario Cazzola
    Department of Hematology, University of Pavia Medical School, Pavia, Italy
    Blood 100:4236-8. 2002
    ..This observation is relevant to genetic counseling, emphasizing the importance of gene-based diagnosis...
  65. ncbi A novel locus for X-linked retinitis pigmentosa
    Zongzhong Tong
    Department of Ophthalmology and Visual Sciences, John A. Moran Eye Center, University of Utah Health Sciences Center, Salt Lake City, Utah 84132, USA
    Ann Acad Med Singapore 35:476-8. 2006
    ..Linkage analysis and direct sequencing showed that no known loci/genes were associated with the phenotype in this kindred. CONCLUSION: A novel disease gene locus/loci is responsible for the xlRP phenotype in this family...
  66. ncbi A novel 9-bp insertion in the GJB1 gene causing a mild form of X-linked CMT with late onset
    G Vazza
    Department of Biology, University of Padova, Padova, Italy
    Neuromuscul Disord 16:878-81. 2006
    ..This is the third in-frame insertion in the GJB1 gene identified so far and, like the previous ones, it consists in the duplication of the flanking sequence which is repeated in tandem in the wild-type gene...
  67. ncbi Phenotype in two families with RP3 associated with RPGR mutations
    Birgit Lorenz
    Department of Pediatric Ophthalmology, Strabismology, and Ophthalmic Genetics, Klinikum, University of Regensburg, Franz Josef Strauss Allee 11, D 93053 Regensburg, Germany
    Ophthalmic Genet 24:89-101. 2003
    ..The genotypes (a 75-kb deletion on the X chromosome spanning the RPGR gene and the first exon of the SRPX gene, and a stop mutation (G52X) in the RPGR gene) have been reported previously...
  68. ncbi Extreme phenotypic variability in a German family with X-linked myotubular myopathy associated with E404K mutation in MTM1
    Sabine Hoffjan
    Department of Human Genetics, Ruhr University Bochum, Germany
    Neuromuscul Disord 16:749-53. 2006
    ..Thus, this family represents a remarkable phenotypic variation of XLMTM ranging from a congenital to a mild adult form...
  69. ncbi Co-morbidity of Emery-Dreifuss muscular dystrophy and a congenital myasthenic syndrome possibly affecting the phenotype in a large Bedouin kindred
    G Ifergane
    Department of Neurology, Soroka Medical Center, Beer Sheva, Israel
    Eur J Neurol 14:305-8. 2007
    ..The superimposed pre-synaptic disorder may have contributed to the development of the neurogenic features demonstrated in these patients...
  70. ncbi A novel mutation in the G4.5 (TAZ) gene in a kindred with Barth syndrome
    Samo Vesel
    Cardiology Unit, University Children's Hospital, Ljubljana, Slovenia
    Eur J Hum Genet 11:97-101. 2003
    ..Predicting the phenotype on the basis of mutations is unreliable especially if mutations are localised in alternatively spliced exons of the G4.5 (TAZ) gene which may result in a milder clinical presentation than expected...
  71. ncbi Barth syndrome associated with compound hemizygosity and heterozygosity of the TAZ and LDB3 genes
    Nicola Marziliano
    Centre for Inherited Cardiovascular Diseases, Foundation IRCCS Policlinico San Matteo, Pavia, Italy
    Am J Med Genet A 143:907-15. 2007
    ..We believe that the clinical, genetic and expression data support the hypothesis that tafazzins are essential during fetal and early post-natal life...
  72. ncbi Renal manifestations of Dent disease and Lowe syndrome
    Hee Yeon Cho
    Department of Pediatrics, Gachon University of Medicine and Science, Gil Medical Center, Incheon, South Korea
    Pediatr Nephrol 23:243-9. 2008
    ..In patients with Dent disease, the presence of the above-mentioned extrarenal manifestations indicates that it is more likely that the patient is affected by Dent disease 2 than by Dent disease 1...
  73. ncbi X-linked agammaglobulinemia in northern Thailand
    Muthita Trakultivakorn
    Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand
    Asian Pac J Allergy Immunol 24:57-63. 2006
    ..One patient died of sepsis at the age of 16 years. These observations demonstrate that early diagnosis and treatment can improve prognosis and quality of life...
  74. ncbi Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome
    Isabella Wimplinger
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Butenfeld 42, Hamburg, Germany
    Am J Hum Genet 79:878-89. 2006
    ..In summary, we suggest that disturbance of both OXPHOS and the balance between apoptosis and necrosis, as well as the X-inactivation pattern, may contribute to the variable phenotype observed in patients with MLS...
  75. ncbi Genotype/phenotype correlations of males affected by Simpson-Golabi-Behmel syndrome with GPC3 gene mutations: patient report and review of the literature
    Sabrina Mariani
    Neonatal Intensive Care Unit, A.S.M.N. Reggio Emilia, Modena, Italy
    J Pediatr Endocrinol Metab 16:225-32. 2003
    ..We reviewed the clinical findings of all published patients with SGBS1 with GPC3 mutations to confirm the clinical specificity for the SGBS1 phenotype. Moreover, we report on a new patient with a GPC3 deletion and IGF-II evaluation...
  76. ncbi Filamin a, periventricular nodular heterotopia, and West syndrome
    S P Robertson
    Epilepsia 47:1082; author reply 1082-3. 2006
  77. ncbi Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families
    Lori S Sullivan
    Human Genetics Center, School of Public Health, Department of Ophthalmology and Visual Science, The University of Texas Health Science Center, Houston 77030, USA
    Invest Ophthalmol Vis Sci 47:3052-64. 2006
    ..To survey families with clinical evidence of autosomal dominant retinitis pigmentosa (adRP) for mutations in genes known to cause adRP...
  78. ncbi Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genes
    Sten Andreasson
    Department of Ophthalmology, University Hospital of Lund, Lund, Sweden
    Ophthalmic Genet 24:215-23. 2003
    ....
  79. ncbi X-linked spondyloepiphyseal dysplasia tarda: molecular cause of a heritable platyspondyly
    Jörg Fiedler
    University of Ulm, Department of Orthopedics, Ulm, Germany
    Spine (Phila Pa 1976) 28:E478-82. 2003
    ..Report of a family affected with X-linked spondyloepiphyseal dysplasia tarda with special respect to radiologic alterations of the spine from puberty to the forth decade and to molecular analysis of the underlying genetic defect...
  80. ncbi [Genetic causes of mental retardation]
    Helga Rehder
    Abteilung für Humangenetik, Klinisches Institut für Medizinische und Chemische Labordiagnostik, Medizinische Universität Wien, Wien, Osterreich
    Wien Med Wochenschr 155:258-67. 2005
    ..XLMR explains the 20 % excess of males over females. Despite the increasing knowledge about the causes of MR, about half of the cases remain undiagnosed. Guidelines for the diagnostic procedure in children with MR have been proposed...
  81. ncbi X-linked cone dysfunction syndrome with myopia and protanopia
    Michel Michaelides
    Institute of Ophthalmology, University College London, London, United Kingdom
    Ophthalmology 112:1448-54. 2005
    ..It is therefore possible that the cone dysfunction may have a genetic origin different from that of the dichromacy...
  82. ncbi A family with early-onset and rapidly progressive X-linked spinal and bulbar muscular atrophy
    A Echaniz-Laguna
    Departement de Neurologie, Hopital Civil de Strasbourg, 1 Place de l Hopital, BP426, 67091 Strasbourg, France
    Neurology 64:1458-60. 2005
    ....
  83. ncbi Clinical manifestations of a unique X-linked retinal disorder in a large New Zealand family with a novel mutation in CACNA1F, the gene responsible for CSNB2
    Carolyn I Hope
    Department of Ophthalmology, University of Auckland, Auckland, New Zealand
    Clin Experiment Ophthalmol 33:129-36. 2005
    ..To describe the phenotype in a New Zealand family with an unusual severe X-linked retinal disorder with a novel I745T mutation in CACNA1F, the gene responsible for incomplete congenital stationary night blindness (CSNB2)...
  84. ncbi X-linked hyper IgM (HIGM1) in an African kindred: the first report from South Africa
    Sandra Pienaar
    Department of Paediatrics and Child Health and the School of Adolescent Health, Red Cross Children s Hospital, University of Cape Town, Cape Town, South Africa
    BMC Pediatr 3:12. 2003
    ..The objective of this study was to describe the clinical and molecular features of the first South African family with X-linked hyper-IgM syndrome (HIGM1)...
  85. ncbi The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations
    G Turner
    Hunter Genetics and University of Newcastle, New South Wales, Australia
    Clin Genet 65:226-32. 2004
    ..Twenty percent have significant learning problems, and 95% have skewed X inactivation. We conclude that this syndrome may be underdiagnosed in males in their early years and missed altogether in isolated heterozygous females...
  86. ncbi Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation
    Lars Riff Jensen
    Max Planck Institute for Molecular Genetics, Berlin, Germany
    Am J Hum Genet 76:227-36. 2005
    ..Our results suggest that JARID1C mutations are a relatively common cause of XLMR and that this gene might play an important role in human brain function...
  87. ncbi Identification of the bruton tyrosine kinase (BTK) gene mutations in 20 Australian families with X-linked agammaglobulinemia (XLA)
    Marija Velickovic
    Department of Immunopathology, ICPMR, Westmead Hospital, Sydney, Australia
    Hum Mutat 23:398-9. 2004
    ..The results of this study further support the notion that molecular genetic testing represents an important tool for definitive and early diagnosis of XLA and may allow accurate carrier status and prenatal diagnosis...
  88. ncbi Germline and mosaic mutations of FLN1 in men with periventricular heterotopia
    R Guerrini
    Division of Child Neurology and Psychiatry, University of Pisa and IRCCS Fondazione Stella Maris, Via dei Giacinti 2, 56018 Calambrone Pisa, Italy
    Neurology 63:51-6. 2004
    ..To describe the phenotypic spectrum and genetics of periventricular nodular heterotopia (PNH) caused by FLN1 mutations in four men...
  89. ncbi X-linked high myopia associated with cone dysfunction
    Terri L Young
    Department of Ophthalmology, University of Minnesota Medical School, Minneapolis, USA
    Arch Ophthalmol 122:897-908. 2004
    ..We studied a second family from Minnesota with a similar X-linked phenotype, also of Danish descent. All affected males had protanopia instead of deuteranopia...
  90. ncbi Fundus autofluorescence in carriers of X-linked recessive retinitis pigmentosa associated with mutations in RPGR, and correlation with electrophysiological and psychophysical data
    Erika Wegscheider
    Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics, Klinikum, University of Regensburg, Franz Josef Strauss Allee 11, 93042, Regensburg, Germany
    Graefes Arch Clin Exp Ophthalmol 242:501-11. 2004
    ....
  91. ncbi A genotype-phenotype correlation study in a group of 54 patients with X-linked agammaglobulinemia
    Eduardo Lopez-Granados
    Department of Clinical Immunology, Radcliffe Hospital, Oxford, UK
    J Allergy Clin Immunol 116:690-7. 2005
    ..Many aspects of XLA and BTK function remain unresolved; atypical presentations have been reported, and no clear genotype-phenotype correlation has been established...
  92. ncbi Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR
    Rosa Riveiro-Alvarez
    Department of Genetics, Fundacion Jimenez Diaz, Madrid, Spain
    Mol Vis 11:705-12. 2005
    ..In fact, the same mutation may be responsible for different phenotypes. We speculate that there might be other molecular factors that interact in the retina with Norrin, which contribute to the resultant phenotypes...
  93. ncbi Four additional CLCN5 exons encode a widely expressed novel long CLC-5 isoform but fail to explain Dent's phenotype in patients without mutations in the short variant
    Michael Ludwig
    Department of Clinical Biochemistry, University of Bonn, Bonn, Germany
    Kidney Blood Press Res 26:176-84. 2003
    ..However, sequencing of CLCN5 exonic regions in some patients presenting with low-molecular-weight proteinuria and hypercalciuria - the hallmarks of Dent's disease - failed to identify causative mutations...
  94. ncbi De novo mutation in the BTK gene of atypical X-linked agammaglobulinemia in a patient with recurrent pyoderma
    Mao-Tsair Lin
    Section of Pediatric Allergy and Immunology, Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan
    Ann Allergy Asthma Immunol 96:744-8. 2006
    ....
  95. ncbi Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations
    E Parrini
    Research Institute, I.R.C.C.S, Stella Maris Foundation, University of Pisa, Italy
    Brain 129:1892-906. 2006
    ..Statistical analysis considering all 42 mutations described so far identifies a hotspot region for PNH in the actin-binding domain (P < 0.05)...
  96. ncbi A new congenital form of X-linked autophagic vacuolar myopathy
    C Yan
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187-8502, Japan
    Neurology 65:1132-4. 2005
    ..Haplotype analysis suggests that this new AVM and XMEA may be allelic despite different clinical presentations...
  97. ncbi CSNB1 in Chinese families associated with novel mutations in NYX
    Xueshan Xiao
    Key Laboratory of Ophthalmology of the Ministry of Education and Zhongshan Ophthalmic Center, Sun Yat Sen University, 54 Xianlie Road, Guangzhou, 510060, PR China
    J Hum Genet 51:634-40. 2006
    ..281G>C mutation cosegregated with nyctalopia and myopia. Our results expand the mutation spectrum of NYX and enrich the clinical information related to NYX mutation. The importance of associated myopia with NYX mutations is discussed...
  98. ncbi Mechanistic associations of a mild phenotype of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome
    Fabrizio De Benedetti
    Direzione Scientifica, IRCCS Ospedale Pediatrico Bambino Gesù, Roma, Italy
    Clin Gastroenterol Hepatol 4:653-9. 2006
    ..We describe 2 unrelated patients with IPEX syndrome with a mild clinical phenotype and with novel FOXP3 mutations and the phenotypic and functional characterization of their Treg cells...
  99. ncbi Phenotypical characteristics of idiopathic infantile nystagmus with and without mutations in FRMD7
    Shery Thomas
    Ophthalmology Group, University of Leicester, Leicester, UK
    Brain 131:1259-67. 2008
    ..Fewer patients in the FRMD7 group had AHPs, their amplitude of nystagmus being lower in primary position. Our findings are helpful in the clinical identification of IIN and genetic counselling of nystagmus patients...
  100. ncbi Etiological heterogeneity of familial periventricular heterotopia and hydrocephalus
    Volney L Sheen
    Division of Neurogenetics and Howard Hughes Medical Institute, Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, HIM 816, 4 Blackfan Circle, Boston, MA 02115, USA
    Brain Dev 26:326-34. 2004
    ..Affected individuals have severe developmental delay and may have radiographic findings of hydrocephalus...
  101. ncbi A family with McLeod syndrome and calpainopathy with clinically overlapping diseases
    A Starling
    Human Genome Research Center, , , Brazil
    Neurology 65:1832-3. 2005
    ..This illustrates the variable phenotype of XK mutations and suggests the possibility that CAPN3 heterozygotes may have their condition caused by nonallelic mutations in other unrelated genes...

Research Grants110 found, 100 shown here

  1. GENETIC STUDIES OF HUMAN CELLS
    BARBARA MIGEON; Fiscal Year: 2001
    ....
  2. DEVELOPMENTAL AND GENETIC DEFECTS OF IMMUNITY
    Hans Ochs; Fiscal Year: 2007
    ..Results from these investigations will clarify the function of WASP, explain the phenotypes of WAS/XLT and will undoubtedly have implications for optimal therapy of affected patients. ..
  3. THE GENOTYPE AND PHENOTYPE AMELOGENESIS IMPERFECTA
    John Wright; Fiscal Year: 2004
    ..Knowledge of the molecular determinants of morphogenesis and tissue formation will allow novel and more effective treatments and more accurate diagnosis of the diverse hereditary conditions affecting teeth. ..
  4. MODIFYING GENE DETERMINANTS OF TOOTH AND BONE PHENOTYPES
    John Wright; Fiscal Year: 2007
    ..abstract_text> ..
  5. Phenotype and Gene Expression in Odontogenic Tumors
    John Wright; Fiscal Year: 2007
    ..Gene data will be placed on our web site in a timely fashion for data sharing. These studies will provide the first detailed mutational and gene profile studies of human odontogenic tumors. ..
  6. A Canine Model for Human X-Linked Ectodermal Dysplasia
    Margret Casal; Fiscal Year: 2007
    ..Furthermore, the HED dogs will be examined to demonstrate that a specific immune deficiency is responsible for pulmonary disease rather than the previously thought lack of respiratory mucoid glands. ..
  7. GENETIC STUDIES OF HUMAN SOMATIC CELLS
    BARBARA MIGEON; Fiscal Year: 1993
    ....
  8. GENETIC STUDIES OF HUMAN SOMATIC CELLS
    BARBARA MIGEON; Fiscal Year: 1980
    ..We will continue to develop the D-valine selective system for epithelial cells which have D-amino acid oxidase, an enzyme present only in differentiated cells. ..
  9. Phenotype and Gene Expression in Odontogenic Tumors
    JOHN T WRIGHT; Fiscal Year: 2010
    ..Gene data will be placed on our web site in a timely fashion for data sharing. These studies will provide the first detailed mutational and gene profile studies of human odontogenic tumors. ..
  10. GENETIC STUDIES OF HUMAN SOMATIC CELLS
    BARBARA MIGEON; Fiscal Year: 1990
    ..7) We will continue studies of females for X linked mutations to characterize in vivo selection in mosaic cell populations...
  11. Structure-function analysis of RanBP2 in the neuroretina
    Paulo Ferreira; Fiscal Year: 2006
    ..Finally, we will investigate the physiological effects of these components and processes in the pathogenesis of retinal dystrophies. ..
  12. De novo copy number variation and gene discovery in human brain malformations
    William B Dobyns; Fiscal Year: 2010
    ....
  13. Virus Specific CTL following T cell depleted SCT
    Kenneth Lucas; Fiscal Year: 2006
    ....
  14. Identifying the RP10 gene causing retinitis pigmentosa
    Stephen Daiger; Fiscal Year: 2004
    ..abstract_text> ..
  15. DNA LINKAGE STUDIES OF DEGENERATIVE RETINAL DISEASES
    Stephen Daiger; Fiscal Year: 1991
    ..Linked markers for ADRP and Usher's syndrome will be of value in early diagnosis, in detection of genetic heterogeneity and eventually, in isolation and characterization of the mutant genes...
  16. DNA LINKAGE STUDIES OF DEGENERATIVE RETINAL DISEASES
    Stephen Daiger; Fiscal Year: 2009
    ..As new genes are identified, or as new approaches to testing become available, this panel is screened to replicate findings, determine prevalences, and evaluate new concepts. ..
  17. A Mouse Model of Gaucher Disease
    Ernest Beutler; Fiscal Year: 2005
    ..In particular, electron microscopy and light microscopy will be used to attempt to demonstrate the development of Gaucher cells in the chimeric mice. ..
  18. FOXP3 Structure, Function and Regulatory Activity in T cells
    Troy Torgerson; Fiscal Year: 2007
    ....
  19. Hemochromatosis -- Epidemiology and Molecular Mechanisms
    Ernest Beutler; Fiscal Year: 2006
    ..The projected studies should improve our understanding of control of iron metabolism and make possible detection of those cases of hemochromatosis who are likely to become clinically affected. ..
  20. Genetic determinants of cataract
    Alan Shiels; Fiscal Year: 2006
    ..Better evaluation of environmental risk factors for cataract, thereby enabling genetically susceptible individuals to choose a lifestyle that delays or even prevents cataract onset. ..
  21. INVESTIGATIVE HEMATOLOGY
    Ernest Beutler; Fiscal Year: 2007
    ..The training faculty for this program work in approximately 30,000 square feet of laboratory space used exclusively for biomedical research ..
  22. Hemochromatosis -- Epidemiology and Molecular Mechanisms
    Ernest Beutler; Fiscal Year: 2003
    ..The projected studies should improve our understanding of control of iron metabolism and make possible detection of those cases of hemochromatosis who are likely to become clinically affected. ..
  23. HUMAN LENS CONNEXIN GENES IN HEREDITARY CATARACT
    Alan Shiels; Fiscal Year: 2000
    ..Ultimately, such data will contribute to the design of new preventative and therapeutic strategies for the clinical management of cataract. ..
  24. DNA LINKAGE STUDIES OF DEGENERATIVE RETINAL DISEASES
    Stephen Daiger; Fiscal Year: 2000
    ..A more complete understanding of the molecular causes of RP may foster the development of novel therapies for this disease. ..
  25. Molecular Genetics of X-linked Cataracts
    Kristen Huang; Fiscal Year: 2006
    ..Identifying the XLCD gene would contribute to our understanding of the molecular events involved in lens development. ..
  26. CLINICAL CHARACTERIZATION&GENETICS OF OPTIC NERVE DRUSEN
    Bradley Katz; Fiscal Year: 2005
    ..These data may suggest novel therapies to prevent the visual field loss associated with OND. In addition, these data may yield information about other diseases of the optic nerve. ..
  27. DNA LINKAGE STUDIES OF DEGENERATIVE RETINAL DISEASES
    Stephen Daiger; Fiscal Year: 2004
    ..A fuller understanding of the causes of dominant retinopathies will foster development of prevention and treatment. ..