Genomes and Genes
x linked genetic diseases
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.
Publications180 found, 100 shown here
- Cardiac and clinical phenotype in Barth syndromeCarolyn 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...
- Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 geneY 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...
- Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak populationRobert Dobrovolny
Institute of Inherited Metabolic Diseases, First Faculty of Medicine, Charles University, Ke Karlovu 2, Prague 2, 128 08 Czech Republic
J Mol Med (Berl) 83:647-54. 2005....
- Signaling by Toll-like receptors 8 and 9 requires Bruton's tyrosine kinaseSarah L Doyle
School of Biochemistry and Immunology, Department of Immunology, Trinity College Dublin, Dublin 2, Ireland
J Biol Chem 282:36953-60. 2007..Lack of functioning Btk in XLA patients downstream of TLR8 and TLR9 might explain the susceptibility of XLA patients to viral infections...
- A frameshift mutation in RPGR exon ORF15 causes photoreceptor degeneration and inner retina remodeling in a model of X-linked retinitis pigmentosaWilliam 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..To characterize the course of retinal disease in X-linked progressive retinal atrophy 2 (XLPRA2), a canine model of early onset X-linked retinitis pigmentosa (XLRP) caused by a two-nucleotide microdeletion in RPGR ORF15...
- Inheritance of most X-linked traits is not dominant or recessive, just X-linkedWilliam 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...
- MID1 and MID2 homo- and heterodimerise to tether the rapamycin-sensitive PP2A regulatory subunit, alpha 4, to microtubules: implications for the clinical variability of X-linked Opitz GBBB syndrome and other developmental disordersKieran M Short
Department of Molecular Biosciences and ARC Special Research Centre for the Molecular Genetics of Development, University of Adelaide, Adelaide, South Australia, Australia 5005
BMC Cell Biol 3:1. 2002..A protein highly related to MID1, called MID2, has also been described that similarly associates with microtubules...
- X-linked G6PD deficiency protects hemizygous males but not heterozygous females against severe malariaAldiouma 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...
- Identification of a novel GPR143 deletion in a Chinese family with X-linked congenital nystagmusPingtong 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...
- IPEX and the role of Foxp3 in the development and function of human TregsSeverine 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....
- Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutationsJoyce 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...
- RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosaDror 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...
- Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counselingValerie 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....
- Unregulated actin polymerization by WASp causes defects of mitosis and cytokinesis in X-linked neutropeniaDale 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...
- Allelic variation of the FRMD7 gene in congenital idiopathic nystagmusJames 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...
- Clinical findings leading to the diagnosis of X-linked agammaglobulinemiaMary 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....
- Ten novel ORF15 mutations confirm mutational hot spot in the RPGR gene in European patients with X-linked retinitis pigmentosaCarsten 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...
- Insights into X-linked retinitis pigmentosa type 3, allied diseases and underlying pathomechanismsPaulo A Ferreira
Departments of Ophthalmology, Duke University Medical Center, Erwin Road, Durham, NC 27710, USA
Hum Mol Genet 14:R259-67. 2005....
- RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infectionsI Zito
J Med Genet 40:609-15. 2003
- Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. OnlineDaniel 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...
- Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmusBaorong 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...
- [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...
- X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15Ingrid 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...
- X-linked myotubular myopathy in a female infant caused by a new MTM1 gene mutationUlrike 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...
- Molecular mechanisms and neuroimaging criteria for severe L1 syndrome with X-linked hydrocephalusYonehiro Kanemura
Institute for Clinical Research and Department of Neurosurgery, Osaka National Hospital, Osaka, Japan
J Neurosurg 105:403-12. 2006....
- FRMD7 mutations in Chinese families with X-linked congenital motor nystagmusQingjiong 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...
- Gene expression analyses in X-linked myotubular myopathyS 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...
- Amelogenesis imperfecta: a classification and catalogue for the 21st centuryM 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...
- Nance-Horan syndrome protein, NHS, associates with epithelial cell junctionsShiwani 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...
- X-linked agammaglobulinemia: report on a United States registry of 201 patientsJerry 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....
- 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...
- Identification of two novel mutations in families with X-linked ocular albinismAlessandro 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...
- Prenatal diagnosis in a family with X-linked hydrocephalusMaria 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. =..
- Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicingChristian A Hübner
Institute of Human Genetics, University Hospital Eppendorf, Hamburg, Germany
Hum Mutat 23:526. 2004..In contrast, c.3323-17dupG and c.3457+18C>T seem to be non-pathogenic L1CAM variants...
- The molecular etiologies and associated phenotypes of amelogenesis imperfectaJ 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...
- Mapping a new genetic locus for X linked retinitis pigmentosa to Xq28A 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...
- Dominant, gain-of-function mutant produced by truncation of RPGRDong 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...
- Clinical and molecular findings in IPEX syndromeA 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...
- Transcriptional adaptation to Clcn5 knockout in proximal tubules of mouse kidneyJerry 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...
- Embryonic expression of the human MID1 gene and its mutations in Opitz syndromeL Pinson
J Med Genet 41:381-6. 2004
- Relationship of phenotype and genotype in X-linked amelogenesis imperfectaJ 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...
- A potential screening tool for IPEX syndromeMeredith 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...
- Genotype-phenotype correlations in X-linked myotubular myopathyMeriel 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...
- Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) familiesNeil D Ebenezer
Division of Molecular Genetics, University College London, UK
Invest Ophthalmol Vis Sci 46:1891-8. 2005....
- Mutational screening of the RP2 and RPGR genes in Spanish families with X-linked retinitis pigmentosaMaria 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...
- RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosaA 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...
- A novel locus for X-linked congenital cataract on Xq24Jamie 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...
- Defective regulatory and effector T cell functions in patients with FOXP3 mutationsRosa Bacchetta
San Raffaele Telethon Institute for Gene Therapy HSR TIGET, Milan, Italy
J Clin Invest 116:1713-22. 2006....
- X-linked agammaglobulinemia: a survey of 33 Iranian patientsMostafa 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...
- Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian familiesRobert 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...
- X-chromosome inactivation and human genetic diseaseM F Lyon
MRC Mammalian Genetics Unit, Harwell, Didcot, Oxfordshire, UK
Acta Paediatr Suppl 91:107-12. 2002..In rare cases, changes in the Xist gene can cause skewing of X-inactivation. A few genes escape from X-inactivation either wholly or partially...
- A population-based epidemiological and genetic study of X-linked retinitis pigmentosaHolger 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...
- Identification of three novel NHS mutations in families with Nance-Horan syndromeKristen 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...
- Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathyChristopher 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...
- Identification of Bruton tyrosine kinase mutations in 12 Chinese patients with X-linked agammaglobulinaemia by long PCR-direct sequencingK 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...
- Truncating mutation in the NHS gene: phenotypic heterogeneity of Nance-Horan syndrome in an asian Indian familyVedam 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...
- A non-ancestral RPGR missense mutation in families with either recessive or semi-dominant X-linked retinitis pigmentosaEyal 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...
- X-linked myotubular myopathy in a family with three adult survivorsS 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...
- Retinal phenotype of an X-linked pseudo-Usher syndrome in association with the G173R mutation in the RPGR geneAlessandro Iannaccone
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
- Renal manifestations of Dent disease and Lowe syndromeHee 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...
- Filamin a, periventricular nodular heterotopia, and West syndromeS P Robertson
Epilepsia 47:1082; author reply 1082-3. 2006
- A novel locus for X-linked retinitis pigmentosaZongzhong 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..We studied a large family with RP to determine the pattern of inheritance and to identify the disease-causing gene/locus...
- X-linked agammaglobulinemia in northern ThailandMuthita 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...
- Extreme phenotypic variability in a German family with X-linked myotubular myopathy associated with E404K mutation in MTM1Sabine 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...
- CSNB1 in Chinese families associated with novel mutations in NYXXueshan 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...
- Two novel connexin32 mutations cause early onset X-linked Charcot-Marie-Tooth diseaseGeir 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...
- Identification of novel non-pathogenic mutation in SH3 domain of Btk in an XLA patientRebeca 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...
- X-linked hyper IgM (HIGM1) in an African kindred: the first report from South AfricaSandra 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)...
- Retinal histopathology of an XLRP carrier with a mutation in the RPGR exon ORF15Gustavo 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....
- Barth syndrome associated with compound hemizygosity and heterozygosity of the TAZ and LDB3 genesNicola 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...
- X-linked high myopia associated with cone dysfunctionTerri 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...
- Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutationMario 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...
- Genotype/phenotype correlations of males affected by Simpson-Golabi-Behmel syndrome with GPC3 gene mutations: patient report and review of the literatureSabrina 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...
- A novel mutation in the G4.5 (TAZ) gene in a kindred with Barth syndromeSamo 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...
- Co-morbidity of Emery-Dreifuss muscular dystrophy and a congenital myasthenic syndrome possibly affecting the phenotype in a large Bedouin kindredG 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...
- A novel 9-bp insertion in the GJB1 gene causing a mild form of X-linked CMT with late onsetG 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...
- Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndromeIsabella 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...
- Identification of a novel RPGR exon ORF15 mutation in a family with X-linked retinitis pigmentosaZi 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)...
- Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 familiesLori 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...
- [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...
- X-linked cone dysfunction syndrome with myopia and protanopiaMichel Michaelides
Institute of Ophthalmology, University College London, London, United Kingdom
Ophthalmology 112:1448-54. 2005..To perform a detailed clinical, psychophysical, and molecular assessment of members of 4 families with an unusual X-linked cone dysfunction syndrome associated with myopia...
- A family with early-onset and rapidly progressive X-linked spinal and bulbar muscular atrophyA Echaniz-Laguna
Departement de Neurologie, Hopital Civil de Strasbourg, 1 Place de l Hopital, BP426, 67091 Strasbourg, France
Neurology 64:1458-60. 2005....
- 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 CSNB2Carolyn 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)...
- X-linked spondyloepiphyseal dysplasia tarda: molecular cause of a heritable platyspondylyJörg 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...
- Consanguineous marriage resulting in homozygous occurrence of X-linked retinoschisis in girlsAzam Ali
Department of Ophthalmology, The Aga Khan University, Karachi, Pakistan
Am J Ophthalmol 136:767-9. 2003..To investigate a family afflicted with X-linked retinoschisis and to determine the pedigree leading to such an occurrence...
- Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardationLars 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...
- Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genesSten Andreasson
Department of Ophthalmology, University Hospital of Lund, Lund, Sweden
Ophthalmic Genet 24:215-23. 2003....
- Germline and mosaic mutations of FLN1 in men with periventricular heterotopiaR 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...
- Fundus autofluorescence in carriers of X-linked recessive retinitis pigmentosa associated with mutations in RPGR, and correlation with electrophysiological and psychophysical dataErika 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....
- Etiological heterogeneity of familial periventricular heterotopia and hydrocephalusVolney 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...
- 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...
- The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutationsG 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...
- A genotype-phenotype correlation study in a group of 54 patients with X-linked agammaglobulinemiaEduardo 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...
- A new congenital form of X-linked autophagic vacuolar myopathyC 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...
- 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 variantMichael 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...
- Phenotype in two families with RP3 associated with RPGR mutationsBirgit 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...
- De novo mutation in the BTK gene of atypical X-linked agammaglobulinemia in a patient with recurrent pyodermaMao Tsair Lin
Section of Pediatric Allergy and Immunology, Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan
Ann Allergy Asthma Immunol 96:744-8. 2006..Most patients have recurrent sinopulmonary infection. Infections usually occur in multiple locations across time, but single infection may be limited to one anatomic location...
- A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large familyXiang 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...
- Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutationsE 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)...
- Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVRRosa Riveiro-Alvarez
Department of Genetics, Fundacion Jimenez Diaz, Madrid, Spain
Mol Vis 11:705-12. 2005..In this study, we report the molecular findings and the related phenotype in five Spanish families affected with Norrie disease or XL-FEVR due to mutations of the NDP gene...
- Discordant phenotypes in fraternal twins having an identical mutation in exon ORF15 of the RPGR geneSaloni Walia
Department of Ophthamology and Visual Sciences, University of Illinois, Chicago 60612 7234, USA
Arch Ophthalmol 126:379-84. 2008....
- GENETIC STUDIES OF HUMAN CELLSBARBARA MIGEON; Fiscal Year: 2001....
- A Canine Model for Human X-Linked Ectodermal DysplasiaMargret 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. ..
- THE GENOTYPE AND PHENOTYPE AMELOGENESIS IMPERFECTAJohn 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. ..
- MODIFYING GENE DETERMINANTS OF TOOTH AND BONE PHENOTYPESJohn Wright; Fiscal Year: 2007..abstract_text> ..
- Phenotype and Gene Expression in Odontogenic TumorsJOHN 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. ..
- Clinical Trial Planning Grant: Lentiviral Vector for HIV-1Donald Kohn; Fiscal Year: 2006..unreadable] [unreadable] [unreadable]..
- Bromelain Proteinase Activity in IBDLAURA HALE; Fiscal Year: 2006..They will thus strengthen the scientific knowledge base needed to inform the practice of complementary and alternative medicine. ..
- Melanopsin-based form vision in photoreceptor diseaseMICHAEL SANDBERG; Fiscal Year: 2007..unreadable] [unreadable]..
- Genetic analysis of congenital diaphragmatic herniaAnne Slavotinek; Fiscal Year: 2006..abstract_text> ..
- Molecular Determinants of Virulence Porcine Circovirus 2Steven Krakowka; Fiscal Year: 2007..Collectively, these data will provide critical insight into pathogenic mechanisms of disease mediated by mammalian circoviruses and will provide key guidance for the future study of human circovirus pathogens. ..
- Models of X-Linked Retinitis PigmentosaGUSTAVO AGUIRRE; Fiscal Year: 2007....
- Mast Cells and IBD PathogenesisLAURA HALE; Fiscal Year: 2007..unreadable] [unreadable] [unreadable]..
- CANNABINOIDS AND NEUROPROTECTION IN CEREBRAL ISCHEMIADavid Greenberg; Fiscal Year: 2008....
- Conference--American Society of Gene TherapyDonald Kohn; Fiscal Year: 2008..The annual ASGT meeting is the premier meeting in the field of gene therapy and serves as a rich source of information for the future generation of gene therapists. ..
- Molecular Genetics of X-linked CataractsKristen Huang; Fiscal Year: 2007..Identifying the XLCD gene would contribute to the our understanding of the molecular events involved in lens development. ..
- Virus Specific CTL following T cell depleted SCTKenneth Lucas; Fiscal Year: 2009....
- Chemoprevention of IBD-Associated Colon CancerLaura P Hale; Fiscal Year: 2010..The proposed studies will further elucidate mechanisms that can lead to novel interventions to prevent IBD-associated colon cancers, providing great benefit to IBD patients and their families. ..
- Novel Oral Adjuvant for Dental VaccinesLAURA HALE; Fiscal Year: 2005..abstract_text> ..
- Bromelain as a Biologically-Based Therapy for IBDLAURA HALE; Fiscal Year: 2005..This research will thus strengthen the biomedical research knowledge base needed to inform the practice of complementary and alternative medicine. ..
- Visual Dysfunction in Retinal DegenerationsKenneth R Alexander; Fiscal Year: 2010....
- FORMATION AND SURVIVAL OF RED BLOOD CELLSErnest Beutler; Fiscal Year: 2001..Should these point mutations fail to alter gene transcription, a search will be made for other potential mutations in linkage disequilibrium with the known -5,-8 and -24 polymorphisms, by sequencing upstream through the promotor. ..
- ANGIOGENESIS FACTORS AND CEREBRAL ISCHEMIADavid Greenberg; Fiscal Year: 2001..4. Evaluate whether angiogenesis induced by prior focal ischemia or by administration of VEGF can decrease the size of cerebral infarcts in the same model. ..
- GENE EXPRESSION IN BETA-CELLS BY LENTIVIRAL VECTORSDonald Kohn; Fiscal Year: 2003..g. beta-cell precursors), or as reporter genes to indicate the transcriptional status of the insulin or PDX-1 genes, e.g. in response to glucose concentrations, hormones, growth factors, genes, or drugs. ..
- Reading Enhancement for Patients with Visual Field LossMICHAEL SANDBERG; Fiscal Year: 2004....
- Moleclar Pathogenesis of Retinitis Pigmentosa Type 3Paulo Ferreira; Fiscal Year: 2004..The goals of this proposal are to understand the molecular pathogenesis of XIRP3, in particular, the molecular basis of the retina specific effects of RPGR mutations leading to RP3 and the biological role of the novel RPGRIPs. ..
- Role of arginine deficiency in pathogenesis of lupusMinoru Satoh; Fiscal Year: 2004..abstract_text> ..
- Full karyotype single cell interphase analysisSantiago Munne; Fiscal Year: 2005..In phase-I we propose to develop two of the three sets of probes, and to test that these probes will work with 90% efficiency after three rounds of hybridization in single polar bodies. ..
- Multidisciplinary Study of Right Ventricular DysplasiaJeffrey Towbin; Fiscal Year: 2005..This integrated research grant proposal offers a substantial prospect of expanding the fund of clinical knowledge regarding ARVD and of localizing the gene(s) responsible for this disorder. ..
- THE ROLE OF PL3K IN THROMBOPOIETIN SIGNALINGAmy Geddis; Fiscal Year: 2005..A defined plan of training is presented in which the applicant will develop the experience and skills necessary for success as an independent investigator in Hematology. ..
- SACRAL CREST CELLS AND ENTERIC NEURODEVELOPMENTRaj Kapur; Fiscal Year: 2005..The results of this study will further our understanding of normal enteric neurodevelopment and congenital disorders of intestinal motility. ..
- Immunoregulation in the Peritoneal CavityJames Riggs; Fiscal Year: 2005..These studies will also provide information regarding how constitutive suppression of Thl activation could facilitate the generation of B cell lymphoma from B-l B cells in the PerC. ..
- Identifying the RP10 gene causing retinitis pigmentosaStephen Daiger; Fiscal Year: 2004..abstract_text> ..
- Structure-function analysis of RanBP2 in the neuroretinaPaulo Ferreira; Fiscal Year: 2006..Finally, we will investigate the physiological effects of these components and processes in the pathogenesis of retinal dystrophies. ..
- A Mouse Model of Gaucher DiseaseErnest 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. ..
- INFRASTRUCTURE FOR RESEARCH ON MENTAL DISABILITIESRoger Stevenson; Fiscal Year: 2003....
- CLINICAL CHARACTERIZATION&GENETICS OF OPTIC NERVE DRUSENBradley 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. ..