recessive genes

Summary

Summary: Genes that influence the PHENOTYPE only in the homozygous state.

Top Publications

  1. ncbi Nephronophthisis-associated ciliopathies
    Friedhelm Hildebrandt
    Department of Pediatrics, University of Michigan Health System, 8220C MSRB III, 1150 West Medical Center Drive, Ann Arbor, MI 48109 0646, USA
    J Am Soc Nephrol 18:1855-71. 2007
  2. ncbi Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism
    Vincenzo Bonifati
    Genetic Epidemiologic Unit, Department of Clinical Genetics, Department of Epidemiology and Biostatistics, Erasmus Medical Center Rotterdam, Post Office Box 1738, 3000 DR Rotterdam, Netherlands
    Science 299:256-9. 2003
  3. ncbi Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness
    H S Scott
    Division of Medical Genetics, University of Geneva Medical School, Geneve, Switzerland
    Nat Genet 27:59-63. 2001
  4. ncbi Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy
    Anne Sophie Nicot
    Institut de Genetique et de Biologie Moleculaire et Cellulaire IGBMC, Department of Molecular Pathology, F 67400 Illkirch, France
    Nat Genet 39:1134-9. 2007
  5. pmc A fine-scale genetic analysis of hybrid incompatibilities in Drosophila
    Daven C Presgraves
    Department of Biology, University of Rochester, Rochester, New York 14627, USA
    Genetics 163:955-72. 2003
  6. pmc Haldane's sieve and adaptation from the standing genetic variation
    H A Orr
    Department of Biology, University of Rochester, Rochester, NY 14627, USA
    Genetics 157:875-84. 2001
  7. pmc A molecular model for the genetic and phenotypic characteristics of the mouse lethal yellow (Ay) mutation
    E J Michaud
    Biology Division, Oak Ridge National Laboratory, TN 37831 8077
    Proc Natl Acad Sci U S A 91:2562-6. 1994
  8. ncbi Human complete Stat-1 deficiency is associated with defective type I and II IFN responses in vitro but immunity to some low virulence viruses in vivo
    Ariane Chapgier
    Laboratoire de Genetique Humaine des Maladies Infectieuses, Université de Paris René Descartes Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche R550, Faculte de Medecine Necker Enfants Malades, Paris, France
    J Immunol 176:5078-83. 2006
  9. ncbi Emerging pathways in genetic Parkinson's disease: autosomal-recessive genes in Parkinson's disease--a common pathway?
    Julia C Fitzgerald
    Department of Molecular Neuroscience, Institute of Neurology, University College London, UK
    FEBS J 275:5758-66. 2008
  10. pmc Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings
    C Geoffrey Woods
    Department of Medical Genetics, Cambridge Institute for Medical Research, Cambridge, United Kingdom
    Am J Hum Genet 76:717-28. 2005

Research Grants

  1. AUDITORY GENETIC STUDIES OF HEREDITARY HEARING LOSS
    Linda Hood; Fiscal Year: 2002
  2. GENETIC ANALYSIS OF AGING IN THE TRUE SLIME MOLDS
    Jimmy Clark; Fiscal Year: 1980
  3. MOUSE MODELS OF OVARIAN CANCER
    Thomas Hamilton; Fiscal Year: 2003
  4. GENETIC ALTERATIONS IN PROGRESSION OF HUMAN MELANOMA
    Yaacov Ben David; Fiscal Year: 1992
  5. CREATION OF A DNA REPOSITORY TO IDENTIFY DEAFNESS GENES
    Walter Nance; Fiscal Year: 2004
  6. Gene Modifiers of Retinal Degeneration
    HENRY DANCIGER; Fiscal Year: 2009
  7. RPE65 IN RETINAL METABOLISM AND DEGENERATION
    Debra Thompson; Fiscal Year: 2005
  8. GENETIC STUDIES OF NONSYNDROMIC DEAFNESS
    Walter Nance; Fiscal Year: 2001
  9. Functional characterization of the gene NPHP4
    Friedhelm Hildebrandt; Fiscal Year: 2007
  10. A Canine Model for Human X-Linked Ectodermal Dysplasia
    Margret Casal; Fiscal Year: 2007

Detail Information

Publications261 found, 100 shown here

  1. ncbi Nephronophthisis-associated ciliopathies
    Friedhelm Hildebrandt
    Department of Pediatrics, University of Michigan Health System, 8220C MSRB III, 1150 West Medical Center Drive, Ann Arbor, MI 48109 0646, USA
    J Am Soc Nephrol 18:1855-71. 2007
    ..Positional cloning of additional causative genes of NPHP will elucidate further signaling mechanisms that are involved, thereby establishing therapeutic approaches using animal models in mouse, zebrafish, and Caenorhabditis elegans...
  2. ncbi Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism
    Vincenzo Bonifati
    Genetic Epidemiologic Unit, Department of Clinical Genetics, Department of Epidemiology and Biostatistics, Erasmus Medical Center Rotterdam, Post Office Box 1738, 3000 DR Rotterdam, Netherlands
    Science 299:256-9. 2003
    ..Elucidating the physiological role of DJ-1 protein may promote understanding of the mechanisms of brain neuronal maintenance and pathogenesis of Parkinson's disease...
  3. ncbi Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness
    H S Scott
    Division of Medical Genetics, University of Geneva Medical School, Geneve, Switzerland
    Nat Genet 27:59-63. 2001
    ..This is the first description of beta-satellite insertion into an active gene resulting in a pathogenic state, and the first description of a protease involved in hearing loss...
  4. ncbi Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy
    Anne Sophie Nicot
    Institut de Genetique et de Biologie Moleculaire et Cellulaire IGBMC, Department of Molecular Pathology, F 67400 Illkirch, France
    Nat Genet 39:1134-9. 2007
    ....
  5. pmc A fine-scale genetic analysis of hybrid incompatibilities in Drosophila
    Daven C Presgraves
    Department of Biology, University of Rochester, Rochester, New York 14627, USA
    Genetics 163:955-72. 2003
    ..Finally, I estimate that a total of approximately 191 hybrid-lethal incompatibilities separate D. melanogaster and D. simulans, indicating extensive functional divergence between these species' genomes...
  6. pmc Haldane's sieve and adaptation from the standing genetic variation
    H A Orr
    Department of Biology, University of Rochester, Rochester, NY 14627, USA
    Genetics 157:875-84. 2001
    ..autosomal loci. Last, we suggest a test to determine whether adaptation used new mutations or previously deleterious alleles from the standing genetic variation...
  7. pmc A molecular model for the genetic and phenotypic characteristics of the mouse lethal yellow (Ay) mutation
    E J Michaud
    Biology Division, Oak Ridge National Laboratory, TN 37831 8077
    Proc Natl Acad Sci U S A 91:2562-6. 1994
    ..We present a model for the structure of the Ay allele that can explain the dominant pleiotropic effects associated with this mutation, as well as the recessive lethality, which is unrelated to the agouti gene...
  8. ncbi Human complete Stat-1 deficiency is associated with defective type I and II IFN responses in vitro but immunity to some low virulence viruses in vivo
    Ariane Chapgier
    Laboratoire de Genetique Humaine des Maladies Infectieuses, Université de Paris René Descartes Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche R550, Faculte de Medecine Necker Enfants Malades, Paris, France
    J Immunol 176:5078-83. 2006
    ..Stat-1 deficiency should be suspected in children with severe infections, notably but not exclusively patients with mycobacterial or viral diseases...
  9. ncbi Emerging pathways in genetic Parkinson's disease: autosomal-recessive genes in Parkinson's disease--a common pathway?
    Julia C Fitzgerald
    Department of Molecular Neuroscience, Institute of Neurology, University College London, UK
    FEBS J 275:5758-66. 2008
    ..Accumulating evidence suggests that wild-type PINK1, Parkin and DJ-1 may be key components of neuroprotective signalling cascades that run in parallel, interact via cross talk or converge in a common pathway...
  10. pmc Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings
    C Geoffrey Woods
    Department of Medical Genetics, Cambridge Institute for Medical Research, Cambridge, United Kingdom
    Am J Hum Genet 76:717-28. 2005
    ..So an understanding of this rare genetic disorder may offer us significant insights into neurogenic mitosis and the evolution of the most striking differences between us and our closest living relatives: brain size and cognitive ability...
  11. ncbi A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size
    Jacquelyn Bond
    Molecular Medicine Unit, University of Leeds, St James s University Hospital, Beckett Street, Leeds LS9 7TF, UK
    Nat Genet 37:353-5. 2005
    ....
  12. pmc Allowing for missing parents in genetic studies of case-parent triads
    C R Weinberg
    National Institute of Environmental Health Sciences, Research Triangle Park, NC 27709, USA
    Am J Hum Genet 64:1186-93. 1999
    ..Information from siblings also can be incorporated to further improve the statistical power when genetic data from parents or probands are missing...
  13. pmc Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis
    H Morimura
    Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA
    Proc Natl Acad Sci U S A 95:3088-93. 1998
    ..Based on our results, mutations in the RPE65 gene appear to account for approximately 2% of cases of recessive RP and approximately 16% of cases of LCA...
  14. ncbi COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome
    Ilaria Longo
    Genetica Medica, Universita di Siena, Siena Dip Scienze Cliniche e Biologiche and Genetica, Biologia e Biochimica, Universita di Torino, Torino, Italy
    Kidney Int 61:1947-56. 2002
    ..COL4A3/COL4A4 mutations: From familial hematuria to autosomal-dominant or recessive Alport syndrome...
  15. ncbi Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase
    S H Huang
    Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Boston, Massachusetts, USA
    Nat Genet 11:468-71. 1995
    ..PDEA is the seventh RP gene identified, highlighting the extensive genetic heterogeneity of the disorder and encouraging further investigation into the role of other members of the phototransduction cascade in RP...
  16. ncbi Expression analysis of the autosomal recessive primary microcephaly genes MCPH1 (microcephalin) and MCPH5 (ASPM, abnormal spindle-like, microcephaly associated) in human malignant gliomas
    Carsten Hagemann
    Department of Neurosurgery, University of Wurzburg, D 97080 Wurzburg, Germany
    Oncol Rep 20:301-8. 2008
    ..Our findings are significant as the expression of ASPM may be used as a marker for glioma malignancy and represents a potential therapeutic target...
  17. pmc Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa
    M E McLaughlin
    Howe Laboratory of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston 02114, USA
    Proc Natl Acad Sci U S A 92:3249-53. 1995
    ..Mutations in the gene encoding the beta subunit of rod phosphodiesterase are the most common identified cause of autosomal recessive retinitis pigmentosa, accounting for approximately 4% of cases in North America...
  18. ncbi Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type
    G S Grieco
    Molecular Neurogenetics, IRCCS C Mondino, Center of Experimental Neurobiology Mondino Tor Vergata S Lucia, Rome, Italy
    Neurology 62:103-6. 2004
    ..The authors identified three new SACS mutations in two Italian patients whose phenotype closely matches that of Quebec cases, but without retinal striation...
  19. ncbi A novel mutation in SACS gene in a family from southern Italy
    C Criscuolo
    Department of Neurological Sciences, Federico II University, Naples, Italy
    Neurology 62:100-2. 2004
    ..The phenotype is similar to previously described patients with ARSACS...
  20. ncbi Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia
    Chiara Criscuolo
    Department of Neurological Sciences, Federico II University, Naples, Italy
    Mov Disord 20:1358-61. 2005
    ..7848C>T is the first SACS mutation reported in Spain confirming worldwide distribution of the disease...
  21. ncbi A phenotype without spasticity in sacsin-related ataxia
    H Shimazaki
    Department of Neurology, Jichi Medical School, Tochigi 329 0498, Japan
    Neurology 64:2129-31. 2005
    ..They had a novel homozygous missense mutation (T987C) of the SACS gene, which resulted in a phenylalanine-to-serine substitution at amino acid residue 304...
  22. ncbi Novel SACS mutation in a Belgian family with sacsin-related ataxia
    Y Ouyang
    Division of Neurology, Department of Internal Medicine, Jichi Medical University, Tochigi 329 0498, Japan
    J Neurol Sci 264:73-6. 2008
    ..g., teenage-onset and absence of retinal hypermyelination. The present family is from Wallonia, and there could be shared ethnicity with the families of Charlevoix-Saguenay...
  23. pmc A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis
    Dina Ahram
    Shafallah Medical Genetics Center, Doha, Qatar
    Am J Hum Genet 84:274-8. 2009
    ..We conclude that mutations in ADAMTSL4 are responsible for autosomal-recessive simple ectopia lentis and that ADAMTS-like4 plays a role in the development and/or integrity of the zonular fibers...
  24. pmc A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34
    L Moynihan
    Molecular Medicine Unit, St James s University Hospital, Leeds, United Kingdom
    Am J Hum Genet 66:724-7. 2000
    ..The minimal critical region is approximately 12 cM, being defined by the markers cen-D9S1872-D9S159-tel, with a maximum two-point LOD score of 3.76 (recombination fraction 0) observed for the marker D9S290...
  25. pmc Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene
    A I den Hollander
    Department of Human Genetics, University Medical Centre Nijmegen, Geert Grooteplein 10, 6500 HB Nijmegen, The Netherlands
    Am J Hum Genet 69:198-203. 2001
    ..Our findings suggest that CRB1 mutations are a frequent cause of LCA and are strongly associated with the development of Coats-like exudative vasculopathy in patients with RP...
  26. ncbi Rare forms of autosomal recessive neurodegenerative ataxia
    Michel Koenig
    Institut de Genetique et de Biologie Moleculaire et Cellulaire, CNRS INSERM Universite Louis Pasteur, Illkirch, France
    Semin Pediatr Neurol 10:183-92. 2003
    ....
  27. ncbi Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population
    Dikla Bandah-Rozenfeld
    Department of Ophthalmology, Hadassah Hebrew University Medical Center, Jerusalem, Israel
    Invest Ophthalmol Vis Sci 51:4387-94. 2010
    ..To characterize the role of EYS, a recently identified retinal disease gene, in families with inherited retinal degenerations in the Israeli and Palestinian populations...
  28. ncbi Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion
    V Campuzano
    Department de Genetica, University of Valencia, Spain
    Science 271:1423-7. 1996
    ..A few FRDA patients were found to have point mutations in X25, but the majority were homozygous for an unstable GAA trinucleotide expansion in the first X25 intron...
  29. pmc Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness
    T Ben-Yosef
    J Med Genet 38:396-400. 2001
  30. ncbi A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly
    Asma Gul
    Department of Biochemistry, Faculty of Biological Sciences, Quaid i Azam University, Islamabad, Pakistan
    J Hum Genet 51:760-4. 2006
    ..12-q12.13. Sequence analysis of exon 11 of CENPJ gene, located at MCPH6 locus, revealed a novel four base pair deletion mutation, which is predicted to be protein truncating...
  31. pmc Molecular and phenotypic analysis of 25 recessive, homozygous-viable alleles at the mouse agouti locus
    Rosalynn J Miltenberger
    Life Sciences Division, Oak Ridge National Laboratory, Oak Ridge, Tennessee 37831, USA
    Genetics 160:659-74. 2002
    ....
  32. ncbi Long-term outcome of haematopoietic stem cell transplantation in autosomal recessive osteopetrosis: an EBMT report
    G J A Driessen
    Department of Pediatrics, Medical Center Rijnmond Zuid, Rotterdam, The Netherlands
    Bone Marrow Transplant 32:657-63. 2003
    ..Most children attended regular school or education for the visually handicapped. At present, HSCT is the only curative treatment for autosomal recessive osteopetrosis and should be offered as early as possible...
  33. ncbi A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma
    S H Friend
    Nature 323:643-6. 1986
    ..The cDNA fragment detects a locus spanning at least 70 kilobases (kb) in human chromosome band 13q14, all or part of which is frequently deleted in retinoblastomas and osteosarcomas...
  34. ncbi Candidate gene strategy reveals ENAM mutations
    H Y Kang
    Department of Cell and Developmental Biology, Dental Research Institute and BK21 Program, School of Dentistry, Seoul National University, Seoul, Korea
    J Dent Res 88:266-9. 2009
    ..14917delT, c.2991delT), which is predicted to result in a frameshift with a premature termination codon (p.L998fsX1062). This result supports the use of a candidate-gene-based strategy to study the genetic basis for AI...
  35. pmc Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations
    Matteo M Guerrini
    Istituto di Tecnologie Biomediche, Consiglio Nazionale delle Ricerche, Segrate 20090, Italy
    Am J Hum Genet 83:64-76. 2008
    ..Our results indicate that TNFRSF11A mutations can cause a clinical condition in which severe ARO is associated with an immunoglobulin-production defect...
  36. ncbi Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia
    Ghada El Euch-Fayache
    Department of Neurology, National Institute of Neurology, Tunis, Tunisia
    Arch Neurol 60:982-8. 2003
    ..Recently, we identified a Tunisian kindred demonstrating linkage to the ARSACS locus...
  37. ncbi Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness
    S Masmoudi
    Laboratoire de Génétique Moléculaire Humaine, Faculte de Medecine, Sfax, Tunisie
    Hum Mutat 18:101-8. 2001
    ....
  38. pmc Pathogenic mutations but not polymorphisms in congenital and childhood onset autosomal recessive deafness disrupt the proteolytic activity of TMPRSS3
    Y J Lee
    J Med Genet 40:629-31. 2003
  39. ncbi Identification of a SACS gene missense mutation in ARSACS
    T Ogawa
    Department of Neurology, Jichi Medical School, Tochigi, Japan
    Neurology 62:107-9. 2004
    ..The authors identified a homozygous missense mutation (T7492C) in the SACS gene, which resulted in the substitution of arginine for tryptophan at amino acid residue 2498 (W2498R)...
  40. pmc Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta
    P S Hart
    J Med Genet 41:545-9. 2004
  41. ncbi The mutational spectrum of human malignant autosomal recessive osteopetrosis
    C Sobacchi
    Department of Human Genome and Multifactorial Disease, Istituto di Tecnologie, Biomediche Avanzate, Consiglio Nazionale delle Ricerche, Via Fratelli Cervi 93, 20090 Segrate Mi, Italy
    Hum Mol Genet 10:1767-73. 2001
    ..This study contributes to the determination of genetic heterogeneity of arOP and allows further delineation of the other genetic defects causing this severe condition...
  42. pmc A recessive genetic screen for host factors required for retroviral infection in a library of insertionally mutated Blm-deficient embryonic stem cells
    Wei Wang
    Department of Cell Biology and Genetics, College of Life Sciences, Peking University, Beijing, PR China
    Genome Biol 8:R48. 2007
    ..In order to identify the host factors involved in retroviral infection, we designed and implemented a scheme for identifying ES cells that are resistant to retroviral infection and subsequent cloning of the mutated gene...
  43. ncbi A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome
    E Kalay
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    J Mol Med (Berl) 83:1025-32. 2005
    ..Ophthalmologic examination and vestibular evaluation of patients from both families revealed mild retinitis pigmentosa and normal vestibular function. These results suggest that these patients suffer from atypical USH...
  44. ncbi Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism
    Laura Silvestri
    Human Molecular Genetics Unit, DIBIT San Raffaele Scientific Institute, Milan, Italy
    Hum Mol Genet 14:3477-92. 2005
    ..We also demonstrate the mitochondrial localization of both wild-type and mutant PINK1 proteins unequivocally and prove that a short N-terminal part of PINK1 is sufficient for its mitochondrial targeting...
  45. pmc Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders
    Alberta A H J Thiadens
    Department of Ophthalmology, Erasmus Medical Centre, Rotterdam, The Netherlands
    Am J Hum Genet 85:240-7. 2009
    ..Our findings identify PDE6C as a gene for cone photoreceptor disorders and show that arCD and ACHM constitute genetically and clinically overlapping phenotypes...
  46. pmc Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34
    A H Nemeth
    Wellcome Trust Centre for Human Genetics, Oxford OX3 7BN, United Kingdom
    Am J Hum Genet 67:1320-6. 2000
    ..9-cM interval on chromosome 9q34. This work will ultimately allow the disease gene to be identified and its relevance to other types of autosomal recessive cerebellar ataxias to be determined...
  47. pmc A novel sacsin mutation in a Japanese woman showing clinical uniformity of autosomal recessive spastic ataxia of Charlevoix-Saguenay
    S Okawa
    J Neurol Neurosurg Psychiatry 77:280-2. 2006
  48. ncbi Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3
    Stephan Klebe
    INSERM U679, Federative Institute for Neuroscience Research IFR70, Salpetriere Hospital, Paris, France
    Brain 129:1456-62. 2006
    ..The phenotype of the linked family consists of spastic paraparesis and peripheral neuropathy associated with slight cerebellar signs confirmed by cerebellar atrophy on one CT scan...
  49. pmc A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2
    G F Leal
    J Med Genet 40:540-2. 2003
  50. ncbi The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro
    Michel Guipponi
    Division of Medical Genetics, University of Geneva Medical School, and Geneva University Hospitals, Switzerland
    Hum Mol Genet 11:2829-36. 2002
    ....
  51. ncbi Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle
    Gert Van Goethem
    Hum Mutat 22:175-6. 2003
  52. pmc MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta
    J W Kim
    J Med Genet 42:271-5. 2005
  53. ncbi NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome
    N Boute
    INSERM U423, Tour Lavoisier, Universite Rene Descartes, Paris, France
    Nat Genet 24:349-54. 2000
    ..We found ten different NPHS2 mutations, comprising nonsense, frameshift and missense mutations, to segregate with the disease, demonstrating a crucial role for podocin in the function of the glomerular filtration barrier...
  54. ncbi New mutation in the non-gigantic exon of SACS in Japanese siblings
    Yuhei Takado
    Mov Disord 22:748-9. 2007
  55. ncbi An unusual case of a spasticity-lacking phenotype with a novel SACS mutation
    Haruo Shimazaki
    Division of Neurology, Department of Internal Medicine, Jichi Medical University, Yakushiji 3311 1, Shimotsuke, Tochigi 329 0498, Japan
    J Neurol Sci 255:87-9. 2007
    ..5988-9 del CT) of the SACS gene, but the genotype was different from that in our first family of this phenotype. A further genotype-phenotype correlation study is required to clarify the molecular mechanism underlying 'sacsinopathies'...
  56. ncbi The genetics of Parkinson disease: Implications for neurological care
    Christine Klein
    Department of Neurology, Lübeck University, Lubeck, Germany
    Nat Clin Pract Neurol 2:136-46. 2006
    ..In the absence of consensus guidelines for DNA testing in PD and of any neuroprotective treatment for this nonfatal disorder, we remind ourselves of the omnipresent mandate, 'Primum nil nocere!' ('First, do no harm!')...
  57. pmc Null RPGRIP1 alleles in patients with Leber congenital amaurosis
    T P Dryja
    The Ocular Molecular Genetics Institute and the Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School and the Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA
    Am J Hum Genet 68:1295-8. 2001
    ..Patients with RPGRIP1 mutations have a degeneration of both rod and cone photoreceptors, and, early in life, they experience a severe loss of central acuity, which leads to nystagmus...
  58. ncbi Deletions that reveal recessive genes
    David J Coman
    Eur J Hum Genet 15:1103-4. 2007
  59. ncbi Mismatch repair genes identified using genetic screens in Blm-deficient embryonic stem cells
    Ge Guo
    The Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK
    Nature 429:891-5. 2004
    ..The combination of insertional mutagenesis in Blm-deficient ES cells establishes a new approach for phenotype-based recessive genetic screens in ES cells...
  60. ncbi Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): high-resolution physical and transcript map of the candidate region in chromosome region 13q11
    J C Engert
    Montreal General Hospital Research Institute, McGill University, Quebec, Canada
    Genomics 62:156-64. 1999
    ..Six BAC/PAC clones form a contig between D13S232 and D13S787 for sequencing within the ARSACS critical region...
  61. ncbi CD4 and CD8 T lymphocyte inheritance. Evidence for major autosomal recessive genes
    M Clementi
    Genetica Clinica ed Epidemiologica, Dipartimento di Pediatria, Padova, Italy
    Hum Genet 105:337-42. 1999
    ..Our findings have some practical implications. Among all, the knowledge of the CD4+ cell number and the proportion between CD4+ and CD8+ T cells could be a useful parameter in predicting human immunodeficiency virus infection outcome...
  62. ncbi Characterization of two recessive genes controlling resistance to all races of bacterial spot in peppers
    C Eduardo Vallejos
    Department of Horticultural Sciences, University of Florida, Gainesville, FL 32611, USA
    Theor Appl Genet 121:37-46. 2010
    ..Characterization of this resistance has identified two recessive genes: bs5 and bs6...
  63. pmc Molecular basis of dark-eyed albinism in the mouse
    A Schmidt
    Swiss Institute for Experimental Cancer Research ISREC, Epalinges
    Proc Natl Acad Sci U S A 91:4756-60. 1994
    ..This showed that the single base change was sufficient to severely depress pigment production in transgenic mice. We therefore conclude that the point mutation is responsible and sufficient to generate the dark-eyed albino phenotype...
  64. ncbi Adult-onset autosomal recessive ataxia with thalamic lesions in a Finnish family
    M Rantamaki
    Department of Neurology and the Department of Physical Medicine and Rehabilitation, Seinajoki Central Hospital, Seinajoki, Finland
    Neurology 57:1043-9. 2001
    ..To describe an unusual kindred with adult-onset ataxia and thalamic lesions detected by brain MRI...
  65. ncbi The complex clinical and genetic classification of inherited ataxias. II. Autosomal recessive ataxias
    S Di Donato
    Division of Biochemistry and Genetics, C. Besta National Neurological Institute, Via Celoria 11, I-20133 Milan, Italy
    Neurol Sci 22:219-28. 2001
    ..An updated review of the clinical, genetic, and pathogenic aspects of recessive ataxias is presented. Specific management problems with respect to diagnosis and genetic counseling are discussed...
  66. pmc Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3
    B Bonne-Tamir
    Department of Human Genetics, Sackler School of Medicine, Tel Aviv University, Ramat Aviv, Israel
    Am J Hum Genet 58:1254-9. 1996
    ..As candidate genes at these and other deafness loci are isolated and characterized, their roles in hearing will be revealed and may lead to development of mechanisms to prevent deafness...
  67. ncbi A non-epistatic interaction of agouti and extension in the fox, Vulpes vulpes
    D I Vage
    Department of Animal Science, Agricultural University of Norway, As, Norway
    Nat Genet 15:311-5. 1997
    ....
  68. ncbi A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection
    M J Newport
    Department of Pediatrics, Imperial College School of Medicine at St Mary s, London, United Kingdom
    N Engl J Med 335:1941-9. 1996
    ..We studied four children who had an unexplained genetic susceptibility to mycobacterial infection and who appeared to have inherited the same recessive mutation from a common ancestor...
  69. ncbi Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1
    J T Thomas
    Craniofacial and Skeletal Diseases Branch, National Institute of Dental Research, National Institutes of Health, Bethesda, Maryland 20892, USA
    Nat Genet 17:58-64. 1997
    ..The mutation and its proposed mechanism of action provide the first human genetic indication that composite expression patterns of different BMPs dictate limb and digit morphogenesis...
  70. pmc Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa
    Rob W J Collin
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, 6525 GA Nijmegen, The Netherlands
    Am J Hum Genet 83:594-603. 2008
    ..With a size of 2 Mb, it is one of the largest human genes, and it is by far the largest retinal dystrophy gene. The discovery of EYS might shed light on a critical component of photoreceptor morphogenesis...
  71. pmc Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma
    H Azzedine
    U289 INSERM, Assistance Publique Hopitaux de Paris, Groupe Hospitalier Pitie Salpetriere, Paris, France
    Am J Hum Genet 72:1141-53. 2003
    ..MTMR13 may be important for the development of both the peripheral nerves and the trabeculum meshwork, which permits the outflow of the aqueous humor. Both of these tissues have the same embryonic origin...
  72. ncbi EYS is a major gene for rod-cone dystrophies in France
    Isabelle Audo
    INSERM U968, Department of Genetics, Institut de la Vision, UPMC Univ Paris 06, 17 rue Moreau, Paris, France
    Hum Mutat 31:E1406-35. 2010
    ..With a prevalence of 12% or more we provide evidence that EYS is a major gene for RP in France and probably elsewhere...
  73. pmc Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter
    A P Jackson
    Molecular Medicine Unit, St James s University Hospital, Leeds LS9 7TF, United Kingdom
    Am J Hum Genet 63:541-6. 1998
    ..1 at D8S277). In addition, we have demonstrated the genetic heterogeneity of this condition by analyzing a total of nine consanguineous families with primary microcephaly...
  74. ncbi Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia
    Eleonora Lamantea
    Unit of Molecular Neurogenetics Pierfranco and Luisa Mariani Center for the Study of Children s Mitochondrial Disorders, National Neurological Institute C Besta, Milan, Italy
    Ann Neurol 52:211-9. 2002
    ....
  75. ncbi A common founder mutation of CERKL underlies autosomal recessive retinal degeneration with early macular involvement among Yemenite Jews
    Noa Auslender
    Department of Genetics, The Rappaport Family Institute for Research in the Medical Sciences, Faculty of Medicine, Technion Israel Institute of Technology, Haifa, Israel
    Invest Ophthalmol Vis Sci 48:5431-8. 2007
    ..To investigate the genetic basis and clinical manifestations of a characteristic form of retinal degeneration in the Yemenite Jewish population...
  76. pmc Localization of a gene for an autosomal recessive form of juvenile Parkinsonism to chromosome 6q25.2-27
    H Matsumine
    Department of Neurology, Juntendo University School of Medicine, Bunkyo, Tokyo, Japan
    Am J Hum Genet 60:588-96. 1997
    ..Delineation of the AR-JP gene will be an important step toward our understanding of the molecular mechanism underlying selective degeneration of the nigral neurons...
  77. pmc Quantification of homozygosity in consanguineous individuals with autosomal recessive disease
    C Geoffrey Woods
    Department of Medical Genetics, Cambridge Institute of Medical Research, University of Cambridge, Addenbrooke s Hospital, Cambridge, CB2 2XY, UK
    Am J Hum Genet 78:889-96. 2006
    ..This has important clinical and research implications...
  78. ncbi Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene
    Rosa Vargas-Poussou
    Centre Hospitalier Universitaire de Rouen, Département de Pédiatrie Médicale, and Faculté de Médecine et de Pharmacie, Rouen, France
    J Am Soc Nephrol 17:1437-43. 2006
    ..The data also demonstrate that mutations in either of these genes may cause early deafness, and they highlight the importance of genetic screening for recessive forms of dRTA independent of hearing status...
  79. ncbi A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q
    Fabienne Barbet
    Unité de Recherches sur les Handicaps, Génétiques de l Enfant, Hopital Necker Enfants Malades, Paris, France
    Eur J Hum Genet 11:966-71. 2003
    ....
  80. ncbi Biochemical defects in ABCR protein variants associated with human retinopathies
    H Sun
    Department of Molecular Biology and Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    Nat Genet 26:242-6. 2000
    ..To address these questions, we performed a functional analysis of human ABCR and its variants. These experiments reveal a wide spectrum of biochemical defects in these variants and provide insight into the transport mechanism of ABCR...
  81. ncbi Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL
    Cristina Sobacchi
    Institute of Biomedical Technologies, Consiglio Nazionale delle Ricerche, via F Cervi 93, 20090 Segrate, Italy
    Nat Genet 39:960-2. 2007
    ....
  82. pmc SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia
    C Paisan-Ruiz
    Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, 35 Lincoln Drive, Building 35, Room 1A1015, Bethesda, MD 20824, USA
    Neurology 70:1384-9. 2008
    ..Recently, the gene encoding spatacsin (KIAA1840) has been shown to contain mutations that underlie the majority of ARHSP-TCC cases...
  83. ncbi Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation
    C M Quinzii
    Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA
    Neurology 64:539-41. 2005
    ..The authors' observations indicate that CoQ10 deficiency may contribute to the pathogenesis of AOA1...
  84. ncbi Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine
    P M Deen
    Department of Cell Physiology, University of Nijmegen, Netherlands
    Science 264:92-5. 1994
    ..Functional expression studies in Xenopus oocytes revealed that each mutation resulted in nonfunctional water channel proteins. Thus, aquaporin-2 is essential for vasopressin-dependent concentration of urine...
  85. pmc Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family
    Haiba Kaul
    National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan
    Mol Vis 16:511-7. 2010
    ..To investigate the genetic basis of autosomal recessive congenital cataracts in a consanguineous Pakistani family...
  86. ncbi A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy
    R Allikmets
    Laboratory of Genomic Diversity, SAIC Frederick, National Cancer Institute Frederick Cancer Research and Development Center, Maryland 21702 1201, USA
    Nat Genet 15:236-46. 1997
    ..Mutational analysis of ABCR in STGD families revealed a total of 19 different mutations including homozygous mutations in two families with consanguineous parentage. These data indicate that ABCR is the causal gene of STGD/FFM...
  87. pmc The molecular landscape of ASPM mutations in primary microcephaly
    A K Nicholas
    Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, CB2 0XY, UK
    J Med Genet 46:249-53. 2009
    ..The condition is genetically heterogeneous with mutations in ASPM being most commonly reported...
  88. ncbi Mutation analysis of congenital cataracts in Indian families: identification of SNPS and a new causative allele in CRYBB2 gene
    Sathiyavedu T Santhiya
    Dr ALM Postgraduate Institute of Basic Medical Sciences, Department of Genetics, University of Madras, Taramani, Chennai, India
    Invest Ophthalmol Vis Sci 45:3599-607. 2004
    ..To study some functional candidate genes in cataract families of Indian descent...
  89. ncbi Genomewide homozygosity mapping and molecular analysis of a candidate gene located on 22q13 (fibulin-1) in a previously undescribed vitreoretinal dystrophy
    Maike Weigell-Weber
    Institute of Medical Genetics, University of Zurich, Switzerland
    Arch Ophthalmol 121:1184-8. 2003
    ..To localize the gene that causes an autosomal recessively inherited vitreoretinal dystrophy that has not been described, to our knowledge, and to analyze a candidate gene mapped to 22q13 (fibulin-1 [FBLN1])...
  90. pmc Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling
    Elen Griffith
    Medical Research Council MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK
    Nat Genet 40:232-6. 2008
    ..These findings also suggest that other known microcephaly genes implicated in either DNA repair responses or centrosomal function may act in common developmental pathways determining human brain and body size...
  91. ncbi Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration
    Giovanni Stevanin
    1INSERM, U679, Universite Pierre et Marie Curie Paris 6, UMR S679, Paris, France
    Brain 131:772-84. 2008
    ..In conclusion, our study reveals the high frequency of SPG11 mutations in patients with HSP, a TCC and cognitive impairment, including in isolated patients, and extends the associated phenotype...
  92. ncbi A two-stage approach identifies a Q344X mutation in the rhodopsin gene of a Chinese Singaporean family with autosomal dominant retinitis pigmentosa
    R Y Y Yong
    Centre for Biomedical Sciences, Defence Medical and Enviromental Research Institute, DSO National Laboratories, Singapore
    Ann Acad Med Singapore 34:94-9. 2005
    ..Using a two-stage approach by combining linkage analysis with mutation detection, we have rapidly identified the gene locus and the mutation site of a Chinese Singaporean family with autosomal dominant RP...
  93. ncbi A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease
    N Abbas
    INSERM U289, Hopital de la Salpetriere, 47 Boulevard de l Hopital, 75651 Paris Cedex 13, France
    Hum Mol Genet 8:567-74. 1999
    ....
  94. pmc Autosomal recessive retinitis pigmentosa and E150K mutation in the opsin gene
    Li Zhu
    Department Chemistry, University of Washington, Seattle, Washington 98195, USA
    J Biol Chem 281:22289-98. 2006
    ..This result is consistent with the recessive pattern of inheritance of this mutation. Thus, our study reveals a novel molecular mechanism for retinal degeneration that results from deficient export of opsin from the Golgi apparatus...
  95. ncbi Dominant and recessive distal renal tubular acidosis mutations of kidney anion exchanger 1 induce distinct trafficking defects in MDCK cells
    Emmanuelle Cordat
    Department of Biochemistry, University of Toronto, Toronto, Ontario M5S 1A8, Canada
    Traffic 7:117-28. 2006
    ..Therefore, compound heterozygous patients expressing both recessive mutants (G701D/S773P) likely developed dRTA due to the lack of a functional kAE1 at the basolateral surface of alpha-intercalated cells...
  96. pmc TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy
    Sylvain Hanein
    Département de génétique, Universite Paris Descartes, Unité INSERM U781, Hopital Necker Enfants Malades, 75015 Paris, France
    Am J Hum Genet 84:493-8. 2009
    ....
  97. ncbi Identification of novel mutations in the ortholog of Drosophila eyes shut gene (EYS) causing autosomal recessive retinitis pigmentosa
    Mai M Abd El-Aziz
    Department of Genetics, Institute of Ophthalmology, London, UK
    Invest Ophthalmol Vis Sci 51:4266-72. 2010
    ..This study was conducted to determine the spectrum and frequency of EYS mutations in 195 unrelated patients with autosomal recessive and autosomal dominant RP (adRP)...
  98. ncbi CERKL mutations and associated phenotypes in seven Spanish families with autosomal recessive retinitis pigmentosa
    Almudena Avila-Fernandez
    Department of Genetics, Fundacion Jimenez Diaz CIBERER, Madrid, Spain
    Invest Ophthalmol Vis Sci 49:2709-13. 2008
    ..It encodes a ceramide kinase that is assumed to be involved in sphingolipid-mediated apoptosis in the retina. This is a report of the phenotypes and genotypes of persons carrying disease-causing mutations in CERKL...
  99. ncbi Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: Novel sequence variants in ASPM gene
    Asma Gul
    Department of Biochemistry, Faculty of Biological Sciences, Quaid i Azam University Islamabad, Islamabad, Pakistan
    Neurogenetics 7:105-10. 2006
    ..One of the variants, 9539A>C (Q3180P), occurred in the IQ 79 domain, but its functional significance awaits definition...
  100. pmc Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation
    E Roberts
    Molecular Medicine Unit, University of Leeds, Leeds, UK
    J Med Genet 39:718-21. 2002
    ..However, the relative contributions of these loci have not been assessed and genotype-phenotype correlations have not been investigated...
  101. pmc Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss
    E H Stover
    Department of Medical Genetics, University of Cambridge, UK
    J Med Genet 39:796-803. 2002
    ..These findings provide further evidence for genetic heterogeneity in rdRTA, extend the spectrum of disease causing mutations in ATP6V1B1 and ATP6V0A4, and show ATP6V0A4 expression within the cochlea for the first time...

Research Grants68

  1. AUDITORY GENETIC STUDIES OF HEREDITARY HEARING LOSS
    Linda Hood; Fiscal Year: 2002
    ..The studies proposed will evaluate the impact of carrying recessive genes on auditory physiology by testing the hypothesis that carriers of genes for hearing loss themselves have ..
  2. GENETIC ANALYSIS OF AGING IN THE TRUE SLIME MOLDS
    Jimmy Clark; Fiscal Year: 1980
    ..enough data to finish the analysis of an apparently complex polygenic system overlaid with several dominant-recessive genes which may be semi-lethals...
  3. MOUSE MODELS OF OVARIAN CANCER
    Thomas Hamilton; Fiscal Year: 2003
    ..In the case of recessive genes, i.e...
  4. GENETIC ALTERATIONS IN PROGRESSION OF HUMAN MELANOMA
    Yaacov Ben David; Fiscal Year: 1992
    ..Host genomic DNA flanking such integration sites will be cloned as a means of identifying putative dominant or recessive genes which contribute to melanoma progression.
  5. CREATION OF A DNA REPOSITORY TO IDENTIFY DEAFNESS GENES
    Walter Nance; Fiscal Year: 2004
    ..abstract_text> ..
  6. Gene Modifiers of Retinal Degeneration
    HENRY DANCIGER; Fiscal Year: 2009
    ..This would make therapeutic approaches simpler. ..
  7. RPE65 IN RETINAL METABOLISM AND DEGENERATION
    Debra Thompson; Fiscal Year: 2005
    ..The long-term goals of this project are to elucidate the mechanisms by which RPE65 defects contribute to retinal degeneration, and to lay the groundwork for the development of therapeutic approaches to the disease. ..
  8. GENETIC STUDIES OF NONSYNDROMIC DEAFNESS
    Walter Nance; Fiscal Year: 2001
    ..In addition, blood spots from all available students at the School for the Deaf in Ulaanbaatar will be screened for the mitochondrial mutation that is associated with sensitivity to streptomycin. ..
  9. Functional characterization of the gene NPHP4
    Friedhelm Hildebrandt; Fiscal Year: 2007
    ..abstract_text> ..
  10. 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. ..
  11. CANDIDATE GENE STUDY OF INHERITED RETINAL DEGENERATIONS
    Thaddeus Dryja; Fiscal Year: 2005
    ....
  12. Identifying & Characterizing Prodromal Schizophrenia
    Todd Lencz; Fiscal Year: 2007
    ..This study will provide the candidate with the knowledge and research experience necessary to apply for an R01 to expand upon this research from a neurodevelopmental perspective. ..
  13. 2006 NOX Family NADPH Oxidases Gordon Conference
    WILLIAM NAUSEEF; Fiscal Year: 2006
    ..unreadable] [unreadable] [unreadable] [unreadable]..
  14. Therapeutic Approaches to HAART-Induced Lipodystrophy
    Abhimanyu Garg; Fiscal Year: 2006
    ..Additionally, the study may help prevent these problems in HIV-infected patients being initiated on PI-containing HAART. ..
  15. Gene Therapy of Autosomal Recessive RP
    Simon Petersen Jones; Fiscal Year: 2006
    ..abstract_text> ..
  16. Admixture Mapping Schizophrenia Genes in Oceanic Palau
    Bernie Devlin; Fiscal Year: 2006
    ..Collaborating sites are the University of Pittsburgh (Devlin), Carnegie Mellon University (Roeder, subcontract to Pitt) and University of California Irvine (Byerley). ..
  17. Identification and characterization of the ALS4 gene
    PHILLIP CHANCE; Fiscal Year: 2006
    ..Specific Aim (5) is to develop an animal model of ALS4 by introducing an identified disease-causing mutation into the germline of the mouse by employing either transgenesis or gene targeting. ..
  18. COLLAGEN BIOSYNTHESIS OF CULTURED FIBROBLASTS
    Jouni Uitto; Fiscal Year: 2006
    ....
  19. Examination of the role of LPIN2 variations in skin and bone inflammation
    Hatem El Shanti; Fiscal Year: 2007
    ..Understanding the mechanisms behind psoriasis and CRMO is very important for the development of appropriate therapy. [unreadable] [unreadable] [unreadable]..
  20. LINKAGE STUDY OF JUVENILE GLAUCOMA
    Janey Wiggs; Fiscal Year: 2008
    ..3) Screen candidate genes located in the RIEG2 region on chromosome 13q14. 4) Correlate mutations in genes known to cause glaucoma with clinical phenotypes. ..
  21. HERITAGE FAMILY STUDY, PHASE 4
    Tuomo Rankinen; Fiscal Year: 2010
    ..abstract_text> ..
  22. THE GENETIC BASIS OF CHOLESTASIS
    Laura Bull; Fiscal Year: 2009
    ..abstract_text> ..
  23. A Genome-wide Association Study of Childhood Respiratory Outcomes
    WILLIAM GAUDERMAN; Fiscal Year: 2009
    ..End of Abstract) ..
  24. FAMILIAL COLORECTAL NEOPLASIA COLLABORATIVE GROUP
    Noralane Lindor; Fiscal Year: 2007
    ..fs20\par \par } ..
  25. Genetic Disorders of Mucociliary Clearance
    Michael Knowles; Fiscal Year: 2008
    ..Finally, we will work with the DTCC to coordinate and expand current websites to provide information to the lay public, patients, and medical professionals for education, referral, and recruitment of study subjects. ..
  26. Genetics of Schizophrenia in Oceanic Palau.
    Bernie Devlin; Fiscal Year: 2010
    ..Molecular and fine-mapping studies will identify risk loci. We believe this study is unique among studies of Scz genetics for its population, sample, the research team and the novelty of hypotheses and approach. ..
  27. Genetics and Pharmacogenetics in FSGS (PPG Project 4)
    Lisa Guay Woodford; Fiscal Year: 2007
    ..unreadable]..
  28. MOLECULAR BASIS OF HEREDITARY NEURALGIC AMYOTROPHY
    PHILLIP CHANCE; Fiscal Year: 2008
    ..Moreover, characterization of the HNA gene may have broader pathophysiological and therapeutic implications for more common idiopathic forms of brachial neuropathy. [unreadable] [unreadable]..
  29. Association of inflammatory genes and prostate cancer
    Jianfeng Xu; Fiscal Year: 2008
    ..Answers to these questions will significantly improve our knowledge of the role of inflammation in prostate cancer and will guide our efforts in identifying additional prostate cancer genes. ..
  30. Cystin, a lipid raft and cilia-associated protein in PKD
    Lisa Guay Woodford; Fiscal Year: 2008
    ..unreadable] [unreadable] [unreadable] [unreadable]..
  31. Functional Architecture of Developmental Brain Disorder
    Bernard Chang; Fiscal Year: 2008
    ..By combining training in these two areas, the candidate will gain the experience and skills necessary to transition to an independent career in clinical neuroscience research. [unreadable] [unreadable]..
  32. Molecular networks: programming normal renal development and modeling disease pat
    Lisa Guay Woodford; Fiscal Year: 2007
    ..The meeting will be held in Pecs, Hungary from August 27-30, 2007, immediately preceding the 14th IPNA Congress in Budapest, Hungary (August 31- September 4, 2007). [unreadable] [unreadable] [unreadable]..
  33. TRANSMISSION ELECTRON MICROSCOPE
    Martin Katz; Fiscal Year: 2006
    ..Broadening the user base will help make the cost per user of maintaining the instrument as low as possible. [unreadable] [unreadable]..
  34. Models of Familial Parkinson's Disease: PINK1
    Ted Dawson; Fiscal Year: 2006
    ....
  35. MOUSE MODELS OF DOWN SYNDROME: PHENOTYPIC MAPPING
    Charles Epstein; Fiscal Year: 2002
    ....
  36. POSITIONAL CLONING OF A GENE FOR ESSENTIAL TREMOR
    Joseph Higgins; Fiscal Year: 2004
    ..abstract_text> ..
  37. HYPOHIDROTIC ECTODERMAL DYSPLASIA--A GENETIC ANALYSIS
    Jonathan Zonana; Fiscal Year: 2002
    ..At the same time, the new knowledge should rapidly result in improved genetic diagnosis and counseling, and may even suggest avenues for future therapies. ..
  38. FAMILIAL PRIMARY OPEN ANGLE GLAUCOMA
    Janey Wiggs; Fiscal Year: 2004
    ..Initial genome screens to identify genes responsible for two POAG risk factors, ocular hypertension (OHT) and pseudoexfoliation (PEX), will be performed. ..
  39. GENETIC DETERMINANTS OF PLASMA LIPOPROTEINS
    Jonathan Cohen; Fiscal Year: 2002
    ..These studies will help to determine the role of variation in hepatic lipase activity in determining plasma HDL concentrations, and LDL size distribution, two important risk factors for coronary artery disease. ..
  40. NEURONAL DEGENERATION HEREDITARY CEROID-LIPOFUSCINOSIS
    Martin Katz; Fiscal Year: 2003
    ....
  41. STATISTICAL APPROACHES TO THE STUDY OF GXE INTERACTIONS
    W Gauderman; Fiscal Year: 2002
    ..Successful completion of these aims will improve our understanding of how GxE interaction influences disease risk, and how we can optimally design studies and analyze data to find and characterize such genes. ..
  42. ENCAPSULATION OF PLASMODIUM PARASITES BY ANOPHELES GAMBI
    Liangbiao Zheng; Fiscal Year: 2003
    ..cynomolgi B and Ceylon and P. falciparum. ..
  43. Candidate Gene(s) for Pigeon Atherosclerosis
    Samuel Smith; Fiscal Year: 2003
    ..The candidate genes will be cloned and sequenced, and the products or functions deduced from existing genomic databases. ..
  44. AGE RELATED DEGENERATION
    Charles Epstein; Fiscal Year: 2002
    ....
  45. 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. ..
  46. GENETIC STUDIES OF MINERALOCORTICOID FUNCTION
    David Geller; Fiscal Year: 2004
    ....
  47. Gene Activation by Remote Transcriptional Enhancers
    Dale Dorsett; Fiscal Year: 2004
    ..This will help illuminate the basic mechanisms underlying gene expression defects that occur in some human diseases. ..
  48. INORGANIC PYROPHOSPHATE METABOLISM IN ARTHRITIS
    Lawrence Ryan; Fiscal Year: 2006
    ..The intent of these studies is to develop insights into the pathogenesis of CPPD deposition disease so that therapeutic options may be generated. ..
  49. TWO-LOCUS MODELS, HETEROGENEITY AND DIABETES
    David Greenberg; Fiscal Year: 2006
    ..abstract_text> ..
  50. Molecular Pathways of Host Susceptibility to Legionella
    WILLIAM DIETRICH; Fiscal Year: 2006
    ..abstract_text> ..
  51. CHAPERONES AND PROTEIN BIOSYNTHESIS IN MYELOID CELLS
    WILLIAM NAUSEEF; Fiscal Year: 2005
    ..The applicants believe that these will define principles that apply not only to these specific myeloid proteins but to proteins in general that acquire heme in the ER. ..
  52. Schizophrenia Predisposition in 22q11 Deletion Syndrome
    Vandana Shashi; Fiscal Year: 2005
    ..abstract_text> ..
  53. GENETIC RISK FACTORS FOR NICOTINE ADDICTION
    Alexander Glassman; Fiscal Year: 2004
    ..Detecting these genes would be a significant first step in our understanding of the genetic variation of addiction to nicotine and possibly other drugs of abuse. ..
  54. WAVE DNA Fragment Analysis System
    Jouni Uitto; Fiscal Year: 2001
    ..It is highly suitable for analysis of a set of genes in a large number of individuals as well as identification of mutations and polymorphisms in many genes of interest. ..
  55. INTEGRATIVE APPROACH TO CORONARY THROMBOSIS
    Robert Montgomery; Fiscal Year: 2001
    ..This proposal offers a unique integrative approach to further our understanding of coronary pathophysiology and the role of the GPIba receptor, based on a detailed understanding of function both in vivo and in vitro. ..
  56. STATISTICAL MODELS OF GENETIC ANTICIPATION IN PSYCHIATRY
    Jian Huang; Fiscal Year: 2002
    ..Initial research will concentrate on new statistical tests for age-of-onset anticipation. Subsequently more general segregation and linkage models incorporating age-of-onset distributions for complex disorders will be developed. ..
  57. MECHANISMS OF LIPODYSTROPHY IN HIV INFECTED PATIENTS
    Abhimanyu Garg; Fiscal Year: 2002
    ..Additionally, the study may prove effectiveness and reduced toxicity of alternative antiretroviral regimens without a PI. ..
  58. Gene Polymorphisms and Kidney Transplant Outcome
    William Oetting; Fiscal Year: 2005
    ..abstract_text> ..
  59. Molecular Genetics of Glaucoma
    Val C Sheffield; Fiscal Year: 2010
    ..Candidate genes for mutations screening will be identified using a combination of expression, functional and positional information. ..
  60. A Whole Genome Admixture Scan for Multiple Sclerosis
    David Reich; Fiscal Year: 2008
    ..We will then move to a targeted haplotype-based association study in the most interesting regions to clone new genes associated with MS. ..
  61. Reading Enhancement for Patients with Visual Field Loss
    MICHAEL SANDBERG; Fiscal Year: 2004
    ....
  62. Building a Latino admixture map & pilot study to find Type 2 Diabetes risk
    David Reich; Fiscal Year: 2007
    ..The study will also enable larger admixture mapping studies with many thousands of patients with Type 2 Diabetes, which we would like to pursue both in U.S. Latino and in Latin American populations. [unreadable] [unreadable] [unreadable]..
  63. Associating genetic variation to resistance to severe malaria in East Africa
    David Reich; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable]..
  64. Melanopsin-based form vision in photoreceptor disease
    MICHAEL SANDBERG; Fiscal Year: 2007
    ..unreadable] [unreadable]..
  65. HYPGENE-GENETICS FITNESS OBESITY & RISK OF HYPERTENSION
    Tuomo Rankinen; Fiscal Year: 2007
    ..These data could ultimately lead to more efficient use of physical activity and body weight control in the primary and secondary prevention of hypertension. ..
  66. Molecular Mechanisms of Ectopic Bone Formation
    STEVEN LIETMAN; Fiscal Year: 2006
    ..abstract_text> ..
  67. Population structure in whole-genome disease scans
    David Reich; Fiscal Year: 2008
    ..We believe our new techniques will provide near-optimal power, and will be computationally efficient. We intend to make all these tools publicly available for the scientific community. [unreadable] [unreadable] [unreadable] [unreadable]..