Genomes and Genes
Summary: Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
Publications267 found, 100 shown here
- A novel mutation in AlphaA-crystallin (CRYAA) caused autosomal dominant congenital cataract in a large Chinese familyFeng Gu
Department of Genetics, National Research Institute for Family Planning, Beijing, China
Hum Mutat 29:769. 2008..Gain of activated lysozyme binding, elevation of hydrophobicity and loss of chaperone activity of the mutant protein may be some of the molecular mechanisms underlying cataract in this large family...
- Mutation G61C in the CRYGD gene causing autosomal dominant congenital coralliform cataractsFeifeng Li
Graduate School, Peking Union Medical College, Beijing, China
Mol Vis 14:378-86. 2008..We sought to identify the genetic defect in a four-generation Chinese family with autosomal dominant congenital coralliform cataracts and demonstrate the functional analysis of a candidate gene in the family...
- CRYBA4, a novel human cataract gene, is also involved in microphthalmiaGail Billingsley
Program of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, M5G 1X8, Canada
Am J Hum Genet 79:702-9. 2006..Protein folding would consequently be impaired, most probably leading to a structure with reduced stability in the mutant. This is the first report linking mutations in CRYBA4 to cataractogenesis and microphthalmia...
- Development of PCR-based markers linked to dominant genes for male-fertility restoration in Pampa CMS of rye (Secale cereale L.)S Stracke
Institute of Plant Breeding, Seed Science, and Population Genetics, University of Hohenheim 350, D 70593 Stuttgart, Germany
Theor Appl Genet 106:1184-90. 2003..9 cM (Rfp1) and 5.2 cM (Rfp2). The application of these markers in backcross programmes is discussed...
- Study of gene-targeted mouse models of splicing factor gene Prpf31 implicated in human autosomal dominant retinitis pigmentosa (RP)Kinga Bujakowska
Institute of Ophthalmology, University College London, London, United Kingdom
Invest Ophthalmol Vis Sci 50:5927-33. 2009..Furthermore, the dominant inheritance pattern has shown incomplete penetrance, which poses interesting questions about the disease mechanism of RP11...
- Targeted gene expression as a means of altering cell fates and generating dominant phenotypesA H Brand
Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115
Development 118:401-15. 1993..We have directed expression of an activated form of the Dras2 protein, resulting in dominant eye and wing defects that can be used in screens to identify other members of the Dras2 signal transduction pathway...
- A novel GJA8 mutation (p.I31T) causing autosomal dominant congenital cataract in a Chinese familyKaijie Wang
Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Sciences Key Lab, Beijing, China
Mol Vis 15:2813-20. 2009..To identify the genetic defect associated with autosomal dominant congenital nuclear cataract in a Chinese family...
- Dominant inheritance of retinal ganglion cell resistance to optic nerve crush in miceYan Li
Department of Ophthalmology and Visual Sciences, University of Wisconsin, Madison, Wisconsin, USA
BMC Neurosci 8:19. 2007....
- Familial keratoconus with cataract: linkage to the long arm of chromosome 15 and exclusion of candidate genesAnne E Hughes
Department of Medical Genetics, Queen s University, Belfast City Hospital, Lisburn Road, Belfast BT9 7AB, Northern Ireland, U K
Invest Ophthalmol Vis Sci 44:5063-6. 2003..Uniquely, in this family both disorders were present and fully penetrant in those affected...
- Epistasis: too often neglected in complex trait studies?Orjan Carlborg
Linnaeus Centre for Bioinformatics, Uppsala University, BMC, Box 598, SE 751 24 Uppsala, Sweden
Nat Rev Genet 5:618-25. 2004
- Beta-arrestin2 is critically involved in CXCR4-mediated chemotaxis, and this is mediated by its enhancement of p38 MAPK activationYue Sun
Laboratory of Molecular Cell Biology, Institute of Biochemistry and Cell Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, 320 Yue Yang Road, Shanghai 200031, People s Republic of China
J Biol Chem 277:49212-9. 2002....
- Widespread correlations between dominance and homozygous effects of mutations: implications for theories of dominanceNitin Phadnis
Department of Biology, University of Rochester, Rochester, New York 14627 0211, USA
Genetics 171:385-92. 2005..A complete explanation of dominance therefore requires either a generalization of Kacser and Burns' theory to nonenzyme genes or a new theory...
- G alpha o mediates WNT-JNK signaling through dishevelled 1 and 3, RhoA family members, and MEKK 1 and 4 in mammalian cellsRama Kamesh Bikkavilli
Department of Pharmacology, Health Sciences Center, State University of New York at Stony Brook, Stony Brook, NY 11794 8651, USA
J Cell Sci 121:234-45. 2008..These data reveal both common and unique signaling elements in WNT3a-sensitive pathways, highlighting crosstalk from WNT3a-JNK to WNT3a-beta-catenin signaling...
- Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomaliesSibel Ugur Iseri
Department of Physiology, Anatomy, and Genetics, University of Oxford, Oxford, United Kingdom
Hum Mutat 30:1378-86. 2009..We suggest including FOXE3 in the diagnostic genetic screening for these anomalies...
- Novel single-base deletional mutation in major intrinsic protein (MIP) in autosomal dominant cataractDavid D Geyer
Department of Ophthalmology, Rocky Mountain Lions Eye Institute, Denver, Colorado, USA
Am J Ophthalmol 141:761-3. 2006....
- A novel nonsense mutation in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcorneaLu Zhang
Eye Hospital, The First Affiliated Hospital, Harbin Medical University, Harbin, China
Mol Vis 15:276-82. 2009..To report the identification of a novel nonsense mutation in CRYGC in a Chinese family with autosomal dominant congenital nuclear cataracts and microcornea...
- Type II autosomal dominant osteopetrosis (Albers-Schönberg disease): clinical and radiological manifestations in 42 patientsO D Benichou
INSERM U 349, Hopital Lariboisiere, Paris, France
Bone 26:87-93. 2000..Although other forms of osteopetrosis are considerably more severe, the name "benign osteopetrosis" previously used for ADO II is probably a misnomer...
- The forkhead transcription factor Foxo1 (Fkhr) confers insulin sensitivity onto glucose-6-phosphatase expressionJ Nakae
Naomi Berrie Diabetes Center, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA
J Clin Invest 108:1359-67. 2001..These findings are consistent with the possibility that Foxo1 is involved in insulin regulation of glucose production by mediating the ability of insulin to decrease the glucocorticoid/cAMP response of G6p...
- COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndromeIlaria 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...
- Autosomal dominant coralliform cataract related to a missense mutation of the gammaD-crystallin geneWei Zhen Xu
Cancer Institute, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310009, China
Chin Med J (Engl) 117:727-32. 2004..About 25% of all cases are due to genetic defects. We identified autosomal dominant congenital coralliform cataracts-related genetic defect in a four-generation Chinese family...
- Pax3 is essential for skeletal myogenesis and the expression of Six1 and Eya2A G Ridgeway
Department of Biochemistry, Medical Sciences Building, University of Western Ontario, London, Ontario N6A 5C1, Canada
J Biol Chem 276:19033-9. 2001....
- Genetic etiologies of glaucomaJaney L Wiggs
Department of Ophthalmology, Harvard Medical School, Boston, Mass, USA
Arch Ophthalmol 125:30-7. 2007....
- Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosaLori S Sullivan
Human Genetics Center, The University of Texas Health Science Center at Houston, TX 77030, USA
Invest Ophthalmol Vis Sci 47:4579-88. 2006..To determine whether genomic rearrangements in the PRPF31 (RP11) gene are a frequent cause of autosomal dominant retinitis pigmentosa (adRP) in a cohort of patients with adRP...
- Requirement of BMP-2-induced phosphatidylinositol 3-kinase and Akt serine/threonine kinase in osteoblast differentiation and Smad-dependent BMP-2 gene transcriptionNandini Ghosh-Choudhury
Department of Pathology, University of Texas Health Sciences Center, San Antonio, Texas 78229, USA
J Biol Chem 277:33361-8. 2002....
- Molecular basis for the dominant white phenotype in the domestic pigS Marklund
Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, Uppsala Biomedical Centre, S 75124 Uppsala, Sweden
Genome Res 8:826-33. 1998..The EMBL accession numbers for porcine KIT1*0101, KIT1*0202, KIT2*0202, and KIT2*0101 are AJ223228-AJ223231, respectively.]..
- rab7 activity affects epidermal growth factor:epidermal growth factor receptor degradation by regulating endocytic trafficking from the late endosomeBrian P Ceresa
Department of Cell Biology, University of Oklahoma Health Sciences Center, Oklahoma City, 73190, USA
J Biol Chem 281:1099-106. 2006..EGFR complex accumulates in high-density endosomes that are characteristic of the late endocytic pathway. Thus, we conclude that rab7 regulates the endocytic trafficking of the EGF.EGFR complex by regulating its lysosomal degradation...
- Allowing for missing parents in genetic studies of case-parent triadsC 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...
- [Genetic and molecular characterization of 148 patients with autosomal dominant retinitis pigmentosa (ADRP)]E Milla
Servicio de Oftalmologia, Consorci Sanitari de Terrassa, Terrasa, Barcelona, Espana
Arch Soc Esp Oftalmol 77:481-4. 2002..Genetic characterization of a series of patients with autosomal dominant retinitis pigmentosa (ADRP)...
- Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12qV Berry
Department of Molecular Genetics, Institute of Ophthalmology, London, UK
Nat Genet 25:15-7. 2000..MIP is a member of the aquaporin family of membrane-bound water channels. The mutations identified are predicted to disturb water flux across the lens cell membrane...
- Autosomal dominant cone-rod dystrophy with mutations in the guanylate cyclase 2D gene encoding retinal guanylate cyclase-1S M Downes
Oxford Eye Hospital, Radcliffe Infirmary, Oxford OX2 6HE, England, UK
Arch Ophthalmol 119:1667-73. 2001..To describe the phenotype in 4 families with dominantly inherited cone-rod dystrophy, 1 with an R838C mutation and 1 with an R838H mutation in the guanylate cyclase 2D (GUCY2D) gene encoding retinal guanylate cyclase-1...
- Disruption of Meox or Gli activity ablates skeletal myogenesis in P19 cellsHelen Petropoulos
Department of Biochemistry, Medical Sciences Building, The University of Western Ontario, London, Ontario N6A 5C1, Canada
J Biol Chem 279:23874-81. 2004..Taken together, these results support the existence of a regulatory loop between Gli2, Meox1, and Pax3 that is essential for specification of mesodermal cells into the muscle lineage...
- Signaling and subcellular localization of the TNF receptor EdarP Koppinen
Developmental Biology Program, University of Helsinki, Helsinki, 00014, Finland
Exp Cell Res 269:180-92. 2001..This together with differences in NF-kappaB responses suggests an explanation for the different mode of inheritance of the different downless alleles...
- OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritanceU E Pesch
, Auf der Morgenstelle 15, , Germany
Hum Mol Genet 10:1359-68. 2001..Clinical examination revealed considerable variability in disease expression among patients carrying OPA1 mutations and no strict correlation with either the position or the type of mutation...
- A novel mutation in CRYAB associated with autosomal dominant congenital nuclear cataract in a Chinese familyQiang Chen
Center for Gene Diagnosis, Zhongnan Hospital, Wuhan University, Wuhan, China
Mol Vis 15:1359-65. 2009..To identify the genetic defects associated with autosomal dominant congenital nuclear cataract in a Chinese family...
- OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28C Alexander
Department of Molecular Genetics, Insititute of Ophthalmology, University College London, London, UK
Nat Genet 26:211-5. 2000..The presence of consensus signal peptide sequences suggests that the product of the gene OPA1 is targeted to mitochondria and may exert its function in mitochondrial biogenesis and stabilization of mitochondrial membrane integrity...
- A new congenital nuclear cataract caused by a missense mutation in the gammaD-crystallin gene (CRYGD) in a Chinese familyJingzhi Gu
Department of Ophthalmology, The Second Affiliated Hospital of Harbin Medicine University, Harbin, China
Mol Vis 11:971-6. 2005..To identify genetic defects associated with nuclear golden crystal autosomal dominant congenital cataract (ADCC) in a Chinese pedigree in the north of China...
- A novel deletion variant of gammaD-crystallin responsible for congenital nuclear cataractLi Yun Zhang
Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China
Mol Vis 13:2096-104. 2007..To investigate a novel deletion variant of gammaD-crystallin (CRYGD) identified in a Chinese family with nuclear congenital cataract...
- Functional impairment of lens aquaporin in two families with dominantly inherited cataractsP Francis
Department of Molecular Genetics, Institute of Ophthalmology, University College and Moorfields Eye Hospital, 11 43 Bath Street, London EC1V 9EL, UK
Hum Mol Genet 9:2329-34. 2000..Moreover, these observations predict that less severe defects in the AQP0 protein may contribute to lens opacity in patients with common, less fulminant forms of cataracts...
- Transactivation-deficient Delta TA-p73 inhibits p53 by direct competition for DNA binding: implications for tumorigenesisThorsten Stiewe
Centre for Cancer Research and Cancer Therapy, Institute of Molecular Biology, University of Essen, Medical School, D 45122 Essen, Germany
J Biol Chem 277:14177-85. 2002..Because inhibition of p53 is a common theme in human cancer, our data strongly support a role of DeltaTA-p73 expression for tumor formation...
- Gene regulatory networks generating the phenomena of additivity, dominance and epistasisS W Omholt
Department of Animal Science, Agricultural University of Norway, Aas
Genetics 155:969-80. 2000..Furthermore, the results illuminate and reconcile the prevailing explanations of heterosis, and they support the old conjecture that the phenomenon of dominance may have an evolutionary explanation related to life history strategy...
- A missense mutation S228P in the CRYBB1 gene causes autosomal dominant congenital cataractJun Wang
Beijing Tongren Eye Center, Capital Medical University, Beijing 100730, China
Chin Med J (Engl) 120:820-4. 2007..Congenital cataract is a highly heterogeneous disorder at both the genetic and phenotypic levels. This study was conducted to identify disease locus for autosomal dominant congenital cataracts in a four generation Chinese family...
- Overexpression of truncated Nmd3p inhibits protein synthesis in yeastJ P Belk
Department of Molecular Genetics and Microbiology, University of Massachusetts Medical School, Worcester 01655 0122, USA
RNA 5:1055-70. 1999..Our data suggest that Nmd3p has a role in the formation, function, or maintenance of the 60S ribosomal subunit and may provide a link for Upf1p to 80S monosomes...
- bcl-x, a bcl-2-related gene that functions as a dominant regulator of apoptotic cell deathL H Boise
Howard Hughes Medical Institute, Department of Medicine, University of Chicago, Illinois 60637
Cell 74:597-608. 1993..In contrast, bcl-xL is found in tissues containing long-lived postmitotic cells, such as adult brain. Together these data suggest that bcl-x plays an important role in both positive and negative regulation of programmed cell death...
- Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patientsIsabelle Audo
INSERM, U968, Paris, France
Invest Ophthalmol Vis Sci 51:3687-700. 2010..For genetic diagnosis, genomic DNA of 79 families was isolated by standard..
- Rab7: a key to lysosome biogenesisC Bucci
Structural Cell Biology Unit, Department of Medical Anatomy, The Panum Institute, University of Copenhagen, DK 2200 Copenhagen, Denmark
Mol Biol Cell 11:467-80. 2000..These data demonstrate for the first time that Rab7, controlling aggregation and fusion of late endocytic structures/lysosomes, is essential for maintenance of the perinuclear lysosome compartment...
- A novel mutation in GJA3 (connexin46) for autosomal dominant congenital nuclear pulverulent cataractHaisong Jiang
Health Science Center, Shanghai Institute for Biological Sciences, Chinese Academy of Science and Shanghai Second Medical University, Shanghai, People s Republic of China
Mol Vis 9:579-83. 2003..Here, we described a six-generation Chinese family presenting with morphologically homogeneous "nuclear pulverulent" cataracts...
- Tight-skin, a new mutation of the mouse causing excessive growth of connective tissue and skeletonM C Green
Am J Pathol 82:493-512. 1976....
- Pharmacological chaperone-mediated in vivo folding and stabilization of the P23H-opsin mutant associated with autosomal dominant retinitis pigmentosaSyed M Noorwez
Department of Ophthalmology, University of Florida, Gainesville 55455, USA
J Biol Chem 278:14442-50. 2003..These properties suggest that 11-cis-7-ring retinal may be a useful therapeutic agent for the rescue of P23H-opsin and the prevention of retinal degeneration...
- Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3Jan Senderek
Institute of Cell Biology, ETH Zurich, 8093 Zurich, Switzerland
Am J Hum Genet 84:511-8. 2009..Our data establish proof of principle that the nuclear matrix is crucial for normal skeletal muscle structure and function and put VCPDM on the growing list of monogenic disorders associated with the nuclear proteome...
- [Novel splice-site mutation in the pre-mRNA splicing gene PRPF31 in a Chinese family with autosomal dominant retinitis pigmentosa]Sha Sha Lu
Tianjin Medical University, Tianjin 300074, China
Zhonghua Yan Ke Za Zhi 41:305-11. 2005..To identify mutations in a four-generation Chinese family with retinitis pigmentosa and to investigate its clinical phenotype...
- Dominant-negative retinoic acid receptors elicit epidermal defects through a non-canonical pathwayChang Feng Chen
Division of Experimental Medicine, Department of Medicine, McGill University, Montreal K1H 8M5, Canada
J Biol Chem 280:3012-21. 2005..These findings suggest that dnRARs may impact on epidermal development through one or more non-canonical pathways, which are independent of receptor-DNA interaction...
- Breakpoint characterization of a novel approximately 59 kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetranceLinda Kohn
Department of Medical Biosciences Medical and Clinical Genetics, University of Umea, Umea, Sweden
Eur J Hum Genet 17:651-5. 2009..Identification of the deletion breakpoints allowed development of a simple tool for molecular testing of this genetic subtype of adRP...
- Modifier controls severity of a novel dominant low-frequency MyosinVIIA (MYO7A) auditory mutationV A Street
J Med Genet 41:e62. 2004
- Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosaT Jeffrey Keen
Molecular Medicine Unit, University of Leeds, UK
Eur J Hum Genet 10:245-9. 2002..A second missense mutation, D170G, was found in a single RP patient. The putative RP9 gene appears to be expressed in a wide range of tissues, but its function is unknown and a pathogenic mechanism remains to be determined...
- Syntaxin-6 SNARE involvement in secretory and endocytic pathways of cultured pancreatic beta-cellsRegina Kuliawat
Division of Endocrinology and Department of Developmental Molecular Biology, Albert Einstein College of Medicine, Bronx, New York 10461, USA
Mol Biol Cell 15:1690-701. 2004....
- Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR geneJ M Rozet
J Med Genet 39:284-5. 2002
- Novel deletion in the pre-mRNA splicing gene PRPF31 causes autosomal dominant retinitis pigmentosa in a large Chinese familyLejin Wang
Center for Molecular Genetics, Department of Molecular Cardiology, Lerner Research Institute, Cleveland, Ohio, USA
Am J Med Genet A 121:235-9. 2003..4 (RP11), the 12 bp PRPF31 deletion identified in this study appears to show high penetrance. These data expand the spectrum of PRPF31 mutations causing adRP, and confirm the role of PRPF31 in the pathogenesis of RP...
- Mutations in the Wolfram syndrome type 1 gene (WFS1) define a clinical entity of dominant low-frequency sensorineural hearing lossMarci M Lesperance
Division of Pediatric Otolaryngology, Department of Otolaryngology Head and Neck Surgery, University of Michigan, Ann Arbor 48109 0241, USA
Arch Otolaryngol Head Neck Surg 129:411-20. 2003..To describe low-frequency sensorineural hearing loss (LFSNHL) inherited as a dominant trait in 3 families and in 1 sporadic case...
- A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataractsXu Ma
Graduate School, Peking Union Medical College, Beijing, China
Mol Vis 14:1906-11. 2008..We sought to identify the genetic defect in a four-generation Chinese family with autosomal dominant congenital lamellar cataracts and demonstrate the functional analysis with biosoftware of a candidate gene in the family...
- Dominant retinitis pigmentosa phenotype associated with a new mutation in the splicing factor PRPF31S Ghazawy
Br J Ophthalmol 91:1411-3. 2007
- A large deletion in the adRP gene PRPF31: evidence that haploinsufficiency is the cause of diseaseLeen Abu-Safieh
Institute of Ophthalmology, University College London, London, UK
Mol Vis 12:384-8. 2006..To report a large deletion that encompasses more than 90% of PRPF31 gene and two other neighboring genes in their entirety in an adRP pedigree that appears to show only the typical clinical features of retinitis pigmentosa...
- Heterozygosity probabilities for normal relatives of isolated cases affected by incompletely penetrant conditions and the calculation of recurrence risks for their offspring. I. Autosomal dominant genesP A Otto
Departamento de Biologia, Instituto de Biociencias, Universidade de Sao Paulo, Sao Paulo, Brazil
Am J Med Genet 95:43-8. 2000..Heterozygosity probabilities P(het) for relatives of isolated cases produced by incompletely penetrant autosomal dominant genes and recurrence risks for their offspring, R = P(het)...
- A tumor necrosis factor-alpha-mediated pathway promoting autosomal dominant polycystic kidney diseaseXiaogang Li
Stowers Institute for Medical Research, 1000 East 50th Street, Kansas City, Missouri 64110, USA
Nat Med 14:863-8. 2008..These data reveal a pathway connecting TNF-alpha signaling, polycystins and cystogenesis, the activation of which may reduce functional polycystin-2 below a critical threshold, precipitating the ADPKD cellular phenotype...
- Transcriptional expression of cis-acting and trans-acting splicing mutations cause autosomal dominant retinitis pigmentosaMaría José Gamundi
Servicio de Laboratorio, Departamento de Genetica y Biologia Molecular, Hospital de Terrassa, Terrassa, Barcelona, Spain
Hum Mutat 29:869-78. 2008..Microarray analysis revealed a panel of differentially expressed genes mapped to the RP loci, and future work will determine their role in RP...
- 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...
- Novel HSF4 mutation causes congenital total white cataract in a Chinese familyTie Ke
Center for Human Genome Research and College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei, P R China
Am J Ophthalmol 142:298-303. 2006..To identify the disease-causing gene (mutation) in a Chinese family affected with autosomal dominant congenital total white cataract...
- Renal manifestations of a mutation in the uromodulin (Tamm Horsfall protein) geneAnthony J Bleyer
Section on Nephrology, Wake Forest University School of Medicine, Winston Salem, NC 27157, USA
Am J Kidney Dis 42:E20-6. 2003..This case report describes another family with similar clinical manifestations...
- Non-syndromic autosomal-dominant deafnessM B Petersen
Department of Genetics, Institute of Child Health, Aghia Sophia Children s Hospital, GR 11527 Athens, Greece
Clin Genet 62:1-13. 2002..Autosomal-dominant genes are responsible for about 20% of the cases of hereditary non-syndromic deafness, with 16 different genes ..
- Autosomal dominant central areolar choroidal dystrophy and a novel Arg195Leu mutation in the peripherin/RDS geneSatsuki Yanagihashi
Department of Ophthalmology, Hirosaki University School of Medicine, Hirosaki, Japan
Arch Ophthalmol 121:1458-61. 2003
- A nonsense mutation in CRYGC associated with autosomal dominant congenital nuclear cataract in a Chinese familyKe Yao
Eye Center of the 2nd Affiliated Hospital, Medical College of Zhejiang University, Hangzhou, China
Mol Vis 14:1272-6. 2008..To identify the genetic defect associated with autosomal dominant congenital nuclear cataract in a Chinese family...
- Newly identified prion linked to the chromatin-remodeling factor Swi1 in Saccharomyces cerevisiaeZhiqiang Du
Department of Molecular Pharmacology and Biological Chemistry, The Feinberg School of Medicine, Northwestern University, Searle 5 474, 320 East Superior Street, Chicago, Illinois 60611, USA
Nat Genet 40:460-5. 2008..Moreover, we show [SWI+] is dominantly and cytoplasmically transmitted. Our findings reveal a novel mechanism of 'protein-only' inheritance that results in modification of chromatin-remodeling and, ultimately, global gene regulation...
- Genetic identification of Mom-1, a major modifier locus affecting Min-induced intestinal neoplasia in the mouseW F Dietrich
Whitehead Institute for Biomedical Research, Massachusetts Institute of Technology, Cambridge 02142
Cell 75:631-9. 1993..These results provide evidence of a major modifier affecting expression of an inherited cancer syndrome...
- Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosaChristina F Chakarova
Department of Molecular Genetics, Institute of Ophthalmology, University College London, 11 43 Bath Street, London EC1V 9EV, UK
Hum Mol Genet 11:87-92. 2002..The identification of mutations in a third pre-mRNA splicing factor gene further highlights a novel mechanism of photoreceptor degeneration due to defects in the splicing process...
- Familial benign hypocalciuric hypercalcemiaGhada El Hajj Fuleihan
Calcium Metabolism and Osteoporosis Program, American University of Beirut Medical Center, Lebanon
J Bone Miner Res 17:N51-6. 2002..In general, in view of the benign nature of FBHH, no particular intervention is needed except reassurance and counseling against parathyroidectomy...
- Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegiaEleonora 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....
- Linkage of tuberculosis to chromosome 2q35 loci, including NRAMP1, in a large aboriginal Canadian familyC M Greenwood
Department of Human Genetics, McGill University, Montreal, Quebec, Canada
Am J Hum Genet 67:405-16. 2000..The ability to assign individuals to risk classes was crucial to the success of this study...
- A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetranceThomas Rio Frio
Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland
Hum Mutat 30:1340-7. 2009..We discuss the potential of UHT sequencing technologies in mutation screening and the continued identification of pathogenic splicing mutations buried deep within intronic regions...
- Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosaK Kajiwara
Howe Laboratory of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston 02114
Nature 354:480-3. 1991..Our results indicate that some cases of autosomal dominant retinitis pigmentosa are due to mutations at the RDS locus...
- Alteration of a single amino acid residue in retinoic acid receptor causes dominant-negative phenotypeM Saitou
Department of Pharmacology, Kyoto University Faculty of Medicine, Japan
J Biol Chem 269:19101-7. 1994..The dominant-negative RAR will serve as a molecular tool to elucidate physiological roles of RAR by blocking RAR-mediated signaling pathways...
- Expression of PRPF31 mRNA in patients with autosomal dominant retinitis pigmentosa: a molecular clue for incomplete penetrance?Eranga N Vithana
Division of Molecular Genetics, Institute of Ophthalmology, University College London, London, UK
Invest Ophthalmol Vis Sci 44:4204-9. 2003..4 (RP11) with mutations in the PRPF31 gene is due to differentially expressed wild-type alleles in symptomatic and asymptomatic individuals...
- A missense mutation in the gammaD-crystallin gene CRYGD associated with autosomal dominant congenital cataract in a Chinese familyFeng Gu
Department of Genetics, National Research Institute for Family Planning, Beijing, China
Mol Vis 12:26-31. 2006..To identify the genetic defect in autosomal dominant congenital cataracts in a six generation Chinese family...
- Dominant lethality and insect population controlLuke Alphey
Department of Zoology, University of Oxford, South Parks Road, Oxford OX1 3PS, UK
Mol Biochem Parasitol 121:173-8. 2002..We consider alternative strategies based on the use of conditional dominant lethals that are not always active in the environment...
- The genetic architecture of response to long-term artificial selection for oil concentration in the maize kernelCathy C Laurie
Monsanto Company, St Louis, Missouri 63167, USA
Genetics 168:2141-55. 2004..The large number of QTL detected accounts for the smooth and sustained response to selection throughout the twentieth century...
- Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 alleleT L McGee
Ocular Molecular Genetics Institute, Massachusetts Eye and Ear Infirmary, Boston, MA, USA
Am J Hum Genet 61:1059-66. 1997..The results support the hypothesis that wild-type alleles at the RP11 locus or at a closely linked locus inherited from the noncarrier parents are a major factor influencing the penetrance of pathogenic alleles at this locus...
- Neuron-specific expression of mutant superoxide dismutase 1 in transgenic mice does not lead to motor impairmentA Pramatarova
Centre for Research in Neuroscience, McGill University, and the Montreal General Hospital Research Institute, Montreal, Quebec, H3G 1A4, Canada
J Neurosci 21:3369-74. 2001..5 years of age. Our animal model suggests that neuron-specific expression of ALS-associated mutant human SOD1 may not be sufficient for the development of the disease in mice...
- Drosophila RhoA regulates the cytoskeleton and cell-cell adhesion in the developing epidermisJames W Bloor
Developmental, Cell and Molecular Biology Group, Department of Biology, B330 LSRC Building, Duke University, Durham, NC 27708 1000, USA
Development 129:3173-83. 2002..At the leading edge, cells show altered adhesive properties such that they form ectopic contacts with other DRhoA(N19)-expressing cells...
- Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier geneAndrea L Vincent
Department of Ophthalmology, The Hospital for Sick Children, University of Toronto, Toronto, Canada
Am J Hum Genet 70:448-60. 2002..We also propose that CYP1B1 may act as a modifier of MYOC expression and that these two genes may interact through a common pathway...
- Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosaT P Dryja
Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston 02114, USA
Invest Ophthalmol Vis Sci 38:1972-82. 1997..To measure the proportion of cases of retinitis pigmentosa (RP) caused by mutations in the peripherin/RDS (RDS) and ROM1 genes...
- A novel locus (RP33) for autosomal dominant retinitis pigmentosa mapping to chromosomal region 2cen-q12.1Chen Zhao
Department of Molecular Medicine and Surgery, Karolinska University Hospital Solna, CMM L8 01, 171 76, Stockholm, Sweden
Hum Genet 119:617-23. 2006..In conclusion, a novel locus for adRP has been assigned to chromosomal region 2cen-q12.1, which in the present kindred was associated with a relatively late onset form of the disease...
- Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian familiesC Ziviello
Telethon Institute of Genetics and Medicine TIGEM, Naples, Italy
J Med Genet 42:e47. 2005..As causative mutations were not found in over 70% of the families analysed, this study suggests the presence of further novel genes or sequence elements involved in the pathogenesis of ADRP...
- Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 lociK Kajiwara
Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston 02114
Science 264:1604-8. 1994..Recognition of the inheritance pattern exemplified by these three families might facilitate the identification of other examples of digenic inheritance in human disease...
- Mapping multiple QTL using linkage disequilibrium and linkage analysis information and multitrait dataTheo H E Meuwissen
Centre for Integrative Genetics CIGENE, Institute of Animal Science, Agricultural University of Norway, Box 5025, As, Norway
Genet Sel Evol 36:261-79. 2004..However, no indications for a second QTL affecting dairy traits were found on chromosome 14...
- Three novel RDS-peripherin mutations (689delT, 857del17, G208D) in Spanish families affected with autosomal dominant retinal degenerations. Mutations in brief no. 147. OnlineM J Trujillo
Department of Ophthalmology, Fundación Jiménez Dáz, Avenida de los Reyes Católicos No 2, 28040 Madrid, Spain
Hum Mutat 12:70. 1998....
- Exploring the etiology of haploinsufficiencyReiner A Veitia
UFR de Biologie et Sciences de la Nature, Universite Denis Diderot, Paris VII Immunogeénétique Humaine, Institut Pasteur, 25 rue du Dr Roux, 75724 Paris, France
Bioessays 24:175-84. 2002..This article is certainly another preliminary exploration of the complex matters of HI, which remain an intellectual challenge from many points of view...
- A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetranceK P Burdon
Menzies Centre for Population Health Research, University of Tasmania, Hobart, Australia
J Med Genet 41:e106. 2004
- A novel mutation in major intrinsic protein of the lens gene (MIP) underlies autosomal dominant cataract in a Chinese familyFeng Gu
Department of Genetics, National Research Institute for Family Planning and Peking Union Medical College, Beijing, China
Mol Vis 13:1651-6. 2007..To identify the causitive mutation in a five-generation family with autosomal dominant congenital total cataract...
- Respiratory epithelial cells regulate lung inflammation in response to inhaled endotoxinShawn J Skerrett
Department of Medicine, University of Washington School of Medicine, Seattle, 98104, USA
Am J Physiol Lung Cell Mol Physiol 287:L143-52. 2004..These data provide causal evidence that distal airway epithelial cells and the signals they transduce play a physiological role in lung inflammation in vivo...
- A deletion mutation in the betaA1/A3 crystallin gene ( CRYBA1/A3) is associated with autosomal dominant congenital nuclear cataract in a Chinese familyYanhua Qi
Department of Ophthalmology, The Second Affiliated Hospital, Haerbin Medical University, Haerbin, 150086 Heilongjiang, P R China
Hum Genet 114:192-7. 2004..It highlights the physiological importance of crystallin and supports the role of CRYBA1/A3 in human cataracts formation...
- Autosomal dominant restless legs syndrome maps on chromosome 14qMaria Teresa Bonati
Human Molecular Genetics Unit, Department of Neuroscience, DIBIT San Raffaele Scientific Institute, Milan, Italy
Brain 126:1485-92. 2003..The complementary clinical and genetic studies on multiplex families are likely to be of the utmost importance in unfolding the complete expressivity of RLS phenotype spectrum...
- A missense mutation in the gammaD crystallin gene (CRYGD) associated with autosomal dominant "coral-like" cataract linked to chromosome 2qDonna S Mackay
Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, MO 63110, USA
Mol Vis 10:155-62. 2004..The purpose of this study was to map and identify the mutation underlying an autosomal dominant form of coral-shaped cataract segregating in a three generation Caucasian pedigree...
- Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13)A B McKie
Molecular Medicine Unit, University of Leeds, Clinical Sciences Building, St James University Hospital, Leeds LS9 7TF, UK
Hum Mol Genet 10:1555-62. 2001..These mutations in this ubiquitous and highly conserved splicing factor offer compelling evidence for a novel pathway to retinal degeneration...
- X-LINKED HYPOPHOSPHATEMIA: IGF-1 INHIBITORSRalph Meyer; Fiscal Year: 1990X-linked hypophosphatemia (vitamin D-resistant rickets) is caused by mutant dominant genes on the X chromosome of humans (HYP; HPDR) and mice (Hyp)...
- Attenuation of Brucella Using Dominant Repair MutantsDON ENNIS; Fiscal Year: 2004..We are proposing to improve TAISR by developing more effective dominant genes as well as use mutant combinations to inactivate repair in B. abortus...
- ISOLATION OF GENES CAUSING PROGRESSIVE DEAFNESSShelley Smith; Fiscal Year: 1999..At lest 3 autosomal dominant genes have been localized, but none have been identified and cloned, and since they have been found in only a few ..
- STRUCTURAL STUDIES OF IA ALLOANTIGENSJack Silver; Fiscal Year: 1980..of individuals and inbred strains to a wide variety of synthetic and natural antigens is controlled by dominant genes that map within the I region of the MHC, and have been termed histocompatibility or H-linked Ir genes...
- GENETIC EPIDEMIOLOGY OF SEIZURE DISORDERS IN ROCHESTERRuth Ottman; Fiscal Year: 2006..abstract_text> ..
- GENETICS OF AD PARTIAL EPILEPSY WITH AUDITORY FEATURESRuth Ottman; Fiscal Year: 2007..abstract_text> ..
- CLONING/CHARACTERIZATING A MYOTONIC DYSTROPHY LOCUSLAURA RANUM; Fiscal Year: 2004..abstract_text> ..
- GENETIC EPIDEMIOLOGY OF FAMILIAL EPILEPSYRuth Ottman; Fiscal Year: 2001..g., generalized epilepsy, localization-related epilepsy). ..
- Identifying the RP10 gene causing retinitis pigmentosaStephen Daiger; Fiscal Year: 2004..abstract_text> ..
- Conference on Unstable Microsatellites & Human DiseaseLAURA RANUM; Fiscal Year: 2007..null ..
- DM2: Murine and cell Culture Models of CCUG RNA toxicityLAURA RANUM; Fiscal Year: 2007..3) To develop a cell culture model to evaluate the molecular effects of CCUG length on the formation of RNA foci, cellular differentiation and downstream molecular changes in alternative splicing. ..
- 6th International Conference on Unstable Microsatellites and Human DiseaseLAURA RANUM; Fiscal Year: 2008..unreadable] [unreadable] [unreadable]..
- PRESENILIN DOMAINS AND RECONSTITUTION OF CATALYSISSamuel Gandy; Fiscal Year: 2007..This investigation will permit the identification of the minimal functional unit for gamma-secretase activity and potentially support the notion that PS1 is indeed the catalytic component of the gamma-secretase complex. ..
- Chemokines, nitric oxide, and myocardial depressionBysani Chandrasekar; Fiscal Year: 2005..The results from these studies will further our knowledge of chemokine biology and lead to new therapeutic strategies to prevent or treat myocardial dysfunction in ischemia-reperfusion injury. ..
- International Conference on Episodic Ataxia SyndromesJoanna Jen; Fiscal Year: 2005..abstract_text> ..
- THE GENETIC & FUNCTIONAL ANATOMICAL BASIS OF HGPPSJoanna Jen; Fiscal Year: 2009..Understanding the anatomical and molecular basis of HGPPS will provide insight into the genetically programmed neurodevelopment of the conjugate horizontal gaze center and other cranial nuclei in the brainstem. ..
- MUTATIONS IN CALCIUM CHANNELS CAUSING VERTIGO AND ATAXIAJoanna Jen; Fiscal Year: 2002..The further relevance of this work to the more common basilar migraine and Meniere's syndrome is emphasized by the overlapping symptoms of vertigo and ataxia in the group of patients that we propose to study. ..
- TRANSMITTER NEUROANATOMY IN ALZHEIMERS DISEASESamuel Gandy; Fiscal Year: 2002....
- Pathobiology of Retinal Vasculopathy with Cerebal Leukodystrophy (RVCL)Joanna C Jen; Fiscal Year: 2010..abstract_text> ..
- BABAA RECEPTORS IN AGING & ALZHEIMER'S DISEASESamuel Gandy; Fiscal Year: 2002....
- Genetics of Familial Episodic AtaxiaJoanna C Jen; Fiscal Year: 2010..Insights gained from the study will lead to improved diagnosis and treatment of familial episodic ataxia and the more common episodic vertigo syndromes. ..
- Genetic and anatomic basis of the fibrosis syndromesElizabeth C Engle; Fiscal Year: 2011..Aim 3: Define the cellular consequences of the R954W amino acid substitution on the developing and mature ocular motor axis in mice. Aim 4: Identify KIF21A protein binding partners. ..
- Self-limiting, and Dominant-negative Herpes Simplex Virus RecombinantsFeng Yao; Fiscal Year: 2007..Specific Aim 4 will focus on investigating the influence of de novo expression of B7-1 and B7-2 by HSV-1 replication-defective vaccine virus on the augmentation of host immunity against HSV infection. [unreadable] [unreadable]..
- Ras/Raf & PI3K/Akt Induced Breast Cancer Drug ResistanceJAMES MC CUBREY; Fiscal Year: 2007..Throughthese studies,moreinformationwillbe availableto treatbreast andothercancerpatientswithcombinationsof drugs,whichinhibitsignaltransductionand anti-apoptoticpathwaysleadingtodrug resistance. ..
- Ubc9 as a novel target for cancer therapyYin Yuan Mo; Fiscal Year: 2006..As a result, we will be able to develop valuable Ubc9-based anticancer agents [unreadable] [unreadable]..
- PI-3 kinase effectors in insulin-responsive systemsSilvia Corvera; Fiscal Year: 2010..4) Define the mechanism of action of WDFY2 by identifying proteins that specifically interact with its WD-40 motifs using proteomic and 2-hybrid approaches. ..
- GANGLIOSIDE GENE MODULATION EFFECT ON CELL MOTILITYAmy Paller; Fiscal Year: 2007..These studies will provide information about the role of gangliosides in caveolin-1 mediated signaling and may lead to novel therapies for patients with abnormal healing responses. ..
- HEARING DEFICIT DUE TO AUDITORY NEUROPATHYArnold Starr; Fiscal Year: 2009..The results of our studies could have major impact on the diagnosis, classification, understanding, and treatment of auditory neuropathy. ..
- Regulation of SMAD4 and BMPR1A Expression in Juvenile PolyposisJames R Howe; Fiscal Year: 2010..abstract_text> ..
- Cleft Lip Genetics: A Multi Center International ConsortiumAndrew Lidral; Fiscal Year: 2009..Through the use of complimentary mouse and human genetics this project will identify genes and pathways essential for normal facial development, such that preventive strategies for CL/P can be developed. ..
- Cystin, a lipid raft and cilia-associated protein in PKDLisa Guay Woodford; Fiscal Year: 2008..unreadable] [unreadable] [unreadable] [unreadable]..
- REDOX ACTIVITY OF THE PULMONARY ENDOTHELIAL SURFACEMARILYN MERKER; Fiscal Year: 2008....
- Renal medullary COX-2 in blood pressure controlTianxin Yang; Fiscal Year: 2008..The information resulted from these studies will provide new insight into the molecular mechanism responsible for long-term control of arterial blood pressure. ..
- LINKAGE STUDY OF JUVENILE GLAUCOMAJaney 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. ..
- Redox Signaling in Osteoblast DifferentiationNandini Ghosh Choudhury; Fiscal Year: 2009..Understanding the signal transduction pathways of osteoblast differentiation may result in the development of therapeutic modalities for the human diseases where lack of bone formation is the pathology. ..
- International Symposium for Hereditary Spastic ParaplegiaJohn Fink; Fiscal Year: 2007..unreadable] [unreadable] [unreadable]..
- HIV-1 gp120-mediated injury in brain endotheliumShalom Avraham; Fiscal Year: 2009..These studies should provide insights into preventive and/or therapeutic strategies to sustain BBB integrity in HIV-infected patients, and thereby contribute to limiting CNS pathology. ..
- Molecular networks: programming normal renal development and modeling disease patLisa 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]..
- Gene Discovery for Cerebral Cavernous MalformationsDouglas Marchuk; Fiscal Year: 2006..abstract_text> ..
- Genetic Determinants of Vesicoureteral RefluxAli Gharavi; Fiscal Year: 2007..Identification of genes underlying VUR will provide novel approaches to detect patients at risk and may enable the development of novel therapeutic approaches for this disorder [unreadable] [unreadable]..
- ACTIVITIES OF BETA CATENIN AND LEF/TCF COMPLEXESMarian Waterman; Fiscal Year: 2004..Aim 3 describes experiments to assess the role of LEF/TCF DNA binding domain in the recruitment of beta catenin and, paradoxically, an antagonizing nuclear co-activator to promoters. ..
- Massage Therapy for Breast Cancer-related LymphedemaMichael Bernas; Fiscal Year: 2003..abstract_text> ..
- HEREDITARY DEFECTS IN HUMAN CHLORIDE CHANNELSALFRED GEORGE; Fiscal Year: 2001..In addition, the applicant proposes to delineate the transmembrane topology of the CIC channel using a glycosylation tagging method that has previously been employed to generate a topological model of AMPA-type glutamate receptors. ..
- BRAIN STRUCTURE/FUNCTION IN OROFACIAL CLEFTING DISORDERSPeggy Nopoulos; Fiscal Year: 2003..This award will also provide the candidate with the background necessary for ongoing research and funding leading to an independent research career. ..
- Cardiomyocyte Signaling Through Focal AdhesionMARIA HEIDKAMP; Fiscal Year: 2003..Their effects on FAF and SA will be investigated. A better understanding of the signaling pathways which contribute to cardiac hypertrophy would enable novel, therapeutic agents of disease prevention to be discovered. ..
- CHRONOBIOLOGY OF PARTIAL EPILEPSYMark Quigg; Fiscal Year: 2002..In summary, these studies will provide insight into the chronoblological factors that facilitate partial seizure expression and may provide new perspectives into treatments for poorly controlled partial epilepsy. ..
- HIV/SIV ENVELOPE GLYCOPROTEIN EFFECTS ON ENDOTHELIAChangyi Chen; Fiscal Year: 2002....
- STRUCTURE AND REGULATION OF RETINAL CGMP PDE ALPHA GENESTEVEN PITTLER; Fiscal Year: 2002..Ultimately, experiments will be carried out to examine the functional consequences of PDE6 mutations that have been linked to human RP. ..
- ANTI-GLOMERULAR BASEMENT MEMBRANE DISEASERaghu Kalluri; Fiscal Year: 2001..Successful completion of this project should provide new experimental information regarding the processes that govern the pathogenesis of human anti-GBM disease. ..
- GENETIC STUDIES OF MINERALOCORTICOID FUNCTIONDavid Geller; Fiscal Year: 2004....
- Identify Waardenburg syndrome type 2 loci in manJEFFREY MILUNSKY; Fiscal Year: 2005..We will perform a high-density genome scan coupled with linkage disequilibrium analyses on 3 large multigenerational families and multiple smaller families with WS2 to identify candidate gene(s) with mutations causing WS2. ..
- Mechanisms/GHB/models/acute/chronic GBH intoxication.Istvan Mody; Fiscal Year: 2005..abstract_text> ..
- Outcomes of Genetic Testing for Hearing ImpairmentIan Krantz; Fiscal Year: 2005..abstract_text> ..
- ADULT NIGRO-STRIATAL RESPONSE TO FETAL TOXIN EXPOSUREH Son; Fiscal Year: 2005....
- International Meeting--Epithelial /Mesenchymal TranitionRaghu Kalluri; Fiscal Year: 2005..abstract_text> ..
- GENETICS OF HEREDITARY HEMORRHAGIC TELANGIECTASIADouglas Marchuk; Fiscal Year: 2004....
- Ciprofloxacin resistance and compensatory Mutations.Julian Adams; Fiscal Year: 2004..Knowledge of the biochemical and physiological basis of compensatory mutations may allow the design of strategies to reduce or counteract their role in increasing the prevalence of antibiotic resistant mutations. ..
- Mammographic Density as a Predictor of Breast CancerBETTY MINCEY; Fiscal Year: 2005..abstract_text> ..
- MAPK/PKR Modulation of Diaphragm WeaknessGerald S Supinski; Fiscal Year: 2010..We will both characterize the effects of inflammation on DISC formation, localization, and autocatalytic activity and determine if these alterations can be blocked by inhibition of p38, JNK, and/or PKR signaling pathways. ..
- CORTICOSTEROID INDUCED APOPTOSIS IN AIRWAY EPITHELIUMSteven White; Fiscal Year: 2002..These data would help lead to new therapeutic ideas and modalities in the treatment of asthma to suppress inflammation while preventing mucosal damage. ..
- Analysis of Ethnic Admixture in Lung CancerJill Barnholtz Sloan; Fiscal Year: 2006..These projects will give me experience in developing methodology in statistical genetics and genetic epidemiology, while also helping me to better understand etiology of disease. ..
- DIAPHRAGMATIC DYSFUNCTION IN SEPSISGERALD SUPINSKI; Fiscal Year: 2001..These data suggest that the proposed experiments should provide important information regarding the pathogenesis of sepsis-induced muscle dysfunction. ..
- Caspase Mediated Diaphragmatic DysfunctionGERALD SUPINSKI; Fiscal Year: 2009..These experiments will use both transgenic animal models and C2C12 cells to assess the effect of genetic and chemical inhibition of superoxide/nitric oxide on caspase responses. ..
- FREE RADICALS AND MUSCLE DYSFUNCTION IN HEART FAILUREGERALD SUPINSKI; Fiscal Year: 2005..These data suggest that the proposed experiments should provide important information regarding the pathogenesis of heart failure-related skeletal muscle dysfunction. ..
- Regulation of airway epithelial repairSteven R White; Fiscal Year: 2010....
- Cytochrome Oxidase Polymorphisms in AgingRussell Swerdlow; Fiscal Year: 2007..This work could help explain why complex genetic diseases are sometimes associated with mitochondrial dysfunction. ..
- Renal NO synthase & blood pressureJeffrey Garvin; Fiscal Year: 2008..unreadable] [unreadable] [unreadable]..
- Genetic Linkage & Candidate Gene Analysis in Two PedigreVALERIE STREET; Fiscal Year: 2003..Characterization of these normal and mutated gene products will contribute further to an understanding of the intricate workings of the auditory system. ..
- Urinary Podocyte Excretion Using FACS MethodologyKevin Lemley; Fiscal Year: 2003..e. is podocyturia an earlier biomarker of incipient nephropathy? and 2) do the responses of albuminuria and podocyturia to treatment with angiotensin-converting enzyme inhibitors differ? ..
- Genetics of Progressive Sensorineural Hearing LossVALERIE STREET; Fiscal Year: 2008..A molecular genetic and animal model approach as described in this grant proposal is one path to follow towards accomplishing this task. ..