about
Common genetic variation and the control of HIV-1 in humansMeta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrationsA homeobox gene, vax2, controls the patterning of the eye dorsoventral axisFunctional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2AThe zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathwaysIdentification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy.A unique set of SH3-SH3 interactions controls IB1 homodimerization.Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1Genetic variants in novel pathways influence blood pressure and cardiovascular disease riskCommon variants near MC4R are associated with fat mass, weight and risk of obesityVariants in MTNR1B influence fasting glucose levels.Recommendations for locus-specific databases and their curationGenetic polymorphism in varietal identification and genetic improvementStructure, genetic localization, and identification of the cardiac and skeletal muscle transcripts of the human integrin alpha7 gene (ITGA7)Dysferlin is a plasma membrane protein and is expressed early in human developmentCalpain 3 cleaves filamin C and regulates its ability to interact with gamma- and delta-sarcoglycansMyotilin is not the causative gene for vocal cord and pharyngeal weakness with distal myopathy (VCPDM)AHI1, a pivotal neurodevelopmental gene, and C6orf217 are associated with susceptibility to schizophreniaLinkage analysis of families with severe childhood autosomal recessive muscular dystrophy in Morocco indicates genetic homogeneity of the disease in north AfricaThe gene for creatine kinase, mitochondrial 2 (sarcomeric; CKMT2), maps to chromosome 5q13.3Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11Expression of genes (CAPN3, SGCA, SGCB, and TTN) involved in progressive muscular dystrophies during early human developmentBeta-sarcoglycan: genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolateGenetic variation in IL28B is associated with chronic hepatitis C and treatment failure: a genome-wide association studyA gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2BCardiovascular response to beta-adrenergic blockade or activation in 23 inbred mouse strainsMapping genetic variants associated with beta-adrenergic responses in inbred miceSh3tc2 deficiency affects neuregulin-1/ErbB signalingGenome-wide association study of metabolic traits reveals novel gene-metabolite-disease linksSharing data between LSDBs and central repositoriesCommon variants associated with plasma triglycerides and risk for coronary artery diseaseDiscovery and refinement of loci associated with lipid levels.The Growing Importance of CNVs: New Insights for Detection and Clinical InterpretationGenome-wide Association Studies Identify Genetic Loci Associated With Albuminuria in Diabetes.CUBN is a gene locus for albuminuria.Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3A modular approach for integrative analysis of large-scale gene-expression and drug-response data.Cell-permeable peptides induce dose- and length-dependent cytotoxic effects.In vitro whole-genome analysis identifies a susceptibility locus for HIV-1.Association of ABCB1 genetic variants with renal function in Africans and in Caucasians.
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description
hulumtues
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researcher
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հետազոտող
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Jacques S Beckmann
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Jacques S Beckmann
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Jacques S. Beckmann
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Jacques S. Beckmann
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type
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Jacques S Beckmann
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Jacques S Beckmann
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Jacques S. Beckmann
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Jacques S. Beckmann
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Jacques S Beckmann
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Jacques S Beckmann
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Jacques S Beckmann
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Jacques S Beckmann
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Jacques S. Beckmann
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Jacques S. Beckmann
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P1153
55435651800
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P31
P496
0000-0002-9741-1900