Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).
about
Multiphasic analysis of whole exome sequencing data identifies a novel mutation of ACTG1 in a nonsyndromic hearing loss familyTargeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5' untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor domA mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystoniaReview series: The cell biology of hearingDynamic length regulation of sensory stereociliaAllele-specific effects of human deafness gamma-actin mutations (DFNA20/26) on the actin/cofilin interactionA method for rapidly screening functionality of actin mutants and tagged actinsGenetics of Nonsyndromic Congenital Hearing LossPhenotypic Heterogeneity in a DFNA20/26 family segregating a novel ACTG1 mutation.De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndromeA protein interaction network for the large conductance Ca(2+)-activated K(+) channel in the mouse cochlea.The R109H variant of fascin-2, a developmentally regulated actin crosslinker in hair-cell stereocilia, underlies early-onset hearing loss of DBA/2J miceFinding new genes for non-syndromic hearing loss through an in silico prioritization studyAn effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis.Genetics of auditory mechano-electrical transduction.Actin in hair cells and hearing loss.Function and expression pattern of nonsyndromic deafness genesA locus on distal chromosome 11 (ahl8) and its interaction with Cdh23 ahl underlie the early onset, age-related hearing loss of DBA/2J miceNoncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39.Gamma-actin is required for cytoskeletal maintenance but not developmentInheritance patterns of progressive hearing loss in laboratory strains of miceIn vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment.Ion-dependent polymerization differences between mammalian beta- and gamma-nonmuscle actin isoformsA comparative study of age-related hearing loss in wild type and insulin-like growth factor I deficient mice.β-actin and γ-actin are each dispensable for auditory hair cell development but required for Stereocilia maintenance.Proteomic identification of tumor biomarkers associated with primary gallbladder cancer.Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74Delayed embryonic development and impaired cell growth and survival in Actg1 null mice.Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42Mutations in the Drosophila orthologs of the F-actin capping protein alpha- and beta-subunits cause actin accumulation and subsequent retinal degeneration.Audioprofiling identifies TECTA and GJB2-related deafness segregating in a single extended pedigree.Allele-specific effects of thoracic aortic aneurysm and dissection alpha-smooth muscle actin mutations on actin functionDistinct functional interactions between actin isoforms and nonsarcomeric myosinsMutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).Novel autosomal recessive nonsyndromic hearing impairment locus DFNB90 maps to 7p22.1-p15.3.Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment.Clinical application of a custom AmpliSeq library and ion torrent PGM sequencing to comprehensive mutation screening for deafness genesA Novel Alpha Cardiac Actin (ACTC1) Mutation Mapping to a Domain in Close Contact with Myosin Heavy Chain Leads to a Variety of Congenital Heart Defects, Arrhythmia and Possibly Midline DefectsGenetic insights into the morphogenesis of inner ear hair cells.
P2860
Q21266678-F9EA52A7-79D9-4A7F-80D6-F202DC4897AAQ24300298-BA9A4061-981A-4596-B1A4-7FC86EED9E7FQ24531256-18565D65-90C1-43CF-BD72-A343FA9D36AFQ24546532-FF8A0DA4-7BD0-4CE4-9CF3-783383836624Q24601353-538581BB-E39D-438B-90B7-EE516C4228B5Q24646242-68CB48EC-5075-4E0E-B884-1F4507EBC9D4Q24650132-06FA1A9E-8D13-409C-A5B0-C7B54C0E3990Q24804053-773E11A6-8187-4801-B13C-527D6257052CQ26753842-803EAB8B-B651-48B4-A849-B01F0C26418EQ27317239-4977CB99-27D9-4D7B-AB00-139CD8229CE7Q28260677-B7E7A5E7-B429-4DD2-A6A5-44BA11B10559Q28509094-484A2264-52E3-419A-BA0E-807044DAEC6FQ28586440-521A658B-87C4-4E99-93E4-8DFCD0184CE6Q28749118-7E42966F-5209-43E0-A989-5DCD1EE6F719Q30385725-A2711F3D-BC8D-4FAF-8A0E-22689A05D380Q30421422-4ADA8C5C-D0E6-496F-A364-47CC87281531Q30454015-E9134FAC-0D68-4C3E-A20C-C261CECD66E5Q30482629-D267F701-A3AB-4149-84AE-693EB6BF0508Q30482720-8C7306AF-13E2-4AFD-976F-7CD6A15FAD79Q30484106-778B5980-52C7-4918-A301-3CBE5229EB98Q30488416-99680CE1-CA54-4946-AC6A-2508FA46691FQ30488782-BAA9A135-1CCB-4219-ACB0-BEAAB823D337Q30489007-E142F98F-8AD2-4AEE-AD95-45AC8E6945FFQ30494526-F76AD93A-E9CD-40C6-8A3B-583928EF625AQ30495585-3937BF5A-85C2-42BD-925F-94CB3979A610Q30990855-76CBD13E-905B-4E89-A123-69DC396C2B5BQ33594961-749D9AB4-1C67-4C56-BA50-7172743ABCE7Q34156544-C32DCC17-16D9-4DF9-BA45-0EB5E5DCDB32Q34338789-B8F16BFB-44DF-4ECA-BB80-2C5E0A3FB9E6Q34560844-1C18E753-3DDF-41AF-84BA-C9EED2066EDEQ34586909-91C366D2-6A12-45AB-9724-22F28986BBDAQ34657348-73EFBECB-E77D-4F8A-BDA0-AD1DF18A6AC5Q34719645-B25F567F-430C-4F64-A304-C19487E52023Q34907205-8D3B9403-BF2B-473D-A1D0-391616D60FE7Q34989619-A3EA5CB2-4E56-427A-AFCB-F5612B30193EQ35105506-91F43868-1750-44D0-A21A-2FFD8096500FQ35136932-E362C0FD-0409-43DF-BDBE-8F400749E273Q35376490-C351137C-B64A-4037-ACB1-B328E4CC32C6Q35659446-3EB1DA37-70D3-41C4-8EC4-0927E502BB66Q35813847-2CA988B9-7E72-400D-BAA4-DC46AFB6CA79
P2860
Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).
description
2003 nî lūn-bûn
@nan
2003 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年学术文章
@wuu
2003年学术文章
@zh-cn
2003年学术文章
@zh-hans
2003年学术文章
@zh-my
2003年学术文章
@zh-sg
2003年學術文章
@yue
name
Mutations in the gamma-actin g ...... gressive deafness (DFNA20/26).
@ast
Mutations in the gamma-actin g ...... gressive deafness (DFNA20/26).
@en
type
label
Mutations in the gamma-actin g ...... gressive deafness (DFNA20/26).
@ast
Mutations in the gamma-actin g ...... gressive deafness (DFNA20/26).
@en
prefLabel
Mutations in the gamma-actin g ...... gressive deafness (DFNA20/26).
@ast
Mutations in the gamma-actin g ...... gressive deafness (DFNA20/26).
@en
P2093
P2860
P50
P356
P1476
Mutations in the gamma-actin g ...... ogressive deafness (DFNA20/26)
@en
P2093
J L Elfenbein
K H Friderici
R A Fisher
P2860
P304
P356
10.1086/379286
P407
P577
2003-09-16T00:00:00Z