A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26) - Wikidata - awgldk - TriplyDB

A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26)

A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26)

http://www.wikidata.org/entity/Q28235113

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Multiphasic analysis of whole exome sequencing data identifies a novel mutation of ACTG1 in a nonsyndromic hearing loss family ALKBH4-dependent demethylation of actin regulates actomyosin dynamics.Rotavirus spike protein VP4 binds to and remodels actin bundles of the epithelial brush border into actin bodies.A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia Dynamic length regulation of sensory stereocilia Allele-specific effects of human deafness gamma-actin mutations (DFNA20/26) on the actin/cofilin interaction A method for rapidly screening functionality of actin mutants and tagged actins Genetics of Nonsyndromic Congenital Hearing Loss Phenotypic Heterogeneity in a DFNA20/26 family segregating a novel ACTG1 mutation.Evidence for changes in beta- and gamma-actin proportions during inner ear hair cell life Structure of the F-actin-tropomyosin complex Finding new genes for non-syndromic hearing loss through an in silico prioritization study Genetics of auditory mechano-electrical transduction.Actin in hair cells and hearing loss.A locus on distal chromosome 11 (ahl8) and its interaction with Cdh23 ahl underlie the early onset, age-related hearing loss of DBA/2J mice Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39.Gamma-actin is required for cytoskeletal maintenance but not development In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment.A 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.Deafness mutation mining using regular expression based pattern matching.Proteomic identification of tumor biomarkers associated with primary gallbladder cancer.ACT-5 is an essential Caenorhabditis elegans actin required for intestinal microvilli formation Delayed embryonic development and impaired cell growth and survival in Actg1 null mice.Distinct functional interactions between actin isoforms and nonsarcomeric myosins Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).Inhibition of type I insulin-like growth factor receptor tyrosine kinase by picropodophyllin induces apoptosis and cell cycle arrest in T lymphoblastic leukemia/lymphoma.Genetic insights into the morphogenesis of inner ear hair cells.Pathological situations characterized by altered actin isoform expression.Rapid nucleotide exchange renders Asp-11 mutant actins resistant to depolymerizing activity of cofilin, leading to dominant toxicity in vivo Conformational dynamics of actin: effectors and implications for biological function.Non-syndromic hereditary sensorineural hearing loss: review of the genes involved.Insights into the effects of disease-causing mutations in human actins.New treatment options for hearing loss.Baraitser-Winter cerebrofrontofacial syndrome.Synthetic lethal hubs associated with vincristine resistant neuroblastoma.A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment.Audiometric and vestibular features in a second Dutch DFNA20/26 family with a novel mutation in ACTG1.Functional characterization of the human α-cardiac actin mutations Y166C and M305L involved in hypertrophic cardiomyopathy.Mammalian Actins: Isoform-Specific Functions and Diseases.

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A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26)

http://www.wikidata.org/entity/Q28235113

description

2003 nî lūn-bûn

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2003 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2003 թվականի դեկտեմբերին հրատարակված գիտական հոդված

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2003年の論文

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2003年論文

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2003年論文

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2003年論文

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2003年論文

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2003年論文

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2003年论文

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name

A mutation in the gamma actin ...... inant hearing loss (DFNA20/26)

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A mutation in the gamma actin ...... inant hearing loss (DFNA20/26)

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A mutation in the gamma actin ...... inant hearing loss (DFNA20/26)

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type

label

A mutation in the gamma actin ...... inant hearing loss (DFNA20/26)

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A mutation in the gamma actin ...... inant hearing loss (DFNA20/26)

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A mutation in the gamma actin ...... inant hearing loss (DFNA20/26)

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A mutation in the gamma actin ...... inant hearing loss (DFNA20/26)

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A mutation in the gamma actin ...... inant hearing loss (DFNA20/26)

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A mutation in the gamma actin ...... inant hearing loss (DFNA20/26)

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Journal of Medical Genetics

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A mutation in the gamma actin ...... inant hearing loss (DFNA20/26)

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C W R J Cremers

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E Krieger

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E M R De Leenheer

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F P M Cremers

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P2860

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy

Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin

Actin mutations in dilated cardiomyopathy, a heritable form of heart failure

Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous

Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle.

Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9

MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss.

The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions.

Structure, chromosome location, and expression of the human gamma-actin gene: differential evolution, location, and expression of the cytoskeletal beta- and gamma-actin genes

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

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10.1136/JMG.40.12.879

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40

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