Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss. - Wikidata - awgldk - TriplyDB

Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss.

Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss.

http://www.wikidata.org/entity/Q34398395

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Genetic association study identifies HSPB7 as a risk gene for idiopathic dilated cardiomyopathy A cardiac myosin light chain kinase regulates sarcomere assembly in the vertebrate heart.Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy Diversity, phylogeny and expression patterns of Pou and Six homeodomain transcription factors in hydrozoan jellyfish Craspedacusta sowerbyi Hadp1, a newly identified pleckstrin homology domain protein, is required for cardiac contractility in zebrafish Genetics of Human and Canine Dilated Cardiomyopathy Structure-function analyses of the human SIX1–EYA2 complex reveal insights into metastasis and BOR syndrome Transcriptional regulation of cranial sensory placode development Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy The EYA tyrosine phosphatase activity is pro-angiogenic and is inhibited by benzbromarone Sipl1 and Rbck1 are novel Eya1-binding proteins with a role in craniofacial development Eya4-deficient mice are a model for heritable otitis media.A Tbx1-Six1/Eya1-Fgf8 genetic pathway controls mammalian cardiovascular and craniofacial morphogenesis Hearing Profile in Patients with Dilated and Hypertrophic Cardiomyopathies.Exome Sequencing Identifies a Mutation in EYA4 as a Novel Cause of Autosomal Dominant Non-Syndromic Hearing Loss.Balancing cell numbers during organogenesis: Six1a differentially affects neurons and sensory hair cells in the inner ear.Headbobber: a combined morphogenetic and cochleosaccular mouse model to study 10qter deletions in human deafness.Function and expression pattern of nonsyndromic deafness genes Pleiotropic effects in Eya3 knockout mice.Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy.Six and Eya promote apoptosis through direct transcriptional activation of the proapoptotic BH3-only gene egl-1 in Caenorhabditis elegans.Molecular etiology of idiopathic cardiomyopathy.Cooperation between myogenic regulatory factors and SIX family transcription factors is important for myoblast differentiation Identification of I411K, a novel missense EYA4 mutation causing autosomal dominant non‑syndromic hearing loss Evolution of electrosensory ampullary organs: conservation of Eya4 expression during lateral line development in jawed vertebrates.Familial dilated cardiomyopathy: Current challenges and future directions Sizing up models of heart failure: Proteomics from flies to humans.Update 2011: clinical and genetic issues in familial dilated cardiomyopathy.Clinical and genetic issues in dilated cardiomyopathy: a review for genetics professionals Evaluation of the contribution of the EYA4 and GRHL2 genes in Korean patients with autosomal dominant non-syndromic hearing loss Eya2 is required to mediate the pro-metastatic functions of Six1 via the induction of TGF-β signaling, epithelial-mesenchymal transition, and cancer stem cell properties.Associations of genetic variations in EYA4, GRHL2 and DFNA5 with noise-induced hearing loss in Chinese population: a case- control study Zebrafish assays for drug toxicity screening.The Eyes Absent proteins in development and disease.A molecular analysis of neurogenic placode and cranial sensory ganglion development in the shark, Scyliorhinus canicula.Evolving molecular diagnostics for familial cardiomyopathies: at the heart of it all Functional characterization of a novel mutation in NKX2-5 associated with congenital heart disease and adult-onset cardiomyopathy.Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy.Zebrafish genetic models for arrhythmia.The zebrafish model system in cardiovascular research: A tiny fish with mighty prospects.

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P2860

Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss.

http://www.wikidata.org/entity/Q34398395

description

2005 nî lūn-bûn

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2005 թուականի Փետրուարին հրատարակուած գիտական յօդուած

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2005 թվականի փետրվարին հրատարակված գիտական հոդված

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2005年の論文

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Mutation in the transcriptiona ...... nd sensorineural hearing loss.

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Mutation in the transcriptiona ...... nd sensorineural hearing loss.

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Mutation in the transcriptiona ...... nd sensorineural hearing loss.

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Mutation in the transcriptiona ...... nd sensorineural hearing loss.

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Mutation in the transcriptiona ...... nd sensorineural hearing loss.

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Mutation in the transcriptiona ...... nd sensorineural hearing loss.

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Mutation in the transcriptiona ...... nd sensorineural hearing loss.

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Nature Genetics

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Calum A Macrae

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Christine E Seidman

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Frederic F S Depreux

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J G Seidman

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Jae B Kim

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Jordan T Shin

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Jost Schönberger

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Leonard Zon

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Libin Wang

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Sang Do Kim

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P2860

EYA4, a novel vertebrate gene related to Drosophila eyes absent

Cooperation of six and eya in activation of their target genes through nuclear translocation of Eya

Eya protein phosphatase activity regulates Six1-Dach-Eya transcriptional effects in mammalian organogenesis

Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus

Eyes absent represents a class of protein tyrosine phosphatases

Synergistic regulation of vertebrate muscle development by Dach2, Eya2, and Six1, homologs of genes required for Drosophila eye formation.

Dilated cardiomyopathy and sensorineural hearing loss: a heritable syndrome that maps to 6q23-24.

The eyes absent gene: genetic control of cell survival and differentiation in the developing Drosophila eye.

Mammalian homologues of the Drosophila eye specification genes.

Functional dissection of eyes absent reveals new modes of regulation within the retinal determination gene network.

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418-422

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10.1038/NG1527

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4

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37

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1019600299

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