Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31 - Wikidata - awgldk - TriplyDB

Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31

Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31

http://www.wikidata.org/entity/Q37332766

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Autosomal recessive nonsyndromic deafness genes: a review Phenotypic Heterogeneity in a DFNA20/26 family segregating a novel ACTG1 mutation.A Chromosome 17 Locus Engenders Frequency-Specific Non-Progressive Hearing Loss that Contributes to Age-Related Hearing Loss in Mice.Modifiers of hearing impairment in humans and mice.Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.Genotyping with a 198 mutation arrayed primer extension array for hereditary hearing loss: assessment of its diagnostic value for medical practice.Saturation of the human phenome Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss.Functional evaluation of GJB2 variants in nonsyndromic hearing loss.Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment.The genetic bases for non-syndromic hearing loss among Chinese Identification of SLC26A4 c.919-2A>G compound heterozygosity in hearing-impaired patients to improve genetic counseling.Digenic inheritance in medical genetics GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Unraveling of Enigmatic Hearing-Impaired GJB2 Single Heterozygotes by Massive Parallel Sequencing: DFNB1 or Not?Diverse deafness mechanisms of connexin mutations revealed by studies using in vitro approaches and mouse models.Developing regional genetic counseling for southern Chinese with nonsyndromic hearing impairment: a unique mutational spectrum.Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations.Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing-based diagnostic testing and interpretation.Human diseases associated with connexin mutations.EKV mutant connexin 31 associated cell death is mediated by ER stress.Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect.Exome Sequencing Identifies a Novel Nonsense Mutation of MYO6 as the Cause of Deafness in a Brazilian Family.Genetic Linkage Analysis of DFNB4, DFNB28, DFNB93 Loci in Autosomal Recessive Non-syndromic Hearing Loss: Evidence for Digenic Inheritance in GJB2 and GJB3 Mutations.Heterozygous mutation of Ush1g/Sans in mice causes early-onset progressive hearing loss, which is recovered by reconstituting the strain-specific mutation in Cdh23.Identification and genotype/phenotype correlation of mutations in a large German cohort with hearing loss.Mechanism of a novel missense mutation, p.V174M, of the human connexin31 (GJB3) in causing nonsyndromic hearing loss.Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A.Extending the phenotypic spectrum of keratitis-ichthyosis-deafness syndrome: report of a patient with GJB2 (G12R) Connexin 26 mutation and unusual clinical findings.Mutational analysis for GJB2, GJB6, and GJB3 genes in Campania within a universal neonatal hearing screening programme.Evidence of digenic inheritance in Alport syndrome.Pathogenic Cx31 is un/misfolded to cause skin abnormality via a Fos/JunB-mediated mechanism.1p34.3 deletion involving GRIK3: Further clinical implication of GRIK family glutamate receptors in the pathogenesis of developmental delay.Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment

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Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31

http://www.wikidata.org/entity/Q37332766

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article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 03 December 2008

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Digenic inheritance of non-syn ...... unction proteins Cx26 and Cx31

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Digenic inheritance of non-syn ...... nction proteins Cx26 and Cx31.

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Digenic inheritance of non-syn ...... unction proteins Cx26 and Cx31

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Digenic inheritance of non-syn ...... nction proteins Cx26 and Cx31.

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Digenic inheritance of non-syn ...... unction proteins Cx26 and Cx31

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Digenic inheritance of non-syn ...... nction proteins Cx26 and Cx31.

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Digenic inheritance of non-syn ...... unction proteins Cx26 and Cx31

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Denise Yan

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Dong Yang Kang

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Emilie Hong Ding

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Guojian Wang

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Huijun Yuan

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Li Lin Du

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Pu Dai

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Qing Chang

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Shoeb Ahmad

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Wenxue Tang

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P2860

Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss

Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene

Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus

The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3

Mutation analysis of Connexin 31 (GJB3) in sporadic non-syndromic hearing impairment

The 342-kb deletion in GJB6 is not present in patients with non-syndromic hearing loss from Austria

Molecular interaction of connexin 30.3 and connexin 31 suggests a dominant-negative mechanism associated with erythrokeratodermia variabilis

Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment

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s00439-008-0602-9

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10.1007/S00439-008-0602-9

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