Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus. - Wikidata - wikimedia - TriplyDB

Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus.

Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus.

http://www.wikidata.org/entity/Q42137072

about

Distinct roles of molecular chaperones HSP90α and HSP90β in the biogenesis of KCNQ4 channels A novel pore-region mutation, c.887G > A (p.G296D) in KCNQ4, causing hearing loss in a Chinese family with autosomal dominant non-syndromic deafness 2.Genetics of hearing loss: focus on DFNA2.Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation.Relative time course of degeneration of different cochlear structures in the CD/1 mouse model of accelerated aging.Identification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of multiple phenocopies of unknown origin in a family with ADSNHL.Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing.Deafness gene expression patterns in the mouse cochlea found by microarray analysis Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene.DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.Using the phenome and genome to improve genetic diagnosis for deafness.Impaired surface expression and conductance of the KCNQ4 channel lead to sensorineural hearing loss A contemporary review of AudioGene audioprofiling: a machine-based candidate gene prediction tool for autosomal dominant nonsyndromic hearing loss.Genotype phenotype correlations for hearing impairment: approaches to management.Genetic investigations in childhood deafness.Republished: Genetic investigations in childhood deafness.AudioGene: predicting hearing loss genotypes from phenotypes to guide genetic screening.Audioprofile-directed successful mutation analysis in a DFNA2/KCNQ4 (p.Leu274His) family.

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P2860

Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus.

http://www.wikidata.org/entity/Q42137072

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name

Audioprofile-directed screenin ...... aring loss at the DFNA2 locus.

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Audioprofile-directed screenin ...... aring loss at the DFNA2 locus.

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type

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Audioprofile-directed screenin ...... aring loss at the DFNA2 locus.

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Audioprofile-directed screenin ...... aring loss at the DFNA2 locus.

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Audioprofile-directed screenin ...... aring loss at the DFNA2 locus.

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Audioprofile-directed screenin ...... aring loss at the DFNA2 locus.

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Genetics in Medicine

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Audioprofile-directed screenin ...... earing loss at the DFNA2 locus

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Carla Nishimura

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Dylan Tack

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In Ae Hur

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Patrick Huygen

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Sarah J McMordie

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Thomas L Casavant

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P2860

KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness

Nonsyndromic hearing impairment: unparalleled heterogeneity

Comparisons of substitution, insertion and deletion probes for resequencing and mutational analysis using oligonucleotide microarrays

Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment

Transgenic expression of a dominant-negative connexin26 causes degeneration of the organ of Corti and non-syndromic deafness

Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss

Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families

Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment

Mice with altered KCNQ4 K+ channels implicate sensory outer hair cells in human progressive deafness.

Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.

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Michael S. Hildebrand

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