Function and expression pattern of nonsyndromic deafness genes - Wikidata - wikimedia - TriplyDB

Function and expression pattern of nonsyndromic deafness genes

Function and expression pattern of nonsyndromic deafness genes

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Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans Autosomal recessive nonsyndromic deafness genes: a review Genetics of hearing loss in Africans: use of next generation sequencing is the best way forward Structures of usher syndrome 1 proteins and their complexes In vivo analysis of Lrig genes reveals redundant and independent functions in the inner ear The application of genome editing in studying hearing loss Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese Family Using Xenopus to discover new genes involved in branchiootorenal spectrum disorders The E3 ligase Ubr3 regulates Usher syndrome and MYH9 disorder proteins in the auditory organs of Drosophila and mammals POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss Genetic Predisposition to Sporadic Congenital Hearing Loss in a Pediatric Population A novel missense mutation in the C2C domain of otoferlin causes profound hearing impairment in an Omani family with auditory neuropathy.Diagnostic application of targeted resequencing for familial nonsyndromic hearing loss.MicroRNAs in inner ear biology and pathogenesis.Calcium signaling in the cochlea - Molecular mechanisms and physiopathological implications.Viral vector tropism for supporting cells in the developing murine cochlea.Ion homeostasis in the ear: mechanisms, maladies, and management.BAAV mediated GJB2 gene transfer restores gap junction coupling in cochlear organotypic cultures from deaf Cx26Sox10Cre mice.Novel compound heterozygous mutations in the OTOF Gene identified by whole-exome sequencing in auditory neuropathy spectrum disorder.Efficiency of microarray and SNPscan for the detection of hearing loss gene in 71 cases with nonsyndromic hearing loss Small molecule screening in zebrafish: an in vivo approach to identifying new chemical tools and drug leads.Spectrum of genetic changes in patients with non-syndromic hearing impairment and extremely high carrier frequency of 35delG GJB2 mutation in Belarus.Inner ear morphology is perturbed in two novel mouse models of recessive deafness.Eeyore: a novel mouse model of hereditary deafness.High prevalence of CDH23 mutations in patients with congenital high-frequency sporadic or recessively inherited hearing loss.Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p Identification and Clinical Implications of Novel MYO15A Mutations in a Non-consanguineous Korean Family by Targeted Exome Sequencing.Proteomic analysis of the organ of corti using nanoscale liquid chromatography coupled with tandem mass spectrometry.Genetic Linkage Analysis of 15 DFNB Loci in a Group of Iranian Families with Autosomal Recessive Hearing Loss.PSIP1/LEDGF: a new gene likely involved in sensorineural progressive hearing loss.Distinct Expression Patterns Of Causative Genes Responsible For Hereditary Progressive Hearing Loss In Non-Human Primate Cochlea.Towards an etiologic diagnosis: assessing the patient with hearing loss Development of the stria vascularis and potassium regulation in the human fetal cochlea: Insights into hereditary sensorineural hearing loss Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.Massively Parallel Sequencing of a Chinese Family with DFNA9 Identified a Novel Missense Mutation in the LCCL Domain of COCH.Ca2+ homeostasis defects and hereditary hearing loss.Genetics of hearing loss: where are we standing now?Clinical applications and implications of common and founder mutations in Indian subpopulations.Mechanisms linking connexin mutations to human diseases.Potential Uses and Inherent Challenges of Using Genome-Scale Sequencing to Augment Current Newborn Screening.

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Function and expression pattern of nonsyndromic deafness genes

http://www.wikidata.org/entity/Q30482629

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2009 nî lūn-bûn

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2009 թուականի Յունիսին հրատարակուած գիտական յօդուած

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2009年の論文

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2009年學術文章

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Function and expression pattern of nonsyndromic deafness genes

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Function and expression pattern of nonsyndromic deafness genes

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Function and expression pattern of nonsyndromic deafness genes

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Function and expression pattern of nonsyndromic deafness genes

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Function and expression pattern of nonsyndromic deafness genes

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Nele Hilgert

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Sequence similarity between stereocilin and otoancorin points to a unified mechanism for mechanotransduction in the mammalian inner ear.

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

Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)

Very large G protein-coupled receptor-1, the largest known cell surface protein, is highly expressed in the developing central nervous system

PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23

From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30

Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss

Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss

A new compartment at stereocilia tips defined by spatial and temporal patterns of myosin IIIa expression

Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans

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