OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9. - Wikidata - awgldk - TriplyDB

OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9.

OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9.

http://www.wikidata.org/entity/Q24538784

about

Reduced plasma membrane expression of dysferlin mutants is attributed to accelerated endocytosis via a syntaxin-4-associated pathway Autosomal recessive nonsyndromic deafness genes: a review OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele Ferlins: regulators of vesicle fusion for auditory neurotransmission, receptor trafficking and membrane repair The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations Otoferlin couples to clathrin-mediated endocytosis in mature cochlear inner hair cells A novel missense mutation in the C2C domain of otoferlin causes profound hearing impairment in an Omani family with auditory neuropathy.Synaptic transmission between end bulbs of Held and bushy cells in the cochlear nucleus of mice with a mutation in Otoferlin.Otoferlin deficiency in zebrafish results in defects in balance and hearing: rescue of the balance and hearing phenotype with full-length and truncated forms of mouse otoferlin.Evidence for genotype-phenotype correlation for OTOF mutations.A novel otoferlin splice-site mutation in siblings with auditory neuropathy spectrum disorder.Identification of the hair cell soma-1 antigen, HCS-1, as otoferlin.Auditory cortical N100 in pre- and post-synaptic auditory neuropathy to frequency or intensity changes of continuous tones Abnormal cochlear potentials from deaf patients with mutations in the otoferlin gene Signatures from tissue-specific MPSS libraries identify transcripts preferentially expressed in the mouse inner ear.Screening mutations of OTOF gene in Chinese patients with auditory neuropathy, including a familial case of temperature-sensitive auditory neuropathy A missense mutation in the conserved C2B domain of otoferlin causes deafness in a new mouse model of DFNB9 Calcium regulates molecular interactions of otoferlin with soluble NSF attachment protein receptor (SNARE) proteins required for hair cell exocytosis.Novel compound heterozygous mutations in the OTOF Gene identified by whole-exome sequencing in auditory neuropathy spectrum disorder.OTOF mutation screening in Japanese severe to profound recessive hearing loss patients.Complex regulation and multiple developmental functions of misfire, the Drosophila melanogaster ferlin gene.Proteomic analysis of the dysferlin protein complex unveils its importance for sarcolemmal maintenance and integrity Variants of OTOF and PJVK genes in Chinese patients with auditory neuropathy spectrum disorder.Characterization of the lipid binding properties of Otoferlin reveals specific interactions between PI(4,5)P2 and the C2C and C2F domains.Otoferlin is a calcium sensor that directly regulates SNARE-mediated membrane fusion.Myoferlin depletion in breast cancer cells promotes mesenchymal to epithelial shape change and stalls invasion Expression of myoferlin in human airway epithelium and its role in cell adhesion and zonula occludens-1 expression.Molecular physiology of SPAK and OSR1: two Ste20-related protein kinases regulating ion transport.Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia).Dysferlin and muscle membrane repair.Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan.Genetic Linkage Analysis of 15 DFNB Loci in a Group of Iranian Families with Autosomal Recessive Hearing Loss.Pseudo-immortalization of postnatal cochlear progenitor cells yields a scalable cell line capable of transcriptionally regulating mature hair cell genes.The molecular architecture of ribbon presynaptic terminals Placental dysferlin expression is reduced in severe preeclampsia.Refinement of Molecular Diagnostic Protocol of Auditory Neuropathy Spectrum Disorder: Disclosure of Significant Level of Etiologic Homogeneity in Koreans and Its Clinical Implications.Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families.Inherited hearing loss: molecular genetics and diagnostic testing.Gene expression profiles of the cochlea and vestibular endorgans: localization and function of genes causing deafness.Function coupling of otoferlin with GAD65 acts to modulate GABAergic activity.

P2860

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P2860

OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9.

http://www.wikidata.org/entity/Q24538784

description

2000 nî lūn-bûn

@nan

2000 թուականի Յուլիսին հրատարակուած գիտական յօդուած

@hyw

2000 թվականի հուլիսին հրատարակված գիտական հոդված

@hy

2000年の論文

@ja

2000年論文

@yue

2000年論文

@zh-hant

2000年論文

@zh-hk

2000年論文

@zh-mo

2000年論文

@zh-tw

2000年论文

@wuu

name

OTOF encodes multiple long and ...... erlie recessive deafness DFNB9

@nl

OTOF encodes multiple long and ...... rlie recessive deafness DFNB9.

@ast

OTOF encodes multiple long and ...... rlie recessive deafness DFNB9.

@en

type

label

OTOF encodes multiple long and ...... erlie recessive deafness DFNB9

@nl

OTOF encodes multiple long and ...... rlie recessive deafness DFNB9.

@ast

OTOF encodes multiple long and ...... rlie recessive deafness DFNB9.

@en

prefLabel

OTOF encodes multiple long and ...... erlie recessive deafness DFNB9

@nl

OTOF encodes multiple long and ...... rlie recessive deafness DFNB9.

@ast

OTOF encodes multiple long and ...... rlie recessive deafness DFNB9.

@en

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P2860

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P1433

American Journal of Human Genetics

P1476

OTOF encodes multiple long and ...... rlie recessive deafness DFNB9.

@en

P2093

A K Lalwani

http://www.w3.org/2001/XMLSchema#string

E R Wilcox

http://www.w3.org/2001/XMLSchema#string

S Chardenoux

http://www.w3.org/2001/XMLSchema#string

S Yasunaga

http://www.w3.org/2001/XMLSchema#string

T B Friedman

http://www.w3.org/2001/XMLSchema#string

T N Smith

http://www.w3.org/2001/XMLSchema#string

P2860

A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness

Myoferlin, a candidate gene and potential modifier of muscular dystrophy

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

Structure of the first C2 domain of synaptotagmin I: a novel Ca2+/phospholipid-binding fold

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

Mutations in the myosin VIIA gene cause non-syndromic recessive deafness

The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene

A mutation in PDS causes non-syndromic recessive deafness

Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B

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591-600

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scholarly article

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2292787

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P356

10.1086/303049

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P407

P433

3

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P478

67

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P50

Christine Petit

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2000-07-19T00:00:00Z

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12416453

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10903124

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1287519

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