Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF). - Wikidata - thesis-toulmin - TriplyDB

Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF).

Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF).

http://www.wikidata.org/entity/Q47367429

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Autosomal recessive nonsyndromic deafness genes: a review Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice.OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele Genetics of hearing and deafness The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy Identification of a novel pathogenic OTOF variant causative of nonsyndromic hearing loss with high frequency in the Ashkenazi Jewish population.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.Prediction of cochlear implant performance by genetic mutation: the spiral ganglion hypothesis Auditory neuropathy associated with postnatally acquired cytomegalovirus infection in a very preterm infant Molecular biology of hearing.Information from cochlear potentials and genetic mutations helps localize the lesion site in auditory neuropathy.Abnormal cochlear potentials from deaf patients with mutations in the otoferlin gene N100 cortical potentials accompanying disrupted auditory nerve activity in auditory neuropathy (AN): effects of signal intensity and continuous noise.Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy.Function and expression pattern of nonsyndromic deafness genes A missense mutation in the conserved C2B domain of otoferlin causes deafness in a new mouse model of DFNB9 A dominantly inherited progressive deafness affecting distal auditory nerve and hair cells.Multiple quantitative trait loci modify cochlear hair cell degeneration in the Beethoven (Tmc1Bth) mouse model of progressive hearing loss DFNA36.OTOF mutation screening in Japanese severe to profound recessive hearing loss patients.Deafness mutation mining using regular expression based pattern matching.Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?Variants of OTOF and PJVK genes in Chinese patients with auditory neuropathy spectrum disorder.Screening of genetic alterations related to non-syndromic hearing loss using MassARRAY iPLEX® technology Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan.Editorial: 'auditory neuropathy' and cochlear implantation - myths and facts.Deafness genes in Israel: implications for diagnostics in the clinic.Structure and development of cochlear afferent innervation in mammals.Pathophysiological mechanisms and functional hearing consequences of auditory neuropathy.Features of autosomal recessive non-syndromic hearing impairment: a review to serve as a reference.Molecular diagnostics for hereditary hearing loss in children.Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing.Parents' perspectives on the dilemmas with intervention for infants with auditory neuropathy spectrum disorder: A qualitative study.Ca2+-binding protein 2 inhibits Ca2+-channel inactivation in mouse inner hair cells.AUNX1, a novel locus responsible for X linked recessive auditory and peripheral neuropathy, maps to Xq23-27.3.Tryptophan-rich basic protein (WRB) mediates insertion of the tail-anchored protein otoferlin and is required for hair cell exocytosis and hearing.What's hot about otoferlin.ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy.

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P2860

Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF).

http://www.wikidata.org/entity/Q47367429

description

2003 nî lūn-bûn

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2003年の論文

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2003年学术文章

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2003年学术文章

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2003年学术文章

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2003年学术文章

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2003年学术文章

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2003年学术文章

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2003年學術文章

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2003年學術文章

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name

Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF).

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Auditory neuropathy in patients carrying mutations in the otoferlin gene

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type

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Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF).

@en

Auditory neuropathy in patients carrying mutations in the otoferlin gene

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prefLabel

Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF).

@en

Auditory neuropathy in patients carrying mutations in the otoferlin gene

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Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF).

@en

P2093

Constantino Morera

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

Cristina Navas

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

Felipe Moreno

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Félix Prieto

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Germán Trinidad

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Jaime Gallo-Terán

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Jaime Marco

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M Cruz Tapia

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Miguel A Moreno-Pelayo

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Montserrat Rodríguez-Ballesteros

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P2860

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

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

Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene

Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss.

Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus

Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness

A deletion involving the connexin 30 gene in nonsyndromic hearing impairment

GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review

Advances in hereditary deafness.

Genetic causes of hearing loss.

P304

451-456

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10.1002/HUMU.10274

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6

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22

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Francisco J del Castillo

Ignacio del Castillo

Carmelo Morales-Angulo

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2003-12-01T00:00:00Z

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8993575

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14635104

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