Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss
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Wolframin expression induces novel ion channel activity in endoplasmic reticulum membranes and increases intracellular calciumWolfram Syndrome: Diagnosis, Management, and TreatmentFinding new genes for non-syndromic hearing loss through an in silico prioritization studyHearing loss in a mouse model of Muenke syndromeProfound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15.At the speed of sound: gene discovery in the auditory systemHereditary non-syndromic sensorineural hearing loss: transforming silence to soundA common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect.Congenital central diabetes insipidus and optic atrophy in a Wolfram newborn: is there a role for WFS1 gene in neurodevelopment?A novel mutation in the WFS1 gene identified in a Taiwanese family with low-frequency hearing impairment.A novel WFS1 mutation in a family with dominant low frequency sensorineural hearing loss with normal VEMP and EcochG findingsAutosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation.Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB55 to chromosome 4q12-q13.2.Whole-exome sequencing to decipher the genetic heterogeneity of hearing loss in a Chinese family with deaf by deaf mating.Several novel nuclear envelope transmembrane proteins identified in skeletal muscle have cytoskeletal associations.Non-syndromic autosomal-dominant deafness.Genetic screening for hearing loss.Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene.Screening of genetic alterations related to non-syndromic hearing loss using MassARRAY iPLEX® technologyMolecular characterization of WFS1 in patients with Wolfram syndromeDFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.Nuclear membrane diversity: underlying tissue-specific pathologies in disease?Phenotype Prediction of Pathogenic Nonsynonymous Single Nucleotide Polymorphisms in WFS1Wolfram syndrome - clinical and diagnostic details.Genetics of deafness: recent advances and clinical implications.Taperin (c9orf75), a mutated gene in nonsyndromic deafness, encodes a vertebrate specific, nuclear localized protein phosphatase one alpha (PP1α) docking proteinA homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2Hereditary sensorineural hearing loss: advances in molecular genetics and mutation analysis.Familial Wolfram syndrome due to compound heterozygosity for two novel WFS1 mutations.Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene.Autosomal dominant diabetes arising from a Wolfram syndrome 1 mutation.Clinical report: variable phenotypic expression in a large sibling cohort with a deletion of 4p16.1.Tissue specificity in the nuclear envelope supports its functional complexity.Inherited hearing loss: molecular genetics and diagnostic testing.Genetic investigations in childhood deafness.Republished: Genetic investigations in childhood deafness.Endoplasmic Reticulum (ER) Stress and Endocrine Disorders.Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus.WFS1 variants in Finnish patients with diabetes mellitus, sensorineural hearing impairment or optic atrophy, and in suicide victims.
P2860
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P2860
Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss
description
2001 nî lūn-bûn
@nan
2001 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Mutations in the Wolfram syndr ...... ncy sensorineural hearing loss
@ast
Mutations in the Wolfram syndr ...... ncy sensorineural hearing loss
@en
Mutations in the Wolfram syndr ...... ncy sensorineural hearing loss
@nl
type
label
Mutations in the Wolfram syndr ...... ncy sensorineural hearing loss
@ast
Mutations in the Wolfram syndr ...... ncy sensorineural hearing loss
@en
Mutations in the Wolfram syndr ...... ncy sensorineural hearing loss
@nl
prefLabel
Mutations in the Wolfram syndr ...... ncy sensorineural hearing loss
@ast
Mutations in the Wolfram syndr ...... ncy sensorineural hearing loss
@en
Mutations in the Wolfram syndr ...... ncy sensorineural hearing loss
@nl
P2093
P3181
P356
P1476
Mutations in the Wolfram syndr ...... ncy sensorineural hearing loss
@en
P2093
C W Cremers
I N Bespalova
K Flothmann
M Burmeister
M M Lesperance
P304
P3181
P356
10.1093/HMG/10.22.2501
P407
P50
P577
2001-10-15T00:00:00Z