Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.
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Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndromeNovel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cellsIs TMC1 the Hair Cell Mechanotransducer Channel?PDZD7 and hearing loss: More than just a modifierA Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic FamilyAn alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humansDiversity of the Genes Implicated in Algerian Patients Affected by Usher SyndromeAdenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish.Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities.Zebrafish Models for the Mechanosensory Hair Cell Dysfunction in Usher Syndrome 3 Reveal That Clarin-1 Is an Essential Hair Bundle Protein.The physiology of mechanoelectrical transduction channels in hearing.Genetics of auditory mechano-electrical transduction.The cone-dominant retina and the inner ear of zebrafish express the ortholog of CLRN1, the causative gene of human Usher syndrome type 3A.Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafness.Complexes of Usher proteins preassemble at the endoplasmic reticulum and are required for trafficking and ER homeostasis.Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2.Genetic analysis through OtoSeq of Pakistani families segregating prelingual hearing lossMultifunctional glial support by Semper cells in the Drosophila retinaCIB2 interacts with TMC1 and TMC2 and is essential for mechanotransduction in auditory hair cells.Molecular genetics of the Usher syndrome in Lebanon: identification of 11 novel protein truncating mutations by whole exome sequencingNovel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa.Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome.Gene therapy restores auditory and vestibular function in a mouse model of Usher syndrome type 1c.Shaping the intestinal brush borderTargeted next generation sequencing for molecular diagnosis of Usher syndrome.Study of USH1 splicing variants through minigenes and transcript analysis from nasal epithelial cells.MYO7A and USH2A gene sequence variants in Italian patients with Usher syndromeTargeted exon sequencing in Usher syndrome type IAnalysis of the Ush2a gene in medaka fish (Oryzias latipes).Drosophila Dyrk2 plays a role in the development of the visual systemMassively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1EIAV-based retinal gene therapy in the shaker1 mouse model for usher syndrome type 1B: development of UshStat.Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patientsGene Expression by Mouse Inner Ear Hair Cells during Development.Photoreceptors in whirler mice show defective transducin translocation and are susceptible to short-term light/dark changes-induced degeneration.MARVELD2 (DFNB49) mutations in the hearing impaired Central European Roma population--prevalence, clinical impact and the common origin.SHIELD: an integrative gene expression database for inner ear research.Challenges and solutions for gene identification in the presence of familial locus heterogeneity.Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss
P2860
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P248
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P2860
Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.
description
2012 nî lūn-bûn
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2012 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
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name
Alterations of the CIB2 calciu ...... d nonsyndromic deafness DFNB48
@nl
Alterations of the CIB2 calciu ...... nonsyndromic deafness DFNB48.
@ast
Alterations of the CIB2 calciu ...... nonsyndromic deafness DFNB48.
@en
type
label
Alterations of the CIB2 calciu ...... d nonsyndromic deafness DFNB48
@nl
Alterations of the CIB2 calciu ...... nonsyndromic deafness DFNB48.
@ast
Alterations of the CIB2 calciu ...... nonsyndromic deafness DFNB48.
@en
prefLabel
Alterations of the CIB2 calciu ...... d nonsyndromic deafness DFNB48
@nl
Alterations of the CIB2 calciu ...... nonsyndromic deafness DFNB48.
@ast
Alterations of the CIB2 calciu ...... nonsyndromic deafness DFNB48.
@en
P2093
P2860
P50
P3181
P356
P1433
P1476
Alterations of the CIB2 calciu ...... nonsyndromic deafness DFNB48.
@en
P2093
Abdul Wali
Arnaud P J Giese
Asli Sirmaci
David Terrell
Elke K Buschbeck
Inna A Belyantseva
Javed Akram
Leslie V Parise
Muhammad Ansar
Muhammad Ayub
P2860
P2888
P304
P3181
P356
10.1038/NG.2426
P407
P50
P577
2012-09-30T00:00:00Z
P5875
P6179
1028251481