Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment.
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Prevalence of various etiologies of hearing loss among cochlear implant recipients: Systematic review and meta-analysisNovel compound heterozygous TMC1 mutations associated with autosomal recessive hearing loss in a Chinese familyIdentification of Two Novel Compound Heterozygous PTPRQ Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese FamilyAllelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family.Characterization of the Transcriptomes of Lgr5+ Hair Cell Progenitors and Lgr5- Supporting Cells in the Mouse Cochlea.Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss.The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populations.Cytoplasmic mislocalization of POU3F4 due to novel mutations leads to deafness in humans and mice.Molecular and clinical studies of X-linked deafness among Pakistani families.Whole-exome sequencing identifies a novel genotype-phenotype correlation in the entactin domain of the known deafness gene TECTA.Genetic analysis through OtoSeq of Pakistani families segregating prelingual hearing lossOverexpression of SMPX in adult skeletal muscle does not change skeletal muscle fiber type or size.GPRASP2, a novel causative gene mutated in an X-linked recessive syndromic hearing loss.Whole-exome sequencing and its impact in hereditary hearing lossMolecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform.Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing studyExploration of molecular genetic etiology for Korean cochlear implantees with severe to profound hearing loss and its implication.Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients.Downsloping high-frequency hearing loss due to inner ear tricellular tight junction disruption by a novel ILDR1 mutation in the Ig-like domainNonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss.Deafness in the genomics eraHigh-throughput sequencing to decipher the genetic heterogeneity of deafness.The nuclear receptor NOR-1 regulates the small muscle protein, X-linked (SMPX) and myotube differentiation.Next-generation sequencing in genetic hearing loss.Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing.Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6.Application of next generation sequencing upon the molecular genetic diagnosis of deafness.Genetics: advances in genetic testing for deafness.Non-syndromic hereditary sensorineural hearing loss: review of the genes involved.A novel deletion in SMPX causes a rare form of X-linked progressive hearing loss in two families due to a founder effect.Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan.Integrated sequence analysis pipeline provides one-stop solution for identifying disease-causing mutations.Genetic basis of hearing loss in Spanish, Hispanic and Latino populations.NOT THAT RIGID MIDGETS AND NOT SO FLEXIBLE GIANTS: ON THE ABUNDANCE AND ROLES OF INTRINSIC DISORDER IN SHORT AND LONG PROTEINSX-Linked Sensorineural Hearing Loss: A Literature ReviewClinical and molecular characterization of POU3F4 mutations in multiple DFNX2 Chinese families
P2860
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P2860
Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment.
description
2011 nî lūn-bûn
@nan
2011 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Next-generation sequencing ide ...... rogressive hearing impairment.
@ast
Next-generation sequencing ide ...... rogressive hearing impairment.
@en
type
label
Next-generation sequencing ide ...... rogressive hearing impairment.
@ast
Next-generation sequencing ide ...... rogressive hearing impairment.
@en
prefLabel
Next-generation sequencing ide ...... rogressive hearing impairment.
@ast
Next-generation sequencing ide ...... rogressive hearing impairment.
@en
P2093
P2860
P50
P1476
Next-generation sequencing ide ...... rogressive hearing impairment.
@en
P2093
Hannie Kremer
Henricus P M Kunst
Jaap Oostrik
Lies H Hoefsloot
Margit Schraders
Nicole J D Weegerink
Patrick L M Huygen
Ronald J C Admiraal
Ronald J E Pennings
P2860
P304
P356
10.1016/J.AJHG.2011.04.012
P407
P577
2011-05-05T00:00:00Z