Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss.
about
A 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.Overexpression 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 lossAssessing the enrichment performance in targeted resequencing experiments.Exploration of molecular genetic etiology for Korean cochlear implantees with severe to profound hearing loss and its implication.Downsloping high-frequency hearing loss due to inner ear tricellular tight junction disruption by a novel ILDR1 mutation in the Ig-like domainNext-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment.Convergent evolution of the genomes of marine mammals.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 form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6.Non-syndromic hereditary sensorineural hearing loss: review of the genes involved.Gene expression profiles of the cochlea and vestibular endorgans: localization and function of genes causing deafness.A novel deletion in SMPX causes a rare form of X-linked progressive hearing loss in two families due to a founder effect.Genetic basis of hearing loss in Spanish, Hispanic and Latino populations.A novel mutation in POU3F4 in a Chinese family with X-linked non-syndromic hearing loss.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
Q30354540-98F474E8-5C0D-4A40-A42E-562D354C8ED4Q30356896-177E5233-068B-438F-B8B3-13406C1503B4Q30367238-B38C4F1C-EF78-441A-A155-E579B9CBA7B8Q30397202-A83CF68A-6D21-4477-8C57-4048C71BB2C1Q30412441-A8D5E755-E23B-4010-A443-496181F4F4B3Q30433617-4A09E2B6-358A-4BE1-B78D-02BBD42B43AFQ30471802-8C0A5575-72A4-4669-B277-AB1876E4EF79Q33768784-147C6E0F-9E0D-43E2-9084-877AAE8628A4Q33886237-E2FC5BC7-994E-4E7B-AD40-B77C93907D91Q33889479-CA356DCD-B73E-4E1D-A265-9B93C564F694Q34145331-58EE4C30-74A1-4AD2-903D-902F8B74475DQ34568122-27183C28-51E9-4F6C-8E94-A394268BFD0BQ35068853-A9CB9D5C-9D57-475D-AD77-9FB9516529B6Q35136932-09497EE6-EE77-4881-8353-2754B854E033Q35549129-AD921838-EAA9-4D79-B44E-A0AB41E2F5BAQ35592651-01A9EE0C-D811-4F77-8811-D1E88F9AAC6DQ36245206-56D6F7CD-D478-46D6-BF09-EB6207E16CC4Q36903019-898BED59-6B7B-4D6B-B4D9-C8A71306FB15Q37067040-13E30AEC-978B-46CD-A92A-F6DE83001566Q37493035-2581801D-AA1F-41C1-BBA1-6D10BF106C77Q38178411-465A924D-2696-4414-9089-DE8DEEE2B556Q38393019-1974925D-F58E-46A4-A81E-A8E960655B69Q39293477-C153C64F-B861-474C-9544-8F20B8593963Q50055310-15EB9E53-2337-4B64-8034-42BA3257E1FDQ55221358-540FDB04-2F8A-4C43-ADD8-D712BC2E0BCCQ56993044-3A5A3B1F-6981-4CEB-B85B-2676E5B258E9Q57171854-B82EE892-E1A0-40E0-A78F-8EAF3CD63656Q58765599-BAFA0FE0-EBB4-41F3-A8C1-CFB522D8B744
P2860
Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss.
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
Nonsense mutations in SMPX, en ...... in X-chromosomal hearing loss.
@ast
Nonsense mutations in SMPX, en ...... in X-chromosomal hearing loss.
@en
type
label
Nonsense mutations in SMPX, en ...... in X-chromosomal hearing loss.
@ast
Nonsense mutations in SMPX, en ...... in X-chromosomal hearing loss.
@en
prefLabel
Nonsense mutations in SMPX, en ...... in X-chromosomal hearing loss.
@ast
Nonsense mutations in SMPX, en ...... in X-chromosomal hearing loss.
@en
P2093
P2860
P50
P1476
Nonsense mutations in SMPX, en ...... in X-chromosomal hearing loss.
@en
P2093
Andreas Gal
Anika Maak
Antje K Huebner
Antonio Viñuela
Christian A Hübner
Eva M Wicklein
Felipe Moreno
Florian Wagner
Hannes Maier
Holger Thiele
P2860
P304
P356
10.1016/J.AJHG.2011.04.007
P407
P577
2011-05-05T00:00:00Z