A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein

A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein

Item
http://www.wikidata.org/entity/Q28261878
Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblingsViral infection and human disease--insights from minimotifsTmprss3, a transmembrane serine protease deficient in human DFNB8/10 deafness, is critical for cochlear hair cell survival at the onset of hearing.Mice deficient for the type II transmembrane serine protease, TMPRSS1/hepsin, exhibit profound hearing loss.Identification of a novel homozygous mutation, TMPRSS3: c.535G>A, in a Tibetan family with autosomal recessive non-syndromic hearing loss.Massively parallel DNA sequencing successfully identifies new causative mutations in deafness genes in patients with cochlear implantation and EAS.Iterative Sequencing and Variant Screening (ISVS) as a novel pathogenic mutations search strategy - application for TMPRSS3 mutations screenGenotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutationsNovel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.Non-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE.Novel Mutations and Mutation Combinations of TMPRSS3 Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment.A novel mutation of TMPRSS3 related to milder auditory phenotype in Korean postlingual deafness: a possible future implication for a personalized auditory rehabilitation.Identification and analysis of the promoter region of the type II transmembrane serine protease polyserase-1 and its transcript variants.Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population.TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss.The patients associated with TMPRSS3 mutations are good candidates for electric acoustic stimulation.
P2860

A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein

Item
http://www.wikidata.org/entity/Q28261878
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2005 nî lūn-bûn
@nan
2005 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
name
A novel TMPRSS3 missense mutat ...... ytic activation of the protein
@ast
A novel TMPRSS3 missense mutat ...... ytic activation of the protein
@en
A novel TMPRSS3 missense mutat ...... ytic activation of the protein
@nl
type
label
A novel TMPRSS3 missense mutat ...... ytic activation of the protein
@ast
A novel TMPRSS3 missense mutat ...... ytic activation of the protein
@en
A novel TMPRSS3 missense mutat ...... ytic activation of the protein
@nl
prefLabel
A novel TMPRSS3 missense mutat ...... ytic activation of the protein
@ast
A novel TMPRSS3 missense mutat ...... ytic activation of the protein
@en
A novel TMPRSS3 missense mutat ...... ytic activation of the protein
@nl
P1433
P1476
P2093
P2888
P304
P31
P356
P407
P433
P478
P50
P577
P6179
P698
P921
P356
P1433
P1476
A novel TMPRSS3 missense mutat ...... ytic activation of the protein
@en
P2093
P2888
P304
P31
P356
P407
P433
P478
P50
P577
P6179
P698
P921