Cochlin
Cochlin (Cochlin) هوَ بروتين يُشَفر بواسطة جين Cochlin في الإنسان.[1][2]
المراجع
- "Entrez Gene: COCH coagulation factor C homolog, cochlin (Limulus polyphemus)"، مؤرشف من الأصل في 6 مارس 2010.
- "Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction"، Nat Genet، 20 (3): 299–303، نوفمبر 1998، doi:10.1038/3118، PMID 9806553.
قراءة متعمقة
- "Autosomal dominant sensorineural hearing loss. Pedigrees, audiologic findings, and temporal bone findings in two kindreds."، Arch. Otolaryngol. Head Neck Surg.، 117 (9): 1032–42، 1991، doi:10.1001/archotol.1991.01870210104022، PMID 1910721.
- "Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening."، Genomics، 23 (1): 42–50، 1995، doi:10.1006/geno.1994.1457، PMID 7829101.
- Khetarpal U (1993)، "Autosomal dominant sensorineural hearing loss. Further temporal bone findings."، Arch. Otolaryngol. Head Neck Surg.، 119 (1): 106–8، doi:10.1001/archotol.1993.01880130108016، PMID 8417734.
- "A gene for non-syndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12-13."، Hum. Mol. Genet.، 5 (7): 1047–50، 1997، doi:10.1093/hmg/5.7.1047، PMID 8817345.
- "Mapping and characterization of a novel cochlear gene in human and in mouse: a positional candidate gene for a deafness disorder, DFNA9."، Genomics، 46 (3): 345–54، 1998، doi:10.1006/geno.1997.5067، PMID 9441737.
- "A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects."، Hum. Mol. Genet.، 8 (2): 361–6، 1999، doi:10.1093/hmg/8.2.361، PMID 9931344.
- "High prevalence of symptoms of Menière's disease in three families with a mutation in the COCH gene."، Hum. Mol. Genet.، 8 (8): 1425–9، 1999، doi:10.1093/hmg/8.8.1425، PMID 10400989.
- "Identification of a novel COCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families."، Hum. Mutat.، 17 (4): 351، 2001، doi:10.1002/humu.37، PMID 11295836.
- "COCH5B2 is a target antigen of anti-inner ear antibodies in autoimmune inner ear diseases."، Otol. Neurotol.، 22 (5): 614–8، 2001، doi:10.1097/00129492-200109000-00009، PMID 11568667.
- "NMR structure of the LCCL domain and implications for DFNA9 deafness disorder."، EMBO J.، 20 (19): 5347–53، 2001، doi:10.1093/emboj/20.19.5347، PMC 125649، PMID 11574466.
- "Inner ear localization of mRNA and protein products of COCH, mutated in the sensorineural deafness and vestibular disorder, DFNA9."، Hum. Mol. Genet.، 10 (22): 2493–500، 2002، doi:10.1093/hmg/10.22.2493، PMID 11709536.
- "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences."، Proc. Natl. Acad. Sci. U.S.A.، 99 (26): 16899–903، 2003، doi:10.1073/pnas.242603899، PMC 139241، PMID 12477932.
- "Subcellular localisation, secretion, and post-translational processing of normal cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9."، J. Med. Genet.، 40 (7): 479–86، 2003، doi:10.1136/jmg.40.7.479، PMC 1735525، PMID 12843317.
- "Mutations in COCH that result in non-syndromic autosomal dominant deafness (DFNA9) affect matrix deposition of cochlin."، Hum. Genet.، 113 (5): 406–16، 2003، doi:10.1007/s00439-003-0992-7، PMID 12928864.
- "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."، Genome Res.، 13 (10): 2265–70، 2003، doi:10.1101/gr.1293003، PMC 403697، PMID 12975309.
- "Progressive late-onset sensorineural hearing loss and vestibular impairment with vertigo (DFNA9/COCH): longitudinal analyses in a belgian family."، Otol. Neurotol.، 24 (5): 743–8، 2004، doi:10.1097/00129492-200309000-00009، PMID 14501450.
- "Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleo-vestibular dysfunction, but not of Ménière's disease."، Eur. J. Hum. Genet.، 11 (10): 744–8، 2004، doi:10.1038/sj.ejhg.5201043، PMID 14512963.
- "The human plasma proteome: a nonredundant list developed by combination of four separate sources."، Mol. Cell. Proteomics، 3 (4): 311–26، 2004، doi:10.1074/mcp.M300127-MCP200، PMID 14718574.
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