Cochlin
Cochlin (Cochlin) هوَ بروتين يُشَفر بواسطة جين Cochlin في الإنسان.[1][2]
الوظيفة
المراجع
- "Entrez Gene: COCH coagulation factor C homolog, cochlin (Limulus polyphemus)". مؤرشف من الأصل في 2010-03-06.
- Robertson NG، Lu L، Heller S، Merchant SN، Eavey RD، McKenna M، Nadol JB Jr، Miyamoto RT، Linthicum FH Jr، Lubianca Neto JF، Hudspeth AJ، Seidman CE، Morton CC، Seidman JG (نوفمبر 1998). "Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction". Nat Genet. ج. 20 ع. 3: 299–303. DOI:10.1038/3118. PMID:9806553.
قراءة متعمقة
- Khetarpal U، Schuknecht HF، Gacek RR، Holmes LB (1991). "Autosomal dominant sensorineural hearing loss. Pedigrees, audiologic findings, and temporal bone findings in two kindreds". Arch. Otolaryngol. Head Neck Surg. ج. 117 ع. 9: 1032–42. DOI:10.1001/archotol.1991.01870210104022. PMID:1910721.
- Robertson NG، Khetarpal U، Gutiérrez-Espeleta GA، وآخرون (1995). "Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening". Genomics. ج. 23 ع. 1: 42–50. 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. ج. 119 ع. 1: 106–8. DOI:10.1001/archotol.1993.01880130108016. PMID:8417734.
- Manolis EN، Yandavi N، Nadol JB، وآخرون (1997). "A gene for non-syndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12-13". Hum. Mol. Genet. ج. 5 ع. 7: 1047–50. DOI:10.1093/hmg/5.7.1047. PMID:8817345.
- Robertson NG، Skvorak AB، Yin Y، وآخرون (1998). "Mapping and characterization of a novel cochlear gene in human and in mouse: a positional candidate gene for a deafness disorder, DFNA9". Genomics. ج. 46 ع. 3: 345–54. DOI:10.1006/geno.1997.5067. PMID:9441737.
- de Kok YJ، Bom SJ، Brunt TM، وآخرون (1999). "A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects". Hum. Mol. Genet. ج. 8 ع. 2: 361–6. DOI:10.1093/hmg/8.2.361. PMID:9931344.
- Fransen E، Verstreken M، Verhagen WI، وآخرون (1999). "High prevalence of symptoms of Menière's disease in three families with a mutation in the COCH gene". Hum. Mol. Genet. ج. 8 ع. 8: 1425–9. DOI:10.1093/hmg/8.8.1425. PMID:10400989.
- Kamarinos M، McGill J، Lynch M، Dahl H (2001). "Identification of a novel COCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families". Hum. Mutat. ج. 17 ع. 4: 351. DOI:10.1002/humu.37. PMID:11295836.
- Boulassel MR، Tomasi JP، Deggouj N، Gersdorff M (2001). "COCH5B2 is a target antigen of anti-inner ear antibodies in autoimmune inner ear diseases". Otol. Neurotol. ج. 22 ع. 5: 614–8. DOI:10.1097/00129492-200109000-00009. PMID:11568667.
- Liepinsh E، Trexler M، Kaikkonen A، وآخرون (2001). "NMR structure of the LCCL domain and implications for DFNA9 deafness disorder". EMBO J. ج. 20 ع. 19: 5347–53. DOI:10.1093/emboj/20.19.5347. PMC:125649. PMID:11574466.
- Robertson NG، Resendes BL، Lin JS، وآخرون (2002). "Inner ear localization of mRNA and protein products of COCH, mutated in the sensorineural deafness and vestibular disorder, DFNA9". Hum. Mol. Genet. ج. 10 ع. 22: 2493–500. DOI:10.1093/hmg/10.22.2493. PMID:11709536.
- Strausberg RL، Feingold EA، Grouse LH، وآخرون (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. ج. 99 ع. 26: 16899–903. DOI:10.1073/pnas.242603899. PMC:139241. PMID:12477932.
- Robertson NG، Hamaker SA، Patriub V، وآخرون (2003). "Subcellular localisation, secretion, and post-translational processing of normal cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9". J. Med. Genet. ج. 40 ع. 7: 479–86. DOI:10.1136/jmg.40.7.479. PMC:1735525. PMID:12843317.
- Grabski R، Szul T، Sasaki T، وآخرون (2003). "Mutations in COCH that result in non-syndromic autosomal dominant deafness (DFNA9) affect matrix deposition of cochlin". Hum. Genet. ج. 113 ع. 5: 406–16. DOI:10.1007/s00439-003-0992-7. PMID:12928864.
- Clark HF، Gurney AL، Abaya E، وآخرون (2003). "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment". Genome Res. ج. 13 ع. 10: 2265–70. DOI:10.1101/gr.1293003. PMC:403697. PMID:12975309.
- Lemaire FX، Feenstra L، Huygen PL، وآخرون (2004). "Progressive late-onset sensorineural hearing loss and vestibular impairment with vertigo (DFNA9/COCH): longitudinal analyses in a belgian family". Otol. Neurotol. ج. 24 ع. 5: 743–8. DOI:10.1097/00129492-200309000-00009. PMID:14501450.
- Usami S، Takahashi K، Yuge I، وآخرون (2004). "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. ج. 11 ع. 10: 744–8. DOI:10.1038/sj.ejhg.5201043. PMID:14512963.
- Anderson NL، Polanski M، Pieper R، وآخرون (2004). "The human plasma proteome: a nonredundant list developed by combination of four separate sources". Mol. Cell. Proteomics. ج. 3 ع. 4: 311–26. DOI:10.1074/mcp.M300127-MCP200. PMID:14718574.
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