USH2A
USH2A (Usherin) هوَ بروتين يُشَفر بواسطة جين USH2A في الإنسان.[1][2][3]
الوظيفة
هذا القسم فارغ أو غير مكتمل، ساهم بتحريره.الأهمية السريرية
هذا القسم فارغ أو غير مكتمل، ساهم بتحريره.المراجع
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قراءة متعمقة
- Michalski N, Michel V, Bahloul A, Lefèvre G, Barral J, Yagi H, Chardenoux S, Weil D, Martin P, Hardelin JP, Sato M, Petit C (2007). "Molecular characterization of the ankle-link complex in cochlear hair cells and its role in the hair bundle functioning". J. Neurosci. 27 (24): 6478–88. doi:10.1523/JNEUROSCI.0342-07.2007. PMID 17567809. الوسيط
|CitationClass=تم تجاهله (مساعدة) - Liu X, Bulgakov OV, Darrow KN, Pawlyk B, Adamian M, Liberman MC, Li T (2007). "Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells". Proc Natl Acad Sci U S A. 104 (11): 4413–8. doi:10.1073/pnas.0610950104. PMC 1838616. PMID 17360538. الوسيط
|CitationClass=تم تجاهله (مساعدة) - Ahmed ZM, Riazuddin S, Riazuddin S, Wilcox ER (2004). "The molecular genetics of Usher syndrome". Clin. Genet. 63 (6): 431–44. doi:10.1034/j.1399-0004.2003.00109.x. PMID 12786748. الوسيط
|CitationClass=تم تجاهله (مساعدة) - Roland FP (1978). "Management of atypical pneumonias in view of the new entity "Legionnaire's disease"". Rhode Island medical journal. 61 (7): 270–2. PMID 276901. الوسيط
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|CitationClass=تم تجاهله (مساعدة) - Adato A, Weston MD, Berry A, et al. (2000). "Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families". Hum. Mutat. 15 (4): 388. doi:10.1002/(SICI)1098-1004(200004)15:4<388::AID-HUMU27>3.0.CO;2-N. PMID 10738000. الوسيط
|CitationClass=تم تجاهله (مساعدة) - Rivolta C, Sweklo EA, Berson EL, Dryja TP (2001). "Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss". Am. J. Hum. Genet. 66 (6): 1975–8. doi:10.1086/302926. PMC 1378039. PMID 10775529. الوسيط
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|CitationClass=تم تجاهله (مساعدة) - Leroy BP, Aragon-Martin JA, Weston MD, et al. (2001). "Spectrum of mutations in USH2A in British patients with Usher syndrome type II". Exp. Eye Res. 72 (5): 503–9. doi:10.1006/exer.2000.0978. PMID 11311042. الوسيط
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|CitationClass=تم تجاهله (مساعدة) - Nájera C, Beneyto M, Blanca J, et al. (2002). "Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively". Hum. Mutat. 20 (1): 76–7. doi:10.1002/humu.9042. PMID 12112664. الوسيط
|CitationClass=تم تجاهله (مساعدة) - Huang D, Eudy JD, Uzvolgyi E, et al. (2003). "Identification of the mouse and rat orthologs of the gene mutated in Usher syndrome type IIA and the cellular source of USH2A mRNA in retina, a target tissue of the disease". Genomics. 80 (2): 195–203. doi:10.1006/geno.2002.6823. PMID 12160733. الوسيط
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|CitationClass=تم تجاهله (مساعدة) - Bhattacharya G, Kalluri R, Orten DJ, et al. (2004). "A domain-specific usherin/collagen IV interaction may be required for stable integration into the basement membrane superstructure". J. Cell Sci. 117 (Pt 2): 233–42. doi:10.1242/jcs.00850. PMID 14676276. الوسيط
|CitationClass=تم تجاهله (مساعدة) - Aller E, Nájera C, Millán JM, et al. (2004). "Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments". Eur. J. Hum. Genet. 12 (5): 407–10. doi:10.1038/sj.ejhg.5201138. PMID 14970843. الوسيط
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|CitationClass=تم تجاهله (مساعدة)
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بوابة الكيمياء الحيوية
بوابة علم الأحياء الخلوي والجزيئي
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