ELOVL4
ELOVL4 (ELOVL fatty acid elongase 4) هوَ بروتين يُشَفر بواسطة جين ELOVL4 في الإنسان.[1][2]
الوظيفة
هذا القسم فارغ أو غير مكتمل، ساهم بتحريره.الأهمية السريرية
هذا القسم فارغ أو غير مكتمل، ساهم بتحريره.المراجع
- Zhang K, Kniazeva M, Han M, Li W, Yu Z, Yang Z, Li Y, Metzker ML, Allikmets R, Zack DJ, Kakuk LE, Lagali PS, Wong PW, MacDonald IM, Sieving PA, Figueroa DJ, Austin CP, Gould RJ, Ayyagari R, Petrukhin K (Jan 2001). "A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy". Nat Genet. 27 (1): 89–93. doi:10.1038/83817. PMID 11138005. الوسيط
|CitationClass=تم تجاهله (مساعدة) - "Entrez Gene: ELOVL4 elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4". مؤرشف من الأصل في 05 ديسمبر 2010. الوسيط
|CitationClass=تم تجاهله (مساعدة)
قراءة متعمقة
- Zhang K, Bither PP, Park R, et al. (1994). "A dominant Stargardt's macular dystrophy locus maps to chromosome 13q34". Arch. Ophthalmol. 112 (6): 759–64. doi:10.1001/archopht.1994.01090180057035. PMID 8002833. الوسيط
|CitationClass=تم تجاهله (مساعدة) - Stone EM, Nichols BE, Kimura AE, et al. (1994). "Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q". Arch. Ophthalmol. 112 (6): 765–72. doi:10.1001/archopht.1994.01090180063036. PMID 8002834. الوسيط
|CitationClass=تم تجاهله (مساعدة) - Edwards AO, Miedziak A, Vrabec T, et al. (1999). "Autosomal dominant Stargardt-like macular dystrophy: I. Clinical characterization, longitudinal follow-up, and evidence for a common ancestry in families linked to chromosome 6q14". Am. J. Ophthalmol. 127 (4): 426–35. doi:10.1016/S0002-9394(98)00331-6. PMID 10218695. الوسيط
|CitationClass=تم تجاهله (مساعدة) - Li Y, Marcos I, Borrego S, et al. (2001). "Evaluation of the ELOVL4 gene in families with retinitis pigmentosa linked to the RP25 locus". J. Med. Genet. 38 (7): 478–80. doi:10.1136/jmg.38.7.478. PMC 1757187. PMID 11474659. الوسيط
|CitationClass=تم تجاهله (مساعدة) - Edwards AO, Donoso LA, Ritter R (2001). "A novel gene for autosomal dominant Stargardt-like macular dystrophy with homology to the SUR4 protein family". Invest. Ophthalmol. Vis. Sci. 42 (11): 2652–63. PMID 11581213. الوسيط
|CitationClass=تم تجاهله (مساعدة) - Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. الوسيط
|CitationClass=تم تجاهله (مساعدة) - Rivolta C, Ayyagari R, Sieving PA, et al. (2003). "Evaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis". Mol. Vis. 9: 49–51. PMID 12592226. الوسيط
|CitationClass=تم تجاهله (مساعدة) - Lagali PS, Liu J, Ambasudhan R, et al. (2003). "Evolutionarily conserved ELOVL4 gene expression in the vertebrate retina". Invest. Ophthalmol. Vis. Sci. 44 (7): 2841–50. doi:10.1167/iovs.02-0991. PMID 12824221. الوسيط
|CitationClass=تم تجاهله (مساعدة) - Vrabec TR, Tantri A, Edwards A, et al. (2003). "Autosomal dominant Stargardt-like macular dystrophy: identification of a new family with a mutation in the ELOVL4 gene". Am. J. Ophthalmol. 136 (3): 542–5. doi:10.1016/S0002-9394(03)00227-7. PMID 12967813. الوسيط
|CitationClass=تم تجاهله (مساعدة) - Mungall AJ, Palmer SA, Sims SK, et al. (2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805–11. doi:10.1038/nature02055. PMID 14574404. الوسيط
|CitationClass=تم تجاهله (مساعدة) - Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039. الوسيط
|CitationClass=تم تجاهله (مساعدة) - Ambasudhan R, Wang X, Jablonski MM, et al. (2004). "Atrophic macular degeneration mutations in ELOVL4 result in the intracellular misrouting of the protein". Genomics. 83 (4): 615–25. doi:10.1016/j.ygeno.2003.10.004. PMID 15028284. الوسيط
|CitationClass=تم تجاهله (مساعدة) - Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334. الوسيط
|CitationClass=تم تجاهله (مساعدة) - Grayson C, Molday RS (2005). "Dominant negative mechanism underlies autosomal dominant Stargardt-like macular dystrophy linked to mutations in ELOVL4". J. Biol. Chem. 280 (37): 32521–30. doi:10.1074/jbc.M503411200. PMID 16036915. الوسيط
|CitationClass=تم تجاهله (مساعدة) - Lai Z, Zhang XN, Zhou W, et al. (2006). "Evaluation of the ELOVL4 gene in a Chinese family with autosomal dominant STGD3-like macular dystrophy". J. Cell. Mol. Med. 9 (4): 961–5. doi:10.1111/j.1582-4934.2005.tb00392.x. PMID 16364203. الوسيط
|CitationClass=تم تجاهله (مساعدة) - Hubbard AF, Askew EW, Singh N, et al. (2006). "Association of adipose and red blood cell lipids with severity of dominant Stargardt macular dystrophy (STGD3) secondary to an ELOVL4 mutation". Arch. Ophthalmol. 124 (2): 257–63. doi:10.1001/archopht.124.2.257. PMID 16476896. الوسيط
|CitationClass=تم تجاهله (مساعدة) - Seitsonen S, Lemmelä S, Holopainen J, et al. (2006). "Analysis of variants in the complement factor H, the elongation of very long chain fatty acids-like 4 and the hemicentin 1 genes of age-related macular degeneration in the Finnish population". Mol. Vis. 12: 796–801. PMID 16885922. الوسيط
|CitationClass=تم تجاهله (مساعدة) - McMahon A, Butovich IA, Mata NL, et al. (2007). "Retinal pathology and skin barrier defect in mice carrying a Stargardt disease-3 mutation in elongase of very long chain fatty acids-4". Mol. Vis. 13: 258–72. PMC 2633486. PMID 17356513. الوسيط
|CitationClass=تم تجاهله (مساعدة)
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