EFEMP1

An Error has occured retrieving Wikidata item for infobox EFEMP1‏ (EGF containing fibulin extracellular matrix protein 1) هوَ بروتين يُشَفر بواسطة جين EFEMP1 في الإنسان.^[1]^[2]^[3]

الوظيفة

الأهمية السريرية

المراجع

^ Ikegawa S، Toda T، Okui K، Nakamura Y (ديسمبر 1996). "Structure and chromosomal assignment of the human S1-5 gene (FBNL) that is highly homologous to fibrillin". Genomics. ج. 35 ع. 3: 590–2. DOI:10.1006/geno.1996.0402. PMID:8812496.
^ "Entrez Gene: EFEMP1 EGF-containing fibulin-like extracellular matrix protein 1". مؤرشف من الأصل في 2010-12-05.
^ Lecka-Czernik B، Lumpkin CK Jr، Goldstein S (يناير 1995). "An overexpressed gene transcript in senescent and quiescent human fibroblasts encoding a novel protein in the epidermal growth factor-like repeat family stimulates DNA synthesis". Mol Cell Biol. ج. 15 ع. 1: 120–8. PMC:231918. PMID:7799918.

قراءة متعمقة

Héon E، Piguet B، Munier F، وآخرون (1996). "Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21". Arch. Ophthalmol. ج. 114 ع. 2: 193–8. DOI:10.1001/archopht.1996.01100130187014. PMID:8573024.
Bonaldo MF، Lennon G، Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. ج. 6 ع. 9: 791–806. DOI:10.1101/gr.6.9.791. PMID:8889548.
Stone EM، Lotery AJ، Munier FL، وآخرون (1999). "A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy". Nat. Genet. ج. 22 ع. 2: 199–202. DOI:10.1038/9722. PMID:10369267.
Giltay R، Timpl R، Kostka G (2000). "Sequence, recombinant expression and tissue localization of two novel extracellular matrix proteins, fibulin-3 and fibulin-4". Matrix Biol. ج. 18 ع. 5: 469–80. DOI:10.1016/S0945-053X(99)00038-4. PMID:10601734.
Katsanis N، Venable S، Smith JR، Lupski JR (2000). "Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13". Hum. Genet. ج. 106 ع. 1: 66–72. DOI:10.1007/s004390051011. PMID:10982184.
Sauer CG، White K، Kellner U، وآخرون (2001). "EFEMP1 is not associated with sporadic early onset drusen". Ophthalmic Genet. ج. 22 ع. 1: 27–34. DOI:10.1076/opge.22.1.27.2239. PMID:11262647.
Matsumoto M، Traboulsi EI (2001). "Dominant radial drusen and Arg345Trp EFEMP1 mutation". Am. J. Ophthalmol. ج. 131 ع. 6: 810–2. DOI:10.1016/S0002-9394(00)00926-0. PMID:11384588.
Tarttelin EE، Gregory-Evans CY، Bird AC، وآخرون (2001). "Molecular genetic heterogeneity in autosomal dominant drusen". J. Med. Genet. ج. 38 ع. 6: 381–4. DOI:10.1136/jmg.38.6.381. PMC:1734899. PMID:11389162.
Marmorstein LY، Munier FL، Arsenijevic Y، وآخرون (2002). "Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration". Proc. Natl. Acad. Sci. U.S.A. ج. 99 ع. 20: 13067–72. DOI:10.1073/pnas.202491599. PMC:130587. PMID:12242346.
Guymer RH، McNeil R، Cain M، وآخرون (2003). "Analysis of the Arg345Trp disease-associated allele of the EFEMP1 gene in individuals with early onset drusen or familial age-related macular degeneration". Clin. Experiment. Ophthalmol. ج. 30 ع. 6: 419–23. DOI:10.1046/j.1442-9071.2002.00572.x. PMID:12427233.
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.
Yuryev A، Wennogle LP (2003). "Novel raf kinase protein-protein interactions found by an exhaustive yeast two-hybrid analysis". Genomics. ج. 81 ع. 2: 112–25. DOI:10.1016/S0888-7543(02)00008-3. PMID:12620389.
Blackburn J، Tarttelin EE، Gregory-Evans CY، وآخرون (2003). "Transcriptional regulation and expression of the dominant drusen gene FBLN3 (EFEMP1) in mammalian retina". Invest. Ophthalmol. Vis. Sci. ج. 44 ع. 11: 4613–21. DOI:10.1167/iovs.03-0112. PMID:14578376.
Ota T، Suzuki Y، Nishikawa T، وآخرون (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. ج. 36 ع. 1: 40–5. DOI:10.1038/ng1285. PMID:14702039.
Klenotic PA، Munier FL، Marmorstein LY، Anand-Apte B (2004). "Tissue inhibitor of metalloproteinases-3 (TIMP-3) is a binding partner of epithelial growth factor-containing fibulin-like extracellular matrix protein 1 (EFEMP1). Implications for macular degenerations". J. Biol. Chem. ج. 279 ع. 29: 30469–73. DOI:10.1074/jbc.M403026200. PMID:15123717.
Gerhard DS، Wagner L، Feingold EA، وآخرون (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. ج. 14 ع. 10B: 2121–7. DOI:10.1101/gr.2596504. PMC:528928. PMID:15489334.
Yáñez AJ، Bertinat R، Spichiger C، وآخرون (2005). "Novel expression of liver FBPase in Langerhans islets of human and rat pancreas". J. Cell. Physiol. ج. 205 ع. 1: 19–24. DOI:10.1002/jcp.20407. PMID:15965961.
Rual JF، Venkatesan K، Hao T، وآخرون (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. ج. 437 ع. 7062: 1173–8. DOI:10.1038/nature04209. PMID:16189514.
Hu B، Thirtamara-Rajamani KK، Sim H، Viapiano MS (نوفمبر 2009). "Fibulin-3 is uniquely upregulated in malignant gliomas and promotes tumor cell motility and invasion". Mol. Cancer Res. ج. 7 ع. 11: 1756–70. DOI:10.1158/1541-7786.MCR-09-0207. PMC:3896096. PMID:19887559.

هذه بذرة مقالة عن جين على كروموسوم 2 بحاجة للتوسيع. فضلًا شارك في تحريرها.

[pmid8812496-1] Ikegawa S، Toda T، Okui K، Nakamura Y (ديسمبر 1996). "Structure and chromosomal assignment of the human S1-5 gene (FBNL) that is highly homologous to fibrillin". Genomics. ج. 35 ع. 3: 590–2. DOI:10.1006/geno.1996.0402. PMID:8812496.

[entrez-2] "Entrez Gene: EFEMP1 EGF-containing fibulin-like extracellular matrix protein 1". مؤرشف من الأصل في 2010-12-05.

[pmid7799918-3] Lecka-Czernik B، Lumpkin CK Jr، Goldstein S (يناير 1995). "An overexpressed gene transcript in senescent and quiescent human fibroblasts encoding a novel protein in the epidermal growth factor-like repeat family stimulates DNA synthesis". Mol Cell Biol. ج. 15 ع. 1: 120–8. PMC:231918. PMID:7799918.

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