BFSP2
BFSP2 (Beaded filament structural protein 2) هوَ بروتين يُشَفر بواسطة جين BFSP2 في الإنسان.[1]
الوظيفة
الأهمية السريرية
المراجع
- ^ "Entrez Gene: BFSP2 beaded filament structural protein 2, phakinin". مؤرشف من الأصل في 2010-12-05.
قراءة متعمقة
- Merdes A، Gounari F، Georgatos SD (1994). "The 47-kD lens-specific protein phakinin is a tailless intermediate filament protein and an assembly partner of filensin". J. Cell Biol. ج. 123 ع. 6 Pt 1: 1507–16. DOI:10.1083/jcb.123.6.1507. PMC:2290875. PMID:7504675.
- Hess JF، Casselman JT، FitzGerald PG (1995). "Chromosomal locations of the genes for the beaded filament proteins CP 115 and CP 47". Curr. Eye Res. ج. 14 ع. 1: 11–8. DOI:10.3109/02713689508999909. PMID:7720401.
- Hess JF، Casselman JT، FitzGerald PG (1996). "Gene structure and cDNA sequence identify the beaded filament protein CP49 as a highly divergent type I intermediate filament protein". J. Biol. Chem. ج. 271 ع. 12: 6729–35. DOI:10.1074/jbc.271.41.25089. PMID:8636093.
{{استشهاد بدورية محكمة}}: صيانة الاستشهاد: دوي مجاني غير معلم (link) - 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.
- Hess JF، Casselman JT، Kong AP، FitzGerald PG (1998). "Primary sequence, secondary structure, gene structure, and assembly properties suggests that the lens-specific cytoskeletal protein filensin represents a novel class of intermediate filament protein". Exp. Eye Res. ج. 66 ع. 5: 625–44. DOI:10.1006/exer.1998.0478. PMID:9628810.
- Conley YP، Erturk D، Keverline A، وآخرون (2000). "A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2". Am. J. Hum. Genet. ج. 66 ع. 4: 1426–31. DOI:10.1086/302871. PMC:1288209. PMID:10729115.
- Jakobs PM، Hess JF، FitzGerald PG، وآخرون (2000). "Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2". Am. J. Hum. Genet. ج. 66 ع. 4: 1432–6. DOI:10.1086/302872. PMC:1288210. PMID:10739768.
- Carter JM، McLean WH، West S، Quinlan RA (2000). "Mapping of the human CP49 gene and identification of an intragenic polymorphic marker to allow genetic linkage analysis in autosomal dominant congenital cataract". Biochem. Biophys. Res. Commun. ج. 270 ع. 2: 432–6. DOI:10.1006/bbrc.2000.2442. PMID:10753642.
- 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.
- 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.
- Zhang Q، Guo X، Xiao X، وآخرون (2005). "Clinical description and genome wide linkage study of Y-sutural cataract and myopia in a Chinese family". Mol. Vis. ج. 10: 890–900. PMID:15570218.
- Zhang L، Gao L، Li Z، وآخرون (2007). "Progressive sutural cataract associated with a BFSP2 mutation in a Chinese family". Mol. Vis. ج. 12: 1626–31. PMID:17200662.
- Cui X، Gao L، Jin Y، وآخرون (2007). "The E233del mutation in BFSP2 causes a progressive autosomal dominant congenital cataract in a Chinese family". Mol. Vis. ج. 13: 2023–9. PMID:17982427.