BFSP2
BFSP2 (Beaded filament structural protein 2) هوَ بروتين يُشَفر بواسطة جين BFSP2 في الإنسان.[1]
المراجع
- "Entrez Gene: BFSP2 beaded filament structural protein 2, phakinin"، مؤرشف من الأصل في 05 ديسمبر 2010.
قراءة متعمقة
- "The 47-kD lens-specific protein phakinin is a tailless intermediate filament protein and an assembly partner of filensin."، J. Cell Biol.، 123 (6 Pt 1): 1507–16، 1994، doi:10.1083/jcb.123.6.1507، PMC 2290875، PMID 7504675.
- "Chromosomal locations of the genes for the beaded filament proteins CP 115 and CP 47."، Curr. Eye Res.، 14 (1): 11–8، 1995، doi:10.3109/02713689508999909، PMID 7720401.
- "Gene structure and cDNA sequence identify the beaded filament protein CP49 as a highly divergent type I intermediate filament protein."، J. Biol. Chem.، 271 (12): 6729–35، 1996، doi:10.1074/jbc.271.41.25089، PMID 8636093.
- "Normalization and subtraction: two approaches to facilitate gene discovery."، Genome Res.، 6 (9): 791–806، 1997، doi:10.1101/gr.6.9.791، PMID 8889548.
- "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.، 66 (5): 625–44، 1998، doi:10.1006/exer.1998.0478، PMID 9628810.
- "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.، 66 (4): 1426–31، 2000، doi:10.1086/302871، PMC 1288209، PMID 10729115.
- "Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2."، Am. J. Hum. Genet.، 66 (4): 1432–6، 2000، doi:10.1086/302872، PMC 1288210، PMID 10739768.
- "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.، 270 (2): 432–6، 2000، doi:10.1006/bbrc.2000.2442، PMID 10753642.
- "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، 2003، doi:10.1073/pnas.242603899، PMC 139241، PMID 12477932.
- "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."، Genome Res.، 14 (10B): 2121–7، 2004، doi:10.1101/gr.2596504، PMC 528928، PMID 15489334.
- "Clinical description and genome wide linkage study of Y-sutural cataract and myopia in a Chinese family."، Mol. Vis.، 10: 890–900، 2005، PMID 15570218.
- "Progressive sutural cataract associated with a BFSP2 mutation in a Chinese family."، Mol. Vis.، 12: 1626–31، 2007، PMID 17200662.
- "The E233del mutation in BFSP2 causes a progressive autosomal dominant congenital cataract in a Chinese family."، Mol. Vis.، 13: 2023–9، 2007، PMID 17982427.
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