| 释义 |
- References
- Further reading
- External links
{{Infobox_gene}}Fascin-2 is a protein that in humans is encoded by the FSCN2 gene.[1][2]This gene encodes a member of the fascin protein family. Fascins crosslink actin into filamentous bundles within dynamic cell extensions. This family member is proposed to play a role in photoreceptor disk morphogenesis. A mutation in this gene results in one form of autosomal dominant retinitis pigmentosa and macular degeneration. Multiple transcript variants encoding different isoforms have been found for this gene.[3] References1. ^{{cite journal |vauthors=Bardien-Kruger S, Greenberg J, Tubb B, Bryan J, Queimado L, Lovett M, Ramesar RS | title = Refinement of the RP17 locus for autosomal dominant retinitis pigmentosa, construction of a YAC contig and investigation of the candidate gene retinal fascin | journal = Eur J Hum Genet | volume = 7 | issue = 3 | pages = 332–8 |date=Jun 1999 | pmid = 10234509 | pmc = | doi = 10.1038/sj.ejhg.5200302 }}
2. ^{{cite web | title = Entrez Gene: FSCN2 fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=25794| accessdate = }}
3. ^{{cite web | title = Entrez Gene: FSCN2 fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=25794| accessdate = }}
Further reading{{refbegin | 2}}- {{cite journal |vauthors=Hillier LD, Lennon G, Becker M |title=Generation and analysis of 280,000 human expressed sequence tags. |journal=Genome Res. |volume=6 |issue= 9 |pages= 807–28 |year= 1997 |pmid= 8889549 |doi=10.1101/gr.6.9.807 |display-authors=etal}}
- {{cite journal |vauthors=Tubb BE, Bardien-Kruger S, Kashork CD |title=Characterization of human retinal fascin gene (FSCN2) at 17q25: close physical linkage of fascin and cytoplasmic actin genes. |journal=Genomics |volume=65 |issue= 2 |pages= 146–56 |year= 2000 |pmid= 10783262 |doi= 10.1006/geno.2000.6156 |display-authors=etal}}
- {{cite journal |vauthors=Saishin Y, Ishikawa R, Ugawa S |title=Retinal fascin: functional nature, subcellular distribution, and chromosomal localization. |journal=Invest. Ophthalmol. Vis. Sci. |volume=41 |issue= 8 |pages= 2087–95 |year= 2000 |pmid= 10892848 |doi= |display-authors=etal}}
- {{cite journal |vauthors=Wada Y, Abe T, Takeshita T |title=Mutation of human retinal fascin gene (FSCN2) causes autosomal dominant retinitis pigmentosa. |journal=Invest. Ophthalmol. Vis. Sci. |volume=42 |issue= 10 |pages= 2395–400 |year= 2001 |pmid= 11527955 |doi= |display-authors=etal}}
- {{cite journal |vauthors=Guan Y, Woo PL, Rubenstein NM, Firestone GL |title=Transforming growth factor-alpha abrogates the glucocorticoid stimulation of tight junction formation and reverses the steroid-induced down-regulation of fascin in rat mammary epithelial tumor cells by a Ras-dependent pathway. |journal=Exp. Cell Res. |volume=273 |issue= 1 |pages= 1–11 |year= 2002 |pmid= 11795941 |doi= 10.1006/excr.2001.5415 }}
- {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |display-authors=etal}}
- {{cite journal |vauthors=Wada Y, Abe T, Itabashi T |title=Autosomal dominant macular degeneration associated with 208delG mutation in the FSCN2 gene. |journal=Arch. Ophthalmol. |volume=121 |issue= 11 |pages= 1613–20 |year= 2003 |pmid= 14609921 |doi= 10.1001/archopht.121.11.1613 |display-authors=etal}}
- {{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 |display-authors=etal}}
- {{cite journal |vauthors=Gamundi MJ, Hernan I, Maseras M |title=Sequence variations in the retinal fascin FSCN2 gene in a Spanish population with autosomal dominant retinitis pigmentosa or macular degeneration. |journal=Mol. Vis. |volume=11 |issue= |pages= 922–8 |year= 2006 |pmid= 16280978 |doi= |display-authors=etal}}
- {{cite journal |vauthors=Zhang Q, Li S, Xiao X |title=The 208delG mutation in FSCN2 does not associate with retinal degeneration in Chinese individuals. |journal=Invest. Ophthalmol. Vis. Sci. |volume=48 |issue= 2 |pages= 530–3 |year= 2007 |pmid= 17251446 |doi= 10.1167/iovs.06-0669 |display-authors=etal}}
{{refend}}External links- [https://www.ncbi.nlm.nih.gov/books/NBK1417/ GeneReviews/NCBI/NIH/UW entry on Retinitis Pigmentosa Overview]
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