| 释义 |
- Clinical significance
- See also
- References
- Further reading
{{Infobox gene}}Extracellular matrix protein FRAS1 is a protein that in humans is encoded by the FRAS1 (Fraser syndrome 1) gene.[1][2] This gene encodes an extracellular matrix protein that appears to function in the regulation of epidermal-basement membrane adhesion and organogenesis during development. Clinical significance Mutations in this gene have been observed to cause fraser syndrome.[3] See also References 1. ^{{cite web | title = Entrez Gene: Fraser syndrome 1|url=https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=80144| accessdate = }}
2. ^{{cite journal | vauthors = McGregor L, Makela V, Darling SM, Vrontou S, Chalepakis G, Roberts C, Smart N, Rutland P, Prescott N, Hopkins J, Bentley E, Shaw A, Roberts E, Mueller R, Jadeja S, Philip N, Nelson J, Francannet C, Perez-Aytes A, Megarbane A, Kerr B, Wainwright B, Woolf AS, Winter RM, Scambler PJ | title = Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein | journal = Nat. Genet. | volume = 34 | issue = 2 | pages = 203–8 |date=June 2003 | pmid = 12766769 | doi = 10.1038/ng1142 |url=| issn = }}
3. ^{{cite web|url=https://www.genecards.org/cgi-bin/carddisp.pl?gene=Fras1|title=Fraser syndrome 1|accessdate=May 17, 2010|date=February 23, 2010}}
Further reading {{refbegin | 2}}- {{cite journal |vauthors=Short K, Wiradjaja F, Smyth I |title=Let's stick together: the role of the Fras1 and Frem proteins in epidermal adhesion. |journal=IUBMB Life |volume=59 |issue= 7 |pages= 427–35 |year= 2007 |pmid= 17654118 |doi= 10.1080/15216540701510581 }}
- {{cite journal |vauthors=Long J, Wei Z, Feng W |title=Supramodular nature of GRIP1 revealed by the structure of its PDZ12 tandem in complex with the carboxyl tail of Fras1. |journal=J. Mol. Biol. |volume=375 |issue= 5 |pages= 1457–68 |year= 2008 |pmid= 18155042 |doi= 10.1016/j.jmb.2007.11.088 |display-authors=etal|hdl=10397/14647 }}
- {{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=Jugessur A, Shi M, Gjessing HK |title=Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. |journal=PLoS ONE |volume=5 |issue= 7 |pages= e11493 |year= 2010 |pmid= 20634891 |doi= 10.1371/journal.pone.0011493 |pmc=2901336|display-authors=etal|bibcode=2010PLoSO...511493J }}
- {{cite journal |vauthors=Ota T, Suzuki Y, Nishikawa T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |display-authors=etal}}
- {{cite journal |vauthors=Medland SE, Nyholt DR, Painter JN |title=Common variants in the trichohyalin gene are associated with straight hair in Europeans. |journal=Am. J. Hum. Genet. |volume=85 |issue= 5 |pages= 750–5 |year= 2009 |pmid= 19896111 |doi= 10.1016/j.ajhg.2009.10.009 |pmc=2775823|display-authors=etal}}
- {{cite journal |vauthors=Vrontou S, Petrou P, Meyer BI |title=Fras1 deficiency results in cryptophthalmos, renal agenesis and blebbed phenotype in mice. |journal=Nat. Genet. |volume=34 |issue= 2 |pages= 209–14 |year= 2003 |pmid= 12766770 |doi= 10.1038/ng1168 |display-authors=etal}}
- {{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= 2002 |pmid= 12477932 |doi= 10.1073/pnas.242603899 |pmc=139241|display-authors=etal|bibcode=2002PNAS...9916899M }}
- {{cite journal |vauthors=Kimura K, Wakamatsu A, Suzuki Y |title=Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |journal=Genome Res. |volume=16 |issue= 1 |pages= 55–65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406 |pmc=1356129|display-authors=etal}}
- {{cite journal |vauthors=Docherty SJ, Kovas Y, Petrill SA, Plomin R |title=Generalist genes analysis of DNA markers associated with mathematical ability and disability reveals shared influence across ages and abilities. |journal=BMC Genet. |volume=11 |issue= |pages= 61 |year= 2010 |pmid= 20602751 |doi= 10.1186/1471-2156-11-61 |pmc=2909150}}
- {{cite journal |vauthors=Gattuso J, Patton MA, Baraitser M |title=The clinical spectrum of the Fraser syndrome: report of three new cases and review. |journal=J. Med. Genet. |volume=24 |issue= 9 |pages= 549–55 |year= 1987 |pmid= 3118036 |doi= 10.1136/jmg.24.9.549 |pmc=1050267}}
- {{cite journal |vauthors=van Haelst MM, Maiburg M, Baujat G |title=Molecular study of 33 families with Fraser syndrome new data and mutation review. |journal=Am. J. Med. Genet. A |volume=146A |issue= 17 |pages= 2252–7 |year= 2008 |pmid= 18671281 |doi= 10.1002/ajmg.a.32440 |display-authors=etal}}
- {{cite journal |vauthors=Nagase T, Kikuno R, Ishikawa K |title=Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. |journal=DNA Res. |volume=7 |issue= 2 |pages= 143–50 |year= 2000 |pmid= 10819331 |doi= 10.1093/dnares/7.2.143|display-authors=etal}}
{{refend}}{{Fibrous proteins}}{{biochem-stub}} 1 : Extracellular matrix proteins |