| 释义 |
- References
- Further reading
{{Infobox_gene}}Keratin 12 is a protein that in humans is encoded by the KRT12 gene.[1][1]Keratin 12 is keratin found expressed in corneal epithelia. Mutations in the gene encoding this protein lead to Meesmann corneal dystrophy.[2] References1. ^{{cite journal |vauthors=Schweizer J, Bowden PE, Coulombe PA, Langbein L, Lane EB, Magin TM, Maltais L, Omary MB, Parry DA, Rogers MA, Wright MW | title = New consensus nomenclature for mammalian keratins | journal = J. Cell Biol. | volume = 174 | issue = 2 | pages = 169–74 |date=July 2006 | pmid = 16831889 | pmc = 2064177 | doi = 10.1083/jcb.200603161 | url = | issn = }}
2. ^1 {{cite journal |vauthors=Irvine AD, Corden LD, Swensson O, Swensson B, Moore JE, Frazer DG, Smith FJ, Knowlton RG, Christophers E, Rochels R, Uitto J, McLean WH | title = Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy | journal = Nat. Genet. | volume = 16 | issue = 2 | pages = 184–7 |date=June 1997 | pmid = 9171831 | doi = 10.1038/ng0697-184 | url = | issn = }}
Further reading{{refbegin | 2}}- {{cite journal |vauthors=Yoon MK, Warren JF, Holsclaw DS, etal |title=A novel arginine substitution mutation in 1A domain and a novel 27 bp insertion mutation in 2B domain of keratin 12 gene associated with Meesmann's corneal dystrophy. |journal=Br J Ophthalmol |volume=88 |issue= 6 |pages= 752–6 |year= 2004 |pmid= 15148206 |doi= 10.1136/bjo.2003.032870 |pmc=1772161}}
- {{cite journal |vauthors=Corden LD, Swensson O, Swensson B, etal |title=Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene. |journal=Exp. Eye Res. |volume=70 |issue= 1 |pages= 41–9 |year= 2000 |pmid= 10644419 |doi= 10.1006/exer.1999.0769 }}
- {{cite journal |vauthors=Takahashi K, Takahashi K, Murakami A, etal |title=Heterozygous Ala137Pro mutation in keratin 12 gene found in Japanese with Meesmann's corneal dystrophy. |journal=Jpn. J. Ophthalmol. |volume=46 |issue= 6 |pages= 673–4 |year= 2002|pmid= 12543196 |doi= 10.1016/S0021-5155(02)00563-4}}
- {{cite journal |vauthors=Sullivan LS, Baylin EB, Font R, etal |title=A novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophy. |journal=Mol. Vis. |volume=13 |issue= |pages= 975–80 |year= 2007 |pmid= 17653038 |doi= |pmc=2774455}}
- {{cite journal |vauthors=Nishida K, Honma Y, Dota A, etal |title=Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy. |journal=Am. J. Hum. Genet. |volume=61 |issue= 6 |pages= 1268–75 |year= 1997 |pmid= 9399908 |doi= 10.1086/301650 |pmc=1716060}}
- {{cite journal |vauthors=Nielsen K, Orntoft T, Hjortdal J, etal |title=A novel mutation as the basis for asymptomatic meesmann dystrophy in a Danish family. |journal=Cornea |volume=27 |issue= 1 |pages= 100–2 |year= 2008 |pmid= 18245975 |doi= 10.1097/ICO.0b013e31815652fd }}
- {{cite journal |vauthors=Nishida K, Adachi W, Shimizu-Matsumoto A, etal |title=A gene expression profile of human corneal epithelium and the isolation of human keratin 12 cDNA. |journal=Invest. Ophthalmol. Vis. Sci. |volume=37 |issue= 9 |pages= 1800–9 |year= 1996 |pmid= 8759347 |doi= }}
- {{cite journal |vauthors=Gevaert K, Goethals M, Martens L, etal |title=Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. |journal=Nat. Biotechnol. |volume=21 |issue= 5 |pages= 566–9 |year= 2003 |pmid= 12665801 |doi= 10.1038/nbt810 }}
- {{cite journal |vauthors=Seto T, Fujiki K, Kishishita H, etal |title=A novel mutation in the cornea-specific keratin 12 gene in Meesmann corneal dystrophy. |journal=Jpn. J. Ophthalmol. |volume=52 |issue= 3 |pages= 224–6 |year= 2008|pmid= 18661274 |doi= 10.1007/s10384-007-0518-2 }}
- {{cite journal |vauthors=Corden LD, Swensson O, Swensson B, etal |title=A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy. |journal=Br J Ophthalmol |volume=84 |issue= 5 |pages= 527–30 |year= 2000 |pmid= 10781519 |doi= 10.1136/bjo.84.5.527 |pmc=1723457}}
- {{cite journal |vauthors=Nichini O, Manzi V, Munier FL, Schorderet DF |title=Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene. |journal=Ophthalmic Genet. |volume=26 |issue= 4 |pages= 169–73 |year= 2005 |pmid= 16352477 |doi= 10.1080/13816810500374391 }}
- {{cite journal |vauthors=Chen YT, Tseng SH, Chao SC |title=Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy. |journal=Cornea |volume=24 |issue= 8 |pages= 928–32 |year= 2005 |pmid= 16227835 |doi= 10.1097/01.ico.0000159732.29930.26}}
{{refend}}{{Cytoskeletal proteins}}{{Gene-17-stub}} 1 : Keratins |