Property Summary

NCBI Gene PubMed Count 21
PubMed Score 50.53
PubTator Score 179.87

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
ulcerative colitis -1.200 4.1e-04

Gene RIF (12)

PMID Text
24801514 Combined with an effective delivery vehicle this siRNA approach represents a viable treatment option for prevention of the MECD pathology observed in K12-Leu132Pro heterozygous individuals.
24099278 We identified a novel missense mutation of the KRT12 gene in Meesmann corneal dystrophy. The in vivo confocal microscopy examinations revealed previously unreported depth-dependent ultrastructural changes in the living cornea.
23569037 Exon sequencing of KRT3 and KRT12 in six affected and eight unaffected individuals did not detect any mutations or nucleotide sequence variants in Meesmann epithelial corneal dystrophy.
23233254 The lead siRNA, with an IC(50) of thirty picomolar, showed no keratin off-target effects or activation of TLR3 in the concentration ranges tested.
23222558 The Leu132Pro missense mutation is within the helix-initiation motif of the keratin and is predicted to result in a significant structural change of the K12 protein.
20577595 Novel missense mutation within the highly conserved helix-initiation motif of KRT12 causing Meesmann's corneal dystrophy in a German family.
18661274 The novel L433R mutation of the KRT12 gene found in two members of this Japanese family caused Meesmann corneal dystrophy (MECD).
18245975 This is the second family recently diagnosed with Meesmann dystrophy in Denmark. The family represents its own distinct genotype, independent of previously reported ones. All patients with microcysts were asymptomatic.
17653038 Mutation associated with symptomatic phenotype of Meesmann's corneal dystrophy. Results in substitution of proline for arginine in helix termination motif that may disrupt normal helix, leading to dramatic structural change of keratin 12 protein.
16352477 Mutation in the KRT12 gene is associated with Meesmann corneal dystrophy
16227835 A novel missense mutation (Y429C) in KRT12 lead to MCD in 2 unrelated Taiwanese families.
12543196 Heterozygous Ala137Pro mutation in keratin 12 gene found in Japanese with Meesmann's corneal dystrophy.

AA Sequence

MDLSNNTMSLSVRTPGLSRRLSSQSVIGRPRGMSASSVGSGYGGSAFGFGASCGGGFSAASMFGSSSGFG      1 - 70
GGSGSSMAGGLGAGYGRALGGGSFGGLGMGFGGSPGGGSLGILSGNDGGLLSGSEKETMQNLNDRLASYL     71 - 140
DKVRALEEANTELENKIREWYETRGTGTADASQSDYSKYYPLIEDLRNKIISASIGNAQLLLQIDNARLA    141 - 210
AEDFRMKYENELALRQGVEADINGLRRVLDELTLTRTDLEMQIESLNEELAYMKKNHEDELQSFRVGGPG    211 - 280
EVSVEMDAAPGVDLTRLLNDMRAQYETIAEQNRKDAEAWFIEKSGELRKEISTNTEQLQSSKSEVTDLRR    281 - 350
AFQNLEIELQSQLAMKKSLEDSLAEAEGDYCAQLSQVQQLISNLEAQLLQVRADAERQNVDHQRLLNVKA    351 - 420
RLELEIETYRRLLDGEAQGDGLEESLFVTDSKSQAQSTDSSKDPTKTRKIKTVVQEMVNGEVVSSQVQEI    421 - 490
EELM                                                                      491 - 494
//

Text Mined References (23)

PMID Year Title
24801514 2014 siRNA silencing of the mutant keratin 12 allele in corneal limbal epithelial cells grown from patients with Meesmann's epithelial corneal dystrophy.
24099278 2014 KRT12 mutations and in vivo confocal microscopy in two Japanese families with Meesmann corneal dystrophy.
23569037 2013 Autosomal-dominant Meesmann epithelial corneal dystrophy without an exon mutation in the keratin-3 or keratin-12 gene in a Chinese family.
23233254 2013 Allele-specific siRNA silencing for the common keratin 12 founder mutation in Meesmann epithelial corneal dystrophy.
23222558 2013 Severe Meesmann's epithelial corneal dystrophy phenotype due to a missense mutation in the helix-initiation motif of keratin 12.
21269460 2011 Initial characterization of the human central proteome.
20577595 2010 Identification of a novel mutation in the cornea specific keratin 12 gene causing Meesmann's corneal dystrophy in a German family.
19199708 2009 Proteomic analysis of human parotid gland exosomes by multidimensional protein identification technology (MudPIT).
18661274 A novel mutation in the cornea-specific keratin 12 gene in Meesmann corneal dystrophy.
18245975 2008 A novel mutation as the basis for asymptomatic meesmann dystrophy in a Danish family.
17653038 2007 A novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophy.
16831889 2006 New consensus nomenclature for mammalian keratins.
16352477 2005 Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene.
16227835 2005 Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy.
15148206 2004 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.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12665801 2003 Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.
12543196 Heterozygous Ala137Pro mutation in keratin 12 gene found in Japanese with Meesmann's corneal dystrophy.
10781519 2000 A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy.
10644419 2000 Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene.
9399908 1997 Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy.
9171831 1997 Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy.
8759347 1996 A gene expression profile of human corneal epithelium and the isolation of human keratin 12 cDNA.