Property Summary

NCBI Gene PubMed Count 21
Grant Count 46
R01 Count 10
Funding $78,934,060.6
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 0.000

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
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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.
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