Varaico: Literature-Extracted Genetic Variants

Gene:KRT18
Variant:p.G62C
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KRT18

NM_000224.3:p.G62C

Associated Papers

Keratin 8 mutations in transgenic mice predispose to lung injury.

Kim S et al.

Journal of Cell Science, 2021

Keratins regulate Hsp70-mediated nuclear localization of p38 mitogen-activated protein kinase.

Lee SY et al.

Journal of Cell Science, 2019

Liver disease-associated keratin 8 and 18 mutations modulate keratin acetylation and methylation.

Jang KH et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2019

Prevalence of genetic variants of keratins 8 and 18 in patients with drug-induced liver injury.

Usachov V et al.

Bmc Medicine, 2015

Keratins in health and disease.

Toivola DM et al.

Current Opinion in Cell Biology, 2015

Role of genetics in diagnosis and therapy of acquired liver disease.

Zimmer V et al.

Molecular Aspects of Medicine, 2014

Intestinal cell barrier function in vitro is severely compromised by keratin 8 and 18 mutations identified in patients with inflammatory bowel disease.

Zupancic T et al.

Plos One, 2014

Intermediate filaments of the lung.

Yi H et al.

Histochemistry and Cell Biology, 2013

Keratin 8 variants are infrequent in patients with alcohol-related liver cirrhosis and do not associate with development of hepatocellular carcinoma.

Usachov V et al.

Bmc Gastroenterology, 2012

Non-coding keratin variants associate with liver fibrosis progression in patients with hemochromatosis.

Strnad P et al.

Plos One, 2012

Unique amino acid signatures that are evolutionarily conserved distinguish simple-type, epidermal and hair keratins.

Strnad P et al.

Journal of Cell Science, 2011

Update on the genetics and genomics of PBC.

Juran BD et al.

Journal of Autoimmunity, 2010

Keratin variants predispose to acute liver failure and adverse outcome: race and ethnic associations.

Strnad P et al.

Gastroenterology, 2010

Keratin variants are overrepresented in primary biliary cirrhosis and associate with disease severity.

Zhong B et al.

Hepatology (baltimore, Md.), 2009

Toward unraveling the complexity of simple epithelial keratins in human disease.

Omary MB et al.

The Journal of Clinical Investigation, 2009

The molecular basis of human keratin disorders.

Arin MJ

Human Genetics, 2009

A mutation of keratin 18 within the coil 1A consensus motif causes widespread keratin aggregation but cell type-restricted lethality in mice.

Hesse M et al.

Experimental Cell Research, 2007

Keratin variants associate with progression of fibrosis during chronic hepatitis C infection.

Strnad P et al.

Hepatology (baltimore, Md.), 2006

Denaturing temperature selection may underestimate keratin mutation detection by DHPLC.

Strnad P et al.

Human Mutation, 2006

Emerging functions: diseases and animal models reshape our view of the cytoskeleton.

Magin TM et al.

Experimental Cell Research, 2004

Phenotypes, genotypes and their contribution to understanding keratin function.

Porter RM et al.

Trends in Genetics : Tig, 2003

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."