Varaico: Literature-Extracted Genetic Variants

Gene:KRT8
Variant:p.S21T
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KRT8

NM_002273.4:p.S21T

Associated Papers

Deletions in Glial Fibrillary Acidic Protein Leading to Alterations in Intermediate Filament Assembly and Network Formation.

Lin NH et al.

International Journal of Molecular Sciences, 2025

β-Cell keratin 8 maintains islet mechanical integrity, mitochondrial ultrastructure, and β-cell glucose transporter 2 plasma membrane targeting.

Baghestani S et al.

American Journal of Physiology. Cell Physiology, 2024

How do disordered head domains assist in the assembly of intermediate filaments?

Zhou X et al.

Current Opinion in Cell Biology, 2023

Identifying amyloid-related diseases by mapping mutations in low-complexity protein domains to pathologies.

Murray KA et al.

Nature Structural & Molecular Biology, 2022

Bioinformatic identification of previously unrecognized amyloidogenic proteins.

Rosenberg GM et al.

The Journal of Biological Chemistry, 2022

Keratin 8 mutations in transgenic mice predispose to lung injury.

Kim S et al.

Journal of Cell Science, 2021

Keratin 8 Mutations Were Associated With Susceptibility to Chronic Hepatitis B and Related Progression.

Ye J et al.

The Journal of Infectious Diseases, 2020

Mutant Proteomics of Lung Adenocarcinomas Harboring Different EGFR Mutations.

Nishimura T et al.

Frontiers in Oncology, 2020

32983988 (PubMed )
Supplement: Data_Sheet_2.xlsx › AZ025

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

Lee SY et al.

Journal of Cell Science, 2019

Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cheng H et al.

Cell Reports, 2018

30380422 (PubMed )
Supplement: NIHMS1511993-supplement-6.xlsx › Table_S5

Trans-heterozygosity for mutations enhances the risk of recurrent/chronic pancreatitis in patients with Cystic Fibrosis.

Sofia VM et al.

Molecular Medicine (cambridge, Mass.), 2018

Keratin impact on PKCδ- and ASMase-mediated regulation of hepatocyte lipid raft size - implication for FasR-associated apoptosis.

Gilbert S et al.

Journal of Cell Science, 2016

Human keratin 8 variants promote mouse acetaminophen hepatotoxicity coupled with c-jun amino-terminal kinase activation and protein adduct formation.

Guldiken N et al.

Hepatology (baltimore, Md.), 2015

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

Usachov V et al.

Bmc Medicine, 2015

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

Predisposition to apoptosis in keratin 8-null liver is related to inactivation of NF-κB and SAPKs but not decreased c-Flip.

Lee J et al.

Biology Open, 2013

Glucose and SIRT2 reciprocally mediate the regulation of keratin 8 by lysine acetylation.

Snider NT et al.

The Journal of 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

Keratin 8 phosphorylation regulates its transamidation and hepatocyte Mallory-Denk body formation.

Kwan R et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2012

Keratin 8 variants are associated with cryptogenic hepatitis.

Zierden M et al.

Virchows Archiv : an International Journal of Pathology, 2012

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

Strnad P et al.

Plos One, 2012

Keratin hypersumoylation alters filament dynamics and is a marker for human liver disease and keratin mutation.

Snider NT et al.

The Journal of Biological Chemistry, 2011

Candidate single nucleotide polymorphism markers for arsenic responsiveness of protein targets.

Isokpehi RD et al.

Bioinformatics and Biology Insights, 2010

20981267 (PubMed )
Supplement: BBI-4-supplementary.xls › SNPs3D_-_Substitutions_to_Cys

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

Genetics of pancreatitis: a guide for clinicians.

Treiber M et al.

Current Gastroenterology Reports, 2008

Analysis of keratin polypeptides 8 and 19 variants in inflammatory bowel disease.

Tao GZ et al.

Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association, 2007

Keratin 8 sequence variants in patients with pancreatitis and pancreatic cancer.

Treiber M et al.

Journal of Molecular Medicine (berlin, Germany), 2006

Mutation of keratin 8 in patients with liver disease.

Schöniger-Hekele M et al.

Journal of Gastroenterology and Hepatology, 2006

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

Keratin 8 mutations are not associated with familial, sporadic and alcoholic pancreatitis in a population from the United States.

Schneider A et al.

Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2006

Keratin mutations and intestinal pathology.

Owens DW et al.

The Journal of Pathology, 2004

Keratin 8 Y54H and G62C mutations are not associated with liver disease.

Halangk J et al.

Journal of Medical Genetics, 2004

Absence of an association of the IBD2 locus gene keratin 8 and inflammatory bowel disease in a large genetic association study.

de Jong DJ et al.

Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 2004

Keratin 8 Y54H and G62C mutations are not associated with inflammatory bowel disease.

Büning C et al.

Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 2004

Human keratin 8 mutations that disturb filament assembly observed in inflammatory bowel disease patients.

Owens DW et al.

Journal of Cell Science, 2004

A frequent keratin 8 p.L227L polymorphism, but no point mutations in keratin 8 and 18 genes, in patients with various liver disorders.

Hesse M et al.

Journal of Medical Genetics, 2004

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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."