Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Genetic insight into sick sinus syndrome.
Thorolfsdottir RB et al.
European Heart Journal, 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
iPSC modeling of severe aplastic anemia reveals impaired differentiation and telomere shortening in blood progenitors.
Melguizo-Sanchis D et al.
Cell Death & Disease, 2018
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M et al.
Nature, 2016
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
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
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
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 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
Human keratin 8 mutations that disturb filament assembly observed in inflammatory bowel disease patients.
Owens DW et al.
Journal of Cell Science, 2004