Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Identifying amyloid-related diseases by mapping mutations in low-complexity protein domains to pathologies.
Murray KA et al.
Nature Structural & Molecular Biology, 2022
Genetic insight into sick sinus syndrome.
Thorolfsdottir RB et al.
European Heart Journal, 2021
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
Keratin 8 Mutations Were Associated With Susceptibility to Chronic Hepatitis B and Related Progression.
Ye J et al.
The Journal of Infectious Diseases, 2020
Prevalence of genetic variants of keratins 8 and 18 in patients with drug-induced liver injury.
Usachov V et al.
Bmc Medicine, 2015
A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.
Villa F et al.
Immunity & Ageing : I & A, 2014
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
Toward unraveling the complexity of simple epithelial keratins in human disease.
Omary MB et al.
The Journal of Clinical Investigation, 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 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 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
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