Varaico: Literature-Extracted Genetic Variants

Gene:KRT18
Variant:p.R90C
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KRT18

NM_000224.3:p.R90C

Associated Papers

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

A mutation in CCDC91, Homo sapiens coiled-coil domain containing 91 protein, cause autosomal-dominant acrokeratoelastoidosis.

Zhu Y et al.

European Journal of Human Genetics : Ejhg, 2024

38627542 (PubMed )
Supplement: 41431_2024_1573_MOESM3_ESM.xlsx › Sheet1

Posttranslational modifications of keratins and their associated proteins as therapeutic targets in keratin diseases.

Li P et al.

Current Opinion in Cell Biology, 2023

Deacetylation via SIRT2 prevents keratin-mutation-associated injury and keratin aggregation.

Sun J et al.

Jci Insight, 2023

Neuroblastoma arises in early fetal development and its evolutionary duration predicts outcome.

Körber V et al.

Nature Genetics, 2023

36973454 (PubMed )
Supplement: 41588_2023_1332_MOESM4_ESM.xlsx › Supplementary_Table_7

PP2 protects from keratin mutation-associated liver injury and filament disruption via SRC kinase inhibition in male but not female mice.

Li P et al.

Hepatology (baltimore, Md.), 2023

Molecular characterization of sub-frontal recurrent medulloblastomas reveals potential clinical relevance.

Chen Z et al.

Frontiers in Neurology, 2023

37181548 (PubMed )
Supplement: Data_Sheet_2.xlsx › Germline_mutation-case_1

Kinase Inhibition by PKC412 Prevents Epithelial Sheet Damage in Autosomal Dominant Epidermolysis Bullosa Simplex through Keratin and Cell Contact Stabilization.

Rietscher K et al.

The Journal of Investigative Dermatology, 2022

Keratin 8 mutations in transgenic mice predispose to lung injury.

Kim S et al.

Journal of Cell Science, 2021

Integrated genomic and transcriptomic analysis suggests KRT18 mutation and MTAP are key genetic alterations related to the prognosis between astrocytoma and glioblastoma.

Li Z et al.

Annals of Translational Medicine, 2021

Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.

Fontana D et al.

Hemasphere, 2020

33196013 (PubMed )
Supplement: hs9-4-e497-s008.xlsx › Sheet1

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

Critical observations that shaped our understanding of the function(s) of intracellular glycosylation (O-GlcNAc).

Zachara NE

Febs Letters, 2018

Genomic case report of a low grade bladder tumor metastasis to lung.

Van Every MJ et al.

Bmc Urology, 2018

30176882 (PubMed )
Supplement: 12894_2018_386_MOESM5_ESM.xlsx › unique_to_Lung_metastasis

Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review.

Zhou Z et al.

Bmc Medical Genetics, 2018

30097038 (PubMed )
Supplement: 12881_2018_595_MOESM1_ESM.xlsx › Sheet2

Intermediate filament proteins of digestive organs: physiology and pathophysiology.

Omary MB

American Journal of Physiology. Gastrointestinal and Liver Physiology, 2017

High-Throughput Screening for Drugs that Modulate Intermediate Filament Proteins.

Sun J et al.

Methods in Enzymology, 2016

PKC412 normalizes mutation-related keratin filament disruption and hepatic injury in mice by promoting keratin-myosin binding.

Kwan R et al.

Hepatology (baltimore, Md.), 2015

Small molecule targeting of a myosin partner restores an intact keratin cytoskeleton despite presence of a dominant keratin mutation.

Bohnekamp J et al.

Hepatology (baltimore, Md.), 2015

Absence of keratin 8 or 18 promotes antimitochondrial autoantibody formation in aging male mice.

Toivola DM et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2015

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

Mutation of caspase-digestion sites in keratin 18 interferes with filament reorganization, and predisposes to hepatocyte necrosis and loss of membrane integrity.

Weerasinghe SV et al.

Journal of Cell Science, 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

Cytoskeleton keratin regulation of FasR signaling through modulation of actin/ezrin interplay at lipid rafts in hepatocytes.

Gilbert S et al.

Apoptosis : an International Journal on Programmed Cell Death, 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

Cytoskeletal keratin glycosylation protects epithelial tissue from injury.

Ku NO et al.

Nature Cell Biology, 2010

Intermediate filaments take the heat as stress proteins.

Toivola DM et al.

Trends in Cell Biology, 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

Denaturing temperature selection may underestimate keratin mutation detection by DHPLC.

Strnad P et al.

Human Mutation, 2006

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."