KDM6A is the disease causative gene of type 2 Kabuki Syndrome, a rare multisystem disease; it is also a known cancer driver gene, with multiple somatic mutations found in a few cancer types. In this study, we looked at eleven missense variants in lung squamous cell carcinoma, one of the most common lung cancer subtypes, to see how they affect the KDM6A catalytic mechanisms. We found that they influence the interaction with histone H3 and the exposure of the trimethylated Lys27, which is critical for wild-type physiological function to varying degrees, by altering the conformational transition.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9232545 | PMC |
| http://dx.doi.org/10.1016/j.csbj.2022.06.041 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Polymorphisms, Homocysteine Elevation, and Ischemic Stroke Susceptibility in East Asian and European Populations.
Neurology
February 2025
Department of Integrated Traditional Chinese and Western Medicine, The Third Affiliated Hospital of Soochow University, Changzhou, China.
Background And Objectives: Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme that regulates folate and homocysteine metabolism. Genetic variation in has been implicated in cerebrovascular disease risk, although research in diverse populations is lacking. We thus aimed to investigate the effect of genetically predicted MTHFR activity on risk of ischemic stroke (IS) and its main subtypes using a multiancestry Mendelian randomization (MR) approach.
View Article and Find Full Text PDFDeveloping Topics.
Alzheimers Dement
December 2024
Hurvitz Brain Sciences Program, Sunnybrook Research Institute, Toronto, ON, Canada.
Background: 20-hydroxyeicosatetranoic acid (20-HETE) is a potent vasoconstrictor synthesized by the CYP4F2 enzyme. The CYP4F2 missense variant rs3093105 A>C (W12G) has been implicated in hypertension and stroke, risk factors for Alzheimer's disease (AD), and with decreased 20-HETE activity. To explore the potential role of the CYP4F2/20-HETE pathway and AD, this study investigated associations between the rs3093105 variant and AD phenotypes.
View Article and Find Full Text PDFAlzheimer's Imaging Consortium.
Alzheimers Dement
December 2024
Wisconsin Alzheimer's Disease Research Center, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.
Background: New methods developed to estimate when AD biomarkers became abnormal in individuals have shown considerable heterogeneity in amyloid and tau pathology onset age. This work used polygenic scores (PGS) generated from CSF Aß42 and ptau181 GWAS, individual-level genetic data, and estimated tau onset age (ETOA) to identify genetic influences on tau onset beyond APOE.
Method: Participants from the Alzheimer's Disease Neuroimaging Initiative (ADNI) with genetic data, CSF biomarkers (Aß42 and ptau181), and longitudinal [18F]Flortaucipir (FTP) tau PET were analyzed (N = 462).
Alzheimer's Imaging Consortium.
Alzheimers Dement
December 2024
Stanford University, School of Medicine, Stanford, CA, USA.
Background: Alzheimer's disease (AD) is the most common form of dementia. Neuropathologically, AD stands out as a mixed proteinopathy. Beta-amyloid and tau biomarkers can now add in-vivo support to the AD diagnosis.
View Article and Find Full Text PDFA missense mutation in the gene in a patient with autism spectrum disorder and epilepsy.
J Med Life
November 2024
Department of Radiology and Imagistic Medicine 1, Faculty of Medicine, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania.
The gene (OMIM: 608271) encodes the Microtubule-Actin Cross-Linking Factor 1 protein. Existing medical research shows that genetic mutations in the gene have been associated with neurodevelopmental and neurodegenerative disorders, with variants of unknown significance also linked to autism spectrum disorder (ASD). However, the number of reported autism disorder or epilepsy cases associated with mutations remains limited.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!