Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction

Background Kabuki syndrome is a genetic disorder that affects several body systems and presents with variations in symptoms and severity. The syndrome is named for a common phenotype of faces resembling stage makeup used in a Japanese traditional theatrical art named kabuki . The most frequent cause...

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Bibliographic Details
Published in:	Orphanet journal of rare diseases Vol. 16; no. 1; pp. 66 - 15
Main Authors:	Chi, Young-In, Stodola, Timothy J., De Assuncao, Thiago M., Leverence, Elise N., Tripathi, Swarnendu, Dsouza, Nikita R., Mathison, Angela J., Basel, Donald G., Volkman, Brian F., Smith, Brian C., Lomberk, Gwen, Zimmermann, Michael T., Urrutia, Raul
Format:	Journal Article
Language:	English
Published:	London BioMed Central 05.02.2021 BioMed Central Ltd Springer Nature B.V BMC
Subjects:	Abnormalities, Multiple Amino acid sequence Bioinformatics Catalysis Causes of Congenital defects Crystal structure Development and progression Enzymes Epigenetic regulators Face - abnormalities Genetic aspects Genetic disorders Genetic variation Genomic variation Health aspects Hematologic Diseases - genetics Histone demethylase Histone Demethylases - genetics Histones Human Genetics Humans Kabuki syndrome KDM6A Medical research Medicine Medicine & Public Health Medicine, Experimental Molecular dynamics Molecular Dynamics Simulation Mutation Mutational impact analysis Oxidoreductases Peptides Pharmacology/Toxicology Phenotypes Principal components analysis Proteins Rare diseases Rare systemic diseases Simulation Vestibular Diseases - genetics United States Mutational impact analysis Epigenetic regulators Genomic variation Molecular dynamics Histone demethylase Kabuki syndrome Protein structure KDM6A
ISSN:	1750-1172, 1750-1172
Online Access:	Get full text
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