Associated Papers
Uncovering functional insights into human pathogenic variants in CDK19 using Drosophila models.
Grewal KS et al.
Human Molecular Genetics, 2025
Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.
Mok JW et al.
Genome Research, 2025
40467338 (PubMed )
Supplement: Supplemental_Table_S1.xlsx › Supplemental_Table1
Cdk8/CDK19 promotes mitochondrial fission through Drp1 phosphorylation and can phenotypically suppress pink1 deficiency in Drosophila.
Liao JZ et al.
Nature Communications, 2024
CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants.
Zarate YA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
A novel variant of CDK19 causes a severe neurodevelopmental disorder with infantile spasms.
Yang S et al.
Cold Spring Harbor Molecular Case Studies, 2021
De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy.
Chung HL et al.
American Journal of Human Genetics, 2020
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