A de novo TOP2B variant associated with global developmental delay and autism spectrum disorder
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1145
Abstract: TOP2B encodes type II topoisomerase beta, which controls topological changes during DNA transcription. TOP2B is expressed in the developing nervous system and is involved in brain development and neural differentiation. Recently, a de novo missense… read more here.
Keywords: top2b variant; disorder; associated global; novo top2b ... See more keywords
Revisiting TOP2B-related phenotypes: Three new cases and literature review.
Sign Up to like & getrecommendations! Published in 2023 at "Clinical genetics"
DOI: 10.1111/cge.14341
Abstract: DNA Topoisomerase IIβ (TOP2B) acts on DNA topology during transcription and has a critical role in neural development. Heterozygous pathogenic changes in its encoding gene, TOP2B (MIM *126431), has been linked with three overlapping phenotypes… read more here.
Keywords: revisiting top2b; phenotypes three; three new; top2b related ... See more keywords
TOP2B Enzymatic Activity on Promoters and Introns Modulates Multiple Oncogenes in Human Gliomas
Sign Up to like & getrecommendations! Published in 2021 at "Clinical Cancer Research"
DOI: 10.1158/1078-0432.ccr-21-0312
Abstract: Purpose: The epigenetic mechanisms involved in transcriptional regulation leading to malignant phenotype in gliomas remains poorly understood. Topoisomerase IIB (TOP2B), an enzyme that decoils and releases torsional forces in DNA, is overexpressed in a subset… read more here.
Keywords: human gliomas; oncogenes human; glioma; multiple oncogenes ... See more keywords
Topoisomerase 2B Decrease Results in Diastolic Dysfunction via p53 and Akt: A Novel Pathway
Sign Up to like & getrecommendations! Published in 2020 at "Frontiers in Cardiovascular Medicine"
DOI: 10.3389/fcvm.2020.594123
Abstract: Diastolic dysfunction is condition of a stiff ventricle and a function of aging. It causes significant cardiovascular mortality and morbidity, and in fact, three million Americans are currently suffering from this condition. To date, all… read more here.
Keywords: dysfunction; top2b; topoisomerase decrease; human diastolic ... See more keywords