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Article

Human TSC2 mutant cells exhibit aberrations in early neurodevelopment accompanied by changes in the DNA Methylome.

Human molecular genetics - 6 Apr 2025

Chalkley Mary-Bronwen L, Guerin Lindsey N, Iyer Tenhir, Mallahan Samantha, Nelson Sydney, Sahin Mustafa, Hodges Emily, Ess Kevin C, Ihrie Rebecca A

Abstract excerpt

Tuberous Sclerosis Complex (TSC) is a debilitating developmental disorder characterized by a variety of clinical manifestations. While benign tumors in the heart, lungs, kidney, and brain are all hallmarks of the disease, the most severe symptoms of TSC are often neurological, including seizures, autism, psychiatric disorders, and intellectual disabilities. TSC is caused by loss of function mutations in the TSC1...

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Share to Cell Differentiation
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 39877967
DOI: 10.1093/hmg/ddae199
PMCID: PMC11973902

Genes

TSC2
TSC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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