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Article

Linking Penetrance and Transcription in DYT-THAP1: Insights From a Human iPSC-Derived Cortical Model.

Movement disorders : official journal of the Movement Disorder Society - 1 Jun 2021

Baumann Hauke, Ott Fabian, Weber Joachim, Trilck-Winkler Michaela, Münchau Alexander, Zittel Simone, Kostić Vladimir S, Kaiser Frank J, Klein Christine, Busch Hauke, Seibler Philip, Lohmann Katja

Abstract excerpt

BACKGROUND: The THAP1 gene encodes a transcription factor, and pathogenic variants cause a form of autosomal dominant, isolated dystonia (DYT-THAP1) with reduced penetrance. Factors underlying both reduced penetrance and the disease mechanism of DYT-THAP1 are largely unknown. METHODS: We performed transcriptome analysis on 29 cortical neuronal precursors derived from human-induced pluripotent stem cell lines...

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PMID: 33547842
DOI: 10.1002/mds.28506

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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