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Last Updated: 01/07/2026

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Found 332 publications

Trichothiodystrophy.

Trichothiodystrophy.

Journal: The British journal of dermatology
Published: November 20, 2025

Expanding the landscape of nucleotide excision repair disorders: from discovery to therapy.

Expanding the landscape of nucleotide excision repair disorders: from discovery to therapy.

Journal: The Journal of clinical investigation
Published: November 17, 2025

DBR1 and the RNAopathy Landscape of Trichothiodystrophy.

DBR1 and the RNAopathy Landscape of Trichothiodystrophy.

Journal: The Journal of investigative dermatology
Published: July 14, 2025

Exploring the interaction between nucleotide excision repair pathways and Huntington disease: Implications for neurodegeneration and phenotypic overlap.

Exploring the interaction between nucleotide excision repair pathways and Huntington disease: Implications for neurodegeneration and phenotypic overlap.

Journal: Parkinsonism & related disorders
Published: June 30, 2025

TFIIH-p52ΔC defines a ninth xeroderma pigmentosum complementation-group XP-J and restores TFIIH stability to p8-defective trichothiodystrophy.

TFIIH-p52ΔC defines a ninth xeroderma pigmentosum complementation-group XP-J and restores TFIIH stability to p8-defective trichothiodystrophy.

Journal: The Journal of clinical investigation
Published: May 23, 2025

Correction for Arseni et al., TFIIH-dependent MMP-1 overexpression in trichothiodystrophy leads to extracellular matrix alterations in patient skin.

Correction for Arseni et al., TFIIH-dependent MMP-1 overexpression in trichothiodystrophy leads to extracellular matrix alterations in patient skin.

Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: May 23, 2025

Trichothiodystrophy: Molecular insights and mechanisms of pathogenicity.

Trichothiodystrophy: Molecular insights and mechanisms of pathogenicity.

Journal: Mutation research. Reviews in mutation research
Published: April 17, 2025

Amy and Friends: improving the lives of individuals affected by DNA repair disorders.

Amy and Friends: improving the lives of individuals affected by DNA repair disorders.

Journal: FEBS letters
Published: April 14, 2025

Second Case of Type 9 Non-Photosensitive Trichothiodystrophy Caused by Homozygous Variant in the MARS1 Gene.

Second Case of Type 9 Non-Photosensitive Trichothiodystrophy Caused by Homozygous Variant in the MARS1 Gene.

Journal: Pediatric dermatology
Published: April 13, 2025

RNA Lariat-Debranching Enzyme (DBR1) Variations in Sabinas Brittle Hair Syndrome Form of Trichothiodystrophy: A Trichothiodystrophy-Causing Gene.

RNA Lariat-Debranching Enzyme (DBR1) Variations in Sabinas Brittle Hair Syndrome Form of Trichothiodystrophy: A Trichothiodystrophy-Causing Gene.

Journal: The Journal of investigative dermatology
Published: April 07, 2025

Retinal dystrophy as an unusual manifestation of trichothiodystrophy.

Retinal dystrophy as an unusual manifestation of trichothiodystrophy.

Journal: Retinal cases & brief reports
Published: April 04, 2025

Trichothiodystrophy type 3 with a mutation in the GTF2H5 gene: A case report in Argentina.

Trichothiodystrophy type 3 with a mutation in the GTF2H5 gene: A case report in Argentina.

Journal: Archivos argentinos de pediatria
Published: April 01, 2025
Showing 1-12 of 332

Last Updated: 01/07/2026