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Last Updated: 10/31/2025

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Found 329 publications

TFIIH-p52∆C defines a ninth xeroderma pigmentosum complementation-group XP-J and restores TFIIH stability to p8-defective trichothiodystrophy.

TFIIH-p52∆C defines a ninth xeroderma pigmentosum complementation-group XP-J and restores TFIIH stability to p8-defective trichothiodystrophy.

Journal: The Journal of clinical investigation
Published: September 09, 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

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

Anti-tumorigenic properties by trichothiodystrophy mutations in melanocytic cells.

Anti-tumorigenic properties by trichothiodystrophy mutations in melanocytic cells.

Journal: NAR cancer
Published: March 05, 2025

Ocular features in trichothiodystrophy.

Ocular features in trichothiodystrophy.

Journal: BMJ case reports
Published: February 14, 2025

A Case of Isolated Trichothiodystrophy.

A Case of Isolated Trichothiodystrophy.

Journal: Indian dermatology online journal
Published: January 23, 2025
Showing 1-12 of 329

Last Updated: 10/31/2025