Trichothiodystrophy Latest Advances

Find the Latest Research About Trichothiodystrophy

Last Updated: 06/30/2026

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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

Novel RNF113A Variant Underlying X-Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother.

Novel RNF113A Variant Underlying X-Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother.

Journal: American journal of medical genetics. Part A
Published: September 16, 2025

Dupilumab for Trichothiodystrophy-Case Report and Review of the Literature.

Dupilumab for Trichothiodystrophy-Case Report and Review of the Literature.

Journal: Clinical case reports
Published: September 11, 2025

Twins With Pathogenic RNF113A Variant Presenting With Testicular Regression Syndrome.

Twins With Pathogenic RNF113A Variant Presenting With Testicular Regression Syndrome.

Journal: JCEM case reports
Published: August 24, 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

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

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
Showing 1-12 of 332

Last Updated: 06/30/2026