Trichothiodystrophy Latest Advances

The Role of Transcription-Coupled Nucleotide Excision Repair (TC-NER) during Mammalian Forebrain Development.

Journal: Developmental biology

Published: December 31, 2025

Trichothiodystrophy.

Journal: The British journal of dermatology

Published: November 20, 2025

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.

Journal: American journal of medical genetics. Part A

Published: September 16, 2025

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.

Journal: JCEM case reports

Published: August 24, 2025

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.

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.

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.

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.

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.

Journal: The Journal of investigative dermatology

Published: April 07, 2025

Trichothiodystrophy Latest Advances

Find the Latest Research About Trichothiodystrophy

The Role of Transcription-Coupled Nucleotide Excision Repair (TC-NER) during Mammalian Forebrain Development.

The Role of Transcription-Coupled Nucleotide Excision Repair (TC-NER) during Mammalian Forebrain Development.

Trichothiodystrophy.

Trichothiodystrophy.

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

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

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.

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

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

Twins With Pathogenic RNF113A Variant Presenting With Testicular Regression Syndrome.

Twins With Pathogenic RNF113A Variant Presenting With Testicular Regression Syndrome.

DBR1 and the RNAopathy Landscape of Trichothiodystrophy.

DBR1 and the RNAopathy Landscape of Trichothiodystrophy.

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.

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.

Trichothiodystrophy: Molecular insights and mechanisms of pathogenicity.

Trichothiodystrophy: Molecular insights and mechanisms of pathogenicity.

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.

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.