TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo‐sensitive trichothiodystrophy-Reference-Cited by-同舟云学术

TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo‐sensitive trichothiodystrophy

Published:2022-11-02 Issue:12 Volume:43 Page:2222-2233
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Lanzafame Manuela¹,Nardo Tiziana¹,Ricotti Roberta¹,Pantaleoni Chiara²,D'Arrigo Stefano²,Stanzial Franco³,Benedicenti Francesco³,Thomas Mary A.⁴,Stefanini Miria¹,Orioli Donata¹,Botta Elena¹^ORCID

Affiliation:

1. Istituto di Genetica Molecolare “Luigi Luca Cavalli‐Sforza” (IGM) CNR Pavia Italy

2. Dipartimento Neuroscienze Pediatriche Fondazione IRCCS Istituto Neurologico Carlo Besta Milano Italy

3. Genetic Counseling Service, Department of Pediatrics Regional Hospital of Bolzano Bolzano Italy

4. Department of Medical Genetics, Cumming, School of Medicine University of Calgary Calgary Alberta Canada

Funder

Associazione Italiana per la Ricerca sul Cancro

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24488

Reference44 articles.

1. TFIIH-dependent MMP-1 overexpression in trichothiodystrophy leads to extracellular matrix alterations in patient skin

2. Central nervous system dysmyelination in PIBI(D)S syndrome: a further case

3. A Mouse Model for the Basal Transcription/DNA Repair Syndrome Trichothiodystrophy

4. Protein stabilization by salt bridges: concepts, experimental approaches and clarification of some misunderstandings

5. Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy

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1. TFIIH central activity in nucleotide excision repair to prevent disease;DNA Repair;2023-12

2. Trichothiodystrophy‐associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation;EMBO Molecular Medicine;2023-10-06