Mutations in the TTDN1 Gene Are Associated with a Distinct Trichothiodystrophy Phenotype-Reference-Cited by-同舟云学术

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Mutations in the TTDN1 Gene Are Associated with a Distinct Trichothiodystrophy Phenotype

Published:2015-03 Issue:3 Volume:135 Page:734-741
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Heller Elizabeth R.,Khan Sikandar G.,Kuschal Christiane,Tamura Deborah,DiGiovanna John J.,Kraemer Kenneth H.

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference32 articles.

1. Growth and nutrition in children with trichothiodystrophy;Atkinson;J Pediatr Gastroenterol Nutr,2014

2. The physicochemical properties of hair in the BIDS syndrome;Baden;Am J Hum Genet,1976

3. Defining a comprehensive verotype using electronic health records for personalized medicine;Boland;J Am Med Inform Assoc,2013

4. Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships;Botta;Hum Mutat,2007

5. Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy;Boyle;Hum Mutat,2008

Cited by 33 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The face of Non‐photosensitive trichothiodystrophy phenotypic spectrum: A subsequent study on paediatric population;Molecular Genetics & Genomic Medicine;2024-08

2. Expanding the phenotype of GTF2E2‐associated trichothiodystrophy;Journal of the European Academy of Dermatology and Venereology;2023-10-16

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

4. Activation of human RNA lariat debranching enzyme Dbr1 by binding protein TTDN1 occurs though an intrinsically disordered C-terminal domain;Journal of Biological Chemistry;2023-09

5. Ribosomal Dysfunction Is a Common Pathomechanism in Different Forms of Trichothiodystrophy;Cells;2023-07-17

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