Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue-Reference-Cited by-同舟云学术

Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue

Published:2017-09-11 Issue:23 Volume:26 Page:4689-4698
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Theil Arjan F¹,Mandemaker Imke K¹,van den Akker Emile²,Swagemakers Sigrid M A³,Raams Anja¹,Wüst Tatjana²,Marteijn Jurgen A¹,Giltay Jacques C⁴,Colombijn Richard M⁵,Moog Ute⁶,Kotzaeridou Urania⁷,Ghazvini Mehrnaz⁸,von Lindern Marieke²,Hoeijmakers Jan H J¹,Jaspers Nicolaas G J¹,van der Spek Peter J³,Vermeulen Wim¹

Affiliation:

1. Department of Molecular Genetics, Cancer Genomics Netherlands, Erasmus MC, Rotterdam, The Netherlands

2. Sanquin Research, Department of Hematopoiesis/Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands

3. Department of Bioinformatics, Erasmus MC, Rotterdam, The Netherlands

4. Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands

5. Rivas Zorggroep, Location Beatrixziekenhuis, Gorinchem, The Netherlands

6. Institute of Human Genetics, Heidelberg University, Heidelberg, Germany

7. University Children's Hospital Heidelberg, Heidelberg, Germany

8. Department of Developmental Biology, iPS Core Facility, Erasmus MC, Rotterdam, The Netherlands

Funder

European Research Council

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/26/23/4689/24339233/ddx351.pdf

Reference37 articles.

1. Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations;Faghri;J. Med. Genet,2008

2. Trichothiodystrophy: from basic mechanisms to clinical implications;Stefanini;DNA Repair (Amst),2010

3. TTDA: big impact of a small protein;Theil;Exp. Cell Res,2014

4. TFIIH: when transcription met DNA repair;Compe;Nat Rev Mol. Cell Biol,2012

5. Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder;Vermeulen;Nat. Genet,2000

Cited by 36 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. TFIIH central activity in nucleotide excision repair to prevent disease;DNA Repair;2023-12

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

3. DNA damage and repair: underlying mechanisms leading to microcephaly;Frontiers in Cell and Developmental Biology;2023-10-10

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

5. RNA polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation;Developmental Cell;2023-10