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Select item 63076041.

PIBIDS syndrome in two Brazilian siblings

Kerstin Taniguchi Abagge, Felipe Haupenthal, Gabriella Yamashita Felber, Salmo Raskin

BMJ Case Rep. 2018; 11(1): e223744. Published online 2018 Dec 22. doi: 10.1136/bcr-2017-223744

PMCID:: PMC6307604

Article PDF–747K

Select item 82559982.

Reduced levels of prostaglandin I₂ synthase: a distinctive feature of the cancer-free trichothiodystrophy

Anita Lombardi, Lavinia Arseni, Roberta Carriero, Emmanuel Compe, Elena Botta, Debora Ferri, Martina Uggè, Giuseppe Biamonti, Fiorenzo A. Peverali, Silvia Bione, Donata Orioli

Proc Natl Acad Sci U S A. 2021 Jun 29; 118(26): e2024502118. Published online 2021 Jun 21. doi: 10.1073/pnas.2024502118

PMCID:: PMC8255998

Article PDF–1.0M

Select item 66989363.

Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype

Arjan F. Theil, Elena Botta, Anja Raams, Desiree E.C. Smith, Marisa I. Mendes, Giuseppina Caligiuri, Sarah Giachetti, Silvia Bione, Roberta Carriero, Giordano Liberi, Luca Zardoni, Sigrid M.A. Swagemakers, Gajja S. Salomons, Alain Sarasin, Alan Lehmann, Peter J. van der Spek, Tomoo Ogi, Jan H.J. Hoeijmakers, Wim Vermeulen, Donata Orioli

Am J Hum Genet. 2019 Aug 1; 105(2): 434–440. Published online 2019 Aug 1. doi: 10.1016/j.ajhg.2019.06.017

PMCID:: PMC6698936

Article PDF–976K

Select item 59452624.

Subclassification and Detection of New Markers for the Discrimination of Primary Liver Tumors by Gene Expression Analysis Using Oligonucleotide Arrays

Holger G. Hass, Ulrich Vogel, Michael Scheurlen, Jürgen Jobst

Gut Liver. 2018 May; 12(3): 306–315. Published online 2017 Dec 26. doi: 10.5009/gnl17277

PMCID:: PMC5945262

Article PDF–1.6M

Select item 105753435.

Trichothiodystrophy hair shafts display distinct ultrastructural features

Angeliki-Diotima Ioannidis, Sikandar G. Khan, Deborah Tamura, John J. DiGiovanna, Elizabeth Rizza, Kenneth H. Kraemer, Robert H. Rice

Exp Dermatol. Author manuscript; available in PMC 2023 Oct 13.

Published in final edited form as: Exp Dermatol. 2022 Aug; 31(8): 1270–1275. Published online 2022 Jun 13. doi: 10.1111/exd.14614

PMCID:: PMC10575343

Article PDF–1.0M

Select item 103778406.

Ribosomal Dysfunction Is a Common Pathomechanism in Different Forms of Trichothiodystrophy

Gaojie Zhu, Fatima Khalid, Danhui Zhang, Zhouli Cao, Pallab Maity, Hans A. Kestler, Donata Orioli, Karin Scharffetter-Kochanek, Sebastian Iben

Cells. 2023 Jul; 12(14): 1877. Published online 2023 Jul 17. doi: 10.3390/cells12141877

PMCID:: PMC10377840

Article PDF–3.2M

Select item 103358157.

A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy

Bryce A. Mendelsohn, Daniah T. Beleford, Aya Abu-El-Haija, Norah S. Alsaleh, Zuhair Rahbeeni, Pierre-Marie Martin, Shannon Rego, Alyssa Huang, Gina Capodanno, Joseph T. Shieh, Jessica Van Ziffle, Neil Risch, Fowzan S. Alkuraya, Anne M. Slavotinek

Am J Med Genet A. Author manuscript; available in PMC 2023 Jul 11.

Published in final edited form as: Am J Med Genet A. 2020 Mar; 182(3): 513–520. Published online 2019 Dec 27. doi: 10.1002/ajmg.a.61450

PMCID:: PMC10335815

Article PDF–1.2M

Select item 100262548.

TFIIH mutations can impact on translational fidelity of the ribosome

Fatima Khalid, Tamara Phan, Mingyue Qiang, Pallab Maity, Theresa Lasser, Sebastian Wiese, Marianna Penzo, Marius Alupei, Donata Orioli, Karin Scharffetter-Kochanek, Sebastian Iben

Hum Mol Genet. 2023 Apr 1; 32(7): 1102–1113. Published online 2022 Oct 29. doi: 10.1093/hmg/ddac268

PMCID:: PMC10026254

Article PDF–1.6M

Select item 96692189.

Debilitating hip degeneration in trichothiodystrophy: Association with ERCC2/XPD mutations, osteosclerosis, osteopenia, coxa valga, contractures, and osteonecrosis

John J. DiGiovanna, Grant Randall, Alexandra Edelman, Rina Allawh, Michael Xiong, Deborah Tamura, Sikandar G. Khan, Elizabeth R. H. Rizza, James C. Reynolds, Scott M. Paul, Suvimol C. Hill, Kenneth H. Kraemer

Am J Med Genet A. Author manuscript; available in PMC 2023 Dec 1.

Published in final edited form as: Am J Med Genet A. 2022 Dec; 188(12): 3448–3462. Published online 2022 Sep 14. doi: 10.1002/ajmg.a.62962

PMCID:: PMC9669218

Article PDF–1.6M

Select item 856531210.

Nucleolar TFIIE plays a role in ribosomal biogenesis and performance

Tamara Phan, Pallab Maity, Christina Ludwig, Lisa Streit, Jens Michaelis, Miltiadis Tsesmelis, Karin Scharffetter-Kochanek, Sebastian Iben

Nucleic Acids Res. 2021 Nov 8; 49(19): 11197–11210. Published online 2021 Sep 28. doi: 10.1093/nar/gkab866

PMCID:: PMC8565312

Article PDF–6.8M

Select item 841198611.

Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy

Elena Botta, Arjan F Theil, Anja Raams, Giuseppina Caligiuri, Sarah Giachetti, Silvia Bione, Maria Accadia, Anita Lombardi, Desiree E C Smith, Marisa I Mendes, Sigrid M A Swagemakers, Peter J van der Spek, Gajja S Salomons, Jan H J Hoeijmakers, Dhanya Yesodharan, Sheela Nampoothiri, Tomoo Ogi, Alan R Lehmann, Donata Orioli, Wim Vermeulen

Hum Mol Genet. 2021 Sep 15; 30(18): 1711–1720. Published online 2021 Apr 28. doi: 10.1093/hmg/ddab123

PMCID:: PMC8411986

Article PDF–1003K

Select item 795562112.

Novel ERCC2 variant in trichothiodystrophy infant: the first case report in China

Jian-Dong Chen, Wei-Dong Liao, Ling-Ying Wen, Rong-Hua Zhong

BMC Pediatr. 2021; 21: 123. Published online 2021 Mar 12. doi: 10.1186/s12887-021-02585-4

PMCID:: PMC7955621

Article PDF–1.5M

Select item 706285413.

The X-linked trichothiodystrophy-causing gene RNF113A links the spliceosome to cell survival upon DNA damage

Kateryna Shostak, Zheshen Jiang, Benoit Charloteaux, Alice Mayer, Yvette Habraken, Lars Tharun, Sebastian Klein, Xinyi Xu, Hong Quan Duong, Andrii Vislovukh, Pierre Close, Alexandra Florin, Florian Rambow, Jean-Christophe Marine, Reinhard Büttner, Alain Chariot

Nat Commun. 2020; 11: 1270. Published online 2020 Mar 9. doi: 10.1038/s41467-020-15003-7

PMCID:: PMC7062854

Article PDF–5.0M

Select item 650487614.

TFIIE orchestrates the recruitment of the TFIIH kinase module at promoter before release during transcription

Emmanuel Compe, Carlos M. Genes, Cathy Braun, Frederic Coin, Jean-Marc Egly

Nat Commun. 2019; 10: 2084. Published online 2019 May 7. doi: 10.1038/s41467-019-10131-1

PMCID:: PMC6504876

Article PDF–1.7M

Select item 645805415.

A ubiquitin-dependent signaling axis specific for ALKBH-mediated DNA dealkylation repair

Joshua R. Brickner, Jennifer M. Soll, Patrick M. Lombardi, Cathrine B. Vågbø, Miranda C. Mudge, Clement Oyeniran, Renana Rabe, Jessica Jackson, Meagan E. Sullender, Elyse Blazosky, Andrea K. Byrum, Yu Zhao, Mark A. Corbett, Jozef Gécz, Michael Field, Alessandro Vindigni, Geir Slupphaug, Cynthia Wolberger, Nima Mosammaparast

Nature. Author manuscript; available in PMC 2019 Apr 10.

Published in final edited form as: Nature. 2017 Nov 16; 551(7680): 389–393. Published online 2017 Nov 8. doi: 10.1038/nature24484

PMCID:: PMC6458054

Article PDF–5.9M

Select item 631191916.

A homozygous G insertion in MPLKIP leads to TTDN1 with the hypergonadotropic hypogonadism symptom

Yi-Kun Zhou, Xiao-Chun Yang, Yang Cao, Heng Su, Li Liu, Zhi Liang, Yun Zheng

BMC Med Genet. 2018; 19(Suppl 1): 214. Published online 2018 Dec 31. doi: 10.1186/s12881-018-0723-5

PMCID:: PMC6311919

Article PDF–4.4M

Select item 588611017.

Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue

Arjan F Theil, Imke K Mandemaker, Emile van den Akker, Sigrid M A Swagemakers, Anja Raams, Tatjana Wüst, Jurgen A Marteijn, Jacques C Giltay, Richard M Colombijn, Ute Moog, Urania Kotzaeridou, Mehrnaz Ghazvini, Marieke von Lindern, Jan H J Hoeijmakers, Nicolaas G J Jaspers, Peter J van der Spek, Wim Vermeulen

Hum Mol Genet. 2017 Dec 1; 26(23): 4689–4698. Published online 2017 Sep 11. doi: 10.1093/hmg/ddx351

PMCID:: PMC5886110

Article PDF–1.0M

Select item 483321718.

GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy

Christiane Kuschal, Elena Botta, Donata Orioli, John J. Digiovanna, Sara Seneca, Kathelijn Keymolen, Deborah Tamura, Elizabeth Heller, Sikandar G. Khan, Giuseppina Caligiuri, Manuela Lanzafame, Tiziana Nardo, Roberta Ricotti, Fiorenzo A. Peverali, Robert Stephens, Yongmei Zhao, Alan R. Lehmann, Laura Baranello, David Levens, Kenneth H. Kraemer, Miria Stefanini

Am J Hum Genet. 2016 Apr 7; 98(4): 627–642. Published online 2016 Mar 17. doi: 10.1016/j.ajhg.2016.02.008

PMCID:: PMC4833217

Article PDF–2.8M

Select item 478287619.

Identifying Mutations of the Tetratricopeptide Repeat Domain 37 (TTC37) Gene in Infants With Intractable Diarrhea and a Comparison of Asian and Non-Asian Phenotype and Genotype: A Global Case-report Study of a Well-Defined Syndrome With Immunodeficiency

Wen-I Lee, Jing-Long Huang, Chien-Chang Chen, Ju-Li Lin, Ren-Chin Wu, Tang-Her Jaing, Liang-Shiou Ou

Medicine (Baltimore) 2016 Mar; 95(9): e2918. Published online 2016 Mar 7. doi: 10.1097/MD.0000000000002918

PMCID:: PMC4782876

Article PDF–745K

Select item 475493720.

Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP

Khadim Shah, Raja Hussain Ali, Muhammad Ansar, Kwanghyuk Lee, Muhammad Salman Chishti, Izoduwa Abbe, Biao Li, University of Washington Center for Mendelian Genomics, Joshua D. Smith, Deborah A. Nickerson, Jay Shendure, Paul J. Coucke, Wouter Steyaert, Michael J. Bamshad, Regie Lyn P. Santos-Cortez, Suzanne M. Leal, Wasim Ahmad

BMC Med Genet. 2016; 17: 13. Published online 2016 Feb 16. doi: 10.1186/s12881-016-0275-5

PMCID:: PMC4754937

Article PDF–1.5M

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