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Select item 42878461.

Pollitt syndrome patients carry mutation in TTDN1

Sigrid M.A. Swagemakers, Nicolaas G.J. Jaspers, Anja Raams, Daphne Heijsman, Wim Vermeulen, Christine Troelstra, Andreas Kremer, Stephen E. Lincoln, Rick Tearle, Jan H.J. Hoeijmakers, Peter J. van der Spek

Meta Gene. 2014 Dec; 2: 616–618. Published online 2014 Aug 30. doi: 10.1016/j.mgene.2014.08.001

PMCID:: PMC4287846

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Select item 16850972.

The physicochemical properties of hair in the BIDS syndrome.

H P Baden, C E Jackson, L Weiss, K Jimbow, L Lee, J Kubilus, R J Gold

Am J Hum Genet. 1976 Sep; 28(5): 514–521.

PMCID:: PMC1685097

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Select item 11964013.

Identification of C7orf11 (TTDN1) Gene Mutations and Genetic Heterogeneity in Nonphotosensitive Trichothiodystrophy

Kazuhiko Nakabayashi, Daniela Amann, Yan Ren, Ulpu Saarialho-Kere, Nili Avidan, Simone Gentles, Jeffrey R. MacDonald, Erik G. Puffenberger, Angela M. Christiano, Amalia Martinez-Mir, Julio C. Salas-Alanis, Renata Rizzo, Esther Vamos, Anja Raams, Clifford Les, Eric Seboun, Nicolaas G. J. Jaspers, Jacques S. Beckmann, Charles E. Jackson, Stephen W. Scherer

Am J Hum Genet. 2005 Mar; 76(3): 510–516. Published online 2005 Jan 11. doi: 10.1086/428141

PMCID:: PMC1196401

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Select item 63119194.

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

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Select item 47549375.

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

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Select item 106308756.

Trichothiodystrophy‐associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation

Arjan F Theil, Alex Pines, Tuğba Kalayci, José M Heredia‐Genestar, Anja Raams, Marion H Rietveld, Sriram Sridharan, Sabine EJ Tanis, Klaas W Mulder, Nesimi Büyükbabani, Birsen Karaman, Zehra O Uyguner, Hülya Kayserili, Jan HJ Hoeijmakers, Hannes Lans, Jeroen AA Demmers, Joris Pothof, Umut Altunoglu, Abdoelwaheb El Ghalbzouri, Wim Vermeulen

EMBO Mol Med. 2023 Nov; 15(11): e17973. Published online 2023 Oct 6. doi: 10.15252/emmm.202317973

PMCID:: PMC10630875

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Select item 105753437.

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

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Select item 104702078.

Activation of human RNA lariat debranching enzyme Dbr1 by binding protein TTDN1 occurs though an intrinsically disordered C-terminal domain

Nathaniel E. Clark, Adam Katolik, Pascal Gallant, Anastasia Welch, Eileen Murphy, Luke Buerer, Christoph Schorl, Nandita Naik, Mandar T. Naik, Stephen P. Holloway, Kristin Cano, Susan T. Weintraub, Katherine M. Howard, P. John Hart, Gerwald Jogl, Masad J. Damha, William G. Fairbrother

J Biol Chem. 2023 Sep; 299(9): 105100. Published online 2023 Jul 26. doi: 10.1016/j.jbc.2023.105100

PMCID:: PMC10470207

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Select item 103778409.

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

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Select item 1033581510.

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

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Select item 1002625411.

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

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Select item 966921812.

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

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Select item 856531213.

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

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Select item 841198614.

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

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Select item 825599815.

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

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Select item 795562116.

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

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Select item 706285417.

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

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Select item 683322318.

Nucleotide excision repair genes shaping embryonic development

Sofia J. Araújo, Isao Kuraoka

Open Biol. 2019 Oct; 9(10): 190166. Published online 2019 Oct 30. doi: 10.1098/rsob.190166

PMCID:: PMC6833223

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Select item 669893619.

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

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Select item 650487620.

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

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