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Rare Diseases Volume 1, 2013 - Issue 1

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Short Communication

Xeroderma Pigmentosum-Trichothiodystrophy overlap patient with novel XPD/ERCC2 mutation

Henrik H. Kralund Department of Dermatology and Allergy Centre; Odense University Hospital; Odense, DenmarkCorrespondence[email protected]

Lilian Ousager Department of Clinical and Medical Genetics; Odense University Hospital; Odense, Denmark

Nicolaas G. Jaspers Department of Genetics; Erasmus Medical Center; Rotterdam, Netherlands

Anja Raams Department of Genetics; Erasmus Medical Center; Rotterdam, Netherlands

Erling B. Pedersen Departments of Medical Research and Medicine; University of Aarhus and Holstebro Hospital; Aarhus, Denmark

Else Gade Department of Ophthalmology; Odense University Hospital; Odense, Denmark

Anette Bygum Department of Dermatology and Allergy Centre; Odense University Hospital; Odense, Denmark

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Article: e24932 | Received 15 Feb 2013, Accepted 03 May 2013, Published online: 06 May 2013

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https://doi.org/10.4161/rdis.24932

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Elif Citak, Serkan Feyyaz Yalin, Mehmet Riza Altiparmak & Mehmet Guven. (2023) Investigation of XPD, miR-145 and miR-770 expression in patients with end-stage renal disease. Molecular Biology Reports 50:8, pages 6843-6850.
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Juan I. Garaycoechea, Catherine Quinlan & Martijn S. Luijsterburg. (2023) Pathological consequences of DNA damage in the kidney. Nature Reviews Nephrology 19:4, pages 229-243.
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Katja Apelt, Susan M. White, Hyun Suk Kim, Jung-Eun Yeo, Angela Kragten, Annelotte P. Wondergem, Martin A. Rooimans, Román González-Prieto, Wouter W. Wiegant, Sebastian Lunke, Daniel Flanagan, Sarah Pantaleo, Catherine Quinlan, Winita Hardikar, Haico van Attikum, Alfred C.O. Vertegaal, Brian T. Wilson, Rob M.F. Wolthuis, Orlando D. Schärer & Martijn S. Luijsterburg. (2021) ERCC1 mutations impede DNA damage repair and cause liver and kidney dysfunction in patients . Journal of Experimental Medicine 218:3.
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Susan E. Tsutakawa, Chi-Lin Tsai, Chunli Yan, Amer Bralić, Walter J. Chazin, Samir M. Hamdan, Orlando D. Schärer, Ivaylo Ivanov & John A. Tainer. (2020) Envisioning how the prototypic molecular machine TFIIH functions in transcription initiation and DNA repair. DNA Repair 96, pages 102972.
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Basil J Greber, Daniel B Toso, Jie Fang & Eva Nogales. (2019) The complete structure of the human TFIIH core complex. eLife 8.
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Jia Zhang, Ruhong Cheng, Xia Yu, Zhonghui Sun, Ming Li & Zhirong Yao. (2017) Expansion of the genotypic and phenotypic spectrum of xeroderma pigmentosum in Chinese population. Photodermatology, Photoimmunology & Photomedicine 33:1, pages 58-63.
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Ben Pode-Shakked, Dina Marek-Yagel, Shoshana Greenberger, Naomi Pode-Shakked, Elon Pras, Aviv Barzilai, Saeed Yassin, Yechezkel Sidi & Yair Anikster. (2015) A novel mutation in the C7orf11 gene causes nonphotosensitive trichothiodystrophy in a multiplex highly consanguineous kindred. European Journal of Medical Genetics 58:12, pages 685-688.
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Xinliang Sun, Hongbo Chen, Zaian Deng, Bo Hu, Hui Luo, Xiaobin Zeng, Liqiao Han, Guoping Cai & Lan Ma. (2015) The Warsaw breakage syndrome-related protein DDX11 is required for ribosomal RNA synthesis and embryonic development. Human Molecular Genetics 24:17, pages 4901-4915.
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Nikola Bowden, Natalie Beveridge, Katie Ashton, Katherine Baines & Rodney Scott. (2015) Understanding Xeroderma Pigmentosum Complementation Groups Using Gene Expression Profiling after UV-Light Exposure. International Journal of Molecular Sciences 16:7, pages 15985-15996.
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Xeroderma Pigmentosum-Trichothiodystrophy overlap patient with novel XPD/ERCC2 mutation

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Xeroderma Pigmentosum-Trichothiodystrophy overlap patient with novel XPD/ERCC2 mutation

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