Trichothiodystrophy: from basic mechanisms to clinical implications

DNA Repair
Miria StefaniniD Orioli

Abstract

Trichothiodystrophy (TTD) is an autosomal recessive disorder with symptoms affecting several tissues and organs. The most relevant features are hair abnormalities, physical and mental retardation, ichthyosis, signs of premature aging and cutaneous photosensitivity. The clinical spectrum of TTD varies widely from patients with only brittle, fragile hair to patients with the most severe neuroectodermal symptoms. To date, four genes have been identified as responsible for TTD: XPD, XPB, p8/TTDA, and TTDN1. Whereas the function of TTDN1 is still unknown, the former three genes encode subunits of TFIIH, the multiprotein complex involved in basal and activated transcription and in nucleotide excision repair (NER). Ongoing investigations on TTD are elucidating not only the pathogenesis of the disease, which appears to be mainly related to transcriptional impairment, but also the modalities of NER and transcription in human cells and how TFIIH operates in these two fundamental cellular processes.

References

May 13, 1993·Nature·D Bootsma, J H Hoeijmakers
Aug 5, 1997·Proceedings of the National Academy of Sciences of the United States of America·E M TaylorA R Lehmann
Feb 28, 1998·Genes & Development·S LarochelleB Suter
Jan 25, 2000·The Journal of Biological Chemistry·J BradsherJ M Egly
May 4, 2001·Trends in Genetics : TIG·E Bergmann, J M Egly
Apr 16, 2002·Science·Jan de BoerJan H J Hoeijmakers
May 23, 2002·Cell·Sebastian IbenIngrid Grummt
Aug 27, 2002·Current Biology : CB·Alan Lehmann
Oct 24, 2002·Human Molecular Genetics·Elena BottaMiria Stefanini
Nov 28, 2002·Molecular Cell·Deborah HoogstratenAdriaan B Houtsmuller
Oct 11, 2003·Trends in Genetics : TIG·Mario Zurita, Carlos Merino
Jun 29, 2004·Nature Genetics·Jeffrey A RanishRuedi Aebersold
Apr 20, 2005·Molecular Cell·Yuichiro TakagiRoger D Kornberg
Jul 1, 2005·Molecular and Cellular Biology·Emmanuel CompeJean-Marc Egly
Jan 24, 2006·Molecular Cell·Frédéric CoinJean-Marc Egly
Oct 6, 2006·PLoS Biology·Jaan-Olle AndressooJames R Mitchell
Nov 8, 2006·Proceedings of the National Academy of Sciences of the United States of America·Federica MariniMarco Muzi Falconi
Feb 16, 2007·The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences·Aart A van ApeldoornClemens A van Blitterswijk
Feb 21, 2007·Cellular and Molecular Life Sciences : CMLS·Y ZhangH-B Shu
Oct 24, 2007·Nature Neuroscience·Emmanuel CompeJean-Marc Egly
Jan 15, 2008·Trends in Genetics : TIG·Björn SchumacherJan H J Hoeijmakers

❮ Previous
Next ❯

Citations

May 11, 2012·Nature Reviews. Molecular Cell Biology·Emmanuel Compe, Jean-Marc Egly
Feb 6, 2013·Proceedings of the National Academy of Sciences of the United States of America·Wassim AbdulrahmanArnaud Poterszman
Nov 28, 2012·International Journal of Trichology·Juan FerrandoJulio C Salas-Alanis
Apr 16, 2014·Comparative Biochemistry and Physiology. Part B, Biochemistry & Molecular Biology·I A L SilvaN Conceição
Jan 22, 2015·Proceedings of the National Academy of Sciences of the United States of America·Lavinia ArseniDonata Orioli
Feb 3, 2015·Progress in Biophysics and Molecular Biology·Li Fan, Kevin T DuPrez
Apr 18, 2013·Mechanisms of Ageing and Development·Dick JaarsmaJan H J Hoeijmakers
Nov 20, 2012·Journal of the American Academy of Dermatology·Rattanavalai ChantornTor A Shwayder
Oct 1, 2011·Ophthalmology·Brian P BrooksKenneth H Kraemer
Jun 29, 2011·Mechanisms of Ageing and Development·Laura J NiedernhoferKenneth H Kraemer
Jan 22, 2015·Meta Gene·Sigrid M A SwagemakersPeter J van der Spek
Oct 8, 2014·The Journal of Investigative Dermatology·Elizabeth R HellerKenneth H Kraemer
Oct 9, 2012·The Journal of Dermatology·Davut PehlivanNicolaas G J Jaspers
Mar 24, 2016·Orphanet Journal of Rare Diseases·Nadège CalmelsVincent Laugel
Nov 21, 2015·Pediatric Dermatology·Trisha S DasguptaCarrie Ann Cusack
Mar 25, 2014·Current Opinion in Genetics & Development·Gabriel Balmus, Rebecca E McIntyre
Jul 22, 2014·Ageing Research Reviews·Andrea LauriMaurizio C Capogrossi
Oct 2, 2012·Photochemical & Photobiological Sciences : Official Journal of the European Photochemistry Association and the European Society for Photobiology·F Kiss, A V Anstey
Mar 10, 2016·British Journal of Clinical Pharmacology·Camilla EvangelistiGiovanna Lattanzi
Jun 28, 2015·Journal of Child Neurology·Syed H Shabbir
Apr 26, 2014·Genetics and Molecular Biology·Carlos Fm Menck, Veridiana Munford
Jun 12, 2014·Journal of Pediatric Gastroenterology and Nutrition·Emily C AtkinsonColleen Hadigan
May 9, 2018·International Journal of Molecular Sciences·Lavinia ArseniDonata Orioli
Oct 21, 2017·The Journal of Cell Biology·Leonid Serebryannyy, Tom Misteli
Oct 15, 2010·Journal of Human Genetics·Touhei UsudaTakehiro Kobayashi
Mar 29, 2019·Clinical Genetics·Debora FerriElena Botta
Jan 23, 2020·International Journal of Molecular Sciences·Mario Zurita, Juan Manuel Murillo-Maldonado
Nov 13, 2018·BioMed Research International·Shan-Shan LuoXiao-Dong Zhu
Apr 12, 2018·Anais Brasileiros De Dermatologia·Luciana Baptista PereiraVanessa Barreto Rocha
Dec 24, 2018·BMJ Case Reports·Kerstin Taniguchi AbaggeSalmo Raskin
May 15, 2018·The Journal of Pathology·Vassilis G GorgoulisIoannis P Trougakos
Jul 10, 2019·Pediatric Dermatology·Emily B Lund, Sarah L Stein
Oct 7, 2020·International Journal of Molecular Sciences·Mateusz KciukRenata Kontek
Jul 22, 2019·DNA Repair·Joshua R BricknerNima Mosammaparast
Jan 1, 2018·Anais Brasileiros De Dermatologia·Luciana Baptista PereiraNeusa Yuriko Sakai Valente
Mar 7, 2021·International Journal of Molecular Sciences·Dulce Lima CunhaHans C Hennies

❮ Previous
Next ❯

Related Concepts

Related Feeds

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.

Cardiac Cachexia

Cardiac cachexia is a syndrome associated with the progressive loss of muscle and fat mass. It most commonly affects patients with heart failure and can significantly decrease the quality of life and survival in these patients. Here is the latest research on cardiac cachexia.

Cachexia & Brown Fat

Cachexia is a condition associated with progressive weight loss due to severe illness. In cancer patients, it is proposed to occur as a result of tumor-induced energy wasting. Several proteins have been implicated in browning and depletion of white adipose tissue. Here is the latest research on cachexia and brown fat.

Cancer Epigenetics Chromatin Complexes (Keystone)

Epigenetic changes are present and dysregulated in many cancers, including DNA methylation, non-coding RNA segments and post-translational protein modifications. The epigenetic changes may or may not provide advantages for the cancer cells. This feed focuses on chromatin complexes and their role in cancer epigenetics.

Cancer Epigenetics and Chromatin (Keystone)

Epigenetic changes are present and dysregulated in many cancers, including DNA methylation, non-coding RNA segments and post-translational protein modifications. The epigenetic changes may or may not provide advantages for the cancer cells. This feed focuses on chromatin and its role in cancer epigenetics please follow this feed to learn more.

Cell Checkpoints & Regulators

Cell cycle checkpoints are a series of complex checkpoint mechanisms that detect DNA abnormalities and ensure that DNA replication and repair are complete before cell division. They are primarily regulated by cyclins, cyclin-dependent kinases, and the anaphase-promoting complex/cyclosome. Here is the latest research.