Results 71 to 80 of about 2,256,617 (260)

Cockayne syndrome group A protein localizes at centrosomes during mitosis and regulates Cyclin B1 ubiquitination

European Journal of Cell Biology, 2023
Mutations in CSA and CSB proteins cause Cockayne syndrome, a rare genetic neurodevelopment disorder. Alongside their demonstrated roles in DNA repair and transcription, these two proteins have recently been discovered to regulate cytokinesis, the final ...
Elena Paccosi, Giulia Artemi, Silvia Filippi, Alessio Balzerano, Federico Costanzo, Valentina Laghezza-Masci, Silvia Proietti, Luca Proietti-De-Santis   +7 more
doaj   +1 more source

Xeroderma Pigmentosum [PDF]

, 2011
Xeroderma pigmentosum (XP) is defined by extreme sensitivity to sunlight, resulting in sunburn, pigment changes in the skin and a greatly elevated incidence of skin cancers.
Lehmann, Alan R, McGibbon, David, Stefanini, Miria   +2 more
core   +3 more sources

A semi-automated non-radiactive system for measuring recovery of RNA synthesis and unscheduled DNA synthesis using ethynyluracil derivatives [PDF]

, 2010
Nucleotide excision repair (NER) removes the major UV-photolesions from cellular DNA. In humans, compromised NER activity is the cause of several photosensitive diseases, one of which is the skin-cancer predisposition disorder, xeroderma pigmentosum (XP).
Alan R. Lehmann, Arlett, Arlett, Bootsma, Cleaver, Droy, Friedberg, Gillet, Hanawalt, Hashimoto, Jao, Kraemer, Lehmann, Lehmann, Lehmann, Limsirichaikul, Mallery, Masutani, Mayne, Moriwaki, Salic, Shuck, Shunichi Yamashita, Stefanini, Tohda, Tomoo Ogi, Vincent, Yuka Nakazawa   +27 more
core   +3 more sources

UVSSA and USP7, a new couple in transcription-coupled DNA repair [PDF]

, 2013
Transcription-coupled nucleotide excision repair (TC-NER) specifically removes transcription-blocking lesions from our genome. Defects in this pathway are associated with two human disorders: Cockayne syndrome (CS) and UV-sensitive syndrome (UVSS ...
A Kawada, A Meinhart, A Sarasin, AD Bailey, AJ Gool van, AS Balajee, B Nicholson, B Pascucci, BA Donahue, C Troelstra, CP Selby, D Tantin, DA Rockx, DB Bregman, E Citterio, E Meulmeester, E Mizuno, F Brueckner, G Dianov, G Spivak, G Spivak, G Spivak, GE Damsma, GL Dianov, H Faustrup, H Menoni, H Miyauchi-Hashimoto, H Waard de, I Pluijm van der, J Fei, J Tuo, J Villard, JC Newman, JE Cleaver, JE Cleaver, JH Hoeijmakers, Jurgen A Marteijn, K Horibata, L Wei, M D’Errico, M Fousteri, M Fousteri, M Frontini, M Li, M Ljungman, M Ljungman, M Scheibye-Knudsen, MA Nance, MD Wilson, ML Hegde, N Charlet-Berguerand, P Schwertman, PC Hanawalt, Petra Schwertman, PO Osenbroch, PW Doetsch, R Anindya, R Groisman, R Groisman, S Malik, S Misra, S Tornaletti, SV Khoronenkova, SV Khoronenkova, T Itoh, T Itoh, T Itoh, T Itoh, T Nardo, T Stevnsner, T Stevnsner, TG Gorgels, V Boom van den, V Laugel, V Laugel, Wim Vermeulen, X Zhang, Y Fujiwara, Y Fujiwara, Y Kamenisch, Y Nakazawa   +80 more
core   +3 more sources

Adverse Effects of Trichothiodystrophy DNA Repair and Transcription Gene Abnormalities on Human Fetal Development [PDF]

, 2009
The effects of DNA repair and transcription genes in human prenatal life have never been studied. Trichothiodystrophy (TTD) is a rare (affected frequency of 10^-6^) recessive disorder caused by mutations in genes involved in the nucleotide excision ...
Amiran Dzutsev, Caroline Signore, James L. Mills, James Troendle, Roxana Moslehi   +4 more
core   +2 more sources

Anti-tumour compounds illudin S and Irofulven induce DNA lesions ignored by global repair and exclusively processed by transcription- and replication-coupled repair pathways. [PDF]

, 2002
Illudin S is a natural sesquiterpene drug with strong anti-tumour activity. Inside cells, unstable active metabolites of illudin cause the formation of as yet poorly characterised DNA lesions.
Hoeijmakers, J.H.J. (Jan), Jaspers, N.G.J. (Nicolaas), Kelner, M.J. (Michael), McMorris, T.C. (Trevor), Ng, J.M.Y. (Jessica), Raams, A. (Anja), Takeda, S. (Shiunichi), Yamashita, Y.M. (Yukiko)   +7 more
core   +1 more source

DNA repair, DNA replication and human disorders: A personal journey [PDF]

, 2012
I was born in 1946 and grew up in the industrial north-west of England close to the city of Manchester. My parents were German- Jewish refugees, who left Germany fairly early, in 1933.
Alan R. Lehmann, Barnes, Barnes, Bienko, Bohr, Broughton, Burk, Carr, Cleaver, Cordonnier, Daigaku, Domon, Edmunds, Fenech, Fousteri, Gebara, Griffiths, Henderson, Hirano, Hoege, Johnson, Kannouche, Kannouche, Kannouche, Karras, Kleijer, Lee, Lehmann, Lehmann, Lehmann, Lehmann, Lehmann, Lehmann, Lehmann, Lehmann, Lehmann, Lehmann, Lehmann, Lehmann, Lehmann, Lehmann, Lehmann, Lett, Ley, Masutani, Mayne, McDonald, McGrath, Mellon, Murray, Murray, Nduka, Ogi, Okazaki, Palecek, Phipps, Regan, Rupp, Rupp, Saitoh, Savitsky, Schaeffer, Schmickel, Sergeant, Setlow, Stefanini, Strunnikov, Taylor, Taylor, Taylor, Teo, Tissier, Tsukada, van Duin, Venema, Weber   +75 more
core   +1 more source

The ATRX splicing variant c.21-1G>A is asymptomatic

Human Genome Variation, 2022
The ATRX variant c.21-1G>A was detected by an exome analysis of a patient with Cockayne syndrome without alpha thalassemia X-linked intellectual disability syndrome (ATR-XS). In addition, variants in ERCC6 were detected.
Karin Kojima, Takahito Wada, Hiroko Shimbo, Takahiro Ikeda, Eriko F. Jimbo, Hirotomo Saitsu, Naomichi Matsumoto, Takanori Yamagata   +7 more
doaj   +1 more source

Cholestasis in patients with Cockayne syndrome and suggested modified criteria for clinical diagnosis

Orphanet Journal of Rare Diseases, 2011
Background Cockayne syndrome is a rare autosomal recessive neurodegenerative disease characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits, cutaneous photosensitivity; pigmentary retinopathy, cataract ...
Elsobky Ezzat S, Abdel Ghaffar Tawhida Y, Elsayed Solaf M   +2 more
doaj   +1 more source

Genome-wide search for strabismus susceptibility loci. [PDF]

, 2003
The purpose of this study was to search for chromosomal susceptibility loci for comitant strabismus. Genomic DNA was isolated from 10mL blood taken from each member of 30 nuclear families in which 2 or more siblings are affected by either esotropia or ...
Fujiwara, Hirotake, Hasebe, Satoshi, Kitada, Mizue, Matsuo, Toshihiko, Ohtsuki, Hiroshi, Sato, Masako, Yamane, Takashi   +6 more
core   +1 more source