Results 41 to 50 of about 10,371 (225)

Mitochondrial reactive oxygen species are scavenged by Cockayne syndrome B protein in human fibroblasts without nuclear DNA damage [PDF]

, 2014
Cockayne syndrome (CS) is a human DNA repair-deficient disease that involves transcription coupled repair (TCR), in which three gene products, Cockayne syndrome A (CSA), Cockayne syndrome B (CSB), and ultraviolet stimulated scaffold protein A (UVSSA ...
Bezrookove, Vladimir, Brennan-Minnella, Angela M., Chen, Junjie, Chen, Yih-wen, Chou, Kai-ming, Cleaver, James E., Fong, Ka-wing, Revet, Ingrid, Swanson, Raymond A.   +8 more
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DNA repair: Disorders [PDF]

, 2010
No description ...
Bose, Burg, Caldecott, Chu, Digweed, Fernandez-Capetillo, Fousteri, Fousteri, Friedberg, Gudmundsdottir, Hashimoto, Hoeijmakers, Jiricny, Kraemer, Lavin, Lehmann, Lieber, Ma, Masutani, McCulloch, Meindl, Moldovan, Moshous, Nance, Nouspikel, O'Driscoll, O'Driscoll, O'Driscoll, O'Driscoll, Rass, Stefanini, Stewart, Stracker, Taylor, Vaz, Wu, Zlatanou   +36 more
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Cockayne Syndrome as a Rare Cause of Hemiplegia: Review of the Literature Accompanied by a Case Report

Türk Nöroloji Dergisi, 2019
Cockayne syndrome is a rare genetic disease that presents with growth retardation, premature aging, retinal and generalized neurologic abnormalities.
Beşir Şahin İnceer, Onur Bulut, Yılmaz Savaş   +2 more
doaj   +1 more source

DNA strand break repair and neurodegeneration. [PDF]

, 2013
A number of DNA repair disorders are known to cause neurological problems. These disorders can be broadly characterised into early developmental, mid-to-late developmental or progressive.
Abraham, Ahel, Alano, Alderton, Alter, Barbi, Barlow, Barnes, Bayatti, Bendixen, Bohr, Bootsma, Breslin, Brown, Buck, Buis, Caldecott, Caldecott, Caldecott, Cantoni, Chappell, Clements, Cortes Ledesma, Date, de Boer, de Boer, de Klein, de Vries, Delaval, Derheimer, Donahue, Durocher, El-Khamisy, El-Khamisy, El-Khamisy, Eliasson, Fattah, Frank, Frank, Frappart, Gao, Gao, Gatz, Goodship, Griffith, Gruber, Gueven, Henning, Hoeijmakers, Hoeijmakers, Jackson, Jeggo, Jilani, Kathe, Katyal, Keith W. Caldecott, Koch, Kuzminov, Lakin, Lakshmipathy, LaMonica, Le Ber, Lee, Lee, Lee, Lehmann, Letinic, Li, Licht, Lieber, Lindahl, Ljungman, Ljungman, Loizou, Luo, Mallery, Mao, Matsuura, Mayne, McKinnon, McKinnon, Mellon, Mischo, Mitchell, Moreira, Moreira, Moreno-Herrero, Morris, Moynahan, Mu, Murai, Murai, Murga, Nakane, Nance, Nilsen, Nussenzweig, Ogi, Okano, Orii, Osterod, Ouyang, O’Driscoll, O’Driscoll, O’Driscoll, Paula-Barbosa, Paull, Puebla-Osorio, Resnick, Revet, Reynolds, Reynolds, Rouse, Sanai, Schumacher, Shechter, Shen, Shiloh, Shull, Sidman, Skourti-Stathaki, Sleeth, Sonoda, Stefanini, Stewart, Stiff, Stuart L. Rulten, Sugasawa, Syljuasen, Takashima, Taylor, Tebbs, Theunissen, Thorslund, Uziel, van der Burg, van der Horst, Varon, Verhagen, Vinters, Virag, Vrouwe, Waltes, Weeda, Weterings, Whitehouse, Williams, Williams, Xu, Yu, Yu, Yuce, Zecevic, Zecevic, Zhou, Zhou, Zhu, Zou   +157 more
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ATP-dependent chromatin remodeling by Cockayne syndrome protein B and NAP1-like histone chaperones is required for efficient transcription-coupled DNA repair. [PDF]

PLoS Genetics, 2013
The Cockayne syndrome complementation group B (CSB) protein is essential for transcription-coupled DNA repair, and mutations in CSB are associated with Cockayne syndrome--a devastating disease with complex clinical features, including the appearance of ...
Iltaeg Cho, Pei-Fang Tsai, Robert J Lake, Asjad Basheer, Hua-Ying Fan   +4 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
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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
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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
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COCKAYNE’S SYNDROME [PDF]

American Journal of Roentgenology, 1972
Cockayne’s syndrome is a specific roentgenologic entity as well as a specific clinical entity, the radiologist being able to first suggest the diagnosis.The earliest roentgen findings, usually becoming noticeable during the 2nd and 3rd years of life, are microcephaly, posterior tapering of thoracic vertebral bodies, and steepening of the iliac angle in
Joanna Seibert, Webster Riggs
openaire   +3 more sources

The Sleep Or Mood Novel Adjunctive therapy (SOMNA) trial: a study protocol for a randomised controlled trial evaluating an internet-delivered cognitive behavioural therapy program for insomnia on outcomes of standard treatment for depression in men [PDF]

, 2015
BACKGROUND: Insomnia is a significant risk factor for depression onset, can result in more disabling depressive illness, and is a common residual symptom following treatment cessation that can increase the risk of relapse.
Christensen, Helen M., Cockayne, Nicole L., Glozier, Nick S., Griffiths, Kathleen M, Hickie, Ian B., Naismith, Sharon L., Ritterband, Lee M., Thorndike, Frances P.   +7 more
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