Results 51 to 60 of about 2,256,617 (260)

Assessing the Formation of Purine Lesions in Mitochondrial DNA of Cockayne Syndrome Cells. [PDF]

Biomolecules, 2022
Mitochondrial (mt) DNA and nuclear (n) DNA have known structures and roles in cells; however, they are rarely compared under specific conditions such as oxidative or degenerative environments that can create damage to the DNA base moieties.
Chatgilialoglu C, Krokidis MG, Masi A, Barata-Vallejo S, Ferreri C, Pascucci B, D'Errico M.   +6 more
europepmc   +2 more sources

Identification of two missense mutations of ERCC6 in three Chinese sisters with Cockayne syndrome by whole exome sequencing. [PDF]

PLoS ONE, 2014
Cockayne syndrome (CS) is a rare autosomal recessive disorder, the primary manifestations of which are poor growth and neurologic abnormality. Mutations of the ERCC6 and ERCC8 genes are the predominant cause of Cockayne syndrome, and the ERCC6 gene ...
Shanshan Yu, Liyuan Chen, Lili Ye, Lingna Fei, Wei Tang, Yujiao Tian, Qian Geng, Xin Yi, Jiansheng Xie   +8 more
doaj   +1 more source

A Novel DNA Repair Disorder With Thrombocytopenia, Nephrosis, and Features Overlapping Cockayne Syndrome [PDF]

, 2009
We report on four siblings with Cockayne-like syndrome with thrombocytopenia and nephrotic syndrome. The parents were healthy and consanguineous, consistent with an autosomal recessive mode of disease inheritance.
Cockayne, Funaki, Hirooka, Kruglyak, Lehmann, Lehmann, Mallery, Mayne, Nance, Reiss, Sato, Tan   +11 more
core   +3 more sources

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
core   +1 more source

Síndrome de Cockayne

Brazilian Journal of Health Review, 2022
INTRODUÇÃO: A Síndrome de Cocayne (SC) é um distúrbio raro, hereditário, autossômico recessivo que está associado a mutações em dois genes envolvidos no reparo do DNA. Ela é caracterizada por alterações, como nanismo, atraso no desenvolvimento neuropsicomotor, deficiência intelectual, marcha deficiente, anomalias oculares, microcefalia e surdez ...
Cabral, Clara Elyades Araújo, Heluany, Daniela Nícoli Cabral, Teixeira, Danielle, Caetano, Fernanda Alves, Braga, Gabriela Wander de Almeida, Balena, Gabriela Zoldan, Cerbarro, Gabrielle Fernanda, Trindade, Gabriella Fernandes, Bezerra, Geovana Christina Isidoro, Sander, Renata Cury, Nishi, Caroline Ery, Oliveira, Carolina Ribeiro Fernandes, Vieira, André Dias Mayrink, Peres, Anna Karlla de Oliveira, de Queiroz, Andressa Pereira, Fernandes, Brenda Martins, Barbosa, Carlos Eduardo, Ramos, Débora Salvador, Dantas, Flávia Patrícia Quireza, de Assis Neto, Francisco Inácio, Ferreira, Gabriel Henrique Ciriaco, Costa, Yanka Victória Souza, Mallmann, Carina Luize   +22 more
openaire   +2 more sources

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
core   +1 more source

Loss of Proteostasis Is a Pathomechanism in Cockayne Syndrome

Cell Reports, 2018
Summary: Retarded growth and neurodegeneration are hallmarks of the premature aging disease Cockayne syndrome (CS). Cockayne syndrome proteins take part in the key step of ribosomal biogenesis, transcription of RNA polymerase I.
Marius Costel Alupei, Pallab Maity, Philipp Ralf Esser, Ioanna Krikki, Francesca Tuorto, Rosanna Parlato, Marianna Penzo, Adrian Schelling, Vincent Laugel, Lorenzo Montanaro, Karin Scharffetter-Kochanek, Sebastian Iben   +11 more
doaj   +1 more source

Cockayne syndrome [PDF]

Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2011
Cockayne syndrome is a rare autosomal recessive disease. This paper reports a case of Cockayne syndrome confirmed by gene analysis. The baby (male, 7 years old) was referred to Peking University Third Hospital with recurrent desquamation, pigmentation and growth and development failure for 6 years, and recurrent dental caries and tooth loss for 2 years.
Xue-Mei, Wang, Yun-Pu, Cui, Yun-Feng, Liu, Ling, Wei, Hui, Liu, Xin-Li, Wang, Zhuo-Zhao, Zheng   +6 more
  +5 more sources

Transcription-associated breaks in Xeroderma Pigmentosum group D cells from patients with combined features of Xeroderma Pigmentosum and Cockayne Syndrome [PDF]

, 2005
Defects in the XPD gene can result in several clinical phenotypes, including xeroderma pigmentosum (XP), trichothiodystrophy, and, less frequently, the combined phenotype of XP and Cockayne syndrome (XP-D/CS).
Andressoo, Jaan-Olle, Botta, Elena, Fousteri, Maria I., Fujimoto, Mitsuo, Harries, Lorna W., Jaspers, Nicolaas G. J., Lehmann, Alan R., McDaniel, Lisa D., Mitchell, Jay, Mullenders, Leon H., Stefanini, Miria, Theron, Therina, Volker, Marcel   +12 more
core   +3 more sources

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