Works matching DE "COCKAYNE syndrome"

Results: 101

Clinical and Mutation Spectra of Cockayne Syndrome in India.

Published in:

2021

By:

Narayanan, Dhanya;
Tuteja, Moni;
McIntyre, Adam;
Hegele, Robert;
Calmels, Nadege;
Obringer, Cathy;
Laugel, Vincent;
Mandal, Kausik;
Phadke, Shubha;
Narayanan, Dhanya L;
McIntyre, Adam D;
Hegele, Robert A;
Phadke, Shubha R

Publication type:

journal article

Cockayne syndrome in siblings.

Published in:

2018

By:

Sowmini, P. R.;
Kumar, M. Sathish;
Velayutham, S. Sakthi;
Revathy, G.;
Arunan, S.

Publication type:

Case Study

Dendritic spine density is altered in a mouse model of Cockayne syndrome.

Published in:

Neuropathology & Applied Neurobiology, 2013, v. 39, n. 4, p. 437, doi. 10.1111/j.1365-2990.2012.01305.x

By:

Wong, J. C.;
Visanji, N. P.;
Dabek, M. K.;
Laposa, R. R.;
Hazrati, L.‐N.

Publication type:

Article

PGBD5: a neural-specific intron-containing piggyBac transposase domesticated over 500 million years ago and conserved from cephalochordates to humans.

Published in:

Mobile DNA, 2013, v. 4, n. 1, p. 1, doi. 10.1186/1759-8753-4-23

By:

Pavelitz, Thomas;
Gray, Lucas T.;
Padilla, Stephanie L.;
Bailey, Arnold D.;
Weiner, Alan M.

Publication type:

Article

Regulation of active genome integrity and expression by Rad26p.

Published in:

Nucleus (1949-1034), 2014, v. 5, n. 6, p. 520, doi. 10.4161/nucl.36230

By:

Malik, Shivani;
Bhaumik, Sukesh R

Publication type:

Article

UV-sensitive syndrome protein UVSSA recruits USP7 to regulate transcription-coupled repair.

Published in:

Nature Genetics, 2012, v. 44, n. 5, p. 598, doi. 10.1038/ng.2230

By:

Schwertman, Petra;
Lagarou, Anna;
Dekkers, Dick H W;
Raams, Anja;
van der Hoek, Adriana C;
Laffeber, Charlie;
Hoeijmakers, Jan H J;
Demmers, Jeroen A A;
Fousteri, Maria;
Vermeulen, Wim;
Marteijn, Jurgen A

Publication type:

Article

Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair.

Published in:

Nature Genetics, 2012, v. 44, n. 5, p. 593, doi. 10.1038/ng.2228

By:

Zhang, Xue;
Horibata, Katsuyoshi;
Saijo, Masafumi;
Ishigami, Chie;
Ukai, Akiko;
Kanno, Shin-ichiro;
Tahara, Hidetoshi;
Neilan, Edward G;
Honma, Masamitsu;
Nohmi, Takehiko;
Yasui, Akira;
Tanaka, Kiyoji

Publication type:

Article

Nucleotide excision repair--initiating proteins bind to oxidative DNA lesions in viva.

Published in:

Journal of Cell Biology, 2012, v. 199, n. 7, p. 1037, doi. 10.1083/jcb.201205149

By:

Menoni, Hervé;
Hoeijmakers, Jan H. J.;
Vermeulen, Wim

Publication type:

Article

Demyelinating prenatal and infantile developmental neuropathies.

Published in:

Journal of the Peripheral Nervous System, 2012, v. 17, n. 1, p. 32, doi. 10.1111/j.1529-8027.2012.00379.x

By:

Yiu, Eppie M.;
Ryan, Monique M.

Publication type:

Article

Anesthetic Management of a Child with Cerebro-Oculo-Facio-Skeletal Syndrome.

Published in:

2019

By:

Şaylan, Alev;
Çelebi, Şaylan;
Canbay, Özgür

Publication type:

Case Study

Premature aging in genetic diseases:what conclusions can be drawn for physiological aging.

Published in:

Frontiers in Aging Neuroscience, 2024, p. 01, doi. 10.3389/fragi.2023.1327833

By:

Milosic, Filip;
Hengstschläger, Markus;
Osmanagic-Myers, Selma

Publication type:

Article

Editorial: DNA repair and interventions in aging.

Published in:

Frontiers in Aging Neuroscience, 2023, p. 1, doi. 10.3389/fragi.2023.1306463

By:

Brosh Jr., Robert M.;
Moskalev, Alexey;
Gorbunova, Vera

Publication type:

Article

Defective resolution of pH2AX foci and enhanced DNA breakage in ionizing radiation-treated cockayne syndrome B cells.

Published in:

IUBMB Life, 2011, v. 63, n. 4, p. 272, doi. 10.1002/iub.445

By:

Ropolo, Monica;
Cappelli, Enrico;
Foresta, Mara;
Poggi, Alessandro;
Proietti-De-Santis, Luca;
Frosina, Guido

Publication type:

Article

Síndrome de Cockayne: informe de dos casos clínicos y revisión de la literatura.

Published in:

Iatreia, 2011, v. 24, n. 4, p. 415

By:

Palencia, Cervia Margarita;
Tafur, Carlos;
Jaimes, Víctor;
Cañizalez, Elizabeth;
Zambrano, Ligia Zambrano;
López, Simón Gómez

Publication type:

Article

Identification of Novel Proteins Co-Purifying with Cockayne Syndrome Group B (CSB) Reveals Potential Roles for CSB in RNA Metabolism and Chromatin Dynamics.

Published in:

PLoS ONE, 2015, v. 10, n. 6, p. 1, doi. 10.1371/journal.pone.0128558

By:

Nicolai, Serena;
Filippi, Silvia;
Caputo, Manuela;
Cipak, Lubos;
Gregan, Juraj;
Ammerer, Gustav;
Frontini, Mattia;
Willems, Daniela;
Prantera, Giorgio;
Balajee, Adayabalam S.;
Proietti-De-Santis, Luca

Publication type:

Article

Identification of Two Missense Mutations of ERCC6 in Three Chinese Sisters with Cockayne Syndrome by Whole Exome Sequencing.

Published in:

PLoS ONE, 2014, v. 9, n. 12, p. 1, doi. 10.1371/journal.pone.0113914

By:

Yu, Shanshan;
Chen, Liyuan;
Ye, Lili;
Fei, Lingna;
Tang, Wei;
Tian, Yujiao;
Geng, Qian;
Yi, Xin;
Xie, Jiansheng

Publication type:

Article

Cockayne Syndrome: Varied Requirement of Transcription-Coupled Nucleotide Excision Repair for the Removal of Three Structurally Different Adducts from Transcribed DNA.

Published in:

PLoS ONE, 2014, v. 9, n. 4, p. 1, doi. 10.1371/journal.pone.0094405

By:

Kitsera, Nataliya;
Gasteiger, Karola;
Lühnsdorf, Bork;
Allgayer, Julia;
Epe, Bernd;
Carell, Thomas;
Khobta, Andriy

Publication type:

Article

Genome-Wide Transcriptional Effects of the Anti-Cancer Agent Camptothecin.

Published in:

PLoS ONE, 2013, v. 8, n. 10, p. 1, doi. 10.1371/journal.pone.0078190

By:

Veloso, Artur;
Biewen, Benjamin;
Paulsen, Michelle T.;
Berg, Nathan;
Carmo de Andrade Lima, Leonardo;
Prasad, Jayendra;
Bedi, Karan;
Magnuson, Brian;
Wilson, Thomas E.;
Ljungman, Mats

Publication type:

Article

The ERCC6 Gene and Age-Related Macular Degeneration.

Published in:

PLoS ONE, 2010, v. 5, n. 11, p. 1, doi. 10.1371/journal.pone.0013786

By:

Baas, Dominique C.;
Despriet, Dominiek D.;
Gorgels, Theo G. M. F.;
Bergeron-Sawitzke, Julie;
Uitterlinden, André G.;
Hofman, Albert;
van Duijn, Cornelia M.;
Merriam, Joanna E.;
Smith, R. Theodore;
Barile, Gaetano R.;
ten Brink, Jacoline B.;
Vingerling, Johannes R.;
Klaver, Caroline C. W.;
Allikmets, Rando;
Dean, Michael;
Bergen, Arthur A. B.

Publication type:

Article

Extracellular Recombinant Annexin II Confers UVC-Radiation Resistance and Increases the Bcl-xL to Bax Protein Ratios in Human UVC-Radiation-Sensitive Cells.

Published in:

Radiation Research, 2011, v. 176, n. 6, p. 732, doi. 10.1667/RR2561.1

By:

Kita, Kazuko;
Sugita, Katsuo;
Chen, Shi-Ping;
Suzuki, Toshikazu;
Sugaya, Shigeru;
Tanaka, Takeshi;
Jin, Yuan-Hu;
Satoh, Tetsuo;
Tong, Xiao-Bo;
Suzuki, Nobuo

Publication type:

Article

Cockayne syndrome group B protein promotes mitochondrial DNA stability by supporting the DNA repair association with the mitochondrial membrane.

Published in:

FASEB Journal, 2010, v. 24, n. 7, p. 2334, doi. 10.1096/fj.09-147991

By:

Aamann, Maria D.;
Sorensen, Martin M.;
Hvitby, Christina;
Berquist, Brian R.;
Muftuoglu, Meltem;
Jingyan Tian;
de Souza-Pinto, Nadja C.;
Scheibye-Knudsen, Morten;
Wilson III, David M.;
Stevnsner, Tinna;
Bohr, Vilhelm A.

Publication type:

Article

Disorders of Nucleotide Excision Repair.

Published in:

Current Medical Literature: Dermatology, 2013, v. 18, n. 2, p. 29

By:

Fassihi, Hiva

Publication type:

Article

Early host cell reactivation of an oxidatively damaged adenovirus-encoded reporter gene requires the Cockayne syndrome proteins CSA and CSB.

Published in:

Mutagenesis, 2011, v. 26, n. 2, p. 315, doi. 10.1093/mutage/geq096

By:

Leach, Derrik M.;
Rainbow, Andrew J.

Publication type:

Article

Association of micronucleus frequency with neurodegenerative diseases.

Published in:

Mutagenesis, 2011, v. 26, n. 1, p. 85, doi. 10.1093/mutage/geq067

By:

Migliore, Lucia;
Coppedè, Fabio;
Fenech, Michael;
Thomas, Philip

Publication type:

Article

Analysis of repair and PCNA complex formation induced by ionizing radiation in human fibroblast cell lines.

Published in:

Mutagenesis, 2001, v. 16, n. 3, p. 225, doi. 10.1093/mutage/16.3.225

By:

Karmakar, Parimal;
Balajee, A. S.;
Natarajan, A. T.

Publication type:

Article

Hypomyelinating leukodystrophy and movement disorders.

Published in:

Annals of Movement Disorders, 2023, v. 6, n. 2, p. 58, doi. 10.4103/aomd.aomd_1_23

By:

Ganguly, Jacky;
Sinha, Jigyasha;
Basu, Purba;
Pal, Anushree;
Monda, Banashree;
Tiwari, Mona;
Kumar, Hrishikesh

Publication type:

Article

Cerebellar ataxia with intracranial calcification: Cockayne syndrome.

Published in:

2022

By:

Teja, Sai;
Singh, Rajveer;
Mehta, Sahil;
Lal, Vivek

Publication type:

Abstract

Overexpression of p53 but not Rb in the cytoplasm of neurons and small vessels in an autopsy of a patient with Cockayne syndrome.

Published in:

Neuropathology, 2015, v. 35, n. 3, p. 266, doi. 10.1111/neup.12183

By:

Miyahara, Hiroaki;
Itonaga, Tomoyo;
Maeda, Tomoki;
Izumi, Tatsuro;
Ihara, Kenji

Publication type:

Article

Accumulation of phosphorylated TDP-43 in the CNS of a patient with Cockayne syndrome.

Published in:

Neuropathology, 2013, v. 33, n. 6, p. 673, doi. 10.1111/neup.12038

By:

Sakurai, Atsushi;
Makioka, Kouki;
Fukuda, Toshio;
Takatama, Masamitsu;
Okamoto, Koichi

Publication type:

Article

Brain vascular changes in Cockayne syndrome.

Published in:

Neuropathology, 2012, v. 32, n. 2, p. 113, doi. 10.1111/j.1440-1789.2011.01241.x

By:

Hayashi, Masaharu;
Miwa-Saito, Naho;
Tanuma, Naoyuki;
Kubota, Masaya

Publication type:

Article

Phenotype Evolution in Xeroderma Pigmentosum/Cockayne Syndrome.

Published in:

2014

By:

Heller, Elizabeth R.;
Tamura, Deborah;
Zein, Wadih M.;
Brooks, Brian P.;
Khan, Sikandar G.;
Kraemer, Kenneth H.;
DiGiovanna, John J.

Publication type:

Abstract

Constructive rescue of TFIIH instability by an alternative isoform of XPD derived from a mutated XPD allele in mild but not severe XP-D/CS.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 5, p. 259, doi. 10.1038/jhg.2015.18

By:

Horibata, Katsuyoshi;
Kono, Sayaka;
Ishigami, Chie;
Zhang, Xue;
Aizawa, Madoka;
Kako, Yuko;
Ishii, Takuma;
Kosaki, Rika;
Saijo, Masafumi;
Tanaka, Kiyoji

Publication type:

Article

Tracking the cognitive, social, and neuroanatomical profile in early neurodegeneration: type III Cockayne syndrome.

Published in:

Frontiers in Aging Neuroscience, 2013, v. 5, p. 1, doi. 10.3389/fnagi.2013.00080

By:

Baez, Sandra;
Couto, Blas;
Herrera, Eduar;
Bocanegra, Yamile;
Trujillo-Orrego, Natalia;
Madrigal-Zapata, Lucia;
Cardona, Juan Felipe;
Manes, Facundo;
Ibanez, Agustin;
Villegas, Andres

Publication type:

Article

A Case of 25 Year Old Dwarf with Classic Cockayne Syndrome.

Published in:

2010

By:

Mohammed, F. R.;
Chowdhury, F. R.;
Nur, Z.;
Shams, M. Z.;
Alam, M. B.;
Hamn, Ahasan

Publication type:

Case Study

Cockayne Syndrome Misdiagnosed as Cerebral Palsy.

Published in:

Iranian Journal of Child Neurology, 2018, v. 12, n. 4, p. 162

By:

VAFAEE, Amiereza;
BAGHDADI, Taghi;
NOROUZZADEH, Sara

Publication type:

Article

Phenotypic variability in xeroderma pigmentosum group G: An uncommon case with severe prenatal‐onset Cockayne syndrome features.

Published in:

Clinical Genetics, 2018, v. 94, n. 3/4, p. 386, doi. 10.1111/cge.13364

By:

Ricotti, R.;
Nardo, T.;
Striano, P.;
Stefanini, M.;
Orioli, D.;
Botta, E.

Publication type:

Article

Pellagra-like condition is xeroderma pigmentosum/Cockayne syndrome complex and niacin confers clinical benefit.

Published in:

Clinical Genetics, 2015, v. 87, n. 1, p. 56, doi. 10.1111/cge.12325

By:

Hijazi, H.;
Salih, M.A.;
Hamad, M.H.A.;
Hassan, H.H.;
Salih, S.B.M.;
Mohamed, K.A.;
Mukhtar, M.M.;
Karrar, Z.A.;
Ansari, S.;
Ibrahim, N.;
Alkuraya, F.S.

Publication type:

Article

ERCC6 founder mutation identified in Finnish patients with COFS syndrome Jaakkola et al.

Published in:

Clinical Genetics, 2010, v. 78, n. 6, p. 541, doi. 10.1111/j.1399-0004.2010.01424.x

By:

Jaakkola, Elisa;
Mustonen, A.;
Olsen, P.;
Miettinen, S.;
Savuoja, T.;
Raams, A.;
Jaspers, N. G. J.;
Shao, H.;
Wu, B. L.;
Ignatius, J.

Publication type:

Article

Mutations in Cockayne Syndrome-Associated Genes (Csa and Csb) Predispose to Cisplatin-Induced Hearing Loss in Mice.

Published in:

Journal of Neuroscience, 2016, v. 36, n. 17, p. 4758, doi. 10.1523/JNEUROSCI.3890-15.2016

By:

Rainey, Robert N.;
Sum-yan Ng;
Llamas, Juan;
van der Horst, Gijsbertus T. J.;
Segil, Neil

Publication type:

Article

Cockayne Syndrome Group B (Csb) and Group A (Csa) Deficiencies Predispose to Hearing Loss and Cochlear Hair Cell Degeneration in Mice.

Published in:

Journal of Neuroscience, 2015, v. 35, n. 10, p. 4280, doi. 10.1523/JNEUROSCI.5063-14.2015

By:

Nagtegaal, A. Paul;
Rainey, Robert N. Rainey;
van der Pluijm, Ingrid;
Brandt, Renata M. C.;
van der Horst, Gijsbertus T. J.;
Borst, J. Gerard G.;
Segil, Neil

Publication type:

Article

Review of How Genetic Research on Segmental Progeroid Syndromes Has Documented Genomic Instability as a Hallmark of Aging But Let Us Now Pursue Antigeroid Syndromes!

Published in:

2021

By:

Martin, George M;
Hisama, Fuki M;
Oshima, Junko

Publication type:

journal article

Nationwide survey of Cockayne syndrome in Japan: Incidence, clinical course and prognosis.

Published in:

Pediatrics International, 2015, v. 57, n. 3, p. 339, doi. 10.1111/ped.12635

By:

Kubota, Masaya;
Ohta, Sayaka;
Ando, Aki;
Koyama, Akiko;
Terashima, Hiroshi;
Kashii, Hirofumi;
Hoshino, Hideki;
Sugita, Katsuo;
Hayashi, Masaharu

Publication type:

Article

TRiC controls transcription resumption after UV damage by regulating Cockayne syndrome protein A.

Published in:

Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-03484-6

By:

Pines, Alex;
Dijk, Madelon;
Makowski, Matthew;
Meulenbroek, Elisabeth M.;
Vrouwe, Mischa G.;
van der Weegen, Yana;
Baltissen, Marijke;
French, Pim J.;
van Royen, Martin E.;
Luijsterburg, Martijn S.;
Mullenders, Leon H.;
Vermeulen, Michiel;
Vermeulen, Wim;
Pannu, Navraj S.;
van Attikum, Haico

Publication type:

Article

A Rare Case of Cockayne Syndrome-MRI Features.

Published in:

2012

By:

MUNDAGANUR, PRAVEEN

Publication type:

Case Study

Cockayne Syndrome.

Published in:

Iranian Journal of Child Neurology, 2014, v. 8, n. 4, p. 18

By:

JAVADZADEH, Mohsen

Publication type:

Article

Leukodystrophies with Intracranial Calcifications.

Published in:

Iranian Journal of Child Neurology, 2014, v. 8, n. 4, p. 16

By:

MAHVELATI SHAMSABADI, Farhad

Publication type:

Article

Cellular sensitivity to UV-irradiation is mediated by RNA polymerase I transcription.

Published in:

PLoS ONE, 2017, v. 12, n. 6, p. 1, doi. 10.1371/journal.pone.0179843

By:

Assfalg, Robin;
Alupei, Marius Costel;
Wagner, Maximilian;
Koch, Sylvia;
Gonzalez, Omar Garcia;
Schelling, Adrian;
Scharffetter-Kochanek, Karin;
Iben, Sebastian

Publication type:

Article

CSB ablation induced apoptosis is mediated by increased endoplasmic reticulum stress response.

Published in:

PLoS ONE, 2017, v. 12, n. 3, p. 1, doi. 10.1371/journal.pone.0172399

By:

Caputo, Manuela;
Balzerano, Alessio;
Arisi, Ivan;
D’Onofrio, Mara;
Brandi, Rossella;
Bongiorni, Silvia;
Brancorsini, Stefano;
Frontini, Mattia;
Proietti-De-Santis, Luca

Publication type:

Article

Renal Involvement in 2 Siblings With Cockayne Syndrome.

Published in:

2017

By:

Ben Chehida, Amel;
Ghali, Narjess;
Ben Abdelaziz, Rim;
Ben Moussa, Fatma;
Tebib, Neji

Publication type:

journal article

Renal Involvement in 2 Siblings With Cockayne Syndrome.

Published in:

2017

By:

Chehida, Amel Ben;
Ghali, Narjess;
Abdelaziz, Rim Ben;
Moussa, Fatma Ben;
Tebib, Neji

Publication type:

Case Study