Works matching Cockayne syndrome

Results: 480

Nadir Bir Hemipleji Nedeni Olarak Cockayne Sendromu: Bir Olgu Sunumu Eşliğinde Literatürün Gözden Geçirilmesi.

Published in:

Turkish Journal of Neurology / Turk Noroloji Dergisi, 2019, v. 25, n. 1, p. 36, doi. 10.4274/tnd.galenos.2018.49827

By:

İnceer, Beşir Şahin;
Bulut, Onur;
Savaş, Yılmaz

Publication type:

Article

Xeroderma pigmentosum-Cockayne syndrome complex.

Published in:

2017

By:

Natale, Valerie;
Raquer, Hayley

Publication type:

journal article

A Rare Case of Cockayne Syndrome-MRI Features.

Published in:

2012

By:

MUNDAGANUR, PRAVEEN

Publication type:

Case Study

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

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

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

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

Síndrome de Cockayne: relato de dois casos.

Published in:

Scientia Medica, 2012, v. 22, n. 4, p. 211

By:

Resende, Catarina;
Loureiro, Susana;
Cardoso, Elisa;
Fonseca, Sofia;
Sá, Joaquim;
Simões, Fátima

Publication type:

Article

Cockayne Syndrome.

Published in:

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

By:

JAVADZADEH, Mohsen

Publication type:

Article

A Novel ERCC6 Splicing Variant Associated with a Mild Cockayne Syndrome Phenotype.

Published in:

Hormone Research in Paediatrics, 2014, v. 82, n. 5, p. 344, doi. 10.1159/000368192

By:

Swartz, Jonathan M.;
akinci, aysehan;
andrew, Shayne F.;
Siğirci, ahmet;
Hirschhorn, Joel N.;
Rosenfeld, Ron G.;
Dauber, andrew;
Hwa, Vivian

Publication type:

Article

Occupational Therapy in Cockayne Syndrome: A Case Report.

Published in:

Journal of Modern Rehabilitation, 2017, v. 11, n. 3, p. 189

By:

Pashmdarfard, Marzieh

Publication type:

Article

A possible cranio-oro-facial phenotype in Cockayne syndrome.

Published in:

Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-9

By:

Bloch-Zupan, Agnès;
Rousseaux, Morgan;
Laugel, Virginie;
Schmittbuhl, Matthieu;
Mathis, Rémy;
Desforges, Emmanuelle;
Koob, Mériam;
Zaloszyc, Ariane;
Dollfus, Hélène;
Laugel, Vincent

Publication type:

Article

Neonatal onset Cockayne syndrome: A rare photogenodermatosis.

Published in:

2016

By:

Kumar, A. L. Senthil;
Aruna, C.;
Swapna, K.;
Ramamurthy, D. V. S. B.

Publication type:

Case Study

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

Elevated Urinary Levels of 8-Hydroxy-2′-deoxyguanosine in a Japanese Child of Xeroderma Pigmentosum/Cockayne Syndrome Complex with Infantile Onset of Nephrotic Syndrome.

Published in:

Tohoku Journal of Experimental Medicine, 2016, v. 239, n. 3, p. 231, doi. 10.1620/tjem.239.231

By:

Daiki Kondo;
Atsuko Noguchi;
Hiroaki Tamura;
Satoko Tsuchida;
Ikuko Takahashi;
Hiroki Kubota;
Tamami Yano;
Chikako Oyama;
Yukio Sawaishi;
Shinichi Moriwaki;
Tsutomu Takahashi

Publication type:

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

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

ERCC8-related Cockayne syndrome type-1: A rare entity diagnosed in a Turkish boy.

Published in:

Journal of Surgery & Medicine (JOSAM), 2023, v. 7, n. 10, p. 719, doi. 10.28982/josam.7380

By:

Kocagil, Sinem;
Keklikci, Ali Riza;
Aydemir, Yusuf;
Cilingir, Oguz;
Aynaci, Sabri;
Gokalp, Ebru Erzurumluoglu;
Aras, Beyhan Durak;
Artan, Sevilhan

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

Evaluation of Patients with Cockayne Syndrome.

Published in:

Journal of Pediatric Academy (J. Pediatr. Acad.), 2024, v. 5, n. 3, p. 93, doi. 10.4274/jpea.2024.314

By:

Acer, Hamit;
Özçora, Gül Demet;
Canpolat, Mehmet;
Doğan, Muhammet Ensar;
Karaman, Zehra Filiz;
Kumandaş, Sefer

Publication type:

Article

Síndrome Cockayne, presentación de caso.

Published in:

Revista de Ciencias Médicas de Pinar del Río, 2022, v. 26, n. 2, p. 1

By:

Esther Santana-Hernández, Elayne;
Jesús Tamayo-Chang, Víctor;
María González-Anta, Ana

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

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

Two novel mutations in ERCC6 cause Cockayne syndrome B in a Chinese family.

Published in:

Molecular Medicine Reports, 2017, v. 15, n. 6, p. 3957, doi. 10.3892/mmr.2017.6487

By:

CHUNXIA HE;
MAO SUN;
GUOXIA WANG;
YING YANG;
LIBO YAO;
YUANMING WU

Publication type:

Article

Movement Disorders and Spinal Cord Atrophy in Cockayne Syndrome with Prolonged Survival.

Published in:

2018

By:

Morales‐Briceño, Hugo;
Fung, Victor S. C.;
Planas‐Ballvé, Anna;
Crespo‐Cuevas, Ane Miren

Publication type:

Case Study

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

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

Dental Management of a 14-Year-Old with Cockayne Syndrome under General Anesthesia.

Published in:

2014

By:

Gaddam, Divya;
Singh Thakur, Mukesh;
Krothapalli, Niranjani;
Kaniti, Saujanya

Publication type:

Case Study

HDAC inhibition improves autophagic and lysosomal function to prevent loss of subcutaneous fat in a mouse model of Cockayne syndrome.

Published in:

Science Translational Medicine, 2018, v. 10, n. 456, p. 1, doi. 10.1126/scitranslmed.aam7510

By:

Majora, Marc;
Sondenheimer, Kevin;
Knechten, Maren;
Uthe, Ingo;
Esser, Charlotte;
Schiavi, Alfonso;
Ventura, Natascia;
Krutmann, Jean

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

The Sequence-Specific Transcription Factor c-Jun Targets Cockayne Syndrome Protein B to Regulate Transcription and Chromatin Structure.

Published in:

PLoS Genetics, 2014, v. 10, n. 4, p. 1, doi. 10.1371/journal.pgen.1004284

By:

Lake, Robert J.;
Boetefuer, Erica L.;
Tsai, Pei-Fang;
Jeong, Jieun;
Choi, Inchan;
Won, Kyoung-Jae;
Fan, Hua-Ying

Publication type:

Article

ATP-Dependent Chromatin Remodeling by Cockayne Syndrome Protein B and NAP1-Like Histone Chaperones Is Required for Efficient Transcription-Coupled DNA Repair.

Published in:

PLoS Genetics, 2013, v. 9, n. 4, p. 1, doi. 10.1371/journal.pgen.1003407

By:

Iltaeg Cho;
Pei-Fang Tsai;
Lake, Robert J.;
Basheer, Asjad;
Hua-Ying Fan

Publication type:

Article

A boy with bird-like facies and ataxia: Cockayne syndrome.

Published in:

Indian Journal of Paediatric Dermatology, 2018, v. 19, n. 3, p. 251, doi. 10.4103/ijpd.IJPD_83_17

By:

Pandit, Vishalakshi

Publication type:

Article

Pioglitazone Improves Fat Tissue Distribution and Hyperglycemia in a Case of Cockayne Syndrome With Diabetes.

Published in:

Diabetes Care, 2015, v. 38, n. 5, p. e76, doi. 10.2337/dc14-2944

By:

Aiko Hayashi;
Minoru Takemoto;
Mayumi Shoji;
Akiko Hattori;
Katsuo Sugita;
Koutaro Yokote

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

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

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

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

Defective transcription of ATF3 responsive genes, a marker for Cockayne Syndrome.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-57999-4

By:

Epanchintsev, Alexey;
Rauschendorf, Marc-Alexander;
Costanzo, Federico;
Calmels, Nadege;
Obringer, Cathy;
Sarasin, Alain;
Coin, Frederic;
Laugel, Vincent;
Egly, Jean-Marc

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

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

Cockayne syndrome with intracranial calcification, hypomyelination, and cerebral atrophy.

Published in:

Journal of Neurosciences in Rural Practice, 2017, v. 8, n. 1, p. 120, doi. 10.4103/0976-3147.185511

By:

James, Joe;
Jose, James

Publication type:

Article

Identification of one Novel complex delins mutation and one recurrent mutation of ERCC8 gene in a Chinese family with Cockayne Syndrome A.

Published in:

Journal of the European Academy of Dermatology & Venereology, 2017, v. 31, n. 9, p. e394, doi. 10.1111/jdv.14201

By:

Gu, Y.;
Bhatta, A.K.;
Du, X.;
Shao, M.;
Keyal, U.;
Zhang, G.;
Hua, Y.

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

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

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

First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene.

Published in:

BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0677-7

By:

Chebly, Alain;
Corbani, Sandra;
Abou Ghoch, Joelle;
Mehawej, Cybel;
Megarbane, André;
Chouery, Eliane

Publication type:

Article