Results 51 to 60 of about 10,371 (225)

Hydrogen peroxide induced genomic instability in nucleotide excision repair-deficient lymphoblastoid cells [PDF]

, 2010
Copyright @ 2010 Gopalakrishnan et al; licensee BioMed Central Ltd.Background The Nucleotide Excision Repair (NER) pathway specialises in UV-induced DNA damage repair. Inherited defects in the NER can predispose individuals to Xeroderma Pigmentosum (XP).
Gopalakrishnan, K, Hande, P, Low, GKM, Slijepcevic, P, Srikanth, P, Ting, APL   +5 more
core   +2 more sources

Transcriptional changes in trichothiodystrophy cells [PDF]

, 2008
Mutations in three of the genes encoding the XPB, XPD and TTDA components of transcription factor TFIIH can result in the clinical phenotype of trichothiodystrophy (TTD).
Alan Lehmann, Bergmann, Boerma, Bootsma, Botta, Broughton, Coin, Coin, Compe, Compe, da Costa, de Boer, de Boer, Doniger, Drane, Drapkin, Dubaele, Giglia-Mari, Hohl, Hosack, Itin, Jacky Pallas, Judith Offman, Keriel, Koch-Paiz, Kraemer, Kraemer, Lee, Lehmann, Lehmann, Lehmann, Mike Hubank, Nakabayashi, Nipurna Jina, Park, Pemble, Ranish, Reardon, Schaeffer, Selzer, Sesto, Smyth, Storey, Taylor, Therina Theron, Viprakasit, Wu   +46 more
core   +2 more sources

Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome [PDF]

, 2018
BACKGROUND: Cockayne syndrome (CS) is a rare, autosomal recessive multisystem disorder characterised by prenatal or postnatal growth failure, progressive neurological dysfunction, ocular and skeletal abnormalities and premature ageing.
Botta, Elena, Calmels, Nadege, Fawcett, Heather, Jia, Nan, Kubota, Masaya, Lanzafame, Manuela, Laugel, Vincent, Lehmann, Alan Robert, Moriwaki, Shinichi, Nakazawa, Yuka, Nardo, Tiziana, Ogi, Tomoo, Orbinger, Cathy, Orioli, Donata, Spitz, Marie-Aude, Stefanini, Miria, Sugita, Katsuo   +16 more
core   +1 more source

Purinergic mechanosensory transduction and visceral pain [PDF]

, 2009
In this review, evidence is presented to support the hypothesis that mechanosensory transduction occurs in tubes and sacs and can initiate visceral pain.
Burnstock, G
core   +3 more sources

Ophthalmic management of Cockayne's syndrome [PDF]

Eye, 1996
Cockayne's syndrome is a rare, autosomal recessive condition which usually presents in early childhood, and is characterised by dwarfism, premature ageing, mental retardation and a typical facial appearance and body habitus. Retinal dystrophy, enophthalmos, strabismus, cataract, nystagmus and corneal opacities are associated ocular features.
A A Khan, A M Ansons, A M McElvanney, W J Wooldridge   +3 more
openaire   +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

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

Swallowing in Cockayne Syndrome: A Case Report

Oral Science International, 2008
AbstractThe case of a 20‐year‐old female with Cockayne syndrome, presenting with reduced intake of food, is described. At admission, her intake of food and her body weight were low. The patient’s food swallowing function was recorded by video fluorography and evaluated.
George Umemoto, Iwao Hara, Hiromasa Takahashi, Toshihiro Kikuta   +3 more
openaire   +3 more sources

Cockayne syndrome: The developing phenotype

American Journal of Medical Genetics Part A, 2005
AbstractCockayne syndrome is a rare autosomal recessive condition comprising microcephaly, “cachectic dwarfism” and progressive neurological degeneration. We present a 21‐year‐old woman who was not diagnosed with Cockayne syndrome type I until she was 21 years old.
Tan, Wen‐Hann, Baris, Hagit, Robson, Caroline D, Kimonis, Virginia E   +3 more
openaire   +5 more sources

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