Results 61 to 70 of about 11,060 (134)

Mouse model for the DNA repair/basal transcription disorder Trichothiodystrophy reveals cancer predisposition. [PDF]

, 1999
Patients with the nucleotide excision repair (NER) disorder xeroderma pigmentosum (XP) are highly predisposed to develop sunlight-induced skin cancer, in remarkable contrast to photosensitive NER-deficient trichothiodystrophy (TTD) patients carrying ...
Beems, R.B. (Rudolf), Berg, R.J.W. (Rob), Boer, J. (Jan) de, Bootsma, D. (Dirk), Garssen, J. (Johan), Gruijl, F.R. (Frank) de, Hoeijmakers, J.H.J. (Jan), Horst, G.T.J. (Gijsbertus) van der, Kreijl, C.F. (Coen) van, Oostrom, C.T.M. (Conny) van, Steeg, H. (Harry) van, Weeda, G. (Geert), Wit, J. (Jan) de   +12 more
core   +1 more source

Xeroderma Pigmentosum With Early And Rapid Development Of Malignancy

Indian Journal of Dermatology, 2000
A case of xeroderma pigmentosum in a 9 year old developing multiple tumours over a short period of 6 months is reported. The tumours showed two different types of malignancies-squamous cell carcinoma and malignant melanoma.
Ghosh Arghyaprasum, Banerjee Raghubir, Coondoo Arijit   +2 more
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Transferring an optimized TAP-toolbox for the isolation of protein complexes to a portfolio of rice tissues [PDF]

, 2016
Proteins are the cell's functional entities. Rather than operating independently, they interact with other proteins. Capturing in vivo protein complexes is therefore crucial to gain understanding of the function of a protein in a cellular context ...
Cannoot, Bernard, De Jaeger, Geert, De Winne, Nancy, Dedecker, Maarten, Dumoulin, Lies, Eeckhout, Dominique, Gevaert, Kris, Persiau, Geert, Van De Slijke, Eveline, Van Leene, Jelle, Vandenabeele, Steven, Vercruysse, Leen, Wojsznis, Nathalie   +12 more
core   +1 more source

Th17 cells require the DNA repair sensor xeroderma pigmentosum complementation Group C to control oxidative DNA damage in a murine model

Nature Communications
T helper 17 cells play essential roles in mucosal immunity and autoimmunity, yet the mechanisms that protect these cells from oxidative DNA damage remain poorly defined.
Jefferson Antônio Leite, Natalia Notarberardino Bos, Luísa Menezes-Silva, Eloísa Martins da Silva, Giovana da Silva Leandro, Guilherme Comparotto Moreira de Goes, Patrick da Silva, Samuel Oliveira, Eder Soares de Almeida Santos, Hedden Ranfley, Ilaria Palagi, Magaiver Andrade-Silva, Camila Pontes Ferreira, José Arimatéa de Oliveira Nery Neto, Victor Yuji Yariwake, Marcella Cipelli, Beatriz Leocata, Talita Gonçalves, Anthony Gabry da Silveira, Sabrina Baroni, Howard L. Weiner, Thomas G. Hofmann, Stefanie Scheu, Bruno Junior Neves, Nadja Cristhina de Souza-Pinto, Leandro Machado Colli, Ari Waisman, Sandra Marcia Muxel, Carlos Frederico Martins Menck, Niels Olsen Saraiva Câmara   +29 more
doaj   +1 more source

Xeroderma pigmentosum: A rare case report with review of literature

Journal of Indian Academy of Oral Medicine and Radiology, 2012
Xeroderma pigmentosum, or XP, is an autosomal recessive genetic disorder in which the ability to repair DNA damage caused by ultraviolet (UV) light is deficient. In extreme cases, all exposure to sunlight must be forbidden, no matter how small.
B Anand, Subramanian Kailasam, P Mahesh Kumar, K Srividhya   +3 more
doaj   +1 more source

Why? What? How? Using an Intervention Mapping approach to develop a personalised intervention to improve adherence to photoprotection in patients with Xeroderma Pigmentosum

Health Psychology and Behavioral Medicine, 2020
Background: Intervention Mapping (IM) is a systematic approach for developing theory-based interventions across a variety of contexts and settings. This paper describes the development of a complex intervention designed to reduce the dose of ultraviolet ...
Jessica Walburn, Kirby Sainsbury, Lesley Foster, John Weinman, Myfanwy Morgan, Sam Norton, Martha Canfield, Paul Chadwick, Bob Sarkany, Vera Araújo-Soares   +9 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
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Healing cells in the dermis and adipose tissues of the adult pig [PDF]

, 2017
Stage-specific antigen-4 (SSEA-4) positive cells and carcinoembryonic antigen-cell adhesion molecule-1 (CEACAM-1)positive cells, indicative of pluripotent stem cells and totipotent stem cells, respectively, have beenisolated and characterized from the ...
Black Jr., Asa C, Black, Gypsy F., Coleman, Julie, Hawkins, Kristina C, Limnios, Jason Ionnis, Lochner, Frank, McCommon, George, Young, Henry E.   +7 more
core   +1 more source

The Cockayne syndrome B protein, involved in transcription-coupled DNA repair, resides in an RNA polymerase II-containing complex [PDF]

, 1997
Transcription-coupled repair (TCR), a subpathway of nucleotide excision repair (NER) defective in Cockayne syndrome A and B (CSA and CSB), is responsible for the preferential removal of DNA lesions from the transcribed strand of active genes, permitting ...
Bootsma, D. (Dirk), Citterio, E. (Elisabetta), Constantinou, A., Egly, J-M. (Jean-Marc), Gool, A.J. (Alain) van, Hoeijmakers, J.H.J. (Jan), Os, R.I. (Roselinde) van, Rademakers, S. (Suzanne), Vermeulen, W. (Wim)   +8 more
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Clinical features related to xeroderma pigmentosum in a Brazilian patient diagnosed at advanced age

The Application of Clinical Genetics, 2018
Marina Guinda Ribeiro,1 Gabriella Lucato Zunta,1 Jéssica Silva Santos,1 Aparecida Machado Moraes,2 Carmen Silvia Passos Lima,2 Manoela Marques Ortega1 1Department of Post Graduate Program in Health Science, São Francisco University, Bragan ...
Ribeiro MG, Zunta GL, Santos JS, Moraes AM, Lima CSP, Ortega MM   +5 more
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