Results 31 to 40 of about 22,799 (245)

A novel splice variant of the DNA-PKcs gene is associated with clinical and cellular radiosensivity in a patient with xeroderma pigmentosum [PDF]

, 2010
Background: Radiotherapy-induced DNA double-strand breaks (DSBs) are critical cytotoxic lesions. Inherited defects in DNA DSB repair pathways lead to hypersensitivity to ionising radiation, immunodeficiency and increased cancer incidence.
Abbaszadeh, Fatemah, Arlett, Colin F., Bourton, E.C, Clingen, Peter H., Green, M H, Makarov, E.M., Newbold, R.F, Parris, C.N., Plowman, P.N, Themis, M.   +9 more
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DNA repair, DNA replication and human disorders: A personal journey [PDF]

, 2012
I was born in 1946 and grew up in the industrial north-west of England close to the city of Manchester. My parents were German- Jewish refugees, who left Germany fairly early, in 1933.
Alan R. Lehmann, Barnes, Barnes, Bienko, Bohr, Broughton, Burk, Carr, Cleaver, Cordonnier, Daigaku, Domon, Edmunds, Fenech, Fousteri, Gebara, Griffiths, Henderson, Hirano, Hoege, Johnson, Kannouche, Kannouche, Kannouche, Karras, Kleijer, Lee, Lehmann, Lehmann, Lehmann, Lehmann, Lehmann, Lehmann, Lehmann, Lehmann, Lehmann, Lehmann, Lehmann, Lehmann, Lehmann, Lehmann, Lehmann, Lett, Ley, Masutani, Mayne, McDonald, McGrath, Mellon, Murray, Murray, Nduka, Ogi, Okazaki, Palecek, Phipps, Regan, Rupp, Rupp, Saitoh, Savitsky, Schaeffer, Schmickel, Sergeant, Setlow, Stefanini, Strunnikov, Taylor, Taylor, Taylor, Teo, Tissier, Tsukada, van Duin, Venema, Weber   +75 more
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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

Xeroderma Pigmentosum [PDF]

Head and Neck Pathology, 2016
Xeroderma pigmentosum (XP) is a rare disorder of defective UV-radiation induced damage repair that is characterized by photosensitivity with easy skin burning following minimal sun exposure, early freckling and development of lentiginous pigmentation along with other features of poikiloderma and a propensity for developing skin cancer at an early age ...
openaire   +3 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
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Xeroderma Pigmentosum A Multidisciplinary Approach [PDF]

European Medical Journal Dermatology, 2013
Xeroderma pigmentosum (XP) is a rare, autosomal recessive disorder of DNA repair. Affected individuals are unable to repair ultraviolet radiation (UVR)-induced DNA damage, leading to a variety of clinical manifestations: a dramatic increase in ...
Mieran Sethi, Alan R. Lehmann, Hiva Fassihi   +2 more
doaj  

A case of squamous cell carcinoma of the lower lip secondary to xeroderma pigmentosum in a child [PDF]

Kouqiang yixue
Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder related to XP gene variation, often causing secondary malignant tumors. This article reports a case of a young child with secondary squamous cell carcinoma of the lower lip caused by ...
LI Shiyong, WU Yong, ZHANG Xin, MA Wen, WANG Sihang, FU Shuai
doaj   +1 more source

Structure and mechanism of human DNA polymerase η [PDF]

, 2010
The variant form of the human syndrome xeroderma pigmentosum (XPV) is caused by a deficiency in DNA polymerase eta (Pol eta), a DNA polymerase that enables replication through ultraviolet-induced pyrimidine dimers.
A Alt, A Mees, A Nicholls, A Scrima, AJ McCoy, AJ McCoy, Alan R. Lehmann, AR Lehmann, AT Brünger, BC Broughton, C Masutani, C Masutani, C Vonrhein, Chikahide Masutani, Christian Biertümpfel, DE Brash, DF Jarosz, DG Vassylyev, DV Bugreev, E Bassett, E Glick, F Wang, Fumio Hanaoka, H Inui, H Ling, H Ling, H Ling, H Park, H Saribasak, IW Davis, J Bauer, J Di Lucca, J Trincao, J Yao, Jae Young Lee, JH Min, K Sugasawa, L Jia, L Rey, L Wang, M Tanioka, Mark Gregory, MJ McIlwraith, P Emsley, R Kusumoto, R Kusumoto, RC Wilson, RE Johnson, RJ Kokoska, S Broyde, S Creighton, S Lone, Santiago Ramón-Maiques, SD McCulloch, SG Chaney, T Hishida, T Kawamoto, TC Terwilliger, W Kabsch, W Yang, W Yang, WA Hendrickson, Wei Yang, Y Li, Ye Zhao, Yuji Kondo, Z Otwinowski   +66 more
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Squamous Cell Carcinoma in African Children with Xeroderma Pigmentosum: Three Case Reports

Case Reports in Dermatology, 2016
Introduction: Xeroderma pigmentosum is a rare autosomal recessive genetic disease. This disease predisposes patients to early-onset skin cancers, particularly squamous cell carcinoma. Here, we report 3 pediatric cases, including 2 deaths.
Mamadou Kaloga, Pauline Dioussé, Boubacar Ahy Diatta, Mariama Bammo, Sarah Kourouma, Almamy Diabate, Ndiaga Gueye, Haby Dione, Moussa Diallo, Bernard Marcel Diop   +9 more
doaj   +1 more source

CYSTIC FOREIGN BODY GIANT CELL GRANULOMA IN XERODERMA PIGMENTOSUM [PDF]

Basrah Journal of Surgery, 2014
CYSTIC FOREIGN BODY GIANT CELL GRANULOMA IN XERODERMA PIGMENTOSUM Ali Abbas Alshawi FFDRCSI, FDSRCS. Assist. Prof. Consultant Maxillofacial Surgeon, Basrah General Hospital, Dean of Basrah Dental College, Basrah, Iraq.
Ali Abbas Alshawi
doaj   +1 more source