Results 31 to 40 of about 25,299 (246)

DNA strand break repair and neurodegeneration. [PDF]

, 2013
A number of DNA repair disorders are known to cause neurological problems. These disorders can be broadly characterised into early developmental, mid-to-late developmental or progressive.
Abraham, Ahel, Alano, Alderton, Alter, Barbi, Barlow, Barnes, Bayatti, Bendixen, Bohr, Bootsma, Breslin, Brown, Buck, Buis, Caldecott, Caldecott, Caldecott, Cantoni, Chappell, Clements, Cortes Ledesma, Date, de Boer, de Boer, de Klein, de Vries, Delaval, Derheimer, Donahue, Durocher, El-Khamisy, El-Khamisy, El-Khamisy, Eliasson, Fattah, Frank, Frank, Frappart, Gao, Gao, Gatz, Goodship, Griffith, Gruber, Gueven, Henning, Hoeijmakers, Hoeijmakers, Jackson, Jeggo, Jilani, Kathe, Katyal, Keith W. Caldecott, Koch, Kuzminov, Lakin, Lakshmipathy, LaMonica, Le Ber, Lee, Lee, Lee, Lehmann, Letinic, Li, Licht, Lieber, Lindahl, Ljungman, Ljungman, Loizou, Luo, Mallery, Mao, Matsuura, Mayne, McKinnon, McKinnon, Mellon, Mischo, Mitchell, Moreira, Moreira, Moreno-Herrero, Morris, Moynahan, Mu, Murai, Murai, Murga, Nakane, Nance, Nilsen, Nussenzweig, Ogi, Okano, Orii, Osterod, Ouyang, O’Driscoll, O’Driscoll, O’Driscoll, Paula-Barbosa, Paull, Puebla-Osorio, Resnick, Revet, Reynolds, Reynolds, Rouse, Sanai, Schumacher, Shechter, Shen, Shiloh, Shull, Sidman, Skourti-Stathaki, Sleeth, Sonoda, Stefanini, Stewart, Stiff, Stuart L. Rulten, Sugasawa, Syljuasen, Takashima, Taylor, Tebbs, Theunissen, Thorslund, Uziel, van der Burg, van der Horst, Varon, Verhagen, Vinters, Virag, Vrouwe, Waltes, Weeda, Weterings, Whitehouse, Williams, Williams, Xu, Yu, Yu, Yuce, Zecevic, Zecevic, Zhou, Zhou, Zhu, Zou   +157 more
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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

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

Structural basis of TFIIH activation for nucleotide excision repair. [PDF]

, 2019
Nucleotide excision repair (NER) is the major DNA repair pathway that removes UV-induced and bulky DNA lesions. There is currently no structure of NER intermediates, which form around the large multisubunit transcription factor IIH (TFIIH).
Chernev, A., Cramer, P., Dienemann, C., Kokic, G., Tegunov, D., Urlaub, H.   +5 more
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Basal Cell Carcinoma in Cases with or without Xeroderma Pigmentosum

Journal of Nepal Medical Association, 2017
Introduction: Basal cell carcinoma is the most common form of cancer in humans and comprises the vast majority of skin cancers. It predominantly affects fair-skinned individuals, and its incidence is rapidly increasing.
Dilasma Ghartimagar, Arnab Ghosh, Sushil Ram Shrestha, Sachet Shrestha, Raghavan Narasimhan, O P Talwar   +5 more
doaj   +1 more source

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 with ocular involvement and squamous cell carcinoma: A case report

Dermatology Reports, 2019
Xeroderma Pigmentosum is a rare, autosomal recessive genetic disorder, characterized by defective DNA repair leading to clinical and cellular hypersensitivity to ultraviolet radiation and carcinogenic agents.
Bernadya Yogatri Anjuwita Saputri, Iskandar Zulkarnain   +1 more
doaj   +1 more source

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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Neurological symptoms and natural course of xeroderma pigmentosum [PDF]

, 2008
We have prospectively followed 16 Finnish xeroderma pigmentosum (XP) patients for up to 23 years. Seven patients were assigned by complementation analysis to the group XP-A, two patients to the XP-C group and one patient to the XP-G group.
Anttinen, Anu, Arlett, Colin F, Erkinjuntti,, Matti, Green, Michael H L, Jaspers, Nicolaas G J, Koulu, Leena, Kurki, Timo, Lehmann, Alan R, Marttila, Reijo J, Nikoskelainen, Eeva, Portin,, Raija, Raams, Anja, Wing, Jonathan F   +12 more
core   +3 more sources