Results 31 to 40 of about 11,060 (134)

Xeroderma Pigmentosum: a case report with oral implications [PDF]

, 2012
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.
Antônio Barreto, Jaison, Ferreira Rocha, Julierme, Humberto Damante, José, Lopes Cardoso, Camila, Ramos Fernandes, Luciana Maria, Teixeira Soares, Cleverson   +5 more
core   +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

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

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

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

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

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

The influence of DNA repair on neurological degeneration, cachexia, skin cancer and internal neoplasms: autopsy report of four xeroderma pigmentosum patients (XP-A, XP-C and XP-D) [PDF]

, 2013
BACKGROUND: To investigate the association of DNA nucleotide excision repair (NER) defects with neurological degeneration, cachexia and cancer, we performed autopsies on 4 adult xeroderma pigmentosum (XP) patients with different clinical features and ...
Alimchandani, Meghna, Aung, Phyu Phyu, Digiovanna, John J, Fine, Howard A, Hewitt, Stephen, Khan, Sikandar G, Kleiner, David E, Kraemer, Kenneth H, Lai, Jin-Ping, Lee, Chyi-Chia R, Levens, David L, Liu, Qingyan, Liu, Yen-Chun, Matsuda, Kant, Oberholtzer, J Carl, Patronas, Nicholas, Quezado, Martha M, Rushing, Elisabeth J, Tamura, Deborah, Tsokos, Maria   +19 more
core   +1 more source

Xeroderma Pigmentosum Group C Deficiency Alters Cigarette Smoke DNA Damage Cell Fate and Accelerates Emphysema Development [PDF]

, 2018
Cigarette smoke (CS) exposure is a major risk factor for the development of emphysema, a common disease characterized by loss of cells comprising the lung parenchyma.
Fisher, Amanda J., Justice, Matthew J., Lamb, Isaac, Petrache, Irina, Saliba, Jacob, Schweitzer, Kelly S., Sears, Catherine R., Wicker, Jessica, Zhou, Huaxin   +8 more
core   +1 more source

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
core   +1 more source