Results 71 to 80 of about 11,060 (134)

Peripheral Neurolopathy in Xeroderma Pigmentosum

Pediatric Neurology Briefs, 1990
The peripheral nerve pathology in two autopsied cases of group A xeroderma pigmentosum (De Sanctis Cacchione syndrome) is reported from the Tokyo Medical and Dental University, Tokyo Metropolitan Neurological Hospital, and Tokyo Metropolitan Kita Medical
J Gordon Millichap
doaj   +1 more source

Inter-individual variation in nucleotide excision repair in young adults: effects of age, adiposity, micronutrient supplementation and genotype [PDF]

, 2009
Nucleotide excision repair (NER) is responsible for repairing bulky helix-distorting DNA lesions and is essential for the maintenance of genomic integrity.
Alison Spiers, Ann K. Daly, Brian Burtle, Elizabeth A. Williams, Fiona Caple, Gaivão, John C. Mathers, John E. Hesketh, John Tyson, Qiao, Tomasetti, Wei   +11 more
core   +1 more source

Xeroderma Pigmentosum: Variable Expressions among Three Siblings

Journal of Indian Academy of Oral Medicine and Radiology, 2010
Xeroderma pigmentosum is a rare disorder transmitted in an autosomal recessive manner. It is characterized by photosensitivity, pigmentary changes, premature skin aging, and malignant tumor development.
M Srinivasa Raju, G N Suma, S M Ravi Prakash, Sumit Goel   +3 more
doaj  

Symptoms and Course of Xeroderma Pigmentosum

Pediatric Neurology Briefs, 2008
Sixteen Finnish patients with xeroderma pigmentosum (XP) were followed for up to 23 years, and their neurological symptoms and course determined in a study at Turku University Central Hospital, Finland; Erasmus University, Rotterdam, The Netherlands ...
J Gordon Millichap
doaj   +1 more source

XPC deficiency increases risk of hematologic malignancies through mutator phenotype and characteristic mutational signature

Nature Communications, 2020
Xeroderma Pigmentosum group C (XP-C) is a rare genetic disorder characterised by deficient DNA repair leading to skin and internal cancer, but the latter is not well understood molecularly.
Andrey A. Yurchenko, Ismael Padioleau, Bakhyt T. Matkarimov, Jean Soulier, Alain Sarasin, Sergey Nikolaev   +5 more
doaj   +1 more source

Damaged-DNA Binding Protein-2 Drives Apoptosis Following DNA Damage [PDF]

, 2010
Apoptosis induced by DNA damage is an important mechanism of tumor suppression and it is significant also in cancer chemotherapy. Mammalian cells activate the pathways of p53 to induce apoptosis of cells harboring irreparable DNA damages.
Srilata Bagchi, Pradip Raychaudhuri
core   +2 more sources

Current evidences on XPC polymorphisms and gastric cancer susceptibility: a meta-analysis [PDF]

, 2014
BACKGROUND: Reduced DNA repair capacities due to inherited polymorphisms may increase the susceptibility to cancers including gastric cancer. Previous studies investigating the association between Xeroderma Pigmentosum group C (XPC) gene polymorphisms ...
Cuiju Mo, Qiliu Peng, Ruolin Li, Shan Li, Xianjun Lao, Xue Qin, Yu Lu, Zhiping Chen   +7 more
core   +2 more sources

Sunscreens - Which and what for? [PDF]

, 2005
It is well established that sun exposure is the main cause for the development of skin cancer. Chronic continuous UV radiation is believed to induce malignant melanoma, whereas intermittent high-dose UV exposure contributes to the occurrence of actinic ...
Ananthaswamy HN, Autier P, Azurdia RM, Birt DF, Bush JA, Damian DL, Darlington S, Gallagher RP, Gers-Balag H, Gil EM, Green A, Hallmans G, Hany J, Katiyar SK, Kipp C, Kricker A, Krutman J, Kunz PY, Lapidot N, Levy SB, Loeppky R, Mackie B, Mc Vean M, Mitchnik M, Montemarano AD, Noonan FP, Okereke CS, Perugini P, Petersen AB, Pinnell SR, Poh Agin P, Poon TS, Record IR, Rouabia M, Runger TM, Sayre RM, Scalia S, Schauder S, Schlumpf M, Schrader K, Schulz J, Schwarz VA, Stern RS, Tebbe B, Wamer W, Wang ZY, Wolf R, Wulf HC, Yarosh D, Zhao J   +49 more
core   +1 more source

Treatment of corneoscleral mixed hemangioma by intrastromal lenticule transplantation in a case of xeroderma pigmentosum: a case report

BMC Ophthalmology
Background Xeroderma pigmentosum (XP) is a rare autosomal recessive skin disease. The ocular manifestations in XP patients usually include severe photophobia, conjunctivitis, corneal opacification, ocular surface squamous neoplasia (OSSN) which often ...
Yingwei Wang, Li Cai, Hua Feng, Xiaofei Wu, Hongmin Ke, Jerry Ma, Wanmei Tang, Kunling Chen, Qiong Wang   +8 more
doaj   +1 more source

The association between XPC Lys939Gln gene polymorphism and urinary bladder cancer susceptibility: a systematic review and meta-analysis [PDF]

, 2013
BACKGROUND: Numerous epidemiological studies have been conducted to explore the association between the Lys939Gln polymorphism of Xeroderma pigmentosum group C (XPC) gene and urinary bladder cancer susceptibility. However, the results remain inconclusive.
Kun Dou, Qingzhu Xu, Xiaolu Han
core   +1 more source