Xeroderma Pigmentosum
Mostrando 1-12 de 267 artigos, teses e dissertações.
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1. How history and geography may explain the distribution in the Comorian archipelago of a novel mutation in DNA repair-deficient xeroderma pigmentosum patients
Abstract Xeroderma pigmentosum (XP) is a rare, genetic, autosomal nucleotide excision repair-deficient disease characterized by sun-sensitivity and early appearance of skin and ocular tumors. Thirty-two black-skinned XP from Comoros, located in the Indian Ocean, were counted, rendering this area the highest world prevalence of XP. These patients exhibited a
Genet. Mol. Biol.. Publicado em: 13/12/2019
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2. Solitary plantar basal cell carcinoma
Abstract: Basal cell carcinoma is the most frequent skin cancer, generally located in hair-bearing, sunlight-exposed areas. Basal cell carcinoma usually occurs on the head and neck, but very rarely on extra-facial locations. We report a case of a 65-year-old woman presenting with a solitary non-healing ulcer on the sole of the right foot for two years. Histo
An. Bras. Dermatol.. Publicado em: 2018-06
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3. Contribution of DNA repair xeroderma pigmentosum group D genotypes to pancreatic cancer risk in the Chinese Han population
Abstract This study aimed to determine the association between the polymorphisms and haplotypes in the xeroderma pigmentosum group D (XPD) gene and the risk of pancreatic cancer in the Chinese Han population. SNaPshot was used for genotyping six SNP sites of the XPD gene. Comparisons of the correlations between different genotypes in combination with smoking
Genet. Mol. Biol.. Publicado em: 18/12/2017
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4. Nucleotide excision repair pathway assessment in DNA exposed to low-intensity red and infrared lasers
Low-intensity lasers are used for prevention and management of oral mucositis induced by anticancer therapy, but the effectiveness of treatment depends on the genetic characteristics of affected cells. This study evaluated the survival and induction of filamentation of Escherichia coli cells deficient in the nucleotide excision repair pathway, and the action
Braz J Med Biol Res. Publicado em: 10/07/2015
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5. DNA repair diseases: what do they tell us about cancer and aging?
The discovery of DNA repair defects in human syndromes, initially in xeroderma pigmentosum (XP) but later in many others, led to striking observations on the association of molecular defects and patients' clinical phenotypes. For example, patients with syndromes resulting from defective nucleotide excision repair (NER) or translesion synthesis (TLS) present
Genet. Mol. Biol.. Publicado em: 2014
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6. Analysis of the genetic nature in brazilian Xeroderma pigmentosum patients. / Análise da natureza genotípica de pacientes Xeroderma pigmentosum brasileiros.
O NER é uma via de reparo de DNA capaz de lidar com uma ampla variedade de lesões. Participam do NER diversas proteínas, entre elas a endonuclease XPG. Pacientes que possuem mutações no gene XPG apresentam a síndrome XP, e em alguns casos XP/CS. Investigamos a natureza genética de dois pacientes XP-G, que são irmãos e apresentam fenótipo moderado.
Publicado em: 2010
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7. Treatment of cutaneous tumors with topical 5% imiquimod cream
INTRODUCTION: There are various approaches to the treatment of cutaneous tumors; one of them is treatment with imiquimod, a synthetic toll-like receptor agonist with a low molecular weight that offers a topical, noninvasive, and non-surgical therapeutic option. The main objective of our study was to provide data on 89 patients who used a 5% imiquimod cream f
Clinics. Publicado em: 2009
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8. Use of adenoviral vectors in the identification of genetic complementation group of patients with Xeroderma pigmentosum um and animals deficient in DNA repair. / Uso de vetores adenovirais na identificação de grupo de complementação gênica de pacientes com Xeroderma pigmentosum e em animais deficientes em reparo de DNA.
One of the most versatile mechanisms of DNA repair is the nucleotide excision repair (NER). Genetic defects in NER can generate different syndromes. Among these, Xeroderma pigmentosum) presents the highest sensitivity to sunlight, resulting in a large increase in the incidence of skin cancer, especially in areas exposed to the sunlight, and in some cases, pr
Publicado em: 2008
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9. XPA DNA repair gene modulation in human cell lines by genetic vectors / Modulação da expressão do gene de reparo de DNA xpa por meio de vetores genéticos em células humanas
A integridade do DNA é ameaçada pelos efeitos lesivos de inúmeros agentes físicos e químicos que podem vir a comprometer sua função. Um dos mais versáteis e estudados mecanismos de reparo de DNA é o reparo por excisão de nucleotídeos (NER). Este mecanismo remove lesões que causam distorções na dupla fita de DNA, incluindo dímeros de pirimidina
Publicado em: 2001
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10. Frequencies of X-ray induced chromosome aberrations in lymphocytes of xeroderma pigmentosum and Fanconi anemia patients estimated by Giemsa and fluorescence in situ hybridization staining techniques
Linfócitos sanguíneos de pacientes com xeroderma pigmentosum (XP) e anemia de Fanconi (FA) foram avaliados quanto à sensibilidade à ionização radiante estimando-se a freqüência de aberrações cromossômicas (CA) induzidas por raios-X (1 e 2 Gy). As freqüências de aberrações no genoma inteiro foram estimadas em preparações de linfócitos irradi
Genetics and Molecular Biology. Publicado em: 2000-12
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11. Xeroderma pigmentosum neurological abnormalities correlate with colony-forming ability after ultraviolet radiation.
Xeroderma pigmentosum is an autosomal recessive disease in which DNA repair processes are defective. All xeroderma pigmentosum patients develop premature aging of sun-exposed skin, and some develop neurological abnormalities due to premature death of nerve cells. Sensitivity to ultraviolet radiation of 24 xeroderma pigmentosum fibroblast strains was studied
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12. XERODERMA PIGMENTOSUM: A HUMAN DISEASE IN WHICH AN INITIAL STAGE OF DNA REPAIR IS DEFECTIVE*
Homozygous xeroderma pigmentosum fibroblasts cannot repair damage to DNA bases, but can repair damage that involves chain breaks. In xeroderma pigmentosum, therefore, there is a defect in an early step in repair at which base damage is recognized and the polynucleotide chain broken enzymatically (by an endonuclease). Heterozygous fibroblasts repair base dama