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| Fayaz,Shima; Fard-Esfahani,Pezhman; Fard-Esfahani,Armaghan; Mostafavi,Ehsan; Meshkani,Reza; Mirmiranpour,Hossein; Khaghani,Shahnaz. |
| Homologous recombination (HR) is the major pathway for repairing double strand breaks (DSBs) in eukaryotes and XRCC2 is an essential component of the HR repair machinery. To evaluate the potential role of mutations in gene repair by HR in individuals susceptible to differentiated thyroid carcinoma (DTC) we used high resolution melting (HRM) analysis, a recently introduced method for detecting mutations, to examine the entire XRCC2 coding region in an Iranian population. HRM analysis was used to screen for mutations in three XRCC2 coding regions in 50 patients and 50 controls. There was no variation in the HRM curves obtained from the analysis of exons 1 and 2 in the case and control groups. In exon 3, an Arg188His polymorphism (rs3218536) was detected as a... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: DNA repair; Gene polymorphism; Mutation analysis. |
| Ano: 2012 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000100004 |
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| Porto,Marianna P.R.; Vergani,Naja; Carvalho,Antonio Carlos C.; Cernach,Mirlene C.S.P.; Brunoni,Decio; Perez,Ana Beatriz A.. |
| The Holt-Oram syndrome (HOS) is an autosomal dominant condition characterized by upper limb and cardiac malformations. Mutations in the TBX5 gene cause HOS and have also been associated with isolated heart and arm defects. Interactions between the TBX5, GATA4 and NKX2.5 proteins have been reported in humans. We screened the TBX5, GATA4, and NKX2.5 genes for mutations, by direct sequencing, in 32 unrelated patients presenting classical (8) or atypical HOS (1), isolated congenital heart defects (16) or isolated upper-limb malformations (7). Pathogenic mutations in the TBX5 gene were found in four HOS patients, including two new mutations (c.374delG; c.678G > T) in typical patients, and the hotspot mutation c.835C > T in two patients, one of them with... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Holt-Oram syndrome; Congenital heart disease; TBX5 gene; GATA gene; NKX2.5 gene; Mutation analysis. |
| Ano: 2010 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000200006 |
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| Massoni Neto,L.M.; Bianchi,C.P.; Ab'Saber,A.M.; Parra,E.R.; Takagaki,T.; Pereira,J.C.; Soares,F.A.; Leite,K.; Capelozzi,V.L.. |
| Malignancy of pulmonary large cell carcinomas (LCC) increases from classic LCC through LCC with neuroendocrine morphology (LCCNM) to large cell neuroendocrine carcinomas (LCNEC). However, the histological classification has sometimes proved to be difficult. Because the malignancy of LCC is highly dependent on proteins with functions in the cell cycle, DNA repair, and apoptosis, p53 has been targeted as a potentially useful biological marker. p53 mutations in lung cancers have been shown to result in expression and protein expression also occurs in the absence of mutations. To validate the importance of both p53 protein expression (by immunostaining) and p53 gene mutations in lung LCC (by PCR-single strand conformational polymorphism analysis of exons 5, 6,... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Large cell carcinoma; P53; Genetics; Molecular biology; Lung cancer; Mutation analysis. |
| Ano: 2007 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2007000800004 |
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| Murtaza,B.N.; Bibi,A.; Rashid,M.U.; Khan,Y.I.; Chaudri,M.S.; Shakoori,A.R.. |
| The incidence of colorectal cancer (CRC) is increasing daily worldwide. Although different aspects of CRC have been studied in other parts of the world, relatively little or almost no information is available in Pakistan about different aspects of this disease at the molecular level. The present study was aimed at determining the frequency and prevalence of K ras gene mutations in Pakistani CRC patients. Tissue and blood samples of 150 CRC patients (64% male and 36% female) were used for PCR amplification of K ras and detection of mutations by denaturing gradient gel electrophoresis, restriction fragment length polymorphism analysis, and nucleotide sequencing. The K ras mutation frequency was found to be 13%, and the most prevalent mutations were found at... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Colorectal cancer; Kirsten rat sarcoma viral oncogene homologue; Mutation analysis; Risk factors for CRC; Cetuximab therapy. |
| Ano: 2014 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2014000100035 |
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