Genomic Rearrangements
Mostrando 1-12 de 397 artigos, teses e dissertações.
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1. DNA replication stress: oncogenes in the spotlight
Abstract Precise replication of genetic material is essential to maintain genome stability. DNA replication is a tightly regulated process that ensues faithful copies of DNA molecules to daughter cells during each cell cycle. Perturbation of DNA replication may compromise the transmission of genetic information, leading to DNA damage, mutations, and chromoso
Genet. Mol. Biol.. Publicado em: 13/12/2019
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2. Polymorphism of Sooty-fronted Spinetail (Synallaxis frontalis Aves: Furnariidae): Evidence of chromosomal rearrangements by pericentric inversion in autosomal macrochromosomes
Abstract The Passeriformes is the most diverse and cytogenetically well-known clade of birds, comprising approximately 5,000 species. The sooty-fronted spinetail (Synallaxis frontalis Aves: Furnariidae) species, which belongs to the order Passeriformes, is typically found in South America, where it is widely distributed. Polymorphisms provide genetic variabi
Genet. Mol. Biol.. Publicado em: 11/03/2019
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3. An activating mutation in the CRHR1 gene is rarely associated with pituitary-dependent hyperadrenocorticism in poodles
OBJECTIVES: Pituitary-dependent hyperadrenocorticism is the most common cause of naturally occurring hypercortisolism in dogs. CRHR1 expression in human and dog corticotrophinomas suggested that this gene affects pituitary tumorigenesis. The present study aimed to investigate mutations in the CRHR1 coding region in poodles with pituitary-dependent hyperadre
Clinics. Publicado em: 2017-09
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4. Human molecular cytogenetics: from cells to nucleotides
The field of cytogenetics has focused on studying the number, structure, function and origin of chromosomal abnormalities and the evolution of chromosomes. The development of fluorescent molecules that either directly or via an intermediate molecule bind to DNA has led to the development of fluorescent in situ hybridization (FISH), a technology linking cytog
Genet. Mol. Biol.. Publicado em: 2014
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5. Caracterização de um grupo de pacientes em risco para câncer de mama e ovário hereditários quanto a presença e frequência de rearranjos gênicos em BRCA
Breast cancer is one of the most common malignancies affecting women worldwide. In Brazil, the State of Rio Grande do Sul has incidence rates and mortality from breast cancer are among the largest in the country. Approximately 5-10% of the cases are caused by germline mutations in predisposing genes including BRCA1 and BRCA2 are associated with the syndrome
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 2012
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6. Characterization of alpha thalassemic genotypes by multiplex ligation-dependent probe amplification in the Brazilian population
Alpha-thalassemia is the most common inherited disorder of hemoglobin synthesis. Genomic deletions involving the alpha-globin gene cluster on chromosome 16p13.3 are the most frequent molecular causes of the disease. Although common deletions can be detected by a single multiplex gap-PCR, the rare and novel deletions depend on more laborious techniques for th
Brazilian Journal of Medical and Biological Research. Publicado em: 2011-01
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7. Genomic rearrangements in BRCA1 and BRCA2 : a literature review
Women with mutations in the breast cancer genes BRCA1 or BRCA2 have an increased lifetime risk of developing breast, ovarian and other BRCA-associated cancers. However, the number of detected germline mutations in families with hereditary breast and ovarian cancer (HBOC) syndrome is lower than expected based upon genetic linkage data. Undetected deleterious
Publicado em: 2010
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8. Genomic rearrangements in BRCA1 and BRCA2: a literature review
Women with mutations in the breast cancer genes BRCA1 or BRCA2 have an increased lifetime risk of developing breast, ovarian and other BRCA-associated cancers. However, the number of detected germline mutations in families with hereditary breast and ovarian cancer (HBOC) syndrome is lower than expected based upon genetic linkage data. Undetected deleterious
Genetics and Molecular Biology. Publicado em: 26/06/2009
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9. MLL leukemia-associated rearrangements in peripheral blood lymphocytes from healthy individuals
Chromosomal translocations are characteristic of hematopoietic neoplasias and can lead to unregulated oncogene expression or the fusion of genes to yield novel functions. In recent years, different lymphoma/leukemia-associated rearrangements have been detected in healthy individuals. In this study, we used inverse PCR to screen peripheral lymphocytes from 10
Genetics and Molecular Biology. Publicado em: 2009
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10. Research on the mechanisms of subtelomeric rearrangements in monosomy 1p36, extension of the spectrum of phenotypic and behavioral variability, diferential diagnosis and characterization of a critical region for obesity / Pesquisa dos mecanismos de rearranjos cromossômicos subteloméricos na monossomia 1p36, expansão do espectro da variabilidade fenotípica e comportamental, diagnósticos diferenciais e caracterização de uma região crítica para obesidade
Subtelomeric abnormalities are an important cause of mental retardation and birth defects. The mechanisms involved in the formation of subtelomeric rearrangements are now beginning to be elucidated. Breakpoint sequencing analysis of 1p36 rearrangements has revealed prevalence of different nonexclusive recombination-repair mechanisms. Rearrangements of 1p36 a
Publicado em: 2009
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11. Preferential induction of MLL (Mixed Lineage Leukemia) rearrangements in human lymphocyte cultures treated with etoposide
Topoisomerase II inhibitors are effective chemotherapeutic agents in the treatment of cancer, in spite of being associated with the development of secondary leukemia. Our purpose was to determine the effects of etoposide on different genomic regions, aiming at discovering whether there are preferential sites which can be targeted by this drug in peripheral l
Genetics and Molecular Biology. Publicado em: 2009
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12. Estudos de citogenética e de filogenia molecular em roedores da tribo Akodontini / Cytogenetics and molecular phylogenetics in rodents of the tribe Akodontini
Traditionally comparative cytogenetic studies are based mainly on banding patterns. Nevertheless, when dealing with species with highly rearranged genomes, as in Akodon species, or with other highly divergent species, cytogenetic comparisons of banding patterns prove to be inadequate. Hence, comparative chromosome painting has become the method of choice for
Publicado em: 2009