Chromosomal Rearrangements
Mostrando 1-12 de 517 artigos, teses e dissertações.
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1. Chromosome diversity in Buthidae and Chactidae scorpions from Brazilian fauna: Diploid number and distribution of repetitive DNA sequences
Abstract In this work, we analyzed cytogenetically eight Chactidae and Buthidae, including the localization of repetitive DNA sequences. The chactids possess monocentric chromosomes and the highest diploid numbers (2n=50 in Brotheas amazonicus, 2n=36 in Chactopsis amazonica, 2n=30 in Neochactas sp.) when compared with buthids (2n=10 in Tityus bahiensis, 2n=1
Genetics and Molecular Biology. Publicado em: 2023
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2. 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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3. Chromosomal distribution of the retroelements Rex 1, Rex 3 and Rex 6 in species of the genus Harttia and Hypostomus (Siluriformes: Loricariidae)
RESUMO Os elementos transponíveis (TE) têm sido amplamente aplicados como marcadores cromossômicos. Contudo, em Loricariidae, há poucas análises de mapeamento físico destes elementos. Considerando a importância de elementos transponíveis para a evolução cromossômica e organização genômica, este trabalho realizou o mapeamento físico cromossômi
Neotrop. ichthyol.. Publicado em: 18/07/2019
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4. Integrated analysis of the critical region 5p15.3–p15.2 associated with cri-du-chat syndrome
Abstract Cri-du-chat syndrome (CdCs) is one of the most common contiguous gene syndromes, with an incidence of 1:15,000 to 1:50,000 live births. To better understand the etiology of CdCs at the molecular level, we investigated theprotein–protein interaction (PPI) network within the critical chromosomal region 5p15.3–p15.2 associated with CdCs using syste
Genet. Mol. Biol.. Publicado em: 11/04/2019
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5. 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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6. Chromosome Mapping and Molecular Characterization of the Tc1/Mariner Element in Rineloricaria (Siluriformes: Loricariidae)
ABSTRACT The Tc1/Mariner sequence was isolated and mapped on chromosomes aiming to verify the association of this transposable element (TE) and chromosomal rearrangements in Rineloricaria. Cytogenetic analysis showed that Tc1/Mariner does not co-localize with chromosomal fusion points, in addition the analysis revealed intense molecular degeneration in its D
Braz. arch. biol. technol.. Publicado em: 08/10/2018
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7. Repetitive DNAs and shrink genomes: A chromosomal analysis in nine Columbidae species (Aves, Columbiformes)
Abstract An extensive karyotype variation is found among species belonging to the Columbidae family of birds (Columbiformes), both in diploid number and chromosomal morphology. Although clusters of repetitive DNA sequences play an important role in chromosomal instability, and therefore in chromosomal rearrangements, little is known about their distribution
Genet. Mol. Biol.. Publicado em: 19/02/2018
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8. Skull shape and size variation within and between mendocinus and torquatus groups in the genus Ctenomys (Rodentia: Ctenomyidae) in chromosomal polymorphism context
Abstract We tested the association between chromosomal polymorphism and skull shape and size variation in two groups of the subterranean rodent Ctenomys. The hypothesis is based on the premise that chromosomal rearrangements in small populations, as it occurs in Ctenomys, produce reproductive isolation and allow the independent diversification of populations
Genet. Mol. Biol.. Publicado em: 2018
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9. Complex karyotype including ring chromosome 11 in a patient with acute myeloid leukemia: case report
ABSTRACT CONTEXT: Complex karyotypes in acute myeloid leukemia (AML) are characterized by an overall low response rate with frequent relapses after clinical treatment. CASE REPORT: Here, we describe the case of a 61-year-old obese female with clinically diagnosed AML who presented a complex karyotype involving an uncommon abnormality: ring chromosome 11. I
Sao Paulo Med. J.. Publicado em: 21/08/2017
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10. Identifying Mazama gouazoubira (Artiodactyla; Cervidae) chromosomes involved in rearrangements induced by doxorubicin
Abstract The process of karyotype evolution in Cervidae from a common ancestor (2n = 70, FN = 70) has been marked by complex chromosomal rearrangements. This ancestral karyotype has been retained by the current species Mazama gouazoubira (Fischer 1814), for which a chromosomal polymorphism (Robertsonian translocations and the presence of B chromosomes) has b
Genet. Mol. Biol.. Publicado em: 05/06/2017
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11. Radiation exposure and thyroid cancer: a review
ABSTRACT The association between radiation exposure and the occurrence of thyroid cancer has been well documented, and the two main risk factors for the development of a thyroid cancer are the radiation dose delivered to the thyroid gland and the age at exposure. The risk increases after exposure to a mean dose of more than 0.05-0.1 Gy (50-100mGy). The risk
Arch. Endocrinol. Metab.. Publicado em: 16/02/2017
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12. Identification of the MYST3-CREBBP fusion gene in infants with acute myeloid leukemia and hemophagocytosis
ABSTRACT Background: Acute myeloid leukemia presenting the MYST3-CREBBP fusion gene is a rare subgroup associated with hemophagocytosis in early infancy and monocytic differentiation. The aim of this study was to define the relevant molecular cytogenetic characteristics of a unique series of early infancy acute myeloid leukemia cases (≤24 months old), bas
Rev. Bras. Hematol. Hemoter.. Publicado em: 2016-12