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Ordenar por: RelevânciaAutorTítuloAnoImprime registros no formato resumido
Registros recuperados: 9
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A never-ending story: the steadily growing family of the FA and FA-like genes Genet. Mol. Biol.
Gueiderikh,Anna; Rosselli,Filippo; Neto,Januario B.C..
Abstract Among the chromosome fragility-associated human syndromes that present cancer predisposition, Fanconi anemia (FA) is unique due to its large genetic heterogeneity. To date, mutations in 21 genes have been associated with an FA or an FA-like clinical and cellular phenotype, whose hallmarks are bone marrow failure, predisposition to acute myeloid leukemia and a cellular and chromosomal hypersensitivity to DNA crosslinking agents exposure. The goal of this review is to trace the history of the identification of FA genes, a history that started in the eighties and is not yet over, as indicated by the cloning of a twenty-first FA gene in 2016.
Tipo: Info:eu-repo/semantics/article Palavras-chave: DNA repair; Leukemia; Fanconi anemia; Chromosomal abnormalities.
Ano: 2017 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000300398
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Atypical chromosome abnormalities in acute myeloid leukemia type M4 Genet. Mol. Biol.
Fett-Conte,Agnes C.; Estrela,Roseli Viscardi; Vendrame-Goloni,Cristina B.; Carvalho-Salles,Andréa B.; Ricci-Júnior,Octávio; Varella-Garcia,Marileila.
This study reports an adult AML-M4 patient with atypical chromosomal aberrations present in all dividing bone marrow cell at diagnosis: t(1;8)(p32.1;q24.2), der(9)t(9;10)(q22;?), and ins(19;9)(p13.3;q22q34) that may have originated transcripts with leukemogenic potential.
Tipo: Info:eu-repo/semantics/article Palavras-chave: Acute myeloid leukemia; Chromosomal abnormalities; Chromosomal translocations.
Ano: 2007 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000100002
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Cytogenetic characterization and evaluation of c-MYC gene amplification in PG100, a new Brazilian gastric cancer cell line BJMBR
Ribeiro,H.F.; Alcântara,D.F.A.; Matos,L.A.; Sousa,J.M.C.; Leal,M.F.; Smith,M.A.C.; Burbano,R.R.; Bahia,M.O..
Gastric cancer is the fourth most frequent type of cancer and the second cause of cancer mortality worldwide. The genetic alterations described so far for gastric carcinomas include amplifications and mutations of the c-ERBB2, KRAS, MET, TP53, and c-MYC genes. Chromosomal instability described for gastric cancer includes gains and losses of whole chromosomes or parts of them and these events might lead to oncogene overexpression, showing the need for a better understanding of the cytogenetic aspects of this neoplasia. Very few gastric carcinoma cell lines have been isolated. The establishment and characterization of the biological properties of gastric cancer cell lines is a powerful tool to gather information about the evolution of this malignancy, and...
Tipo: Info:eu-repo/semantics/other Palavras-chave: Carcinogenesis; Chromosomal abnormalities; Gastric cancer; Oncogenes.
Ano: 2010 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2010000800004
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Cytogenotoxicity of rice crop water after application of the tricyclazole fungicide Anais da ABC (AABC)
WANDSCHEER,ALANA C.D.; MARCHESAN,ENIO; TEDESCO,SOLANGE B.; FRESCURA,VIVIANE DAL-SOUTO; SOARES,CAMILLE F.; LONDERO,GUILHERME P.; TELÓ,GUSTAVO M.; HANSEL,DÂMARIS S.S..
ABSTRACT Tricyclazole is currently one of the fungicides recommended for the treatment of diseases in irrigated rice. However, there is relatively little information on its cytotoxic and genotoxic potential. The objective of this study was to evaluate the cytotoxicity and genotoxicity of rice crop water after apllication of the tricyclazole fungicide through the Allium cepa L. test. The rice crop water samplings were collected before and 1, 15 and 30 days after application of the fungicide in rice plant shoots. The Allium cepa roots were placed in contact with the rice crop water to check for possible chromosomal abnormalities and mitotic index of the bioindicators meristematic cells. The data obtained by the Allium cepa test indicates that the application...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Bioindicator; Chromosomal abnormalities; Mitotic index; Pesticide; Irrigated rice.
Ano: 2017 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0001-37652017000301251
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DNA damage in the kidney tissue cells of the fish Rhamdia quelen after trophic contamination with aluminum sulfate Genet. Mol. Biol.
Klingelfus,Tatiane; Costa,Paula Moiana da; Scherer,Marcos; Cestari,Marta Margarete.
Abstract Even though aluminum is the third most common element present in the earth's crust, information regarding its toxicity remains scarce. It is known that in certain cases, aluminum is neurotoxic, but its effect in other tissues is unknown. The aim of this work was to analyze the genotoxic potential of aluminum sulfate in kidney tissue of the fish Rhamdia quelen after trophic contamination for 60 days. Sixty four fish were subdivided into the following groups: negative control, 5 mg, 50 mg and 500 mg of aluminum sulfate per kg of fish. Samples of the posterior kidney were taken and prepared to obtain mitotic metaphase, as well as the comet assay. The three types of chromosomal abnormalities (CA) found were categorized as chromatid breaks,...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Fish; Metal contamination; Chromosomal abnormalities; Comet assay.
Ano: 2015 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572015000400499
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Genetics Analysis with Down Syndrome and Histopathological Examination of Buccal Epithelial Cells International Journal of Morphology
Kalkanli,S; Simsek,S; Balkan,M; Akbas,H; Isi,H; Oral,D; Turkyilmaz,A; Fidanboy,M; Deveci,E; Baran,O; Kalkanli,N; Alp,M. N; Budak,T.
Down syndrome is primarily caused by trisomy of chromosome 21. We reviewed cytogenetic studies performed on 1048 patients who were referred to the Cytogenetics Unit at Dicle University Hospital, Diyarbakir, Southeast Turkey, between 2000 and 2009. The cases were grouped according to the reason of referral for cytogenetic analysis. The highest frequencies of abnormal karyotypes were found among cases that were referred due to suspicion of Down syndrome (84.8%). For histologic examination to persons with Down syndrome and normal, buccal mucosa smear was prepared by rubbing. Down syndrome are disabled and control groups were compared statistically buccal epithelial cells and nuclei (p<0.05). Periphery of the nucleus in some patients with Down's syndrome,...
Tipo: Journal article Palavras-chave: Down syndrome; Buccal mucosa; Southeast Turkey; Chromosomal abnormalities; Genetic counseling.
Ano: 2013 URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0717-95022013000200053
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Loss of Y-chromosome does not correlate with age at onset of head and neck carcinoma: a case-control study BJMBR
Silva Veiga,L.C.; Bérgamo,N.A.; Reis,P.P.; Kowalski,L.P.; Rogatto,S.R..
Loss of Y-chromosome has been correlated with older age in males. Furthermore, current evidence indicates that Y-chromosome loss also occurs in several human tumors, including head and neck carcinomas. However, the association between Y nullisomy and the occurrence of neoplasias in elderly men has not been well established. In the present study, the association between Y-chromosome loss and head and neck carcinomas was evaluated by comparison to cells from peripheral blood lymphocytes and normal mucosa of cancer-free individuals matched for age using dual-color fluorescence in situ hybridization. Twenty-one patients ranging in age from 28 to 68 years were divided into five-year groups for comparison with 16 cancer-free individuals matched for age. The...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Fluorescence in situ hybridization; Y-chromosome; Chromosomal abnormalities; Head and neck cancer.
Ano: 2012 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2012000200013
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Prenatal diagnosis of fetal chromosomal abnormalities: report of an 18-year experience in a Brazilian public hospital Genet. Mol. Biol.
Kessler,Rejane G.; Sanseverino,Maria Teresa V.; Leistner-Segal,Sandra; Magalhães,José A.A.; Giugliani,Roberto.
The study of the fetal karyotype became an important tool for the fetal diagnosis of genetic diseases in the 1970s. Although application of this test has remained very restricted in Brazil, we had 905 referrals for prenatal fetal karyotyping between 1989 and 2007. In 879 cases, a fetal karyotype was obtained. We detected 74 abnormal karyotypes (8.4%), the majority being found when the prior indication was fetal malformation. When obtaining amniotic fluid or chorionic villus samples was difficult, alternative fetal materials (urine, cystic hygroma, cystic lung, intreperitoneal and cerebrospinal fluids) were collected and we had success in obtaining karyotypes in all 13 cases. Although, the option of terminating abnormal pregnancies does not legally exist in...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Prenatal diagnosis; Chromosomal abnormalities; Fetal malformations.
Ano: 2008 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000500004
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The Cytogenetic Examination as a Tool for the Diagnosis of Chromosomal Disorders International Journal of Morphology
Miziara,R. C; Marques,S. B. S; Marques,J. H. S; Rezende,C; Aquino,R; Cury Rodrigues,V; Azoubel,R.
Clinically significant chromosomal abnormalities occur in about 1% of children born alive. The objective of this work was to offer the patients and the families in the community for the service of the Integrated Clinic of Uniara Health (Araraquara and region), the examination of cariotype (cytogenetic study) for confirmation or exclusion of the diagnostic suspicion of chromosomal abnormalities as well as information (genetic counseling) for the prevention of occurrence and/or recurrence of these anomalies. In the period of one year and four months these were carried out in the Integrated Clinic of Uniara Health and directed for the Laboratory of Cytogenetic Human of the same institution in 66 cytogenetic studies. In 44 patients (66.6%) the results were...
Tipo: Journal article Palavras-chave: Cytogenetic studies; Chromosomal abnormalities; Genetic counseling.
Ano: 2011 URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0717-95022011000100009
Registros recuperados: 9
Primeira ... 1 ... Última
 

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