Genes Deletion
Mostrando 1-12 de 4624 artigos, teses e dissertações.
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1. The study of copy number variations in the regions of PRKAB2 and PPM1K among congenital heart defects patients
RESUMO OBJETIVO: Este estudo teve como objetivo avaliar a associação genética do número de cópias em dois genes (PRKAB2 e PPM1K) localizados em duas regiões (tetralogia de Fallot e comunicação interventricular) em uma população chinesa da etnia Han. METODOLOGIA: Um total de 200 pacientes com doença cardíaca congênita (100 pacientes com tetralo
Rev. Assoc. Med. Bras.. Publicado em: 22/07/2019
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2. Análise comparativa do polimorfismo genético da glutationa transferase, do Helicobacter pylori e do vírus Epstein-Barr entre a área do tumor e as margens de ressecção proximal e distal do câncer gástrico.
RESUMO Objetivo: comparar o polimorfismo dos genes Glutationa S-transferase teta 1 (GSTT1) e Glutationa S-transferase mu 1 (GSTM1) da área do tumor com as margens proximal e distal de espécimes de estômago ressecados de pacientes com câncer gástrico, e investigar a presença do DNA do vírus Epstein-Barr (EBV) e Helicobacter pylori. Métodos: coletamo
Rev. Col. Bras. Cir.. Publicado em: 31/01/2019
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3. AVANÇOS RECENTES EM BIOSSÍNTESE COMBINATÓRIA DE POLICETÍDEOS: PERSPECTIVAS E DESAFIOS
Natural products continue to inspire scientists on the search for biological active structures. Recent advances in synthetic biology allow modifying genes to extend structural diversity present on natural products by changing important functional groups guided through genetic information. In this context, polyketides synthases (PKS) represent a class of enzy
Quím. Nova. Publicado em: 2019-01
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4. Intestinal cell migration damage induced by enteropathogenic Escherichia coli strains
Epithelial cell migration is an essential response to enteric pathogens such as enteropathogenic Escherichia coli (EPEC). This study aimed to investigate the effects of EPEC infection on intestinal epithelial cell migration in vitro, as well as the involvement of type III secretion system (T3SS) and Rho GTPases. Crypt intestinal epithelial cells (IEC-6) were
Braz J Med Biol Res. Publicado em: 26/07/2018
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5. Combined GSTM1 and GSTT1 null genotypes are strong risk factors for atherogenesis in a Serbian population
Abstract Oxidative stress (OS) plays an important role in atherogenesis and since glutathione S-transferases (GSTs) provide protection against OS, we have tested the hypothesis that deletion polymorphisms in two GSTs (GSTM1 and GSTT1) may affect the risk of developing atherosclerosis. A total of 382 individuals (200 patients with atherosclerosis and 182 heal
Genet. Mol. Biol.. Publicado em: 2018-03
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6. Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?
Abstract CHIME syndrome is an extremely rare autosomal recessive multisystemic disorder caused by mutations in PIGL. PIGL is an endoplasmic reticulum localized enzyme that catalyzes the second step of glycosylphosphatidylinositol (GPI) biosynthesis, which plays a role in the anchorage of cell-surface proteins including receptors, enzymes, and adhesion molecu
Genet. Mol. Biol.. Publicado em: 19/02/2018
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7. Lack of association between rrl and erm(41) mutations and clarithromycin resistance in Mycobacterium abscessus complex
BACKGROUND Mycobacterium abscessus complex (MABC) includes species with high resistance rates among mycobacterial pathogens. In fact, MABC infections may not respond to clarithromycin treatment, which has historically been very effective against MABC infection. Molecular markers have been proposed to detect both acquired (rrl polymorphisms) and inducible (e
Mem. Inst. Oswaldo Cruz. Publicado em: 2017-11
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8. Rare α0-thalassemia deletions detected by MLPA in five unrelated Brazilian patients
Abstract Alpha-thalassemias are among the most common genetic diseases in the world. They are characterized by hypochromic and microcytic anemia and great clinical variability, ranging from a practically asymptomatic phenotype to severe anemia, which can lead to intrauterine or early neonatal death. Deletions affecting the α-globin genes, located on chromos
Genet. Mol. Biol.. Publicado em: 02/10/2017
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9. Virulence genes and genetic relationship of L. monocytogenes isolated from human and food sources in Brazil
ABSTRACT The herein presented assay provided a bacteriological and molecular characterization of 100 samples of L. monocytogenes isolated from human (43) and food (57) sources, from several regions of Brazil, and collected between 1975 and 2013. Antigenic characterization defined 49% of serotype 4b samples, followed by 28% of serotype 1/2b, 14% of serotype 1
Braz J Infect Dis. Publicado em: 2017-06
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10. 1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency
Abstract Deletion-induced hemizygosity may unmask deleterious autosomal recessive variants and be a cause of the phenotypic variability observed in microdeletion syndromes. We performed complete exome sequencing (WES) analysis to examine this possibility in a patient with 1p13.2 microdeletion. Since the patient displayed clinical features suggestive of Noona
Genet. Mol. Biol.. Publicado em: 04/08/2016
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11. Investigation of the GJB6 Deletion Mutations Del (GJB6-D13s1830) and Del (GJB6-D13s1854) in Iranian Patients with Autosomal-Recessive Non-Syndromic Hearing Loss (ARNSHL)
Hearing loss (HL) is the most common inherited sensory disorder affecting about 1 in 1000 births. The first locus for nonsyndromic autosomal recessive HL is on chromosome 13q11-22. The two genes, GJB2 and GJB6, are closely located on chromosome and are known to be co-expressed in the embryonic cochlea. Deletion mutations involving GJB6 were associated with a
Braz. arch. biol. technol.. Publicado em: 29/04/2016
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12. The complex translocation (9;14;14) involving IGH and CEBPE genes suggests a new subgroup in B-lineage acute lymphoblastic leukemia
Abstract Many subtypes of acute lymphoblastic leukemia (ALL) are associated with specific chromosomal rearrangements. The complex translocation t(9;14;14), a variant of the translocation (14;14)(q11;q32), is a rare but recurrent chromosomal abnormality involving the immunoglobulin heavy-chain (IGH) and CCAAT enhancer-binding protein (CEBPE) genes in B-lineag
Genet. Mol. Biol.. Publicado em: 2016-03