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Registros recuperados: 6
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Lack of association between parenchymal neurocysticercosis and HLA Class I and Class II antigens Genet. Mol. Biol.
Bompeixe,Eni Picchioni; Costa,Sonia Maria Correia Machado da; Arruda,Walter Oleschko; Petzl-Erler,Maria Luiza.
Neurocysticercosis, caused by encysted larvae of the tapeworm Taenia solium, is the most common infection of the central nervous system and a major public health problem in many countries. Prevalence in the region of Curitiba, located in the southern Brazilian State of Paraná, is one of the highest in the world. The genetics of host susceptibility to neurocysticercosis (NCC) is still obscure. To investigate if major histocompatibility complex (MHC) genes influence individual susceptibility to NCC, we performed a case-control association analysis. Fifty-two Caucasoid patients and 149 matched controls were typed for antigens of the HLA-A, B, C, DR and DQ loci. All patients had computerized tomography and clinical features compatible with parenchymal NCC....
Tipo: Info:eu-repo/semantics/article
Ano: 1999 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571999000100002
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Absence of the -116A variant of the butyrylcholinesterase BCHE gene in Guarani Amerindians from Mato Grosso do Sul Genet. Mol. Biol.
Nunes,Kelly; Souza,Ricardo L.R.; Furtado-Alle,Lupe; Tsuneto,Luiza T.; Petzl-Erler,Maria Luiza; Chautard-Freire-Maia,Eleidi A..
Butyrylcholinesterase (BChE; EC 3.1.1.8; Online Mendelian Inheritance in Man (OMIM) number 177400) is an enzyme found in many human tissues and encoded by the BCHE gene, of which 65 variants have been identified. In a recent study we found that the -116A variant of exon 1 of the BCHE gene was associated with lower mean BChE activity. The present study analyzed the -116 single nucleotide polymorphism (SNP) in 253 Guarani Amerindian Brazilians from the state of Mato Grosso do Sul (148 Guarani-Kaiowá, 83 Guarani-Ñandeva and 22 Kaiowá-Ñandeva descendants) and verified that they were all homozygotic for the -116G variant. A comparative analysis of the -116 site in nine vertebrate species indicated the -116A variant as the ancestral type. This is the first study...
Tipo: Info:eu-repo/semantics/other Palavras-chave: Amerindians; BCHE gene; Guarani-Kaiowá; Guarani-Ñandeva.
Ano: 2008 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000100004
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Programmed cell death 1 gene (PDCD1) polymorphism and pemphigus foliaceus (fogo selvagem) disease susceptibility Genet. Mol. Biol.
Braun-Prado,Karin; Petzl-Erler,Maria Luiza.
Pemphigus foliaceus, also known as fogo selvagem, is an autoimmune disease of the epidermis characterized by superficial blisters and antibodies against desmoglein 1. It is a multifactorial disease and genetic susceptibility is oligogenic or polygenic. Considering the crucial function of the programmed cell death 1 molecule (PD-1) in the immune response, the aim of this study was to verify if variants of the PDCD1 gene influence susceptibility and resistance to pemphigus foliaceus, in a case - control disease association study. We analyzed patients (n = 154) and unaffected control individuals (n = 325) of the Brazilian population, in respect to the PD1.3(G,A) PD1.5(C,T) and PD1.6(A,G) single nucleotide polymorphisms (SNPs) and also investigated, for the...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Genetic association; PD-1; PDCD1; Genetic polymorphism; Pemphigus.
Ano: 2007 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000300003
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Butyrylcholinesterase genetic variability in Guarani Amerindians from the Brazilian state of Mato Grosso do Sul Genet. Mol. Biol.
Furtado,Lupe; Souza,Ricardo L. R.; Tsuneto,Luiza T.; Petzl-Erler,Maria Luiza; Chautard-Freire-Maia,Eleidi A..
Human butyrylcholinesterase (BChE; EC 3.1.1.8) is a polymorphic enzyme coded by the BCHE gene (3q26.1-q26.2) while the CHE2 gene (2q33-q35) determines a still not characterized substance that forms a complex with BChE (C5), being the CHE2 C5+ and CHE2 C5- phenotypes detected in electrophoresis. The present study investigated BCHE and CHE2 variability and the BChE activity of Brazilian Guarani Amerindians from the Kaiowá and Ñandeva sub-groups living in several indigenous territories in the Brazilian state of Mato Grosso do Sul. The frequency of the BCHE exon 2 D70G (A) allele was 0.60% ± 0.35% while that of the BCHE exon 2 G390V (F-2) allele, never before screened in Amerindians, was 8.82% ± 1.35%. This is the first time that the BCHE gene exon 4 A539T (K)...
Tipo: Info:eu-repo/semantics/article Palavras-chave: BCHE gene; A allele; F-2 and K alleles; Guarani-Kaiowá; Guarani-Ñandeva.
Ano: 2006 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000100002
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CTLA4 CT60 gene polymorphism is not associated with differential susceptibility to pemphigus foliaceus Genet. Mol. Biol.
Pincerati,Márcia Regina; Dalla-Costa,Ricardo; Petzl-Erler,Maria Luiza.
Pemphigus foliaceus is an organ-specific autoimmune disease characterized by autoantibodies against the extracellular region of desmoglein 1, a protein that mediates intercellular adhesion in desmosomes. Cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) is a key negative regulator of the T cell immune response, playing an important role in T cell homeostasis and maintenance of peripheral tolerance. Polymorphisms in the CTLA4 gene have been associated with autoimmune diseases and the functional CT60 single nucleotide polymorphism (rs3087243, also named 6230G > A) has been proposed to be a casual variant in several of these diseases. The aim of this study was to ascertain whether this polymorphism is associated with inter-individual variation in...
Tipo: Info:eu-repo/semantics/article Palavras-chave: CTLA4; CT60 polymorphism; Pemphigus; Fogo selvagem; Autoimmunity.
Ano: 2010 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000300008
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Analysis of the CCR5 gene coding region diversity in five South American populations reveals two new non-synonymous alleles in Amerindians and high CCR5*D32 frequency in Euro-Brazilians Genet. Mol. Biol.
Boldt,Angelica B.W.; Culpi,Lodércio; Tsuneto,Luiza T.; Souza,Ilíada R.; Kun,Jürgen F.J.; Petzl-Erler,Maria Luiza.
The CC chemokine receptor 5 (CCR5) molecule is an important co-receptor for HIV. The effect of the CCR5*D32 allele in susceptibility to HIV infection and AIDS disease is well known. Other alleles than CCR5*D32 have not been analysed before, neither in Amerindians nor in the majority of the populations all over the world. We investigated the distribution of the CCR5 coding region alleles in South Brazil and noticed a high CCR5*D32 frequency in the Euro-Brazilian population of the Paraná State (9.3%), which is the highest thus far reported for Latin America. The D32 frequency is even higher among the Euro-Brazilian Mennonites (14.2%). This allele is uncommon in Afro-Brazilians (2.0%), rare in the Guarani Amerindians (0.4%) and absent in the Kaingang...
Tipo: Info:eu-repo/semantics/article Palavras-chave: CCR5; Brazilian; Amerindian; HIV; Polymorphism.
Ano: 2009 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000100002
Registros recuperados: 6
Primeira ... 1 ... Última
 

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