Buscar
Mostrando ítems 1-10 de 684
Atypical β-S haplotypes: classification and genetic modulation in patients with sickle cell anemia
(2019-03-01)
β-S globin haplotype (β S haplotype) characterization in sickle cell anemia (SCA) patients is important because it assists individualized treatment. However, the patient with atypical haplotypes do not present detailed ...
An extensive analysis of Y-chromosomal microsatellite haplotypes in globally dispersed human populations
(Cell Press, 2001-04)
The genetic variance at seven Y-chromosomal microsatellite loci (or short tandem repeats [STRs]) was studied among 986 male individuals from 20 globally dispersed human populations. A total of 598 different haplotypes were ...
A Comprehensive Haplotype Targeting Strategy for Allele-Specific HTT Suppression in Huntington Disease.
(Elsevier, 2019)
Huntington disease (HD) is a fatal neurodegenerative disorder caused by a gain-of-function mutation in HTT. Suppression of mutant HTT has emerged as a leading therapeutic strategy for HD, with allele-selective approaches ...
Association of haplotypes in the IL8 gene with susceptibility to chronic periodontitis in a Brazilian population
(Elsevier B.V., 2010-09-06)
Background: Interleukin 8 (IL-8) is a chemokine related to the initiation and amplification of acute and chronic inflammatory processes. Polymorphisms in the IL8 gene have been associated with inflammatory diseases. We ...
Association of haplotypes in the IL8 gene with susceptibility to chronic periodontitis in a Brazilian population
(Elsevier B.V., 2010-09-06)
Background: Interleukin 8 (IL-8) is a chemokine related to the initiation and amplification of acute and chronic inflammatory processes. Polymorphisms in the IL8 gene have been associated with inflammatory diseases. We ...
Association of haplotypes in the IL8 gene with susceptibility to chronic periodontitis in a Brazilian population
(ELSEVIER SCIENCE BV, 2010)
Background: Interleukin 8 (IL-8) is a chemokine related to the initiation and amplification of acute and chronic inflammatory processes. Polymorphisms in the IL8 gene have been associated with inflammatory diseases. We ...
Multivariate meta-analysis of the association of G-protein beta 3 gene (GNB3) haplotypes with cardiovascular phenotypes
(Springer Science+Business Media DordrechtDordrecht, 2014-05)
The objective of the present study was to review previous investigations on the association of haplotypes in the G-protein β3 subunit (GNB3) gene with representative cardiovascular risk factors/phenotypes: hypertension, ...
Matrix metalloproteinase (MMP)-2 gene polymorphisms affect circulating MMP-2 levels in patients with migraine with aura
(Elsevier Science BvAmsterdamHolanda, 2013)
Phenylketonuria in Costa Rica: preliminary spectrum of PAH mutations and their associations with highly polymorphic haplotypes
(1996)
A preliminary evaluation of the molecular basis of phenylketonuria (PKU) in Costa Rica was made by performing mutational analyses in the six PKU families identified to date. These studies revealed the presence of the ...