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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 ...
The first report of the human platelet alloantigen 4b allele in a Brazilian
(Blackwell Publishing, 2005-06-01)
The human platelet alloantigen (HPA) 4b allele is rarely observed in Caucasians and the observed incidence in Asians is usually lower than 1.0%. We report the first Brazilian with the allele HPA-4b, and were able to ...
Analysing an allelic series of rare missense variants of 1 CACNA1I in a Swedish schizophrenia cohort
(2021)
CACNA1I is implicated in the susceptibility to schizophrenia by large-scale genetic association studies of single nucleotide polymorphisms. However, the channelopathy of CACNA1I in schizophrenia is unknown. CACNA1I encodes ...
Analysing an allelic series of rare missense variants of CACNA1I in a Swedish schizophrenia cohort
(2021)
CACNA1I is implicated in the susceptibility to schizophrenia by large-scale genetic association studies of single nucleotide polymorphisms. However, the channelopathy of CACNA1I in schizophrenia is unknown. CACNA1I encodes ...
Linkage disequilibrium patterns, population structure and diversity analysis in a worldwide durum wheat collection including Argentinian genotypes
(BioMed Central, 2021-04-05)
Background: Durum wheat (Triticum turgidum L. ssp. durum Desf. Husn) is the main staple crop used to make pasta products worldwide. Under the current climate change scenarios, genetic variability within a crop plays a ...
Genomic ancestry, CYP2D6, CYP2C9 and CYP2C19 among Latin-Americans
(Wiley, 2019)
We present the distribution of CYP2D6, CYP2C9 and CYP2C19 variants and predicted phenotypes in 33 native and admixed populations from Ibero-America (n>6,000) in the context of genetic ancestry (n=3,387). Continental ...