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1.
Dis Markers ; 2019: 2846394, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31275445

RESUMO

Autism spectrum disorders (ASDs) are heterogeneous diseases that are triggered by a number of environmental and genetic factors. The aim of the current study was to investigate an association of the rs1799836 genetic variant of the neurotransmitter-related gene MAOB with ASDs. In total, 262 patients diagnosed with ASDs and their 126 healthy siblings were included in the present study. All individuals represented a Kazakhstani population. The distributions of the rs1799836 genotype were in accordance with the Hardy-Weinberg equilibrium among both cases and controls. No statistically significant differences were found in the allelic distributions of this polymorphism between ASD and control subjects (A/G: for males OR = 1.11, 95% 0.59-2.06, p = 0.75; for females OR = 1.14, 95% 0.70-1.86, p = 0.76). However, the increased score in the overall CARS was significantly associated with the A allele of rs1799836 MAOB for females (OR = 2.31, 95% 1.06-5.04, p = 0.03). The obtained results suggest that the rs1799836 polymorphism of the MAOB gene may have little contribution to the development of ASDs but may be involved in pathways contributing to ASD symptom severity in females. Further large-scale investigations are required to uncover possible relationships between rs1799836 MAOB and ASD progression in a gender-specific manner and their possible application as a therapeutic target.


Assuntos
Transtorno do Espectro Autista/genética , Monoaminoxidase/genética , Polimorfismo de Nucleotídeo Único , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Cazaquistão , Masculino , Irmãos
2.
Expert Rev Proteomics ; 11(2): 227-36, 2014 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-24611567

RESUMO

The nine FDA-approved protein biomarkers for the diagnosis and management of cancer are approaching maturity, but their different glycosylation compositions relevant to early diagnosis still remain practically unexplored at the sub-glycoproteome scale. Lectins generally exhibit strong binding to specific sub-glycoproteome components and this property has been quite poorly addressed as the basis for the early diagnosis methods. Here, we discuss some glycoproteome issues that make tackling the glycoproteome particularly challenging in the cancer biomarkers field and include a brief view for next generation technologies.


Assuntos
Biomarcadores Tumorais/análise , Glicoproteínas/metabolismo , Lectinas/química , Neoplasias/diagnóstico , Proteoma/análise , Biomarcadores Tumorais/metabolismo , Humanos , Neoplasias/metabolismo , Proteoma/metabolismo , Estados Unidos , United States Food and Drug Administration
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