Tri-allelic expression of HLA gene in 46,XX/46,XY chimerism.
Sign Up to like & getrecommendations! Published in 2019 at "Transplant immunology"
DOI: 10.1016/j.trim.2018.12.004
Abstract: INTRODUCTION Chimerism is defined as coexistence of different cell lines in an individual. 46,XX/46,XY chimerism is very rare and exhibits broad range of clinical phenotypes. Most cases are detected at infancy or younger age due… read more here.
Keywords: hla alleles; chimerism; hla; expression hla ... See more keywords
Tri-allelic heteroplasmies, DNA-RNA differences and their polynucleotide tract associations in the mitochondrial genome.
Sign Up to like & getrecommendations! Published in 2017 at "Genomics"
DOI: 10.1016/j.ygeno.2017.09.013
Abstract: The human mitochondrial genome has been extensively studied for its function and disease associations. Utilizing five types of high-throughput sequencing data on ten breast cancer patients (total N=50), we examined several aspects of the mitochondrial… read more here.
Keywords: allelic heteroplasmies; dna rna; mitochondrial genome; tri allelic ... See more keywords
Detection of Tri-allelic Single Nucleotide Polymorphisms of ABCB1 and CRP Genes by Penta-Primer Amplification Refractory Mutation System-Polymerase Chain Reaction.
Sign Up to like & getrecommendations! Published in 2022 at "Genetic testing and molecular biomarkers"
DOI: 10.1089/gtmb.2021.0145
Abstract: Objective: The standard methods for tri-allelic single nucleotide polymorphism (SNP) genotyping require special equipment and are costly to perform. The aim of this study was to establish a fast, simple, and low-cost method to differentiate… read more here.
Keywords: amplification refractory; genotype; primer amplification; refractory mutation ... See more keywords
Association of Serotonin Transporter Gene (5-HTTLPR/rs25531) Polymorphism with Comorbidities of Panic Disorder
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DOI: 10.1159/000512699
Abstract: Introduction: Panic disorder (PD) has many comorbidities such as depression, bipolar disorder (BPD), and agoraphobia (AG). PD is a moderately heritable anxiety disorder whose pathogenesis is not well understood. Recently, a tri-allelic serotonin transporter (5-HTTLPR/rs25531)… read more here.
Keywords: rs25531 polymorphism; httlpr rs25531; disorder; httlpr ... See more keywords
Can Digenic, Tri-Allelic Inheritance of Variants in STAR and CYP11A1 Give Rise to Primary Adrenal Insufficiency? A Case Report
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Endocrinology"
DOI: 10.3389/fendo.2022.860055
Abstract: An eight-year old South Asian boy presenting with progressive hyperpigmentation was found to have primary adrenal insufficiency (PAI) in the form of isolated glucocorticoid deficiency. Follow up of this boy for nine years, until the… read more here.
Keywords: adrenal insufficiency; variants star; allelic inheritance; cyp11a1 ... See more keywords