Negative / Null Result ReportOpen accessGenetics
Tug E., Sengül N., Aydin H. et al. · 2012 · Balkan Journal of Medical Genetics
Interactions between individual genetic and environ- mental factors determine the onset of the multi nodular goiter (MNG). The thyroid-stimulating hormone receptor (TSHR) gene is a convincing candidate gene in the pathogenesis of certain thyroid diseases including MNG. We investigated the codon 727 polymorphism (p.Asp727Glu, p.D727E) of the human TSHR gene using the polymerase chain reaction-restriction fragment length polymorphim (PCR-RFLP) methods in 31 Turkish patients with MNG and in 30 control subjects, aiming to evaluate the relationship between this polymorphism and MNG. After genomic D
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Sabrina E.M. Almeida, Luciana B.S. Santos, Daniel T. Passos et al. · 2008 · Genetics and Molecular Biology
The genetic diversity of a single nucleotide polymorphism (SNP) at the exon 20 (T945M) of the leptin receptor gene (LEPR) and of three short tandem repeats (STRs BM7225, BMS694, and BMS2145) linked to LEPR was investigated in three beef cattle herds (Brangus Ibagé, Charolais, and Aberdeen Angus). A cheap and effective new method to analyze the T945M polymorphism in cattle populations was developed and the possible role of these polymorphisms in reproduction and weight gain of postpartum cows was evaluated. High levels of genetic diversity were observed with the average heterozygosity of STRs r
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Yun-Hsuan Chang, Yun-Hsuan Chang, Yun-Hsuan Chang et al. · 2018 · Frontiers in Genetics
Studies suggest that a functional polymorphism of brain-derived neurotrophic factor (BDNF), polymorphism BDNF Val66Met affects cognitive functions, however, the effect is unclear in bipolar II (BD-II) disorder. We used the Wechsler Memory Scale-third edition (WMS-III), the presence of the BDNF Val66Met polymorphism, and plasma concentrations of BDNF to investigate the association between memory impairment and BDNF in BD-II disorder. We assessed the memory functions of 228 BD-II patients and 135 healthy controls (HCs). BD-II patients had significantly lower scores on five of the eight WMS-III s
View details →Negative / Null Result ReportOpen accessGenetics
Erik Artur Cortinhas-Alves, Victor Henrique Botelho Lourenço, Andreza Juliana Moreira da Costa et al. · 2025 · Genetics and Molecular Biology
ABSTRACT The literature shows a correlation between ethnicity and pathogenic variants of the thyroid stimulating hormone receptor (TSHR) gene. Some of these polymorphisms may be risk factors for the development of primary congenital hypothyroidism (PCH). In this study, we investigated the relationship between the frequency of TSHR gene polymorphisms and the genetic influence of African, Amerindian, and European ancestry-informative markers in patients from an Amazonian population in Brazil who were diagnosed with PCH. The study was conducted on samples from 106 patients who were diagnosed with
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