Mendelian randomization (MR) is the use of genetic variants to assess the existence of a causal relationship between a risk factor and an outcome of interest. Here, we focus on two …
R Prakasam, A Bonadiman, R Andreotti… - Nature …, 2023 - nature.com
Spinobulbar muscular atrophy (SBMA) is caused by CAG expansions in the androgen receptor gene. Androgen binding to polyQ-expanded androgen receptor triggers SBMA …
PIHG Simons, O Valkenburg, MPH van de Waarenburg… - Diabetologia, 2023 - Springer
Aims/hypothesis Serum sex hormone-binding globulin (SHBG) has been proposed to act as a hepatokine that contributes to the extrahepatic complications observed in non-alcoholic …
SA Safizadeh Shabestari, N Nassir, S Sopariwala… - Human Genetics, 2023 - Springer
Neurodevelopmental disorders (NDDs) and congenital anomalies (CAs) are rare disorders with complex etiology. In this study, we investigated the less understood genomic overlap of …
Introduction: Copy number variations (CNVs) play a critical role in the pathogenesis of neurodevelopmental disorders (NDD) among children. In this study, we aim to identify …
The Framingham Heart Study (FHS) began in 1949 with the goal of defining the epidemiology of hypertensive or arteriosclerotic heart disease in the population of …
M Nunziato, GL Scaglione, F Di Maggio, C Nardelli… - Clinica Chimica …, 2023 - Elsevier
BRCA1 and BRCA2 are the most mutated genes in breast cancer. We analyzed 48 breast cancer subjects using two methods that differ in terms of number of genes investigated and …
Male infertility is significantly influenced by the plasma-protein sex hormone-binding globulin (SHBG). Male infertility, erectile dysfunction, prostate cancer, and several other …
A Mohammadrezaei… - Nutrition and …, 2023 - journals.sagepub.com
Background: Males are more likely than females to suffer from cardiovascular disease (CVD). So, sex hormones may modify these variations and affect the lipid profile. We …