Institute of Biomedical & Clinical Science: Recent submissions
Now showing items 46-50 of 1236
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Simulated distributions from negative experiments highlight the importance of the body mass index distribution in explaining depression–body mass index genetic risk score interactions
(Oxford University Press, 7 April 2022)Abstract. Background: Depression and obesity are complex global health problems. Recent studies suggest a genetic predisposition to obesity might be accentuated in people with depression, but these analyses are prone ... -
Multi-ancestry genome-wide association study of gestational diabetes mellitus highlights genetic links with type 2 diabetes
(Oxford University Press (OUP), 26 February 2022)Gestational diabetes mellitus (GDM) is associated with increased risk of pregnancy complications and adverse perinatal outcomes. GDM often reoccurs and is associated with increased risk of subsequent diagnosis of type 2 ... -
Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency
(Elsevier / American College of Medical Genetics and Genomics, 30 November 2021)PURPOSE: We previously defined biallelic HYAL2 variants causing a novel disorder in 2 families, involving orofacial clefting, facial dysmorphism, congenital heart disease, and ocular abnormalities, with Hyal2 knockout mice ... -
Independent and interactive associations of dietary nitrate and salt intake with blood pressure and cognitive function: a cross-sectional analysis in the InCHIANTI study
(Taylor & Francis, 16 November 2021)Blood pressure (BP) control is a key target for interventions to reduce cognitive decline. This cross-sectional study explored associations between objective (24-hour urine excretion) and subjective (food frequency ... -
Evaluation of Evidence for Pathogenicity Demonstrates that BLK, KLF11 and PAX4 Should not be Included in Diagnostic Testing for MODY
(American Diabetes Association, 2 February 2022)Maturity Onset Diabetes of the Young (MODY) is an autosomal dominant form of monogenic diabetes, reported to be caused by variants in 16 genes. Concern has been raised about whether variants in BLK (MODY11), KLF11 (MODY7) ...