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Evaluation of the implementation in primary care of genetic testing for the screening of MODY2 (iMOgene): protocol for an implementation pilot study.
BMJ Open
January 2025
Research Centre of Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-Saint-Jean (CIUSSS-SLSJ), Saguenay, Quebec, Canada
Introduction: MODY2 (maturity-onset diabetes of the young type 2, MIM125851) is a monogenic diabetes with an autosomal dominant transmission caused by a variant of the gene. MODY2 is often confused with type 1 or type 2 diabetes, but despite a slightly elevated blood glucose level, it does not induce long-term vascular complications, nor does it require pharmacological treatment. Genetic testing for the diagnosis of MODY2 is currently reserved for genetic specialists and some physicians.
View Article and Find Full Text PDFAdvancing Monogenic Diabetes Research and Clinical Care by Creating a Data Commons: The Precision Diabetes Consortium (PREDICT).
J Diabetes Sci Technol
January 2025
Department of Medicine, The University of Chicago, Chicago, IL, USA.
Monogenic diabetes mellitus (MDM) is a group of relatively rare disorders caused by pathogenic variants in key genes that result in hyperglycemia. Lack of identified cases, along with absent data standards, and limited collaboration across institutions have hindered research progress. To address this, the UChicago Monogenic Diabetes Registry (UCMDMR) and UChicago Data for the Common Good (D4CG) created a national consortium of MDM research institutions called the PREcision DIabetes ConsorTium (PREDICT).
View Article and Find Full Text PDFExploring the therapeutic potential of precision medicine in rare genetic obesity disorders: a scientific perspective.
Front Nutr
December 2024
Faculty of Medicine, Diabetes Center, University of Geneva, Geneva, Switzerland.
The prevalence of obesity is increasing worldwide, affecting both children and adults. This obesity epidemic is mostly driven by an increase in energy intake (abundance of highly palatable energy-dense food and drinks) and to a lesser degree a decrease in energy expenditure (sedentary lifestyle). A small proportion of individuals with obesity are affected by genetic forms of obesity, which often relate to mutations in the leptin-melanocortin pathway or are part of syndromes such as the Bardet-Biedl syndrome.
View Article and Find Full Text PDFA novel BLK heterozygous mutation (p.Met121lle) in maturity-onset diabetes mellitus: A case report and literature review.
Diabet Med
January 2025
Key Laboratory of Endocrine Gland Diseases of Zhejiang Province, Department of Endocrinology, Geriatric Medicine Center, Zhejiang Provincial People's Hospital (Affiliated People's Hospital, Hangzhou Medical College), Hangzhou, China.
Maturity onset diabetes of the young (MODY) is a highly heterogeneous monogenic disease that occurs due to β-cell dysfunction. It is divided into different types depending on the gene mutated, and a total of 16 genes have been found to be associated with MODY. However, due to the current lack of understanding of monogenic diabetes, 90% of MODY is currently misdiagnosed and ignored in clinical practice.
View Article and Find Full Text PDFWhole exome sequencing revealed new variants and haplotypes associated with monogenic obesity.
J Diabetes Metab Disord
June 2025
Metabolic Disorders Research Center, Endocrinology and Metabolism Molecular-Cellular Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran.
Objectives: This study aims to identify new variants and haplotypes associated with monogenic obesity by analyzing known obesity genes in whole exome sequencing (WES) data.
Methods: The monogenic obesity-associated genes were identified by using the National Institutes of Health (NIH) Genetic Testing Registry (GTR) monogenic obesity panels. WES was performed on ( = 49) extremely obese (children under 5 with weight-for-height greater than 3 standard deviations (SD) above the World Health Organization (WHO) Child Growth Standards median) and ( = 50) control nonobese (25 > body mass index (BMI) < 30) subjects without a history of childhood obesity, and also Iranome WES data of healthy subjects ( = 800).
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