Results 71 to 80 of about 1,130,327 (225)
Monogenic Diabetes: Genetic Insight and Precision Therapeutics in the Management of MODY
ExonA monogenic diabetes, specifically, the Maturity-onset diabetes of the young (MODY) is the consequence of the single-gene mutations that are responsible for transcription factors such as HNF1A and GCK taking effect on the insulin synthesis, glucose ...
Gayathri Venkatesan +3 more
doaj +1 more source
Molecular diagnosis of maturity onset diabetes of the young in India
Indian Journal of Endocrinology and Metabolism, 2013 Diabetes is highly prevalent in India and the proportion of younger patients developing diabetes is on the increase. Apart from the more universally known type 1 diabetes and obesity related type 2 diabetes, monogenic forms of diabetes are also suspected
Veena V Nair +3 more
doaj +1 more source
Clinical manifestations of dual‐gene variants in retinitis pigmentosa
Acta Ophthalmologica, EarlyView.Abstract Purpose Retinitis pigmentosa (RP) is an inherited retinal disease (IRD), whereby each affected individual typically harbours pathogenic variants in a single causative gene, yet the disorder exhibits marked genetic heterogeneity, with more than 100 genes reported to underlie RP.
Lasse Wolfram +11 more
wiley +1 more source
New insights from monogenic diabetes for "common" type 2 diabetes
Frontiers in Genetics, 2015 Boundaries between monogenic and complex genetic diseases are becoming increasingly blurred, as a result of better understanding of phenotypes and their genetic determinants.
DIVYA SRI PRIYANKA eTALLAPRAGADA +2 more
doaj +1 more source
Strategies to identify individuals with monogenic diabetes: results of an economic evaluation
BMJ Open, 2020 Objectives To evaluate and compare the lifetime costs associated with strategies to identify individuals with monogenic diabetes and change their treatment to more appropriate therapy.Design A decision analytical model from the perspective of the ...
Jaime L Peters +8 more
doaj +1 more source
British Journal of Pharmacology, EarlyView.Created in BioRender. Schiavone, S. (2026). https://BioRender.com/cy0xq6z. Abstract Background and Purpose Autism spectrum disorders (ASD) are multifactorial neurodevelopmental conditions associated with oxidative stress and neuroinflammation across critical developmental periods.
Vladyslav Sikora +8 more
wiley +1 more source
PLoS ONEMonogenic diabetes is characterized as a group of diseases caused by rare variants in single genes. Like for other rare diseases, multiple genes have been linked to monogenic diabetes with different measures of pathogenicity, but the information on the ...
Ksenia G Kuznetsova +8 more
doaj +1 more source
Targeted sequencing identifies novel variants in common and rare MODY genes
Molecular Genetics & Genomic Medicine, 2019 Background Maturity‐onset diabetes of the young (MODY) is a form of monogenic diabetes with autosomal dominant inheritance. To date, mutations in 11 genes have been frequently associated with this phenotype.
Lucas S. deSantana +18 more
doaj +1 more source
Monogenic diabetes: could this be your patient?
, 2017 A correct diagnosis of monogenic diabetes can transform treatment options, writes Anita Murphy
Anita Murphy
core +1 more source
Liver Organoids: From Disease Modelling to Regenerative Medicine
Cell Proliferation, EarlyView.Liver organoids provide a versatile platform for disease modelling and drug discovery, leveraging stem cells and engineering techniques. They bridge research and clinical applications, offering significant potential for advancing precision medicine and regenerative therapies for liver diseases.
Tiepeng Wang +5 more
wiley +1 more source