Results 71 to 80 of about 1,062,540 (244)

Monogenic Diabetes: Genetic Insight and Precision Therapeutics in the Management of MODY

Exon
A 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, Kala vetha Kumari, Ariya S S, Princy Vijayababu   +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, Aaron Chapla, Nishanth Arulappan, Nihal Thomas   +3 more
doaj   +1 more source

Cytogenetic and Molecular Findings in Hydrops‐Related Mirror Syndrome

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Mirror syndrome is a rare, life‐threatening condition in which maternal fluid overload mirrors fetal hydrops. Data on genetic findings in affected pregnancies are limited. We compared genetic diagnoses in hydrops cases with and without mirror syndrome.
Brian A. Burnett, Christian M. Parobek, Jessian L. Munoz, Lauren E. Westerfield, Kristi Poling, Cara Buskmiller, Amir A. Shamshirsaz, Roopali V. Donepudi, Ignatia B. Van den Veyver, Magdalena Sanz Cortes, Michael A. Belfort, Ahmed A. Nassr   +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, SEEMA eBHASKAR, GIRIRAJ RATAN eCHANDAK   +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, Chris Hyde, Rob Anderson, Ewan Pearson, Beverley Shields, Maggie Shepherd, Timothy James McDonald, Sophie King, Michelle Hudson   +8 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, Jan‐Philipp Bodenbender, David A. Merle, Milda Reith, Anton Sonntag, Krunoslav Stingl, Tobias B. Haack, Theresia Zuleger, Bernd Wissinger, Laura Kühlewein, Katarina Stingl, Susanne Kohl   +11 more
wiley   +1 more source

Bioinformatics pipeline for the systematic mining genomic and proteomic variation linked to rare diseases: The example of monogenic diabetes.

PLoS ONE
Monogenic 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, Jakub Vašíček, Dafni Skiadopoulou, Janne Molnes, Miriam Udler, Stefan Johansson, Pål Rasmus Njølstad, Alisa Manning, Marc Vaudel   +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, Lilian A. Caetano, Aline D. Costa‐Riquetto, Pedro C. Franco, Renata P. Dotto, André F. Reis, Letícia S. Weinert, Sandra P. Silveiro, Marcio F. Vendramini, Flaviene A. doPrado, Giovanna C. P. Abrahão, Ana Gregória F. P. deAlmeida, Maria da G. Rodrigues Tavares, Wagner Rodrigo B. Gonçalves, Augusto C. Santomauro Junior, Bruno Halpern, Alexander A. L. Jorge, Marcia Nery, Milena G. Teles   +18 more
doaj   +1 more source

Maturity onset diabetes of the young: Diagnosis and treatment options

Russian Open Medical Journal, 2016
Diabetes is a complicated disease, so multiple factors are involved in its development. Nevertheless some of the patients with type 1 and 2 diabetes mellitus have a monogenic form of this disease which has different treatment options and usually fewer ...
Serghei Covanțev, Andrian Chiriac, Ludmila Perciuleac, Vladlena Zozina   +3 more
doaj   +1 more source

Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetes.

, 2007
An important question in human genetics is the extent to which genes causing monogenic forms of disease harbor common variants that may contribute to the more typical form of that disease.
Walker, Mark, Hattersley, AT, McCarthy, MI, Ardlie, KG, Weedon, Michael N., Weedon, MN, Purcell, Shaun, Hitman, Graham, Winckler, Wendy, Walker, M, Bengtsson Boström, Kristina, Almgren, Peter,, Winckler, W, Bengtsson Boström, Kristina,, Boström, KB, McCarroll, SA, Graham, Robert R., Gaudet, Daniel, Almgren, Peter, Almgren, P, Hitman, G, Frayling, Timothy M., Graham, RR, Hirschhorn, Joel N., Tuomi, T, Groop, L, Hirschhorn, JN, Hattersley, Andrew T., McCarrolll, Steven A., Groop, Leif, Daly, Mark J., Daly, MJ, McCarthy, Mark I., Altshuler, D, Purcell, S, Gaudet, D, Ardlie, Kristin G., Lund University., Frayling, TM, Tuomi, Tiinamaija, Altshuler, David   +40 more
core   +1 more source