Results 111 to 120 of about 185,337,215 (295)

Increased Insulin Action, Glucose Metabolism and Muscle Function in Supervillin‐Knockout and Supervillin‐Mutant Mice

Cytoskeleton, EarlyView.
ABSTRACT We here describe mouse models with complementary homozygous Svil mutations. In skeletal muscle, Svil‐Mut mice express the Svil‐encoded N‐terminus fused to the βgal‐neo gene‐trap tag and lack the highly conserved archvillin C‐terminus; Svil‐KO mice lack expression of all known Svil‐encoded proteins; and Svil‐LoxP mice contain loxP sites for ...
Tara C. Smith, Lauren A. Tauer, Randall H. Friedline, Xiaodi Hu, Duy Tran, Yangyi E. Luo, Nacima Hadjout‐Rabi, Elisabeth R. Barton, Jason K. Kim, Elizabeth J. Luna   +9 more
wiley   +1 more source

Maturity Onset Diabetes of the Young (MODY): French National Diagnosis and Care Protocol (PNDS, Protocole National de Diagnostic et de Soins)

Orphanet Journal of Rare Diseases
MODY (Maturity-Onset Diabetes of the Young) is characterized by autosomal dominant mode of inheritance, early onset of diabetes in the absence of autoimmunity directed to pancreatic β-cells, impaired insulin secretory capacity, however, maintained over ...
Danièle Dubois-Laforgue, Bruno Donadille, Cécile Ciangura , Chloé Amouyal, Jean-Baptiste Arnoux, Pascal Barat, Sabine Baron, Jacques Beltrand, Elise Bismuth, Clara Bouché, Jean-Claude Carel, Hélène Cavé, Sophie Christin-Maitre, Delphine Collin-Chavagnac, Christiane Damgé, Brigitte Delemer, Pierre Gourdy , Sophie Jacqueminet, Sonja Janmaat , Marc de Kerdanet, Laurence Kessler, Dominique Langin , Jean-Charles Nault, Jacky Nizard, Michel Polak , Rachel Reynaud, Cécile Saint-Martin, Igor Tauveron, René Valéro, Anne Vambergue, Marie-Christine Vantyghem, Camille Vatier, Marc Nicolino, Christine Bellanné-Chantelot, Corinne Vigouroux   +34 more
doaj   +1 more source

Diabetic vascular disease and Maturity-onset diabetes of the young

, 2016
Aim: Vascular disease such as cardiovascular and cerebrovascular diseases, or retinopathy, nephropathy and neuropathy are common in diabetes.
Mafra, J.M., Bourbon, Mafalda, Gaspar, G.   +2 more
core  

Maturity onset diabetes of the young in pregnancy: diagnosis, management and prognosis of MODY in pregnancy

, 2017
Current management guidelines of diabetes within pregnancy do not differentiate between the underlying physiological dysfunctions that lead to dysglycaemia and provide generic guidance.
Dharmintra Pasupathy, Anita Banerjee, Reed, A., A. Reed, Rees, Kate, Pasupathy, Dharmintra, Kate Rees, Banerjee, Anita   +7 more
core   +1 more source

Artificial Intelligence in Ophthalmology: From Methodological Advances to Clinical Translation and Future Directions

Eye &ENT Research, EarlyView.
ABSTRACT Artificial intelligence (AI) is reshaping ophthalmology from task‐specific image analysis toward multimodal, longitudinal, and clinically integrated decision support. This narrative review summarizes the methodological evolution of ophthalmic AI, including traditional machine learning, task‐specific deep learning, self‐supervised learning ...
Yuxin Liu, Hanruo Liu
wiley   +1 more source

Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes

, 1992
We describe a codon 299 mutation in the glucokinase gene in a British pedigree with maturity-onset diabetes of the young (MODY) resulting in a substitution of glycine to arginine.
Wainscote, J.S., Turner, R.C., J.S. Wainscoat, Lo, Y.M., P. Patel, Stoffel, M., Bell, J.I., Bell, G.I., A.M. Lucassen, G.I. Bell, R.C. Turner, Y-M.D. Lo, R. Page, Lucassen, A., M. Stoffel, Patel, P., A.T. Hattersley, J.I. Bell, Page, R., Hattersley, A.T.   +19 more
core   +1 more source

Commonalities of platelet dysfunction in heart failure with preserved ejection fraction and underlying comorbidities

ESC Heart Failure, Volume 12, Issue 2, Page 1013-1028, April 2025.
Abstract Heart failure with preserved ejection fraction (HFpEF) is characterized by a lack of a specific targeted treatment and a complex, partially unexplored pathophysiology. Common comorbidities associated with HFpEF are hypertension, atrial fibrillation, obesity and diabetes.
Giorgia D'Italia, Blanche Schroen, Judith M.E.M. Cosemans   +2 more
wiley   +1 more source

The effects of sodium–glucose cotransporter 2 inhibitors on the ‘forgotten’ right ventricle

ESC Heart Failure, Volume 12, Issue 2, Page 1045-1058, April 2025.
Abstract With the progress in diagnosis, treatment and imaging techniques, there is a growing recognition that impaired right ventricular (RV) function profoundly affects the prognosis of patients with heart failure (HF), irrespective of their left ventricular ejection fraction (LVEF).
Liangzhen Qu, Xueting Duan, Han Chen
wiley   +1 more source

Considerations for drug trials in hypertrophic cardiomyopathy

ESC Heart Failure, Volume 12, Issue 2, Page 1095-1112, April 2025.
Abstract Hypertrophic cardiomyopathy (HCM) is a heterogeneous condition with potentially serious manifestations. Management has traditionally comprised therapies to palliate symptoms and implantable cardioverter‐defibrillators to prevent sudden cardiac death. The need for disease‐modifying therapies has been recognized for decades.
John P. Farrant, Matthias Schmitt, Anna B. Reid, Clifford J. Garratt, William G. Newman, Aneil Malhotra, Rhys Beynon, Masliza Mahmod, Betty Raman, Robert M. Cooper, Dana Dawson, Thomas Green, Sanjay K. Prasad, Anvesha Singh, Susanna Dodd, Hugh Watkins, Stefan Neubauer, Christopher A. Miller   +17 more
wiley   +1 more source

Characteristics of patients with diagnosis of maturity-onset diabetes of the young, according to the Russian diabetes registry

Сахарный диабет
BACKGROUND: Molecular genetic testing (MGT) is increasingly accessible, improving diagnosis of monogenic diabetes (DM), particularly maturity-onset diabetes of the young (MODY).
N. V. Rusyaeva, I. V. Kononenko, O. K. Vikulova, M. A. Isakov, M. V. Shestakova, N. G. Mokrysheva   +5 more
doaj   +1 more source