Results 61 to 70 of about 8,539 (162)

Congenital hyperinsulinism due to mutations in HNF1A

, 2020
Congenital hyperinsulinism is a rare but significant cause of severe and persistent hypoglycaemia in infancy. Although a biphasic phenotype of congenital hyperinsulinism in infancy followed by Maturity-Onset Diabetes of the Young (MODY) in later life has
Colclough, Kevin
core   +1 more source

Knockdown of HNF1A improves type 2 diabetes combined with non-alcoholic fatty liver and glucose and lipid metabolism disorders by modulating the PI3K/AKT/mTOR signaling pathway [PDF]

Journal of Men's Health
Non-alcoholic fatty liver disease (NAFLD) is one abnormal buildup of fat within the liver, independent of excessive alcohol intake. In type 2 diabetes, the presence of NAFLD can exacerbate chronic kidney diseases and mortality in patients.
Gengxu Li, Xiaoxue Ji, Huilan Gu, Qiyuan Sun, Lu Zhang, Zhenzhen Liu, Zhenguo Qiao, Guodong Zhang, Xuehua Jiao   +8 more
doaj   +1 more source

Apolipoprotein M can discriminate HNF1A-MODY from Type 1 diabetes.

, 2013
AIMS: Missed diagnosis of maturity-onset diabetes of the young (MODY) has led to an interest in biomarkers that enable efficient prioritization of patients for definitive molecular testing.
Malecki, MT, Park, R., Karpe, Fredrik, McCarthy, MI, K. R. Owen, McCarthy, M.I., Nowak, Natalia, Stoffel, M., Gloyn, AL, Karpe, F, Matile, H., Mughal, SA, S. A. Mughal, F. Karpe, Park, R, Gloyn, A.L., Owen, Katharine, R. Park, Karpe, F., A. L. Gloyn, McCarthy, Mark, Mughal, S.A., M. T. Malecki, Nowak, N, M. I. McCarthy, Owen, KR, H. Matile, N. Nowak, Matile, H, M. Stoffel, Małecki, Maciej, Gloyn, Anna, Stoffel, M, Owen, K.R.   +33 more
core   +1 more source

MODY probability calculator for GCK and HNF1A screening in a multiethnic background population

Archives of Endocrinology and Metabolism
Objective We aimed to identify the frequency of monogenic diabetes, which is poorly studied in multiethnic populations, due to GCK or HNF1A mutations in patients with suggestive clinical characteristics from the Brazilian population, as well as ...
Roberta Magalhães Tarantino, Gabriella de Medeiros Abreu, Ana Carolina Proença de Fonseca, Rosane Kupfer, Maria de Fátima Carvalho Pereira, Mario Campos Júnior, Lenita Zajdenverg, Melanie Rodacki   +7 more
doaj   +1 more source

Comprehensive Assessment of the KDM2B‐Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome

Clinical Genetics, Volume 110, Issue 2, Page 150-164, August 2026.
We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw, Tzung‐Chien Hsieh, Martijn Koetsier, Abdulrazak Alali, Fatimah Albuainain, Elena Bacchelli, Tahsin Stefan Barakat, Yline Capri, Sandra Chantot‐Bastaraud, Valeria Capra, Deanna Alexis Carere, Emma Clement, Nour Elkhateeb, Madeleine Franchi, Jing‐Mei Li, Nicole Matthews, Vanda McNiven, Sarju G. Mehta, Masayuki Nakamura, Chanika Phornphutkul, Nicole Revencu, Marcello Scala, Natalie Shallow, Jennifer Stefanich, Marta Viggiano, Paola Visconti, Susan Walker, Federico Zara, Mariëlle Alders, Bobby P. C. Koeleman, Renske Oegema   +30 more
wiley   +1 more source

Cystatin C is not a good candidate biomarker for HNF1A-MODY. [PDF]

, 2013
Cystatin C is a marker of glomerular filtration rate (GFR). Its level is influenced, among the others, by CRP whose concentration is decreased in HNF1A-MODY. We hypothesized that cystatin C level might be altered in HNF1A-MODY.
Malecki, MT, Hattersley, AT, James, T. J., Kiec-Wilk, B., Mlynarski, W., Thanabalasingham, Gaya, Mlynarski, W, Nowak, Natalia, Owen, Katharine R., Kozek, E, Owen, K. R., Skupień, Jan, Kozek, Elżbieta, Malecki, M. T., Szopa, Magdalena, Thanabalasingham, G., McDonald, TJ, Kieć-Wilk, Beata, Kiec-Wilk, B, Kozek, E., Hattersley, Andrew T., Colclough, Kevin, James, Timothy J., Owen, Katharine, Colclough, K, Młynarski, Wojciech Michał, Skupien, J, James, TJ, Thanabalasingham, G, Nowak, N, Owen, KR, Szopa, M., Nowak, N., Szopa, M, Małecki, Maciej, Skupien, J., McDonald, Tim J., McDonald, Timothy J.   +37 more
core   +1 more source

Genetic Study of Hepatocyte Nuclear Factor 1 Alpha Variants in Development of Early-Onset Diabetes Type 2 and Maturity-Onset Diabetes of the Young 3 in Iran

Advanced Biomedical Research, 2019
Background: Maturity-onset diabetes of the young (MODY) is a clinically and genetically heterogeneous group of diabetes characterized by noninsulin-dependent, autosomal-dominant disorder with strong familial history, early age of onset, and pancreatic ...
Aliasgar Mohammadi, Ameneh Eskandari, Akram Sarmadi, Mehrali Rahimi, Bijan Iraj, Mahin Hashemipour, Morteza Hashmezadeh Chaleshtori, Mohammad Amin Tabatabaiefar   +7 more
doaj   +1 more source

Revisiting Pluripotency Acquisition: A Unified Framework for Reprogramming Strategies

Development, Growth &Differentiation, Volume 68, Issue 6, August 2026.
ABSTRACT The traditional hierarchical view of totipotent cells generating diverse lineages of terminally differentiated cells was challenged by the discovery of induced pluripotent stem cells (iPSCs). This breakthrough demonstrated that the ectopic expression of four transcription factors, Oct4, Sox2, Klf4, and c‐Myc (OSKM), can reprogram somatic cells
Anamika Datta, Kunimasa Ohta
wiley   +1 more source

HNF1A Deficiency Impairs Beta-cell Fate, Granule Maturation and Function [PDF]

, 2019
Mutations in HNF1A cause Maturity Onset Diabetes of the Young type 3, the second most frequent form of diabetes caused by single gene mutation. We generated human stem cell-derived pancreatic endocrine cells with clinically pathogenic mutations in HNF1A ...
Gonzalez, Bryan Jose
core   +1 more source

The changing epidemiology of human type 2 diabetes–associated atherosclerosis: Pathophysiological mechanisms and emerging treatment possibilities

Journal of Internal Medicine, Volume 300, Issue 2, Page 131-152, August 2026.
Abstract Type 2 diabetes (T2D) is a major global health concern strongly associated with atherosclerosis and subsequent macrovascular complications. These complications are the leading cause of death among T2D patients. Despite a decline in cardiovascular events over the last decade, individuals with T2D still have an approximately doubled risk ...
Dania Al‐Sharify, Jiangming Sun, Andreas Edsfeldt   +2 more
wiley   +1 more source