Results 11 to 20 of about 8,814 (196)

Novel insights into genetics and clinics of the HNF1A-MODY [PDF]

Endocrine Regulations, 2019
MODY (Maturity Onset Diabetes of the Young) is a type of diabetes resulting from a pathogenic effect of gene mutations. Up to date, 13 MODY genes are known. Gene HNF1A is one of the most common causes of MODY diabetes (HNF1A-MODY; MODY3).
Valkovicova Terezia, Skopkova Martina, Stanik Juraj, Gasperikova Daniela   +3 more
doaj   +4 more sources

Altered cortisol metabolism in individuals with HNF1A-MODY [PDF]

Clinical Endocrinology, 2020
Objective and context: Maturity onset diabetes of the young due to variants in HNF1A (HNF1A‐MODY) is the most common form of monogenic diabetes. Individuals with HNF1A‐MODY usually have a lean phenotype which contrasts with type 2 diabetes (T2DM).
Katharine R. Owen, Zaki K. Hassan‐Smith, Gilligan, Lorna, Agata Juszczak, Hughes, Beverly, Owen, Katharine R., Hassan-Smith, Zaki, Arlt, Wiebke, Tomlinson, Jeremy, Lorna C. Gilligan, Wiebke Arlt, McCarthy, Mark I, Beverly A. Hughes, Mark I. McCarthy, Jeremy W. Tomlinson, Juszczak, Agata, Gilligan, Lorna C, Hughes, Beverly A, Tomlinson, Jeremy W, Hassan-Smith, Zaki K, McCarthy, Mark, Owen, Katharine R   +21 more
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The Common HNF1A Variant I27L Is a Modifier of Age at Diabetes Diagnosis in Individuals With HNF1A-MODY [PDF]

Diabetes, 2018
This is the author accepted manuscript. The final version is available from American Diabetes Association via the DOI in this record.There is wide variation in the age at diagnosis of diabetes in individuals with Maturity-Onset Diabetes of the Young ...
Michael N. Weedon, Weedon, M. N., Andrew R. Wood, Cécile Saint-Martin, Seth A. Sharp, Harries, L. W., Sian Ellard, Christine Bellanné-Chantelot, Locke, J. M., Thomas W. Laver, Kashyap A. Patel, Lorna W. Harries, Hattersley, Andrew T., Wood, A. R., Bellanné-Chantelot, C., Jonathan M. Locke, Sharp, S. A., Saint-Martin, C., Patel, K. A., Laver, T. W., Ellard, Sian, Andrew T. Hattersley   +21 more
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HNF1A-MODY Mutations in Nuclear Localization Signal Impair HNF1A-Import Receptor KPNA6 Interactions

The Protein Journal, 2021
#nofulltext# --- Fareed, Fareed M. A. (Arel Author), Çapan Yalçın, Özlem (Arel Author)Mutations in hepatocyte nuclear factor (HNF)1A gene cause the most common form of Maturity-onset diabetes of the young (MODY), a monogenic subtype of diabetes mellitus.
Fareed, Fareed M. A., Korulu, Şirin, Capan, Ozlem Yalcin, Özbil, Mehmet, Çapan Yalçın, Özlem, Fareed M. A. Fareed, Mehmet Özbil, Özlem Yalçın Çapan, Sirin Korulu   +8 more
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Congenital hyperinsulinism due to mutations in HNF1A

European Journal of Medical Genetics, 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   +4 more sources

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

Acta Diabetologica, 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.
James, T. J., Kiec-Wilk, B., Mlynarski, W., Thanabalasingham, Gaya, Nowak, Natalia, Owen, Katharine R., Owen, K. R., Skupień, Jan, Kozek, Elżbieta, Malecki, M. T., Szopa, Magdalena, Thanabalasingham, G., Kieć-Wilk, Beata, Kozek, E., Hattersley, Andrew T., Colclough, Kevin, James, Timothy J., Młynarski, Wojciech Michał, Szopa, M., Nowak, N., Małecki, Maciej, Skupien, J., McDonald, Tim J., McDonald, Timothy J.   +23 more
core   +7 more sources

Variants influencing age at diagnosis of HNF1A-MODY

Molecular Medicine, 2022
Background HNF1A-MODY is a monogenic form of diabetes caused by variants in the HNF1A gene. Different HNF1A variants are associated with differences in age of disease onset, but other factors are postulated to influence this trait.
Agnieszka H. Ludwig-Słomczyńska, Michał T. Seweryn, Piotr Radkowski, Przemysław Kapusta, Julita Machlowska, Stepanka Pruhova, Daniela Gasperikova, Christine Bellanne-Chantelot, Andrew Hattersley, Balamurugan Kandasamy, Lisa Letourneau-Freiberg, Louis Philipson, Alessandro Doria, Paweł P. Wołkow, Maciej T. Małecki, Tomasz Klupa   +15 more
doaj   +4 more sources

The HNF1α-regulated lncRNA HNF1A-AS1 reverses the malignancy of hepatocellular carcinoma by enhancing the phosphatase activity of SHP-1

Molecular Cancer, 2018
Background Our previous study has demonstrated that hepatocyte nuclear factor 1α (HNF1α) exerts potent therapeutic effects on hepatocellular carcinoma (HCC).
Chen-Hong Ding, Chuan Yin, Shi-Jie Chen, Liang-Zhi Wen, Kai Ding, Shu-Juan Lei, Jin-Pei Liu, Jian Wang, Kai-xian Chen, Hua-liang Jiang, Xin Zhang, Cheng Luo, Wei-Fen Xie   +12 more
doaj   +2 more sources

Treatment of young patients with HNF1A mutations (HNF1A-MODY)

Diabetic Medicine, 2015
Aim: Children and adolescents with a molecular diagnosis of HNF1A-MODY should be treated with oral sulfonylurea according to current International Society for Pediatric and Adolescent Diabetes (ISPAD) guidelines.
Woelfle, J., Scheuing, N., T. Meissner, Thon, A., Schober, E., Grulich-Henn, J., N. Scheuing, Raile, K., Konrad, K., K. Raile, J. Wölfle, R. W. Holl, Meissner, T., A. Thon, Holl, R.W., K. Konrad, E. Schober, J. Grulich‐Henn   +17 more
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Regulation of HNF1A in human pancreatic β-cells

, 2022
HNF1A is a transcription factor important for normal pancreatic β-cell function. Heterozygous mutations in HNF1A result in monogenic diabetes. Furthermore, rare and common variants in HNF1A influence Type 2 diabetes risk.
Font Cunill, Berta
core   +3 more sources