Results 1 to 10 of about 8,539 (162)

Case Report: Identification of a HNF1A exons 1–10 heterozygous deletion in a Chinese MODY family [PDF]

Frontiers in Endocrinology
BackgroundMaturity-onset diabetes of the young (MODY) is an autosomal dominant monogenic diabetes, with HNF1A-MODY (MODY3) being a common subtype. Standard genetic testing for MODY often focuses on sequencing, which can lead to the misdiagnosis of cases ...
Mengyun Lei, Mei Xue, Huawei Wang, Zhe Dai, Jun Tang   +4 more
doaj   +3 more sources

A case of maturity-onset diabetes of the young with a pathogenic HNF1A variant and a coexisting NEUROD1 variant. [PDF]

J Diabetes Investig
ABSTRACT Aims/Introduction Maturity‐onset diabetes of the young (MODY) accounts for at least 1%–5% of diabetes cases and is usually caused by single gene variants. Accurate diagnosis of MODY is important for effective management, especially in young individuals who are lean and lack islet autoantibodies.
Takayoshi T, Hirota Y, Sugawara K, Sugano A, Ohta M, Takeuchi T, Yamamoto A, Satake W, Takaoka Y, Ogawa W.   +9 more
europepmc   +2 more sources

Glycemic and Renal Effects of SGLT2 Inhibitors in Monogenic Diabetes: A Real-World National Study. [PDF]

Diabetes Obes Metab
ABSTRACT Aims Evidence regarding the efficacy and safety of sodium–glucose cotransporter 2 inhibitors (SGLT2i) in monogenic diabetes is limited. We evaluated real‐world metabolic, renal, and safety outcomes of SGLT2i therapy in adults with monogenic diabetes.
Audrain E, Bel Lassen P, Bellanné-Chantelot C, Vantyghem MC, Dupuis H, Vidal-Trecan T, Chevalier N, Dubois-Laforgue D, Lamothe S, Vatier C, Villard O, Valéro R, Briet C, Vigouroux C, Ciangura C, Amouyal C.   +15 more
europepmc   +2 more sources

Integrated transcriptome and proteome analyses unveil cytoskeletal alterations in an endothelial model of monogenic diabetes [PDF]

Genome Medicine
Background HNF1A-MODY is a subtype of monogenic diabetes caused by mutations in the hepatocyte nuclear factor-1 homeobox A (HNF1A) gene. While the role of HNF1A in pancreatic beta cells has been extensively studied, its role in other cell types, such as ...
Dawid Skoczek, Damian Kloska, Marta Targosz-Korecka, Krzysztof Szade, Artur Biela, Jerzy Hohendorff, Marian Babincak, Aleksandra Kopacz, Maciej T. Malecki, Jacek Stepniewski, Neli Kachamakova-Trojanowska   +10 more
doaj   +2 more sources

Progressive HNF1A-MODY pathophysiology revealed by a translational mouse model [PDF]

JCI Insight
HNF1A-MODY, the most common monogenic diabetes, exhibits progressive β cell dysfunction, but existing mouse models fail to recapitulate human disease progression, limiting understanding of pathogenic mechanisms.
Isaline Louvet, Ana Acosta-Montalvo, Chiara Saponaro, Maria Moreno-Lopez, Sana Douffi, Abdelkrim El Karchaoui, Gianni Pasquetti, Julien Thevenet, Nathalie Delalleau, Valery Gmyr, Paolo Giacobini, Stéphanie Espiard, Julie Kerr-Conte, François Pattou, Adrian Liston, Caroline Bonner   +15 more
doaj   +2 more sources

Long non-coding RNA HNF1A-AS1 induces 5-FU resistance of gastric cancer through miR-30b-5p/EIF5A2 pathway

Translational Oncology, 2022
Background: Gastric cancer (GC) is one of the leading causes of cancer-related deaths worldwide and chemoresistance is a major cause for its poor prognosis. Long non-coding RNAs (lncRNAs) are associated with cancer chemoresistance.
Jianchun Yu, Yingjing Zhang, Lin Jiang   +2 more
exaly   +3 more sources

m⁶A Modification of Long Non-Coding RNA HNF1A-AS1 Facilitates Cell Cycle Progression in Colorectal Cancer via IGF2BP2-Mediated CCND1 mRNA Stabilization

Cells, 2022
Background: Long non-coding RNAs modulate tumor occurrence through different molecular mechanisms. It had been reported that HNF1A-AS1 (HNF1A Antisense RNA 1) was differently expressed in multiple tumors.
Yibo Bian, Yang Wang, Shufen Xu, Zhishuang Gao, Chao Li, Zongyao Fan, Jie Ding, Keming Wang   +7 more
doaj   +1 more source

Proteogenomic characterization of cholangiocarcinoma

Hepatology, EarlyView., 2022
Proteogenomic characterization of cholangiocarcinoma with therapeutic strategies Abstract Background and Aims Cholangiocarcinoma (CCA) is a highly heterogeneous cancer with limited understanding and few effective therapeutic approaches. We aimed at providing a proteogenomic CCA characterization to inform biological processes and treatment ...
Mengjie Deng, Peng Ran, Lingli Chen, Yunzhi Wang, Zixiang Yu, Ke Cai, Jinwen Feng, Zhaoyu Qin, Yanan Yin, Subei Tan, Yang Liu, Chen Xu, Guoming Shi, Yuan Ji, Jian‐Yuan Zhao, Jian Zhou, Jia Fan, Yingyong Hou, Chen Ding   +18 more
wiley   +1 more source

A nationwide assessment of hepatocellular adenoma resection: Indications and pathological discordance

Hepatology Communications, EarlyView., 2022
Abstract Hepatocellular adenomas (HCAs) are benign liver tumors associated with bleeding or malignant transformation. Data on the indication for surgery are scarce. We analyzed indications and outcome of patients operated for HCAs < 50 mm compared to HCAs ≥ 50 mm. Changes in final postoperative diagnosis were assessed.
Martijn P. D. Haring, Arthur K. E. Elfrink, Christiaan A. J. Oudmaijer, Paul C. M. Andel, Alicia Furumaya, Nenke de Jong, Colin J. J. M. Willems, Thijs Huits, Julie M. L. Sijmons, Eric J. T. Belt, Koop Bosscha, Esther C. J. Consten, Mariëlle M. E. Coolsen, Peter van Duijvendijk, Joris I. Erdmann, Paul Gobardhan, Robbert J. de Haas, Tjarda van Heek, Hwai‐Ding Lam, Wouter K. G. Leclercq, Mike S. L. Liem, Hendrik A. Marsman, Gijs A. Patijn, Türkan Terkivatan, Babs M. Zonderhuis, Izaak Quintus Molenaar, Wouter W. te Riele, Jeroen Hagendoorn, Alexander F. M. Schaapherder, Jan N. M. IJzermans, Carlijn I. Buis, Joost M. Klaase, Koert P. de Jong, Vincent E. de Meijer, the Dutch Benign Liver Tumor Group, R. B. Takkenberg, J. Verheij, O. M. van Delden, J. I. Erdmann, B. V. van Rosmalen, A. Furumaya, G. Kazemier, D. Ramsoekh, J. N. M. IJzermans, R. A. de Man, M. D. Doukas, M. G. Thomeer, A. J. Klompenhouwer, A. F. M. Schaapherder, M. E. Tushuizen, M. J. Coenraad, A. S. L. P. Crobach, M. C. Burgmans, S. Feshtali, M. M. E. Coolsen, M. Kramer, J. C. Beckervordersandforth, I. V. Samarska, C. van der Leij, R. Miclea, J. H. W. de Wilt, P. B. van den Boezem, E. T. T. L. Tjwa, I. Munsterman, S. Vos, S. van Koeverden, V. E. de Meijer, F. J. C. Cuperus, R. J. de Haas, E. W. Duiker, M. P. D. Haring   +70 more
wiley   +1 more source

HNF1A binds and regulates the expression of SLC51B to facilitate the uptake of estrone sulfate in human renal proximal tubule epithelial cells

Cell Death and Disease, 2023
Renal defects in maturity onset diabetes of the young 3 (MODY3) patients and Hnf1a -/- mice suggest an involvement of HNF1A in kidney development and/or its function.
Jun Wei Chan, Claire Wen Ying Neo, Soumita Ghosh, Hyungwon Choi, Su Chi Lim, E. Shyong Tai, Adrian Kee Keong Teo   +6 more
doaj   +1 more source