Results 51 to 60 of about 8,539 (162)

Genetic basis of Asian diabetes

Journal of Diabetes Investigation, EarlyView.
ABSTRACT Recent genomic studies in Asian populations have advanced our understanding of the diagnosis, pathophysiology, risk prediction, and precision care of diabetes. Monogenic diabetes, including maturity‐onset diabetes of the young (MODY) and mitochondrial diabetes, highlights the importance of genetic diagnosis for subtype‐specific care.
Takafumi Ojima, Toshimasa Yamauchi
wiley   +1 more source

HNF1A G319S variant, active cigarette smoking and incident type 2 diabetes in Aboriginal Canadians: a population-based epidemiological study

BMC Medical Genetics, 2011
Background In a recent report of large-scale association analysis, a type 2 diabetes susceptibility locus near HNF1A was identified in predominantly European descent populations. A population-specific G319S polymorphism in HNF1A was previously identified
Gittelsohn Joel, Connelly Philip W, Cao Henian, Mamakeesick Mary, Harris Stewart B, Hegele Robert A, Ley Sylvia H, Retnakaran Ravi, Zinman Bernard, Hanley Anthony J   +9 more
doaj   +1 more source

Leptin–cholesterol crosstalk in pregnancy: Mechanistic implications for placental function and cardiometabolic programming

Experimental Physiology, EarlyView.
Abstract Pregnancy requires the coordinated maternal reorganization of lipid and endocrine pathways to sustain fetal growth and anticipate neonatal nutrition. Leptin, produced by adipose tissue and the placenta, acts as an integrative signal linking maternal energy status with trophoblast function and vascular adaptation, while cholesterol provides ...
Julio Flores, Diego Gumera, Andreina Arias, Cristián A. Amador, María José Yañez   +4 more
wiley   +1 more source

Novel Loss-of-Function Variant in HNF1a Induces β-Cell Dysfunction through Endoplasmic Reticulum Stress

, 2022
Heterozygous variants in the hepatocyte nuclear factor 1a (HNF1a) cause MODY3 (maturity-onset diabetes of the young, type 3). In this study, we found a case of novel HNF1a p.Gln125* (HNF1a-Q125ter) variant clinically.
Yuxian Zhang, Zhao, Qing, Zhang, Yuxian, Li, Xuejun, Huang, Caoxin, Likun Wang, Wang, Likun, Qing Zhao, Xuejun Li, Mingyu Li, Chen, Yinling, Juanjuan Tian, Huang, Bingkun, Jianxin Jia, Jia, Jianxin, Yinling Chen, Li, Mingyu, Caoxin Huang, Tian, Juanjuan, Bingkun Huang   +19 more
core   +1 more source

Fucosylated AGP glycopeptides as biomarkers of HNF1A-Maturity onset diabetes of the young [PDF]

, 2022
Aims: We previously demonstrated that antennary fucosylated N-glycans on plasma proteins are regulated by HNF1A and can identify cases of Maturity-Onset Diabetes of the Young caused by HNF1A variants (HNF1A-MODY).
Owen, Katharine R., Gornik, Olga, Novokmet, Mislav, Štambuk, Tamara, Tjora, Erling, Pape Medvidović, Edita, Njølstad, Pål Rasmus, Gasperikova, Daniela, Stanik, Juraj, Juszczak, Agata, Keser, Toma, Tijardović, Marko, Lauc, Gordan   +12 more
core   +1 more source

From Association to Mechanism: Regulatory Annotation and Pathway Mapping of Genes Surrounding Breast Cancer Risk Variants

Computational and Systems Oncology, Volume 6, Issue 1, December 2026.
ABSTRACT Inherited factors account for a large share of breast cancer susceptibility, yet the biological consequences of most risk variants are still poorly understood. To address this gap, we studied 175 breast cancer risk variants confirmed by genome‐wide association studies and gathered the genes that lie near them.
Sultana Jannat, Trina Mitra, Nafisa Nawar Fariha, Tasmia Tabassum, Kulsuma Bahar Bethi, Synchita Majumder Kaya, Md. Arif Hossen, Md. Saad Hossain, Jobaier Ibne Deen, Mohammed Emon, Laila Khaleda, Md. Hridoy Ahmed   +11 more
wiley   +1 more source

GATA1-Activated HNF1A-AS1 Facilitates the Progression of Triple-Negative Breast Cancer via Sponging miR-32-5p to Upregulate RNF38

Cancer Management and Research, 2021
Jingyu Yang, Heng Niu, Xin Chen Department of Breast Thyroid Surgery, The First People’s Hospital of Yunnan Province, Kunming, 650032, People’s Republic of ChinaCorrespondence: Jingyu YangDepartment of Breast Thyroid Surgery, The First People&
Yang J, Niu H, Chen X
doaj  

Role of HNFA1 Gene Variants in Pancreatic Beta Cells Function and Glycaemic Control in Young Individuals with Type 1 Diabetes

Biomedicines, 2023
The HNF1A transcription factor, implicated in the regulation of pancreatic beta cells, as well as in glucose and lipid metabolism, is responsible for type 3 maturity-onset diabetes of the young (MODY3).
Antonietta Robino, Gianluca Tornese, Davide Tinti, Klemen Dovc, Valeria Castorani, Andrea Conti, Roberto Franceschi, Ivana Rabbone, Riccardo Bonfanti, Tadej Battelino, Eulalia Catamo   +10 more
doaj   +1 more source

Alterations in Human Milk Adiponectin, Leptin, Resistin, and microRNAs in Mothers With Gestational Diabetes Mellitus Compared With Healthy Controls: A Systematic Review and Network‐Based Analysis

Food Science &Nutrition, Volume 14, Issue 9, September 2026.
Gestational diabetes alters the adipose–mammary gland axis, changing human milk composition—notably reducing adiponectin and dysregulating miR‐148a, miR‐30b, let‐7a, and let‐7d, which target ADIPOQ, LEP, and RETN and are enriched in glucose homeostasis/insulin resistance pathways.
Zhijun Zhang, Maryam Davoudi, Amirreza Ghafourian, Parmida Dehghan, Mojde Ahmadi, Seyed Mohammad Ayyoubzadeh, Xiaolei Miao, Hamid Choobineh, Reza Afrisham   +8 more
wiley   +1 more source

Unveiling the molecular profile of adenosquamous gallbladder carcinoma: characterization of a Caucasian cohort

Histopathology, Volume 89, Issue 3, Page 442-455, September 2026.
GBASCs are MMRp tumours, exhibiting minimal HER2 overexpression and elevated PD‐L1 expression compared to adenocarcinomas. Especially in metastatic and TP53‐wild type tumours, GBASCs can express CLDN18, albeit limited to the glandular component. Their genomic profile resembles that of adenocarcinomas with an enrichment in alterations on PIK3CA, PTEN ...
Jessica Gasparello, Valentina Angerilli, Mario Domenico Rizzato, Edoardo Maffii, Carlotta Ceccon, Matilde Callegarin, Marianna Sabbadin, Monia Niero, Luisa Toffolatti, Francesca Bergamo, Paola Parente, Luca Mastracci, Federica Grillo, Alessandro Vanoli, Paola Mattiolo, Claudio Luchini, Angelo Paolo Dei Tos, Umberto Cillo, Giacomo Zanus, Sara Lonardi, Matteo Fassan   +20 more
wiley   +1 more source