ArticleCell genomics2023
Human gain-of-function variants in HNF1A confer protection from diabetes but independently increase hepatic secretion of atherogenic lipoproteins.
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Article in Cell genomics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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17citing papers in PubMed
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Who cites it
17 citing papers in PubMed, 17 citations in OpenAlex.
- Massively parallel functional genomic assays in endocrinology: from promise to delivery.Journal of molecular endocrinology · 2026Review
- Hnf1aos1 as a Metabolic Coordinator of Hepatic Lipid Homeostasis and Feedback Control.Non-coding RNA · 2026Article
- Creating an atlas of variant effects to resolve variants of uncertain significance and guide cardiovascular medicine.Nature reviews. Cardiology · 2026Review
- Accurate variant effect estimation in FACS-based deep mutational scanning data with Lilace.Genome biology · 2026Article
- Long non-coding RNAs as molecular links and circulating biomarkers between type 2 diabetes and colorectal cancer: focus on shared signaling pathways, epigenetic regulation, and ubiquitination mechanisms.Frontiers in molecular biosciences · 2026Review
- Long non-coding RNAs in the crosstalk between diabetes and colorectal cancer: molecular mechanisms and endocrine pathways.Frontiers in molecular biosciences · 2026Review
- Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) in Alzheimer's Disease: Recent Advances and Controversies.Molecular neurobiology · 2025Review
- HNF1A and A1CF coordinate a beta cell transcription-splicing axis that is disrupted in type 2 diabetes.Cell metabolism · 2025Article
- Distinct Roles of Common Genetic Variants and Their Contributions to Diabetes: MODY and Uncontrolled T2DM.Biomolecules · 2025Review
- Heterogeneous enhancer states orchestrate β cell responses to metabolic stress.Nature communications · 2024Article
- Genomic and Transcriptomic Profile of HNF1A-Mutated Liver Adenomas Highlights Molecular Signature and Potential Therapeutic Implications.International journal of molecular sciences · 2024Article
- Genome-wide discovery and integrative genomic characterization of insulin resistance loci using serum triglycerides to HDL-cholesterol ratio as a proxy.Nature communications · 2024Article
- HNF4A and HNF1A exhibit tissue specific target gene regulation in pancreatic beta cells and hepatocytes.Nature communications · 2024Article
- The biochemistry of melanogenesis: an insight into the function and mechanism of melanogenesis-related proteins.Frontiers in molecular biosciences · 2024Review
- Current views on etiology, diagnosis, epidemiology and gene therapy of maturity onset diabetes in the young.Frontiers in endocrinology · 2024Review
- Advancements in Myocardial Infarction Management: Exploring Novel Approaches and Strategies.Cureus · 2023Review
- Updates on Triple-Negative Breast Cancer in Type 2 Diabetes Mellitus Patients: From Risk Factors to Diagnosis, Biomarkers and Therapy.Diagnostics (Basel, Switzerland) · 2023Review
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Authors and funding
24 authors at 6 institutions in 3 countries.
Natalie DeForestDivision of Endocrinology, Department of Medicine, University of California San Diego, La Jolla, CA, USA.
Babu KavithaDepartment of Molecular Genetics, Madras Diabetes Research Foundation, ICMR Centre for Advanced Research on Diabetes, Affiliated with University of Madras, Chennai, India.
Siqi HuDivision of Endocrinology, Department of Medicine, University of California San Diego, La Jolla, CA, USA.
Roi IsaacDivision of Endocrinology, Department of Medicine, University of California San Diego, La Jolla, CA, USA.
Lynne KrohnAlnylam Pharmaceuticals, Cambridge, MA, USA.
Minxian WangPrograms in Metabolism and Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Xiaomi DuDivision of Endocrinology, Department of Medicine, University of California San Diego, La Jolla, CA, USA.
Camila De Arruda SaldanhaDivision of Endocrinology, Department of Medicine, University of California San Diego, La Jolla, CA, USA.
Jenny GylysDivision of Endocrinology, Department of Medicine, University of California San Diego, La Jolla, CA, USA.
Edoardo MerliDivision of Endocrinology, Department of Medicine, University of California San Diego, La Jolla, CA, USA.
Ruben AbagyanSkaggs School of Pharmacy and Pharmaceutical Sciences, University of California San Diego, La Jolla, CA, USA.
Laeya NajmiPrograms in Metabolism and Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Viswanathan MohanDepartment of Diabetology, Dr. Mohan's Diabetes Specialties Centre (IDF Centre of Education) & Madras Diabetes Research Foundation (ICMR Centre for Advanced Research on Diabetes), Chennai, India.
Alnylam Human Genetics
AMP-T2D Consortium
Jason FlannickPrograms in Metabolism and Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Gina M PelosoDepartment of Biostatistics, Boston University School of Public Health, Boston, MA, USA.
Philip L S M GordtsDivision of Endocrinology, Department of Medicine, University of California San Diego, La Jolla, CA, USA.
Sven HeinzDivision of Endocrinology, Department of Medicine, University of California San Diego, La Jolla, CA, USA.
Aimee M DeatonAlnylam Pharmaceuticals, Cambridge, MA, USA.
Amit V KheraPrograms in Metabolism and Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Jerrold OlefskyDivision of Endocrinology, Department of Medicine, University of California San Diego, La Jolla, CA, USA.
Venkatesan RadhaDepartment of Molecular Genetics, Madras Diabetes Research Foundation, ICMR Centre for Advanced Research on Diabetes, Affiliated with University of Madras, Chennai, India.
Amit R MajithiaDivision of Endocrinology, Department of Medicine, University of California San Diego, La Jolla, CA, USA.
University of California San Diego · USBroad Institute · USAlnylam Pharmaceuticals (United States) · USUniversity of Madras · INBoston University · USMadras Diabetes Research Foundation · IN
Funding
Transgenic & Knock-out MouseP30DK063491 · NIDDK · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI Andrea L Hevener · 2003 to 2026
$40.4MSan Diego Digestive Diseases Research CenterP30DK120515 · NIDDK · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI Bernd G. Schnabl · 2019 to 2026
$10.8MTraining Program in Basic Clinical GeneticsT32GM008666 · NIGMS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI HAMILTON, BRUCE A · 1998 to 2021
$8.6MUsing genetic variation to study biology of blood lipids & coronary heart diseaseR01HL127564 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Pradeep Natarajan, Gina Marie Peloso · 2015 to 2026
$7.3MWhole genome sequences in individuals to comprehensively characterize the genetic mechanisms of dyslipidemiasR01HL142711 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI Satoshi Koyama, Gina Marie Peloso · 2019 to 2026
$4.7MIn vivo and in vitro rare coding variant analyses to identify modulations of the adipocyte differentiation pathway that affect T2D riskR01DK125490 · NIDDK · BOSTON CHILDREN'S HOSPITAL · PI Jason Flannick · 2020 to 2026
$3.9MCombining experiments of man and nature to target human insulin resistanceR01DK123422 · NIDDK · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI Amit Majithia · 2020 to 2026
$2.9MAddressing biomedical challenges with computational mechanics and big dataR35GM131881 · NIGMS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI ABAGYAN, RUBEN · 2019 to 2023
$1.9MHow transcription disrupts genome 3D organizationR01GM129523 · NIGMS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI HEINZ, SVEN W · 2020 to 2023
$1.3MIllumina NovaSeq 6000 Sequencing SystemS10OD026929 · OD · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI JEPSEN, KRISTEN LYNN · 2019 to 2019
$600kProspective Functional Characterization of All Possible Missense Variants in HNF1AR03DK113328 · NIDDK · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI MAJITHIA, AMIT · 2017 to 2018
$164kNHLBI NIH HHS R01 HL127564NHLBI NIH HHS R01 HL142711NIDDK NIH HHS P30 DK063491NIDDK NIH HHS P30 DK120515NIDDK NIH HHS R01 DK123422NIDDK NIH HHS R01 DK125490NIDDK NIH HHS R03 DK113328NIGMS NIH HHS R01 GM129523NIGMS NIH HHS R35 GM131881NIGMS NIH HHS T32 GM008666NIH HHS S10 OD026929
Abstract
Loss-of-function mutations in hepatocyte nuclear factor 1A (HNF1A) are known to cause rare forms of diabetes and alter hepatic physiology through unclear mechanisms. In the general population, 1:100 individuals carry a rare, protein-coding
Indexed as
ANGPTL3atherosclerosiscoronary artery diseasedeep mutational scandiabetesgain of functionHNF1AinflammationPCSK9saturation mutagenesisUK Biobank
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