ArticleThe Lancet regional health. Europe2023
A novel splice-affecting
Article in The Lancet regional health. Europe, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
What it found
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The trial behind it
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Who cites it
15 citing papers in PubMed, 20 citations in OpenAlex.
- A narrative review of what cohorts have taught us and how they have laid the foundation for much of our understanding of type 2 diabetes.Diabetologia · 2026Review
- The central role of the β-cell in diabetes: from monogenic forms to type 1, type 2, and gestational diabetes.Reviews in endocrine & metabolic disorders · 2026Review
- Genetic determinants of plasma lipids in Greenlanders.Current opinion in lipidology · 2026Review
- Implications of Genetic Elements on Type 2 Diabetes Mellitus Pathogenesis and Management.Endocrinology, diabetes & metabolism · 2026Review
- Inuit HLA variation and neuroimmune disease.Frontiers in neuroscience · 2026Review
- Genetic regulation of the plasma proteome and its link to cardiometabolic disease in Greenlandic Inuit.American journal of human genetics · 2025Article
- Societal and biological approaches to diabetes prevention and care for Inuit populations: a narrative review.Diabetologia · 2025Review
- HNF1A and A1CF coordinate a beta cell transcription-splicing axis that is disrupted in type 2 diabetes.Cell metabolism · 2025Article
- Article
- Prevalence of cardiovascular and other selected diseases among Greenlanders with and without type 2 diabetes.International journal of circumpolar health · 2024Article
- Burden of selected chronic non-communicable diseases in a primary healthcare setting in Nuuk, Greenland, compared to a Danish suburb.Scandinavian journal of primary health care · 2024Article
- Analysis of admixed Greenlandic siblings shows that the mean genotypic values for metabolic phenotypes differ between Inuit and Europeans.Genome medicine · 2024Article
- GWAS of lipids in Greenlanders finds association signals shared with Europeans and reveals an independent PCSK9 association signal.European journal of human genetics : EJHG · 2024Article
- Is the Pattern Changing? Atrial Fibrillation and Screening with Holter Electrocardiograms among Ischemic Stroke Patients in Greenland from 2016 to 2021.Journal of clinical medicine · 2023Article
- Evaluation in Monogenic Diabetes of the Impact ofHuman mutation · 2023Article
Corrections and comments
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Authors and funding
23 authors at 10 institutions in 6 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: The genetic disease architecture of Inuit includes a large number of common high-impact variants. Identification of such variants contributes to our understanding of the genetic aetiology of diseases and improves global equity in genomic personalised medicine. We aimed to identify and characterise novel variants in genes associated with Maturity Onset Diabetes of the Young (MODY) in the Greenlandic population. Methods: Using combined data from Greenlandic population cohorts of 4497 individuals, including 448 whole genome sequenced individuals, we screened 14 known MODY genes for previously identified and novel variants. We functionally characterised an identified novel variant and assessed its association with diabetes prevalence and cardiometabolic traits and population impact. Findings: We identified a novel variant in the known MODY gene Interpretation: The reported variant has the largest population impact of any previously reported variant within a MODY gene. Together with the recessive Funding: Novo Nordisk Foundation, Independent Research Fund Denmark, and Karen Elise Jensen's Foundation.
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.