ArticleNature genetics2022
Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism.
Open access · hybridAbstract read
In one paragraph
Article in Nature genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
41citing papers in PubMed, 1 pooled it
7.5field-weighted citation impact, top 2% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
41 citing papers in PubMed, 1 synthesis or guideline pooled it, 59 citations in OpenAlex.
- International Guidelines for the Diagnosis and Management of Hyperinsulinism.Hormone research in paediatrics · 2024Guideline
- Nutrient and non-nutrient regulators of insulin secretion.Nature reviews. Endocrinology · 2026Review
- Mechanisms underlying disease-causing variants in promoters and enhancers.Nature genetics · 2026Review
- Ghrelin and relamorelin counteract hypoglycemia in mice engrafted with congenital hyperinsulinism stem cell-derived islets.Stem cells translational medicine · 2026Article
- Noncoding Variants in Intron 2 of HK1 Associated With Hyperinsulinism With Variable Clinical Phenotype.The Journal of clinical endocrinology and metabolism · 2026Article
- Low-level mosaic variants causing the pancreatic disease congenital hyperinsulinism can be detected from blood DNA.EBioMedicine · 2026Article
- Paired DNA and RNA sequencing uncovers common and rare variation regulating human retinal gene expression.Nature communications · 2026Article
- Contrasting Effects of Chronic Glucokinase Activation and Inhibition on Pancreatic Beta-Cell Function.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026Article
- Bi-allelic variants in the non-protein-coding minor spliceosome components RNU6ATAC and RNU4ATAC cause syndromic monogenic autoimmune diabetes.American journal of human genetics · 2026Article
- Comprehensive genetic rescreening improves diagnostic yield in congenital hyperinsulinism.Journal of the Endocrine Society · 2026Article
- Unravelling the molecular mechanisms causal to type 2 diabetes across global populations and disease-relevant tissues.Nature metabolism · 2026Article
- Bridging the variant-to-function gap in type 2 diabetes: advances and challenges.Diabetologia · 2026Review
- Predictive prioritization of enhancers associated with pancreatic disease risk.Cell genomics · 2026Article
- Gambogenic acid ameliorates inflammation by inhibiting HK1-mediated Warburg effect and NLRP3 inflammasome activation in sepsis.Acta pharmaceutica Sinica. B · 2026Article
- A combined genomic arrhythmia propensity score delineates cumulative risk.Cell reports. Medicine · 2025Article
- Article
- Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease.Genome medicine · 2025Article
- Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity.Genome medicine · 2025Article
- Whole-genome sequencing analysis identifies rare, large-effect noncoding variants and regulatory regions associated with circulating protein levels.Nature genetics · 2025Article
- Clinical and Genetic Characteristics of Congenital Hyperinsulinism in Norway: A Nationwide Cohort Study.The Journal of clinical endocrinology and metabolism · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
24 authors at 15 institutions in 10 countries.
Matthew N Wakeling *Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.ORCID http://orcid.org/0000-0002-6542-9241
Nick D L Owens *Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.ORCID http://orcid.org/0000-0002-2151-9923
Jessica R HopkinsonInstitute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
Matthew B JohnsonInstitute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
Jayne A L HoughtonExeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
Antonia DastamaniEndocrinology Department, Great Ormond Street Hospital for Children, London, UK.
Christine S FlaxmanInstitute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
Rebecca C WyattInstitute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
Thomas I HewatInstitute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.ORCID http://orcid.org/0000-0002-5330-760X
Jasmin J HopkinsInstitute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
Thomas W LaverInstitute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.ORCID http://orcid.org/0000-0001-6399-0089
Rachel van HeugtenExeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
Michael N WeedonInstitute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
Elisa De FrancoInstitute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.ORCID http://orcid.org/0000-0002-1437-7891
Kashyap A PatelInstitute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
Sian EllardExeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
Noel G MorganInstitute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.ORCID http://orcid.org/0000-0003-1537-8113
Edmund CheesmanDepartment of Paediatric Pathology, Royal Manchester Children's Hospital, Manchester, UK.
Indraneel BanerjeeDepartment of Paediatric Endocrinology, Royal Manchester Children's Hospital, Manchester, UK.ORCID http://orcid.org/0000-0003-4280-7470
Andrew T HattersleyInstitute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.ORCID http://orcid.org/0000-0001-5620-473X
Mark J DunneFaculty of Biology, Medicine and Health, the University of Manchester, Manchester, UK.
International Congenital Hyperinsulinism Consortium
Sarah J RichardsonInstitute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.ORCID http://orcid.org/0000-0002-1160-6062
Sarah E FlanaganInstitute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK. s.flanagan@exeter.ac.uk.ORCID http://orcid.org/0000-0002-8670-6340
University of Exeter · GBRoyal Devon & Exeter NHS Foundation Trust · GBUniversity of Manchester · GBUNSW Sydney · AUAga Khan University · PKCentre Hospitalo-Universitaire Bab El Oued · DZClínica Las Condes · CLGreat Ormond Street Hospital · GBHospital de Dona Estefânia · PTMedical University of Vienna · ATRoyal Manchester Children's Hospital · GBShaare Zedek Medical Center · ILTel Aviv University · ILUniversity Hospital Centre Zagreb · HRUniversity of Otago · NZ
Funding
Diabetes UK 19/0005971Medical Research Council MC_PC_17228Medical Research Council MC_PC_18056Medical Research Council MC_QA137853Wellcome Trust 105636Wellcome Trust 105636/Z/14/ZWellcome Trust 219606Wellcome Trust 219606/Z/19/Z
Abstract
Gene expression is tightly regulated, with many genes exhibiting cell-specific silencing when their protein product would disrupt normal cellular function
Indexed as
Congenital HyperinsulinismInsulin-Secreting CellsHexokinaseHumansInsulin SecretionRegulatory Sequences, Nucleic AcidHexokinase
Identifiers
What OpenQuestion holds
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Read underepoch 390
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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.