ArticleInternational journal of molecular sciences2025
Functional Characterization of Glucokinase Variants to Aid Clinical Interpretation of Monogenic Diabetes.
Varsha Rajesh, Dora Evelyn Ibarra, Jing Yang, Haichen Zhang, Amy Barrett, Eleanor G Kaplan, Amit Kumthekar, Fanny Sunden, Han Sun, Ananta Addala and 8 more
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In one paragraphArticle in International journal of molecular sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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5 · Who and what moneyAuthors and funding
18 authors.
Varsha RajeshDepartment of Pediatrics, Division of Endocrinology, Stanford School of Medicine, Stanford, CA 94305, USA.
Dora Evelyn IbarraDepartment of Pediatrics, Division of Endocrinology, Stanford School of Medicine, Stanford, CA 94305, USA.ORCID 0009-0004-0222-8954 Jing YangDepartment of Pediatrics, Division of Endocrinology, Stanford School of Medicine, Stanford, CA 94305, USA.
Haichen ZhangDepartment of Medicine, University of Maryland School of Medicine, Baltimore, MD 21201, USA.ORCID 0000-0002-0615-2836 Amy BarrettOxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Oxford OX3 7LE, UK.ORCID 0000-0002-1727-3633 Eleanor G KaplanDepartment of Pediatrics, Division of Endocrinology, Stanford School of Medicine, Stanford, CA 94305, USA.
Amit KumthekarDepartment of Pediatrics, Division of Endocrinology, Stanford School of Medicine, Stanford, CA 94305, USA.
Fanny SundenDepartment of Biochemistry, Stanford School of Medicine, Stanford, CA 94305, USA.
Han SunDepartment of Pediatrics, Division of Endocrinology, Stanford School of Medicine, Stanford, CA 94305, USA.
Ananta AddalaDepartment of Pediatrics, Division of Endocrinology, Stanford School of Medicine, Stanford, CA 94305, USA.ORCID 0000-0002-0508-4309 Aaron MisakianDepartment of Pediatrics, Division of Endocrinology, Stanford School of Medicine, Stanford, CA 94305, USA.ORCID 0000-0001-6005-0630 Colleen O JodarskiDepartment of Medicine, University of Maryland School of Medicine, Baltimore, MD 21201, USA.ORCID 0000-0001-6640-8963 Kristin A MaloneyDepartment of Medicine, University of Maryland School of Medicine, Baltimore, MD 21201, USA.ORCID 0000-0002-8607-1146 Cécile Saint-MartinDepartment of Medical Genetics, AP-HP Pitié-Salpêtrière Hospital, Sorbonne University, 75012 Paris, France.
Toni I PollinDepartment of Medicine, University of Maryland School of Medicine, Baltimore, MD 21201, USA.
Anna L GloynDepartment of Pediatrics, Division of Endocrinology, Stanford School of Medicine, Stanford, CA 94305, USA.ORCID 0000-0003-1205-1844 Funding
Deep Mutational Scanning of Monogenic Diabetes Genes to Facilitate Precision Diagnostics for DiabetesR01DK140555 · STANFORD UNIVERSITY · 2025 to 2025
$657kGenetics and Developmental Biology Training ProgramT32GM141828 · STANFORD UNIVERSITY · 2025 to 2025
$534kNIDDK NIH HHS R01 DK140555NIDDK NIH HHS R01DK140555NIDDK NIH HHS UM1 DK126185NIDDK NIH HHS UM1DK126185NIH HHS T32GM141828Wellcome Trust 200837
6 · The paper itselfAbstract
Precision medicine starts with a precision diagnosis. Yet up to 80% of cases of monogenic diabetes, a form of diabetes characterized by mutations in a single gene, are either overlooked or misdiagnosed. A genetic test for monogenic diabetes does not always lead to a precise diagnosis, as novel variants are often classified as variants of unknown significance. Variant interpretation requires collation of a framework of evidence, including population, computational, and segregation data, and can be assisted by functional analysis. The inclusion of functional data can be challenging, depending on the number of benign and pathogenic variants available for benchmarking assays. Glucokinase is the rate-limiting step for glucose metabolism in the pancreatic beta-cell and governs the threshold for glucose-stimulated insulin release. Loss-of-function alleles in the glucokinase (
Indexed as
Diabetes MellitusGenetic VariationGlucokinaseDiabetes Mellitus, Type 2HumansInsulinInsulin-Secreting CellsMutationGlucokinaseInsulinglucokinasehypoglycemiaMODYmonogenic diabetesVUS
Identifiers
PMID41516031
PMCPMC12785307
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