A 94-bp Deletion in the Promoter of the Beta-Cell Disallowed gene <i>SLC16A1</i> causing Adult-onset Hyperinsulinism
Year: 2025
Type: preprint
Topic: Pancreatic function and diabetes
Authors and affiliations:
raw_author_name: Jasmin J. Bennett
raw_affiliation_strings: Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK;
Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK
raw_author_name: Hazem Ibrahim
raw_affiliation_strings: Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland;
Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland
raw_author_name: Jonna M E Männistö
raw_affiliation_strings: Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK;
Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK
raw_author_name: Martina Timonen
raw_affiliation_strings: Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland;
Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland
raw_author_name: Jessica R. Hopkinson
raw_affiliation_strings: Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK;
Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK
raw_author_name: Jonna Saarimäki-Vire
raw_affiliation_strings: Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland;
Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland
raw_author_name: Michaelis Vasiliadis
raw_affiliation_strings: Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK;
Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK
raw_author_name: Muhammad Faiz Muhamad
raw_affiliation_strings: Robert Graves Institute of Endocrinology, Tallaght University Hospital, Dublin, Ireland;
Robert Graves Institute of Endocrinology, Tallaght University Hospital, Dublin, Ireland
raw_author_name: Cécile Saint-Martin
raw_affiliation_strings: Department of Medical Genetics, AP HP Sorbonne University, Pitie Salpetriere Hospital, Paris, France;
Department of Medical Genetics, AP HP Sorbonne University, Pitie Salpetriere Hospital, Paris, France
raw_author_name: Jean-Baptiste Arnoux
raw_affiliation_strings: Reference Center for Inherited Metabolic Diseases, Necker Enfants Malades University Hospital, APHP, Imagine Institute, G2M, MetabERN, Paris Cite University, 75015, Paris, France;
Reference Center for Inherited Metabolic Diseases, Necker Enfants Malades University Hospital, APHP, Imagine Institute, G2M, MetabERN, Paris Cite University, 701, Paris, France
raw_author_name: Orla Neylon
raw_affiliation_strings: Department of Pediatric Endocrinology, University Hospital Limerick, Dooradoyle, Co. Limerick, Ireland;
Department of Pediatric Endocrinology, University Hospital Limerick, Dooradoyle, Co. Limerick, Ireland
raw_author_name: Julie Okiro
raw_affiliation_strings: Robert Graves Institute of Endocrinology, Tallaght University Hospital, Dublin, Ireland;
Robert Graves Institute of Endocrinology, Tallaght University Hospital, Dublin, Ireland
raw_author_name: Jayne A. L. Houghton
raw_affiliation_strings: Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK
raw_author_name: Matthew N. Wakeling
raw_affiliation_strings: Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK;
Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK
raw_author_name: Thomas W. Laver
raw_affiliation_strings: Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK;
Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK
raw_author_name: Matthew B. Johnson
raw_affiliation_strings: Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK;
Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK
raw_author_name: Andrew T. Hattersley
raw_affiliation_strings: Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK;
Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK
raw_author_name: Solja Eurola
raw_affiliation_strings: Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland;
Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland
raw_author_name: Eliisa Vähäkangas
raw_affiliation_strings: Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland;
Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland
raw_author_name: Hossam Montaser
raw_affiliation_strings: Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland;
Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland
raw_author_name: Kristen Neville
raw_affiliation_strings: Endocrinology, Syndney Childrens Hospital, Randwick and School of Womens and Children?s Health, UNSW, Sydney, New South Wales, Australia;
Endocrinology, Syndney Childrens Hospital, Randwick and School of Womens and Children?s Health, UNSW, Sydney, New South Wales, Australia
raw_author_name: Sue Mei Lau
raw_affiliation_strings: Department of Diabetes and Endocrinology, Prince of Wales Hospital, Sydney NSW 2031, Australia;
Department of Diabetes and Endocrinology, Prince of Wales Hospital, Sydney NSW 2031, Australia
raw_author_name: Elizabeth Palmer
raw_affiliation_strings: School of Woman?s and Children?s Health, University of New South Wales, Sydney 2031, Australia;
School of Woman?s and Children?s Health, University of New South Wales, Sydney 2031, Australia
raw_author_name: Colm Costigan
raw_affiliation_strings: National Centre for Medical Genetics, Our Lady's Hospital for Sick Children, Dublin, Ireland;
National Centre for Medical Genetics, Our Lady's Hospital for Sick Children, Dublin, Ireland
raw_author_name: Patrick Divilly
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Department of Endocrinology, St Vincents University Hospital, Dublin, Ireland
raw_author_name: Rachel K. Crowley
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Department of Endocrinology, St Vincents University Hospital, Dublin, Ireland
raw_author_name: Niall Swan
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Department of Endocrinology, St Vincents University Hospital, Dublin, Ireland
raw_author_name: James Gibney
raw_affiliation_strings: Robert Graves Institute of Endocrinology, Tallaght University Hospital, Dublin, Ireland;
Robert Graves Institute of Endocrinology, Tallaght University Hospital, Dublin, Ireland
raw_author_name: Donal O’Shea
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raw_author_name: Yusof Rahman
raw_affiliation_strings: Department of Genetic Medicine, Westmead Hospital, Sydney, New South Wales 2145, Australia;
Department of Genetic Medicine, Westmead Hospital, Sydney, New South Wales 2145, Australia
raw_author_name: Lisa G. Riley
raw_affiliation_strings: Rare Diseases Functional Genomics, Kids Research, The Childrens Hospital at Westmead and The Childrens Medical Research Institute, Sydney, Australia
raw_author_name: Diego Balboa
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Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland
raw_author_name: Nick D. L. Owens
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Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK
raw_author_name: Timo Otonkoski
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