Widening the phenotypic spectrum caused by pathogenic PDX1 variants in individuals with neonatal diabetes.

Autor: Jeffery N; Department of Clinical and Biomedical Sciences, University of Exeter Faculty of Health and Life Sciences, Exeter, UK., Al Nimri O; Department of Clinical and Biomedical Sciences, University of Exeter Faculty of Health and Life Sciences, Exeter, UK., Houghton JAL; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK., Globa E; Department of Clinical and Biomedical Sciences, University of Exeter Faculty of Health and Life Sciences, Exeter, UK.; Ukrainian Scientific and Practical Center of Endocrine Surgery, Transplantation of Endocrine Organs and Tissues of the Ministry of Health of Ukraine, Kyiv, Ukraine., Wakeling MN; Department of Clinical and Biomedical Sciences, University of Exeter Faculty of Health and Life Sciences, Exeter, UK., Flanagan SE; Department of Clinical and Biomedical Sciences, University of Exeter Faculty of Health and Life Sciences, Exeter, UK., Hattersley AT; Department of Clinical and Biomedical Sciences, University of Exeter Faculty of Health and Life Sciences, Exeter, UK., Patel KA; Department of Clinical and Biomedical Sciences, University of Exeter Faculty of Health and Life Sciences, Exeter, UK.; Diabetes and Endocrinology, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., De Franco E; Department of Clinical and Biomedical Sciences, University of Exeter Faculty of Health and Life Sciences, Exeter, UK e.de-franco@exeter.ac.uk.

Publikováno v: BMJ open diabetes research & care [BMJ Open Diabetes Res Care] 2024 Nov 14; Vol. 12 (6). Date of Electronic Publication: 2024 Nov 14.

Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements.

Autor: Laver TW; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter, UK., Wakeling MN; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter, UK., Caswell RC; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter, UK., Bunce B; The Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK., Yau D; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter, UK.; Department of Paediatric Endocrinology, Royal Manchester Children's Hospital, Manchester, UK., Männistö JME; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter, UK.; Department of Health Sciences, School of Medicine, University of Eastern Finland, Kuopio, Finland., Houghton JAL; The Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK., Hopkins JJ; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter, UK., Weedon MN; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter, UK., Saraff V; Department of Paediatric Endocrinology and Diabetes, Birmingham Women's and Children's Hospital, Birmingham, UK., Kershaw M; Department of Paediatric Endocrinology and Diabetes, Birmingham Women's and Children's Hospital, Birmingham, UK., Honey EM; Department of Biochemistry, Genetics and Microbiology, University of Pretoria, Pretoria, South Africa., Murphy N; Department of Paediatric Endocrinology, Children's University Hospital, Dublin, Ireland., Giri D; Department of Paediatric Endocrinology, Bristol Royal Hospital for Children, Bristol, UK., Nath S; Royal Cornwall Hospital, Truro, UK., Tangari Saredo A; Division of Endocrinology, Sanatorio Güemes, Buenos Aires, Argentina., Banerjee I; Department of Paediatric Endocrinology, Royal Manchester Children's Hospital, Manchester, UK., Hussain K; Department of Paediatrics, Division of Endocrinology, Sidra Medicine, Doha, Qatar., Owens NDL; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter, UK., Flanagan SE; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter, UK. S.Flanagan@exeter.ac.uk.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Jul; Vol. 32 (7), pp. 813-818. Date of Electronic Publication: 2024 Apr 11.

Spectrum of neuro-developmental disorders in children with congenital hyperinsulinism due to activating mutations in GLUD1.

Autor: Aftab S; Department of Paediatric Endocrinology, Great Ormond Street Hospital, London, UK., Gubaeva D; Department of Paediatric Endocrinology, Endocrinology Research Centre, Moscow, Russia., Houghton JAL; The Genomics Laboratory, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK., Dastamani A; Department of Paediatric Endocrinology, Great Ormond Street Hospital, London, UK., Sotiridou E; Department of Paediatric Endocrinology, Great Ormond Street Hospital, London, UK., Gilbert C; Department of Paediatric Endocrinology, Great Ormond Street Hospital, London, UK., Flanagan SE; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK., Tiulpakov A; Department of Paediatric Endocrinology, Endocrinology Research Centre, Moscow, Russia., Melikyan M; Department of Paediatric Endocrinology, Endocrinology Research Centre, Moscow, Russia., Shah P; Department of Paediatric Endocrinology, Great Ormond Street Hospital, London, UK.

Publikováno v: Endocrine connections [Endocr Connect] 2023 Mar 07; Vol. 12 (4). Date of Electronic Publication: 2023 Mar 07 (Print Publication: 2023).

Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism.

Autor: Wakeling MN; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK., Owens NDL; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK., Hopkinson JR; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK., Johnson MB; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK., Houghton JAL; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Dastamani A; Endocrinology Department, Great Ormond Street Hospital for Children, London, UK., Flaxman CS; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK., Wyatt RC; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK., Hewat TI; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK., Hopkins JJ; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK., Laver TW; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK., van Heugten R; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Weedon MN; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK., De Franco E; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK., Patel KA; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK., Ellard S; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Morgan NG; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK., Cheesman E; Department of Paediatric Pathology, Royal Manchester Children's Hospital, Manchester, UK., Banerjee I; Department of Paediatric Endocrinology, Royal Manchester Children's Hospital, Manchester, UK.; Faculty of Biology, Medicine and Health, the University of Manchester, Manchester, UK., Hattersley AT; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK., Dunne MJ; Faculty of Biology, Medicine and Health, the University of Manchester, Manchester, UK., Richardson SJ; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK., Flanagan SE; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK. s.flanagan@exeter.ac.uk.

Publikováno v: Nature genetics [Nat Genet] 2022 Nov; Vol. 54 (11), pp. 1615-1620. Date of Electronic Publication: 2022 Nov 04.

Variation in Glycemic Outcomes in Focal Forms of Congenital Hyperinsulinism-The UK Perspective.

Autor: Dastamani A; Endocrinology Department, Great Ormond Street Hospital for Children, London, UK., Yau D; Department of Paediatric Endocrinology, Royal Manchester Children's Hospital, Manchester, UK., Gilbert C; Endocrinology Department, Great Ormond Street Hospital for Children, London, UK., Morgan K; Endocrinology Department, Great Ormond Street Hospital for Children, London, UK., De Coppi P; Department of Surgery, Great Ormond Street Hospital for Children, London, UK., Craigie RJ; Department of Paediatric Surgery, Royal Manchester Children's Hospital, Manchester, UK., Bomanji J; Nuclear Medicine Department, UCL Hospitals NHS Foundation Trust, London, UK., Biassoni L; Nuclear Medicine Department, Great Ormond Street Hospital for Children, London, UK., Sajjan R; Nuclear Medicine Department, Royal Manchester Children's Hospital, Manchester, UK., Flanagan SE; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK., Houghton JAL; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK., Senniappan S; Department of Paediatric Endocrinology, Alder Hey Children's Hospital NHS Trust, Liverpool, UK., Didi M; Department of Paediatric Endocrinology, Alder Hey Children's Hospital NHS Trust, Liverpool, UK., Dunne MJ; School of Medical Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK., Banerjee I; Department of Paediatric Endocrinology, Royal Manchester Children's Hospital, Manchester, UK., Shah P; Endocrinology Department, Great Ormond Street Hospital for Children, London, UK.; Genetics and Genomic Medicine Programme, University College London (UCL) Great Ormond Street Institute of Child Health, London, UK.

Publikováno v: Journal of the Endocrine Society [J Endocr Soc] 2022 Mar 15; Vol. 6 (6), pp. bvac033. Date of Electronic Publication: 2022 Mar 15 (Print Publication: 2022).