Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1.
- H. Huopio, F. Reimann, T. Otonkoski
- Biology, MedicineJournal of Clinical Investigation
- 1 October 2000
The first dominantly inherited SUR1 mutation is described, found within the second nucleotide binding fold of SUR1, that causes CHI in early life and predisposes to later insulin deficiency.
Noninvasive diagnosis of focal hyperinsulinism of infancy with [18F]-DOPA positron emission tomography.
- T. Otonkoski, K. Näntö-Salonen, H. Minn
- MedicineDiabetes
- 2006
F fluorine-18 l-3,4-dihydroxyphenylalanine ([(18)F]-DOPA) positron emission tomography (PET) is a promising noninvasive method for the identification and localization of the focal form of CHI.
K(ATP) channels and insulin secretion disorders.
- H. Huopio, S. Shyng, T. Otonkoski, C. Nichols
- Biology, MedicineAmerican Journal of Physiology. Endocrinology and…
- 1 August 2002
This article will review studies that have defined the link between channel activity and defective insulin release and will consider implications for future understanding of the mechanisms of control of insulin secretion in normal and diseased states.
Association of risk variants for type 2 diabetes and hyperglycemia with gestational diabetes.
- H. Huopio, H. Cederberg, M. Laakso
- MedicineEuropean Journal of Endocrinology
- 1 September 2013
This study suggests that GDM and T2D share a similar genetic background and provides further evidence that risk variants of MTNR1B are associated with GDM by increasing fasting plasma glucose and decreasing insulin secretion.
Insulin mutations impair beta-cell development in a patient-derived iPSC model of neonatal diabetes
- Diego Balboa, J. Saarimäki-Vire, T. Otonkoski
- Biology, MedicineeLife
- 9 November 2018
It is shown that misfolded proinsulin impairs developingBeta-cell proliferation without increasing apoptosis, and neonatal diabetes-associated INS-mutations lead to defective beta-cell mass expansion, contributing to diabetes development.
A new subtype of autosomal dominant diabetes attributable to a mutation in the gene for sulfonylurea receptor 1
- H. Huopio, T. Otonkoski, I. Vauhkonen, F. Reimann, F. Ashcroft, M. Laakso
- Medicine, BiologyThe Lancet
- 25 January 2003
Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation.
- A. Cuesta-Muñoz, H. Huopio, M. Laakso
- Medicine, BiologyDiabetes
- 1 August 2004
The findings demonstrate that the range of the clinical phenotype caused by GCK mutations varies from complete insulin deficiency to extreme hyperinsulinemia.
Autosomal Dominant Diabetes Arising From a Wolfram Syndrome 1 Mutation
- L. Bonnycastle, P. Chines, M. Laakso
- Medicine, BiologyDiabetes
- 18 October 2013
A novel nonsynonymous variant (p.Trp314Arg) in the Wolfram syndrome 1 (WFS1) gene is uncovered that segregates completely with the diabetic phenotype and represents the first compelling report of a mutation in WFS1 associated with dominantly inherited nonsyndromic adult-onset diabetes.
Long-term changes in glucose metabolism after gestational diabetes: a double cohort study
- H. Huopio, Heidi Hakkarainen, H. Cederberg
- MedicineBMC Pregnancy and Childbirth
- 30 August 2014
Investigation of the incidence and risk factors of prediabetes and type 2 diabetes with a view to the underlying pathophysiological mechanisms in a long-term follow-up of women with a history of gestational diabetes found increase in waist circumference and weight after pregnancy predicted the development of hyperglycemia after GDM.
A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland.
- T. Otonkoski, C. Ammälä, P. Thomas
- Biology, MedicineDiabetes
- 1 February 1999
A novel point mutation in exon 4 of SUR1 produces a nonfunctional channel and, thereby, continuous insulin secretion, which explains the majority of PHHI cases in Finland and is strongly associated with a severe form of the disease.
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