ArticleEuropean journal of endocrinology2017
Hypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic genetic activation of PI3-kinase.
Article in European journal of endocrinology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 38 citations in OpenAlex.
- Hypoinsulinemic hypoglycemia with hemihypertrophy in a Filipino infant: management in a resource-limited setting.JCEM case reports · 2026Article
- Ultra-deep targeted next-generation sequencing with peripheral blood in patients with vascular malformations: a cohort of 40 patients.Molecular biology reports · 2025Article
- Ubiquitous expression of an activating mutation in the Pik3ca gene reprograms glucose and lipid metabolism in mice.PloS one · 2025Article
- An expanded clinical spectrum of hypoinsulinaemic hypoketotic hypoglycaemia.Orphanet journal of rare diseases · 2023Article
- Targeted next-generation sequencing for detection of PIK3CA mutations in archival tissues from patients with Klippel-Trenaunay syndrome in an Asian population : List the full names and institutional addresses for all authors.Orphanet journal of rare diseases · 2023Article
- Liver insulinization as a driver of triglyceride dysmetabolism.Nature metabolism · 2023Review
- Successful Treatment of Hypoglycemia With Alpelisib in Pediatric Patients WithJCEM case reports · 2023Article
- Syndromic forms of congenital hyperinsulinism.Frontiers in endocrinology · 2023Review
- PIK3CA gain-of-function mutation in adipose tissue induces metabolic reprogramming with Warburg-like effect and severe endocrine disruption.Science advances · 2022Article
- A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement.Clinical genetics · 2022Review
- Hypoglycemia due to PI3K/AKT/mTOR signaling pathway defects: two novel cases and review of the literature.Hormones (Athens, Greece) · 2021Review
- Brain Tissue Low-Level Mosaicism forDiagnostics (Basel, Switzerland) · 2021Article
- Misaligned foveal morphology and sector retinal dysfunction in AKT1-mosaic Proteus syndrome.Documenta ophthalmologica. Advances in ophthalmology · 2021Article
- Insulin resistance and exaggerated insulin sensitivity triggered by single-gene mutations in the insulin signaling pathway.Diabetology international · 2021Article
- The Effectiveness of Sirolimus Treatment in Two Rare Disorders with Nonketotic Hypoinsulinemic Hypoglycemia: The Role of mTOR PathwayJournal of clinical research in pediatric endocrinology · 2020Article
- Congenital hyperinsulinism disorders: Genetic and clinical characteristics.American journal of medical genetics. Part C, Seminars in medical genetics · 2019Review
- Current and Emerging Agents for the Treatment of Hypoglycemia in Patients with Congenital Hyperinsulinism.Paediatric drugs · 2019Review
- Mouse Models for Exploring the Biological Consequences and Clinical Significance ofBiomolecules · 2019Review
- Sirolimus: Efficacy and Complications in Children With Hyperinsulinemic Hypoglycemia: A 5-Year Follow-Up Study.Journal of the Endocrine Society · 2019Article
- Cancer-Associated PIK3CA Mutations in Overgrowth Disorders.Trends in molecular medicine · 2018Review
Corrections and comments
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Authors and funding
25 authors at 12 institutions in 5 countries.
Funding
Abstract
objectiveGenetic activation of the insulin signal-transducing kinase
methodsThree patients with megalencephaly, diffuse asymmetric overgrowth, hypoketotic, hypoinsulinaemic hypoglycaemia and no
resultsIn the first three patients, mosaic mutations in
conclusionsMosaic mutations activating class 1A PI3K cause severe non-ketotic hypoglycaemia in a subset of patients, with the metabolic phenotype presumably related to the extent of mosaicism within the liver. mTOR or PI3K inhibitors offer the prospect for future therapy.
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Registered trials
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.