ArticleDiabetes2019
Trisomy 21 Is a Cause of Permanent Neonatal Diabetes That Is Autoimmune but Not HLA Associated.
Article in Diabetes, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
What it found
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Who cites it
21 citing papers in PubMed, 42 citations in OpenAlex.
- Trial
- Investigating the Origins of Biochemical Dysregulation in Trisomy 21 Pregnancy.The Journal of clinical endocrinology and metabolism · 2025Article
- JAK inhibition decreases the autoimmune burden in Down syndrome.medRxiv : the preprint server for health sciences · 2024Article
- Down Syndrome and Autoimmune Disease.Clinical reviews in allergy & immunology · 2024Review
- Endocrine, auxological and metabolic profile in children and adolescents with Down syndrome: from infancy to the first steps into adult life.Frontiers in endocrinology · 2024Review
- Increased levels of anti-BSA antibodies in children with Down syndrome.Frontiers in endocrinology · 2023Article
- Selenium level correlates negatively with antibodies but positively with thyroid function in children with down syndrome: an Indonesian study.Frontiers in endocrinology · 2023Article
- ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of monogenic diabetes in children and adolescents.Pediatric diabetes · 2022Article
- Increased referrals for congenital hyperinsulinism genetic testing in children with trisomy 21 reflects the high burden of non-genetic risk factors in this group.Pediatric diabetes · 2022Article
- Endocrinal dysfunction in children with Down syndrome.Annals of pediatric endocrinology & metabolism · 2022Article
- What is the cause of kidney dysfunction in a newborn with trisomy 21? Answers.Pediatric nephrology (Berlin, Germany) · 2022Article
- Mutations and variants of ONECUT1 in diabetes.Nature medicine · 2021Article
- Comprehensive phenotypic analysis of the Dp1Tyb mouse strain reveals a broad range of Down syndrome-related phenotypes.Disease models & mechanisms · 2021Article
- Identification of GCK-maturity-onset diabetes of the young in cases of neonatal hyperglycemia: A case series and review of clinical features.Pediatric diabetes · 2021Article
- Stress Responses in Down Syndrome Neurodegeneration: State of the Art and Therapeutic Molecules.Biomolecules · 2021Review
- YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress.The Journal of clinical investigation · 2020Article
- Type 1 diabetes can present before the age of 6 months and is characterised by autoimmunity and rapid loss of beta cells.Diabetologia · 2020Article
- Regulator of Calcineurin (RCAN): Beyond Down Syndrome Critical Region.Molecules and cells · 2020Review
- Early Onset of Autoimmune Diabetes in Children with Down Syndrome-Two Separate Aetiologies or an Immune System Pre-Programmed for Autoimmunity?Current diabetes reports · 2020Review
- Neonatal Diabetes Mellitus.Frontiers in pediatrics · 2020Review
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 2 countries.
Funding
Abstract
Identifying new causes of permanent neonatal diabetes (PNDM) (diagnosis <6 months) provides important insights into β-cell biology. Patients with Down syndrome (DS) resulting from trisomy 21 are four times more likely to have childhood diabetes with an intermediate HLA association. It is not known whether DS can cause PNDM. We found that trisomy 21 was seven times more likely in our PNDM cohort than in the population (13 of 1,522 = 85 of 10,000 observed vs. 12.6 of 10,000 expected) and none of the 13 DS-PNDM patients had a mutation in the known PNDM genes that explained 82.9% of non-DS PNDM. Islet autoantibodies were present in 4 of 9 DS-PNDM patients, but DS-PNDM was not associated with polygenic susceptibility to type 1 diabetes (T1D). We conclude that trisomy 21 is a cause of autoimmune PNDM that is not HLA associated. We propose that autoimmune diabetes in DS is heterogeneous and includes coincidental T1D that is HLA associated and diabetes caused by trisomy 21 that is not HLA associated.
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What OpenQuestion holds
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.