ESPE Yearbook of Paediatric Endocrinology

Nat Metab. 2022 Feb;4(2):284-299. https://pubmed.ncbi.nlm.nih.gov/35228745/Brief Summary: This study used three high-throughput single-cell technologies to generate a pancreatic islet cell atlas from 24 organ donors with type 1 diabetes (T1D), autoantibody positive and healthy donors. The most remarkable finding was that a subset of exocrine ductal cells appears to acquire a signature of to...

To read the full abstract: American journal of human genetics vol. 106,1 (2020): 58–70. doi: https://www.sciencedirect.com/science/article/pii/S0002929719304677?via%3DihubBy performing next-generation sequencing in 240 unrelated probands with congenital hypogonadotropic hypogonadism and follow-up in multiple animal models, this study identifies ...

To read the full abstract: Nature Medicine. 2019;25(11):1733–8. PMID 31700171.These authors sequenced the gene for melanocortin-2 receptor accessory protein (MRAP2 ) in 9418 blood DNA samples from several population studies. They detected 23 rare heterozygous variants, which were significantly associated with an increased risk of obesity (OR 3.8 in children and 2.9 in adults)....

To read the full abstract: EMBO Mol Med 2018;e9569:1–18TUBB1 encodes a member of the beta-tubulin protein family. Beta-tubulins and alpha-tubulins form dimers, which assemble into microtubules belonging to the intracellular cytoskeleton structure.The authors identified three different mutations in TUBB1 by whole exome sequencing in a large co...

Abstract Link: Nat Genet. 2019 Jan;51(1):96–105.In brief: Gain-of-function mutations altering DNMT3A are identified as a new cause of microcephalic dwarfism. Modelling of the disease in mice show that the mutations abrogate DNMT3A binding to H3K36me2 and H3K36me3 and lead to aberrant DNA methylation of Polycomb-marked regions and therefore repression ...

Abstract: Nature. 2019 Mar;567(7747):234–238.In brief: In this article, the authors present evidence that the murine epiphyseal growth plate develops a postnatal stem cell niche with monoclonal properties, that are able to self-renew. They thereby challenge the concept of a continous depletion of progenitor cells as a limiting factor for bone growth.<p class="abste...

To read the full abstract: Proc Natl Acad Sci USA. 2018; 115(52): E12265–E12274.The adrenal cortex plays a central role in regulating body homeostasis through the production of glucocorticoids and mineralocorticoids that control many important physiologic functions, such as metabolism, inflammation and arterial blood pressure. The production of these hormones, known as steroid...

Pediatr Diabetes. 2019 May 29. doi: 10.1111/pedi.12872. [Epub ahead of print]There might be many benefits arising from the artificial pancreas and other new technologies to deliver insulin and measure glucose levels. Whether or not such technological advances will improve the lives of children and families needs to be answered.This study surveyed the experiences of parent...

To read the full abstract: Nat Genet 2018;50:1542–1552The authors analyse whole blood samples collected in participants of the Icelandic deCODE genetics studies in order to distinguish maternal genotype versus paternal genotype effects on gene expression and methylation in blood. The results provide a new map of imprinted methylation and gene expression patterns across the human gen...

To read the full abstract: N Engl J Med 2018;379:428–439In this multi-centre cohort of 156 patients with hypotonic polyuria, direct measurement of hypertonic saline-stimulated plasma copeptin had much greater diagnostic accuracy than a standard water-deprivation test, as judged by the final reference diagnosis, which was determined on the basis of medical history, test result...