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ey0015.2-5 | Atypical forms of congenital hyperinsulinism are associated with increased expression of the transcription factor NKX2.2 and increased numbers of somatostain secreting cells | ESPEYB15

Atypical forms of congenital hyperinsulinism are associated with increased expression of the transcription factor NKX2.2 and increased numbers of somatostain secreting cells

B Han , Z Mohamed , MS Estebanez , RJ Craigie , M Newbould , E Cheesman , R Padidela , M Skae , M Johnson , S Flanagan , S Ellard , KE Cosgrove , I Banerjee , MJ Dunne

To read the full abstract: J Clin Endocrinol Metab. 2017 Sep 1;102(9):3261-3267At a histological level congenital hyperinsulinism (CHI) is classified into three forms, namely diffuse, focal and atypical. The atypical forms display histological mosacism (heterogeneous populations of islets, which appear to be resting or quiescent and localized to particular domains/lobes of the pancreas) but the m...

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ey0019.3-9 | New genes | ESPEYB19

3.9. Upregulation of GBP1 in thyroid primordium is required for developmental thyroid morphogenesis

RM Yang , M Zhan , QY Zhou , XP Ye , FY Wu , M Dong , F Sun , Y Fang , RJ Zhang , CR Zhang , L Yang , MM Guo , JX Zhang , J Liang , F Cheng , W Liu , B Han , Y Zhou , SX Zhao , HD Song

Genet Med. 2021 Oct;23(10):1944-1951. doi: 10.1038/s41436-021-01237-3. Epub 2021 Jun 30. PMID: 34194003Brief Summary: This genetic and developmental study identified pathogenic mutations in GBP1in patients with congenital hypothyroidism investigated by exome sequencing. In the zebrafish model, knockdown experiments revealed hypothyroidism and disordered thyroid morphology. These d...

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ey0020.8-10 | New Paradigms | ESPEYB20

8.10. Functional and metabolic alterations of gut microbiota in children with new-onset type 1 diabetes

X Yuan , R Wang , B Han , C Sun , R Chen , H Wei , L Chen , H Du , G Li , Y Yang , X Chen , L Cui , Z Xu , J Fu , J Wu , W Gu , Z Chen , X Fang , H Yang , Z Su , J Wu , Q Li , M Zhang , Y Zhou , L Zhang , G Ji , F Luo

Brief summary: Using in-depth multi-omics analyses of human type 1 diabetes (T1D) samples, the authors profiled gut microbial functional and metabolic alterations. The T1D microbiota showed decreased butyrate production and bile acid metabolism and increased lipopolysaccharide (LPS) biosynthesis. Fecal microbiota transplantation in animal models proved that T1D gut microflora is a causative factor in the regulation of glucose metabolism.The etiology of T...

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ESPE Yearbook of Paediatric Endocrinology

Atypical forms of congenital hyperinsulinism are associated with increased expression of the transcription factor NKX2.2 and increased numbers of somatostain secreting cells

3.9. Upregulation of GBP1 in thyroid primordium is required for developmental thyroid morphogenesis

8.10. Functional and metabolic alterations of gut microbiota in children with new-onset type 1 diabetes

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