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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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ey0018.2-12 | Neonatal diabetes mellitus | ESPEYB18

2.12. Neonatal diabetes mutations disrupt a chromatin pioneering function that activates the human insulin gene

I Akerman , MA Maestro , E De Franco , V Grau , S Flanagan , J Garcia-Hurtado , G Mittler , P Ravassard , L Piemonti , S Ellard , AT Hattersley , J Ferrer

Cell Rep. 2021 Apr 13;35(2):108981. doi: 10.1016/j.celrep.2021.108981. PMID: 33852861.Mutations in the promotor region of the insulin gene are associated with a subtype of neonatal diabetes mellitus (NDM). These mutations lead to abnormal transcription of the insulin gene and do so by deleting the C1 and E1 cis regulatory elements, or three different single base-pair substitutions in ...

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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

2.12. Neonatal diabetes mutations disrupt a chromatin pioneering function that activates the human insulin gene

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