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5.10. Hypothalamic overexpression of makorin ring finger protein 3 results in delayed puberty in female mice

SA Roberts , L Naule , S Chouman , T Johnson , M Johnson , RS Carroll , VM Navarro , UB Kaiser

Brief summary: This article shows that intra-cerebroventricular injections of a recombinant adeno-associated virus expressing MKRN3 resulted in delayed puberty in female mice.MKRN3 loss-of-function mutation is the most frequent cause of familial central precocious puberty (CPP) (1).These authors investigated the effect of MKRN3 overexpression on pubertal timing, by generating a mouse model of neonatal hypothalamic Mkrn3 ov...

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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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ey0015.2-1 | A novel disorder of hyperinsulinaemic hypoglycaemia and polycystic kidneys | ESPEYB15

A novel disorder of hyperinsulinaemic hypoglycaemia and polycystic kidneys

OR Cabezas , SE Flanagan , H Stanescu , E García-Martínez , R Caswell , H Lango-Allen , M Antón-Gamero , J Argente , AM Bussell , A Brandli , C Cheshire , E Crowne , S Dumitriu , R Drynda , JP Hamilton-Shield , W Hayes , A Hofherr , D Iancu , N Issler , C Jefferies , P Jones , M Johnson , A Kesselheim , E Klootwijk , M Koettgen , W Lewis , JM Martos , M Mozere , J Norman , V Patel , A Parrish , C Pérez-Cerdá , J Pozo , SA Rahman , N Sebire , M Tekman , PD Turnpenny , WV Hoff , DHHM Viering , MN Weedon , P Wilson , L Guay-Woodford , R Kleta , K Hussain , S Ellard , D Bockenhauer

To read the full abstract: J Am Soc Nephrol. 2017 Aug;28(8):2529-2539The association of hyperinsulinaemic hypoglycaemia (HH) and polycystic kidneys has not been reported before. Here, the authors studied 17 patients from 11 different families and found that all patients had a combination HH and polycystic kidneys. The HH was mild and some patients required diazoxide therapy. In contrast the poly...

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ESPE Yearbook of Paediatric Endocrinology

5.10. Hypothalamic overexpression of makorin ring finger protein 3 results in delayed puberty in female mice

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

A novel disorder of hyperinsulinaemic hypoglycaemia and polycystic kidneys

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