Abstract Search

ea0014p154 | (1) | ECE2007

TGFß1 signalling in human insulinomas compared with human islets.

Nabokikh Anastasiya , Bilban Martin , Gartner Wolfgang , Vila Greisa , Niederle Bruno , Nielsen Jens , Zielinski Christoph , Luger Anton , Wagner Ludwig

Insulinomas are thought to be the result of reduced ß-cell death and hyperproliferation of this specific and highly differentiated cell type. Specific growth- factors are responsible for inducing ß- cell replication and might therefore be involved in insulinoma formation. Pluripotent islet progenitor cells are thought to be located at pancreatic ducts, which can give rise to novel islets as well as exocrine pancreas formation. TGFß1 signalling disruption has bee...

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ea0044oc1.5 | Early Career Oral Communications | SFEBES2016

A missense mutation in the islet-enriched transcription factor MAFA leads to familial insulinomatosis and diabetes

Iacovazzo Donato , Flanagan Sarah E. , Walker Emily , Caswell Richard , Brandle Michael , Johnson Matthew , Wakeling Matthew , Guo Min , Dang Mary N. , Gabrovska Plamena , Niederle Bruno , Christ Emanuel , Jenni Stefan , Sipos Bence , Nieser Maike , Frilling Andrea , Dhatariya Ketan , Chanson Philippe , de Herder Wouter , Konukiewitz Bjorn , Kloppel Gunter , Stein Roland , Ellard Sian , Korbonits Marta

Introduction: Insulinomatosis is a rare disorder characterised by persistent hyperinsulinaemic hypoglycaemia (PHH) due to the occurrence of multifocal pancreatic insulinomas. This condition, whose pathogenesis is unknown, can occur in a familial setting. Paradoxically, while some family members develop PHH, others develop diabetes mellitus.Methods: We have identified a family with autosomal dominant familial insulinomatosis and diabetes. Exome sequencing...

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Endocrine Abstracts

TGFß1 signalling in human insulinomas compared with human islets.

A missense mutation in the islet-enriched transcription factor MAFA leads to familial insulinomatosis and diabetes

BiosciAbstracts