Searchable abstracts of presentations at key conferences in endocrinology

Endocrine Abstracts

Published by BioScientifica
Previous issue | Volume 71 | BES2020 | Next issue

Belgian Endocrine Society 2020

Online, Online
11 Nov 2020 - 11 Nov 2020

Card image cap

BES 2020

YIPF5 mutations cause diabetes and microcephaly through disrupted endoplasmic reticulum-to-Golgi trafficking Category: translational research

Previous section
Novel model of sex steroid deficiency in mice to study the physiological effects of delayed and suppressed puberty
Table of contents
Next section
Intestinal delivery of proinsulin and IL-10 via Lactococcus lactis combined with low-dose antiCD3 induces antigen-specific FoxP3+ Tregs in autoimmune diabetic mice

ea0071003 | YIPF5 mutations cause diabetes and microcephaly through disrupted endoplasmic reticulum-to-Golgi trafficking Category: translational research | BES2020

YIPF5 mutations cause diabetes and microcephaly through disrupted endoplasmic reticulum-to-Golgi trafficking Category: Translational research

Maria Lytrivi , Elisa De Franco , Hazem Ibrahim , Hossam Montaser , Matthew Wakeling , Federica Fantuzzi , Kashyap Patel , Celine Demarez , Ying Cai , Mariana Igoillo-Esteve , Cristina Cosentino , Vaino Lithovius , Helena Vihinen , Eija Jokitalo , Thomas W Laver , Matthew B Johnson , Toshiaki Sawatani , Hadis Shakeri , Nathalie Pachera , Belma Haliloglu , Mehmet Nuri Ozbek , Edip Unal , Ruken Yildirim , Tushar Godbole , Melek Yildiz , Banu Aydin , Angeline Bilheu , Ikuo Suzuki , Sarah E Flanagan , Pierre Vanderhaeghen , Valerie Senee , Cecile Julier , Piero Marchetti , Decio L Eizirik , Sian Ellard , Jonna Saarimaki-Vire , Timo Otonkoski , Andrew T Hattersley , Miriam Cnop

Objective: Neonatal diabetes is caused by single gene mutations reducing pancreatic β-cell number or impairing β-cell function. Understanding the genetic underpinnings of rare diabetes subtypes highlights fundamental biological processes in β-cells. Our aim was to explore the genetic basis of a syndrome characterized by neonatal diabetes, microcephaly and epilepsy.Methods: We performed whole genome sequencing for 2 unrelated patients with ...
0 shares

Published by BioScientifica

Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
© Bioscientifica 2024 | Privacy policy | Cookie settings

BiosciAbstracts

Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.

Find out more