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DecipherBILU

Understanding functional mechanisms leading to the BILU syndrome

Total Cost €

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EC-Contrib. €

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Partnership

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Project "DecipherBILU" data sheet

The following table provides information about the project.

Coordinator
THE CHANCELLOR MASTERS AND SCHOLARSOF THE UNIVERSITY OF CAMBRIDGE 

Organization address
address: TRINITY LANE THE OLD SCHOOLS
city: CAMBRIDGE
postcode: CB2 1TN
website: www.cam.ac.uk

contact info
title: n.a.
name: n.a.
surname: n.a.
function: n.a.
email: n.a.
telephone: n.a.
fax: n.a.

 Coordinator Country United Kingdom [UK]
 Project website http://www.med.cam.ac.uk/nejentsev/decipherbilu/
 Total cost 183˙454 €
 EC max contribution 183˙454 € (100%)
 Programme 1. H2020-EU.1.3.2. (Nurturing excellence by means of cross-border and cross-sector mobility)
 Code Call H2020-MSCA-IF-2014
 Funding Scheme MSCA-IF-EF-ST
 Starting year 2015
 Duration (year-month-day) from 2015-05-01   to  2017-04-30

 Partnership

Take a look of project's partnership.

# participants  country  role  EC contrib. [€] 
1    THE CHANCELLOR MASTERS AND SCHOLARSOF THE UNIVERSITY OF CAMBRIDGE UK (CAMBRIDGE) coordinator 183˙454.00

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 Project objective

The BILU syndrome is an autosomal dominant primary immunodeficiency that combines B cells Immunodeficiency, Limb abnormalities and Urogenital malformations. Recently, we discovered the genetic basis of this disorder using whole exome sequencing. The causative mutation affects the protein that is involved in mediating transcriptional responses after activation of nuclear receptors (e.g. sex hormone receptors). Altered signalling via nuclear receptors is likely to impact a wide range of genes implicated in development, homeostasis and metabolism leading to the BILU syndrome. In this proposal, we develop a strategy to characterize the impact of the newly discovered mutation on nuclear receptor signalling. We will use analysis of patients’ primary fibroblasts, induced pluripotent stem (iPS) cells and CRISPR-Cas9 edited cell lines to investigate how the mutation impacts transcriptional responses after hormonal stimulations. This project will give insights in the function of the newly identified protein that is involved in the BILU syndrome and will help to understand its broader role in regulation of gene transcription.

 Publications

year authors and title journal last update
List of publications.
2017 Olivier Papapietro, Davide Eletto, Sarah Inglott, Vincent Plagnol, James Curtis, Mailis Maes, Delphine Cuchet-Lourenco, Emma Goss, Ali Alisaac, Siobhan O. Burns, Olivier Hermine, Capucine Picard, Alain Fischer, Anne Durandy, Sven Kracker, David Webster, Sergey Nejentsev
Dominant mutation in topoisomerase 2 beta causes B cell immunodeficiency
published pages: , ISSN: , DOI:
2017 Meeting of the European Society for Immunodeficiency 2019-07-24

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