3rd March 2015
Bleeding disorders due to mutations in G- protein coupled receptors (GPCRs) in platelets - the speaker, Stuart Mundell, is part of the Bristol Platelet group (http://www.bristolplatelets.org/stuart-mundell).A quite dense report on very nice and recent work starting off from identifying genetic mutation in a set of patients, moving into cell culture models and then into mouse KO studies to identify how these mutations affect signalling by GPCRs.
http://www.ncbi.nlm.nih.gov/pubmed/23387322 (2)
http://www.ncbi.nlm.nih.gov/pubmed/23356287 (1)
This was an invited seminar at the Institute for Molecular, Cell and Systems Biology, Glasgow University (http://www.gla.ac.uk/researchinstitutes/biology/).
The patients that are at the base of this work have formed a grouping to help understanding and garner support (http://www.funnyblood.co.uk).
Several recent papers that form the backdrop (numbers in brackets relate to those in the sketch):
http://onlinelibrary.wiley.com/doi/10.1111/jth.12539/abstract (3)