And the race is on for the ‘top spot’ in downloads…………..
That’s ‘top spot’ and not ‘top gun’
Read the review here
Available as open access here
T.L. Cameron, I.L. Gresshoff, K.M. Bella, K.A. Piróg, L. Sampurno, C.L. Hartley, E.M. Sanford, R. Wilson, J. Ermann, R.P. Boot-Handford, L.H. Glimcher, M.D. Briggs, J.F. Bateman
Osteoarthritis Cartilage. 2015 Jan 16th
The first mutations in COMP were identified in 1995 in patients with both PSACH and MED and subsequently there has been over 30 publications describing COMP mutations in at least 250 PSACH–MED patients.
However, despite these discoveries, a methodical analysis of the relationship between COMP mutations and phenotypes has not been undertaken. In particular, there has, to date, been little correlation between the type and location of a COMP mutation and the resulting phenotype of PSACH or MED.
To determine if genotype to phenotype correlations could be derived for COMP, we collated 300 COMP mutations, including 25 recently identified novel mutations. The results of this analysis demonstrate that mutations in specific residues and/or regions of the type III repeats of COMP are significantly associated with either PSACH or MED.
This newly derived genotype to phenotype correlation may aid in determining the prognosis of PSACH and MED, including the prediction of disease severity, and in the long term guide genetic counselling and contribute to the clinical management of patients with these diseases.
1. We’ve said hello to some new faces; Beth, Robert and Ella, but sadly bid farewell to Etta who has moved to an new position in Cardiff. Sarah has now finished her lab work in Manchester and is busy writing her Phd Thesis.
2. We also had our first IGM ‘project student’; Helen Mackie who wrote an excellent project report and overall she achieved an upper second class degree (2.i). So congratulations to Helen!
3. We have had several excellent manuscripts published this year (and several others are still under review) :-
4. In addition, we have revised two GeneReviews™ articles :-
5. In April we heard that SYBIL (Systems Biology for the Functional Validation of Genetic Determinants of Skeletal Diseases) had been favourably evaluated by the Commission services and we proceeded to negotiations. SYBIL started in October.
6. We have had platform and/or poster presentations at the following Conferences or Workshops:-
7. Pete was awarded a FEBS Fellowship in May to travel to Cologne and work with our good friends and colleagues Frank and Raimund (below) on COMP and Tenascin interactions.
8. Thanks to Beth, Rob, Kasia and Pete the lab is now fully ‘up and running’ and we have received all of our genetic models from Manchester and re-established necessary technology and resources in IGM @Newcastle. It’s taken about 12 months in total, but we are there now!
9. Kasia organised and hosted a Newcastle_Manchester Research day that was a great success and we plan for an even bigger event with Cologne in 2014 (watch this space!).
11.…………we celebrated all these achievements accordingly!