Institute of Medical Education: Recent submissions
Now showing items 196-200 of 299
-
Quantifying the contribution of recessive coding variation to developmental disorders
(American Association for the Advancement of Science, 7 December 2018)We estimated the genome-wide contribution of recessive coding variation in 6040 families from the Deciphering Developmental Disorders study. The proportion of cases attributable to recessive coding variants was 3.6% in ... -
De novo mutations in regulatory elements in neurodevelopmental disorders
(Nature Research, 21 March 2018)We previously estimated that 42% of patients with severe developmental disorders carry pathogenic de novo mutations in coding sequences. The role of de novo mutations in regulatory elements affecting genes associated with ... -
Characterization of TAE684 as a potent LRRK2 kinase inhibitor
(Elsevier, 28 January 2012)Leucine-rich repeat kinase 2 (LRRK2) is linked to Parkinson's disease and may represent an attractive therapeutic target. Here we report a 2,4-dianilino-5-chloro-pyrimidine, TAE684, a previously reported inhibitor of ... -
Common genetic variants contribute to risk of rare severe neurodevelopmental disorders
(Nature Research, 26 September 2018)There are thousands of rare human disorders that are caused by single deleterious, protein-coding genetic variants1. However, patients with the same genetic defect can have different clinical presentations2–4, and some ... -
GSK2578215A; A potent and highly selective 2-arylmethyloxy-5-substitutent- N-arylbenzamide LRRK2 kinase inhibitor
(Elsevier, 7 July 2012)Leucine-rich repeat kinase 2 (LRRK2) is a promising therapeutic target for some forms of Parkinson's disease. Here we report the discovery and characterization of 2-arylmethyloxy-5-subtitutent-N-arylbenzamides with potent ...