Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR -related autosomal recessive ectodermal dysplasia 14
- Adam Jackson, Sheng-Jia Lin, Elizabeth A Jones, …, Konstantina Drosou, Gaurav K Varshney, Siddharth Banka
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Assessing the Pathogenicity of In-Frame CACNA1F Indel Variants Using Structural Modeling
- Shalaw R Sallah, Panagiotis I Sergouniotis, Claire Hardcastle, …, Nick Lench, Simon C Lovell, Graeme C M Black
- J Mol Diagn, 10.1016/j.jmoldx.2022.09.005
Improving the clinical interpretation of missense variants in X linked genes using structural analysis
- Shalaw Rassul Sallah, Jamie M Ellingford, Panagiotis I Sergouniotis, …, Nicholas Lench, Simon C Lovell, Graeme C Black
- J Med Genet, 10.1136/jmedgenet-2020-107404
EVI1 phosphorylation at S436 regulates interactions with CtBP1 and DNMT3A and promotes self-renewal
- Roberto Paredes, James R Kelly, Bethany Geary, …, Tim C P Somervaille, Anthony D Whetton, Stefan Meyer
- Cell Death Dis, 10.1038/s41419-020-03099-0
Using an integrative machine learning approach utilising homology modelling to clinically interpret genetic variants: CACNA1F as an exemplar
- Panagiotis I Sergouniotis, Stephanie Barton, Simon Ramsden, …, Nick Lench, Simon C Lovell, Graeme C M Black
- Eur J Hum Genet, 10.1038/s41431-020-0623-y
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders
- David J Green, Shalaw R Sallah, Jamie M Ellingford, Simon C Lovell, Panagiotis I Sergouniotis
- Genes (Basel), 10.3390/genes11020179
Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia
- Frédéric M Vaz, John H McDermott, Mariëlle Alders, …, Michel van Weeghel, Marc Engelen, Siddharth Banka
- Brain, 10.1093/brain/awz291
Reliable Generation of Native-Like Decoys Limits Predictive Ability in Fragment-Based Protein Structure Prediction
- Shaun M Kandathil, Mario Garza-Fabre, Julia Handl, Simon C Lovell
- Biomolecules, 10.3390/biom9100612
Biochemical and structural analyses suggest that plasminogen activators coevolved with their cognate protein substrates and inhibitors
- Agnieszka Jendroszek, Jeppe B Madsen, Andrés Chana-Muñoz, …, Ernst-Martin Füchtbauer, Simon C Lovell, Jan K Jensen
- J Biol Chem, 10.1074/jbc.ra118.005419
Improved fragment-based protein structure prediction by redesign of search heuristics
- Shaun M Kandathil, Mario Garza-Fabre, Julia Handl, Simon C Lovell
- Sci Rep, 10.1038/s41598-018-31891-8
Erratum: EVI1 carboxy-terminal phosphorylation is ATM-mediated and sustains transcriptional modulation and self-renewal via enhanced CtBP1 association
- Roberto Paredes, Marion Schneider, Adam Stevens, …, Andrew Pierce, Anthony D Whetton, Stefan Meyer
- Nucleic Acids Res, 10.1093/nar/gky711
Non-muscle myosin IIB (Myh10) is required for epicardial function and coronary vessel formation during mammalian development
- Liam A Ridge, Karen Mitchell, Ali Al-Anbaki, …, Simon C Lovell, Karl E Kadler, Kathryn E Hentges
- PLoS Genet, 10.1371/journal.pgen.1007068