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A mutation in the mitochondrial fission gene Dnm1l leads to cardiomyopathy.
Ashrafian H, Docherty L, Leo V, Towlson C, Neilan M, Steeples V, Lygate CA, Hough T, Townsend S, Williams D, Wells S, Norris D, Glyn-Jones S, Land J, Barbaric I, Lalanne Z, Denny P, Szumska D, Bhattacharya S, Griffin JL, Hargreaves I, Fernandez-Fuentes N, Cheeseman M, Watkins H, Dear TN. Ashrafian H, et al. Among authors: denny p. PLoS Genet. 2010 Jun 24;6(6):e1001000. doi: 10.1371/journal.pgen.1001000. PLoS Genet. 2010. PMID: 20585624 Free PMC article.
Myofibrillar myopathy caused by a mutation in the motor domain of mouse MyHC IIb.
Kurapati R, McKenna C, Lindqvist J, Williams D, Simon M, LeProust E, Baker J, Cheeseman M, Carroll N, Denny P, Laval S, Lochmüller H, Ochala J, Blanco G. Kurapati R, et al. Among authors: denny p. Hum Mol Genet. 2012 Apr 15;21(8):1706-24. doi: 10.1093/hmg/ddr605. Epub 2011 Dec 23. Hum Mol Genet. 2012. PMID: 22199023
EuroPhenome: a repository for high-throughput mouse phenotyping data.
Morgan H, Beck T, Blake A, Gates H, Adams N, Debouzy G, Leblanc S, Lengger C, Maier H, Melvin D, Meziane H, Richardson D, Wells S, White J, Wood J; EUMODIC Consortium; de Angelis MH, Brown SD, Hancock JM, Mallon AM. Morgan H, et al. Nucleic Acids Res. 2010 Jan;38(Database issue):D577-85. doi: 10.1093/nar/gkp1007. Epub 2009 Nov 23. Nucleic Acids Res. 2010. PMID: 19933761 Free PMC article.
Dissecting the genetic complexity of human 6p deletion syndromes by using a region-specific, phenotype-driven mouse screen.
Bogani D, Willoughby C, Davies J, Kaur K, Mirza G, Paudyal A, Haines H, McKeone R, Cadman M, Pieles G, Schneider JE, Bhattacharya S, Hardy A, Nolan PM, Tripodis N, Depew MJ, Chandrasekara R, Duncan G, Sharpe PT, Greenfield A, Denny P, Brown SD, Ragoussis J, Arkell RM. Bogani D, et al. Among authors: denny p. Proc Natl Acad Sci U S A. 2005 Aug 30;102(35):12477-82. doi: 10.1073/pnas.0500584102. Epub 2005 Aug 18. Proc Natl Acad Sci U S A. 2005. PMID: 16109771 Free PMC article.
230 results