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Human monogenic disorders - a source of novel drug targets.
Brinkman RR, Dubé MP, Rouleau GA, Orr AC, Samuels ME. Brinkman RR, et al. Among authors: dube mp. Nat Rev Genet. 2006 Apr;7(4):249-60. doi: 10.1038/nrg1828. Nat Rev Genet. 2006. PMID: 16534513 Review.
Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates.
Lafreniere RG, MacDonald ML, Dube MP, MacFarlane J, O'Driscoll M, Brais B, Meilleur S, Brinkman RR, Dadivas O, Pape T, Platon C, Radomski C, Risler J, Thompson J, Guerra-Escobio AM, Davar G, Breakefield XO, Pimstone SN, Green R, Pryse-Phillips W, Goldberg YP, Younghusband HB, Hayden MR, Sherrington R, Rouleau GA, Samuels ME. Lafreniere RG, et al. Among authors: dube mp. Am J Hum Genet. 2004 May;74(5):1064-73. doi: 10.1086/420795. Epub 2004 Apr 1. Am J Hum Genet. 2004. PMID: 15060842 Free PMC article.
Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy.
Robitaille J, MacDonald ML, Kaykas A, Sheldahl LC, Zeisler J, Dubé MP, Zhang LH, Singaraja RR, Guernsey DL, Zheng B, Siebert LF, Hoskin-Mott A, Trese MT, Pimstone SN, Shastry BS, Moon RT, Hayden MR, Goldberg YP, Samuels ME. Robitaille J, et al. Among authors: dube mp. Nat Genet. 2002 Oct;32(2):326-30. doi: 10.1038/ng957. Epub 2002 Aug 12. Nat Genet. 2002. PMID: 12172548
The 14q restless legs syndrome locus in the French Canadian population.
Levchenko A, Montplaisir JY, Dubé MP, Riviere JB, St-Onge J, Turecki G, Xiong L, Thibodeau P, Desautels A, Verlaan DJ, Rouleau GA. Levchenko A, et al. Among authors: dube mp. Ann Neurol. 2004 Jun;55(6):887-91. doi: 10.1002/ana.20140. Ann Neurol. 2004. PMID: 15174026
Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2.
Guernsey DL, Jiang H, Evans SC, Ferguson M, Matsuoka M, Nightingale M, Rideout AL, Provost S, Bedard K, Orr A, Dubé MP, Ludman M, Samuels ME. Guernsey DL, et al. Among authors: dube mp. Am J Hum Genet. 2009 Jul;85(1):120-9. doi: 10.1016/j.ajhg.2009.06.008. Epub 2009 Jul 2. Am J Hum Genet. 2009. PMID: 19576563 Free PMC article.
A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura.
Lafrenière RG, Cader MZ, Poulin JF, Andres-Enguix I, Simoneau M, Gupta N, Boisvert K, Lafrenière F, McLaughlan S, Dubé MP, Marcinkiewicz MM, Ramagopalan S, Ansorge O, Brais B, Sequeiros J, Pereira-Monteiro JM, Griffiths LR, Tucker SJ, Ebers G, Rouleau GA. Lafrenière RG, et al. Among authors: dube mp. Nat Med. 2010 Oct;16(10):1157-60. doi: 10.1038/nm.2216. Epub 2010 Sep 26. Nat Med. 2010. PMID: 20871611
360 results