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Page 1
Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations.
Goldberg YP, MacFarlane J, MacDonald ML, Thompson J, Dube MP, Mattice M, Fraser R, Young C, Hossain S, Pape T, Payne B, Radomski C, Donaldson G, Ives E, Cox J, Younghusband HB, Green R, Duff A, Boltshauser E, Grinspan GA, Dimon JH, Sibley BG, Andria G, Toscano E, Kerdraon J, Bowsher D, Pimstone SN, Samuels ME, Sherrington R, Hayden MR. Goldberg YP, et al. Among authors: radomski c. Clin Genet. 2007 Apr;71(4):311-9. doi: 10.1111/j.1399-0004.2007.00790.x. Clin Genet. 2007. PMID: 17470132
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: radomski c. 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.
Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis.
Papanikolaou G, Samuels ME, Ludwig EH, MacDonald ML, Franchini PL, Dubé MP, Andres L, MacFarlane J, Sakellaropoulos N, Politou M, Nemeth E, Thompson J, Risler JK, Zaborowska C, Babakaiff R, Radomski CC, Pape TD, Davidas O, Christakis J, Brissot P, Lockitch G, Ganz T, Hayden MR, Goldberg YP. Papanikolaou G, et al. Among authors: radomski cc. Nat Genet. 2004 Jan;36(1):77-82. doi: 10.1038/ng1274. Epub 2003 Nov 30. Nat Genet. 2004. PMID: 14647275
Identification of four novel genes contributing to familial elevated plasma HDL cholesterol in humans.
Singaraja RR, Tietjen I, Hovingh GK, Franchini PL, Radomski C, Wong K, vanHeek M, Stylianou IM, Lin L, Wang L, Mitnaul L, Hubbard B, Winther M, Mattice M, Legendre A, Sherrington R, Kastelein JJ, Akinsanya K, Plump A, Hayden MR. Singaraja RR, et al. Among authors: radomski c. J Lipid Res. 2014 Aug;55(8):1693-701. doi: 10.1194/jlr.M048710. Epub 2014 Jun 2. J Lipid Res. 2014. PMID: 24891332 Free PMC article.
ABCA8 Regulates Cholesterol Efflux and High-Density Lipoprotein Cholesterol Levels.
Trigueros-Motos L, van Capelleveen JC, Torta F, Castaño D, Zhang LH, Chai EC, Kang M, Dimova LG, Schimmel AWM, Tietjen I, Radomski C, Tan LJ, Thiam CH, Narayanaswamy P, Wu DH, Dorninger F, Yakala GK, Barhdadi A, Angeli V, Dubé MP, Berger J, Dallinga-Thie GM, Tietge UJF, Wenk MR, Hayden MR, Hovingh GK, Singaraja RR. Trigueros-Motos L, et al. Among authors: radomski c. Arterioscler Thromb Vasc Biol. 2017 Nov;37(11):2147-2155. doi: 10.1161/ATVBAHA.117.309574. Epub 2017 Sep 7. Arterioscler Thromb Vasc Biol. 2017. PMID: 28882873
Systematic evaluation of amide bioisosteres leading to the discovery of novel and potent thiazolylimidazolidinone inhibitors of SCD1 for the treatment of metabolic diseases.
Sun S, Zhang Z, Kodumuru V, Pokrovskaia N, Fonarev J, Jia Q, Leung PY, Tran J, Ratkay LG, McLaren DG, Radomski C, Chowdhury S, Fu J, Hubbard B, Winther MD, Dales NA. Sun S, et al. Among authors: radomski c. Bioorg Med Chem Lett. 2014 Jan 15;24(2):520-5. doi: 10.1016/j.bmcl.2013.12.036. Epub 2013 Dec 16. Bioorg Med Chem Lett. 2014. PMID: 24374272
17 results