{"id":14901,"date":"2016-11-11T14:28:46","date_gmt":"2016-11-11T19:28:46","guid":{"rendered":"http:\/\/biochimie.umontreal.ca\/en\/?page_id=14901"},"modified":"2024-05-31T11:42:56","modified_gmt":"2024-05-31T15:42:56","slug":"mark-e-samuels","status":"publish","type":"page","link":"https:\/\/biochimie.umontreal.ca\/en\/department\/directories\/accredited-professors\/mark-e-samuels\/","title":{"rendered":"Mark E. Samuels"},"content":{"rendered":"

Accredited Professor<\/h2>\n\n\n\n
\"\"<\/td>\n\n

Contact Information<\/h2>\n

Centre de Recherche
\nCHU Sainte-Justine
\n3175, chemin de la C\u00f4te Sainte-Catherine, local A-733
\nMontr\u00e9al (Qu\u00e9bec)
\nH3T 1C5<\/td>\n

\n

.<\/span><\/h2>\n

T<\/strong> 514 345-4931 poste 4265
\nF<\/strong> 514 345-4801
\nmark.e.samuels@umontreal.ca<\/a>
\nSite web<\/a><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n\n\n\n
\n

Themes<\/h2>\n

Dr. Mark Samuels was a Presidential Scholar in the United States in 1975.\u00a0 He received his A.B. degree summa cum laude<\/em> in Molecular Biology from Princeton University, and his Ph.D. in Biology from the Massachusetts Institute of Technology where he worked in the laboratory of Prof. Phillip Sharp.\u00a0 Dr. Samuels has studied the molecular mechanisms of cellular function and development for over 20 years, resulting in numerous scientific publications.\u00a0He has worked in the fields of basic gene expression, sex-determination in fruit flies, and most recently in the genetics of human disease.\u00a0 As a molecular geneticist he has participated in novel discoveries of twenty genes involved in eye development, neuronal function, growth, endocrinology and iron metabolism among others. Dr. Samuels is Associate Professor in Medicine at the Universit\u00e9 de Montr\u00e9al. His laboratory studies the functions of the genes identified in the course of human genomic analysis.<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n

Publications<\/h3>\n
    \n
  • Samuels ME, Gallo-Payet N, Pinard S, Hasselmann C, Magne F, Patry L, Chouinard L, Schwartzentruber J, Ren\u00e9 P, Sawyer N, Bouvier M, Djemli A, Delvin E, Huot C, Eugene D, Deal CL, Van Vliet G, Majewski J, Deladoey J (2013) Bioinactive ACTH causing glucocorticoid deficiency. J Clin Endocrin Metab 98: 736-742.<\/li>\n
  • \u00a0Samuels ME, Majewski J, Alirezaie N, Fernandez I, Casals F, Patey N, Decaluwe H, Gosselin I, Haddad E, Hodgkinson A, Idaghdour Y, Marchand V, Michaud JL, Rodrigue MA, Desjardins S, Dubois S, Le Deist F, Awadalla P, Raymond V, Maranda B (2013) Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia. J Med Genet 50: 324-329.<\/li>\n
  • Samuels ME, Gallo-Payet N, Pinard S, Hasselmann C, Magne F, Patry L, Chouinard L, Schwartzentruber J, Ren\u00e9 P, Sawyer N, Bouvier M, Djemli A, Delvin E, Huot C, Eugene D, Deal CL, Van Vliet G, Majewski J, Deladoey J (2013) Bioinactive ACTH causing glucocorticoid deficiency. J Clin Endocrin Metab 98: 736-742.<\/li>\n
  • \u00a0Majewski J, Schwartzentruber JA, Caqueret A, Patry L, Marcadier J, Fryns JP, Boycott KM, Ste-Marie LG, McKiernan FE, Marik I, Van Esch H, Michaud JL, Samuels ME. (2011) Mutations in NOTCH2 in families with Hajdu-Cheney Syndrome identified by whole exome resequencing. Human Mutation 32: 1114-1117.<\/li>\n
  • \u00a0Guernsey DL, Matsuoka M, Jiang J, Evans E, Macgillivray C, Nightingale M, Perry P, Ferguson M, LeBlanc M, Paquette J, Patry L, Rideout A, Thomas A, Orr A, McMaster CR, Michaud JL, Deal C, Langlois S, Superneau DW, Parkash S, Ludman M, Skidmore DL, Samuels ME. (2011) Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin Syndrome. Nature Genetics 43: 360-4.<\/li>\n
  • \u00a0Orr A, Dub\u00e9 MP, Zenteno JC, Jiang H, Asselin G, Evans SC, Caqueret A, Lakosha H, Letourneau L, Marcadier J, Matsuoka M, Macgillivray C, Nightingale M, Papillon-Cavanagh S, Perry S, Provost S, Ludman ML, Guernsey DL, Samuels ME. (2011) Mutations in a novel serine protease PRSS56 in families with Nanophthalmos.<\/li>\n
  • \u00a0Guernsey DL, Jiang H, Campagna DR, Evans SC, Ferguson M, Kellogg MD, Lachance M, Matsuoka M, Nightingale M, Rideout A, Saint-Amant L, Schmidt PJ, Orr A, Bottomley SS, Fleming MD, Ludman M, Dyack S, Fernandez CV, Samuels, M.E. (2009) Mutations in mitochondrial carrier protein family member SLC25A38 cause congenital sideroblastic anemia. Nature Genetics 41, 651-653.<\/li>\n
  • Samuels ME, Orr, A., Guernsey, D.L., Dooley, K., Riddell, C., Hodgkinson, K., Ludman, M., Pullman, D.P. (2008). Is Gene Discovery Research or Diagnosis. Genetics in Medicine 10, 385-390.<\/li>\n
  • Orr A, Dub\u00e9 MP, Marcadier J, Jiang H, Federico A, George S, Seamone C, Andrews D, Dubord P, Holland S, Provost S, Mongrain V, Evans S, Higgins B, Bowman S, Guernsey D, Samuels, M.E. (2007). Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy. PLoS One 8, 1-10.<\/li>\n
  • Papanikolaou, G., Samuels, M.E., Ludwig, E.H., MacDonald, M.L., Franchini, P.L., Dub\u00e9, M.-P., Andres, L., MacFarlane, J., Sakellaropoulos, N., Politou, M., Nemeth, E., Thompson, J., Risler, J., Zaborowska, C., Babakaiff, R., Radomski, C., Christakis, J., Brissot, P., Lockitch, G., Ganz, T.,\u00a0 Hayden, M.R., Goldberg, Y.P. (2004) Mutations in a Novel Gene, HFE2, Cause Chromosome 1q-Linked Juvenile Hereditary Hemochromatosis. Nat Genet 36, 77-82.<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"

    Accredited Professor Contact Information Centre de Recherche CHU Sainte-Justine 3175, chemin de la C\u00f4te Sainte-Catherine, local A-733 Montr\u00e9al (Qu\u00e9bec) H3T 1C5 . T 514 345-4931 poste 4265 F 514 345-4801 […]<\/p>\n","protected":false},"author":25,"featured_media":0,"parent":14887,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-14901","page","type-page","status-publish","hentry"],"yoast_head":"\nMark E. Samuels - D\u00e9partement de biochimie et m\u00e9decine mol\u00e9culaire<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/biochimie.umontreal.ca\/departement\/repertoires\/professeurs-accredites\/mark-e-samuels\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Mark E. 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