Mark E Samuels
- A generalizable pre-clinical research approach for orphan disease therapyChandree L Beaulieu
Children s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada
Orphanet J Rare Dis 7:39. 2012..In addition to enabling academic pre-clinical research, strategies such as this may also aid in seeding startup companies, as well as further engaging the pharmaceutical industry in the treatment of rare genetic disease...
- Compound heterozygosity in sodium channel Nav1.7 in a family with hereditary erythermalgiaMark E Samuels
Département de Médicine, Centre de Recherche du CHUM, Local M 5226, Hopital Notre Dame, 1560 rue Sherbrooke Est, Montreal QC H2L 4M1, Canada
Mol Pain 4:21. 2008..This is the second reported study of potential compound heterozygosity for coding polymorphisms in Nav1.7, the first being in a patient with paroxysmal extreme pain disorder...
- Genetics of cholesterol and lipoprotein metabolismMark E Samuels
Centre de Recherche du CHUM, Universite de Montreal, Hopital Notre Dame, 1560, rue Sherbrooke Est, Local M 5226, Montreal, QC H2L 4M1, Canada
Recent Pat Cardiovasc Drug Discov 2:195-204. 2007..This article also includes recent patent review coverage...
- Is gene discovery research or diagnosis?Mark E Samuels
Department of Medicine, University of Montreal and Centre de Recherche du CHUM, Montreal, Quebec, Canada
Genet Med 10:385-90. 2008..Even whole genome resequencing of individual patient DNA is within clinical reach in the foreseeable future...
- A mutation in the RNF170 gene causes autosomal dominant sensory ataxiaPaul N Valdmanis
Centre of Excellence in Neuromics, CHUM Notre Dame Hospital, Department of Medicine, University of Montreal, Canada
Brain 134:602-7. 2011..Together these results suggest that the mutation in RNF170 is causal for the sensory ataxia in these families...
- Bioinactive ACTH Causing Glucocorticoid DeficiencyMark E Samuels
MD, PhD, Centre hospitalier universitaire Sainte Justine, 3175 Cote Sainte Catherine, Montreal, Quebec H3T 1C5, Canada
J Clin Endocrinol Metab 98:736-42. 2013..Finally, discovery of this mutation indicates that in humans, the amino acid sequence His(6)Phe(7)Arg(8)Trp(9) is important not only for cAMP activation but also for ACTH binding to MC2R...
- De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophreniaJulie Gauthier
Department of Medicine, Centre of Excellence in Neuromics of Université de Montréal, Centre Hospitalier de L Universite de Montreal Research Center, Universite de Montreal, Montreal, QC H2L 2W5, Canada
Proc Natl Acad Sci U S A 107:7863-8. 2010..As mutations in SHANK3 were previously reported in autism, the occurrence of SHANK3 mutations in subjects with a schizophrenia phenotype suggests a molecular genetic link between these two neurodevelopmental disorders...
- Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndromeJosé Mario Capo-Chichi
Center of Excellence in Neuroscience of Université de Montréal, Centre de recherche du CHU Sainte Justine, Montreal, Canada
Hum Mutat 34:103-7. 2013..Our findings thus confirm the involvement of DDX11 in WABS, describe its phenotypical spectrum, and provide novel insight into the structural requirement for DDX11 activity...
- A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigreeKirsten M Timms
Myriad Genetics, Salt Lake City, UT 84108, USA
Hum Genet 114:349-53. 2004..This variant results in a D374Y missense change in the gene PCSK9...
- Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic IsolatesRonald G Lafreniere
Xenon Genetics Research, Xenon Genetics Inc, Burnaby, British Columbia V5G 4W8, Canada
Am J Hum Genet 74:1064-73. 2004..The HSN2 protein may play a role in the development and/or maintenance of peripheral sensory neurons or their supporting Schwann cells...
- A genome scan for loci influencing anti-atherogenic serum bilirubin levelsFlorian Kronenberg
Cardiovascular Genetics, University of Utah, Salt Lake City, Utah, USA
Eur J Hum Genet 10:539-46. 2002..These results provide evidence that loci influencing bilirubin variation exist on chromosomes 2q34-37, 9q21, 10q25-26, and 18q12 and confirms the association of low bilirubin levels with coronary artery disease in males...
- Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathyJohane Robitaille
Department of Ophthalmology, Izaak Walton Killam IWK Health Centre, Dalhousie University, Halifax, Nova Scotia B3H 2Y9, Canada
Nat Genet 32:326-30. 2002..In one of the mutants, altered subcellular trafficking led to defective signaling. These findings support a function for frizzled-4 in retinal angiogenesis and establish the first association between a Wnt receptor and human disease...