Genomes and Genes
- Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from TurkeyAndrea M Richter
Service de Genetique Medicale, Hopital Sainte Justine, 3175 Cote Sainte Catherine, H3T 1C5, Montreal, Quebec, Canada
Neurogenetics 5:165-70. 2004..Our study raises to 12 the number of SACS mutations detected in ARSACS patients with origins around the Mediterranean basin...
- [North American Indian childhood cirrhosis (NAIC)]Andrea Richter
Services de Génétique Médicale et de Gastroentérologie, Hopital Sainte Justine, Departement de Pediatrie, Universite de Montreal, 3175, Chemin de la Cote Sainte Catherine, Montreal Quebec H3T 1C5, Canada
Med Sci (Paris) 23:1002-7. 2007....
- Cirhin up-regulates a canonical NF-kappaB element through strong interaction with Cirip/HIVEP1Bin Yu
Génétique Médicale, Centre de Recherche CHU Sainte Justine, Departement de Pediatrie, Universite de Montreal, Montreal, QC, Canada
Exp Cell Res 315:3086-98. 2009..Since the activities of genes regulated through NF-kappaB responsive elements are especially important during development, this interaction may be a key to explain the perinatal appearance of NAIC...
- Nucleolar localization of cirhin, the protein mutated in North American Indian childhood cirrhosisBin Yu
Service de Genetique Medicale, Centre de Recherche, Hopital Sainte Justine, Universite de Montreal, 3175 Cote Sainte Catherine, Quebec, Canada H3T1C5
Exp Cell Res 311:218-28. 2005..The nucleolus is not known to be important specifically for intrahepatic cholestasis. These observations provide a new dimension in the study of hereditary cholestasis...
- A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosisPierre Chagnon
Division of Medical Genetics, Hopital Ste Justine, Centre Hospitalier Universitaire Mère Enfant, Universite de Montreal, Quebec, Canada
Am J Hum Genet 71:1443-9. 2002..Cirhin is preferentially expressed in embryonic liver, is predicted to localize to mitochondria, and contains WD repeats, which are structural motifs frequently associated with molecular scaffolds...
- RET Gly691Ser mutation is associated with primary vesicoureteral reflux in the French-Canadian population from QuebecYaoming Yang
Division of Medical Genetics, Hopital Sainte Justine, Centre Hospitalier Universitaire Mère Enfant, Department of Pediatrics, Universite de Montreal, Montreal, Quebec, Canada
Hum Mutat 29:695-702. 2008..Our study demonstrates that the Ret Gly691Ser mutation is associated with pVUR and may be one of the genetic causes of this condition in the French-Canadian population in Quebec...
- The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defectsKaren E Christensen
Department of Pediatrics, McGill University Montreal Children s Hospital, Montreal, Quebec, Canada
Hum Mutat 30:212-20. 2009..Further evaluation of this polymorphism in folate)related disorders and its potential interaction with folate status is warranted...