Andrea Richter

Summary

Country: Canada

Publications

  1. ncbi request reprint Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey
    Andrea M Richter
    Service de Genetique Medicale, Hopital Sainte Justine, 3175 Cote Sainte Catherine, H3T 1C5, Montreal, Quebec, Canada
    Neurogenetics 5:165-70. 2004
  2. ncbi request reprint [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
  3. doi request reprint Cirhin up-regulates a canonical NF-kappaB element through strong interaction with Cirip/HIVEP1
    Bin 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
  4. doi request reprint Risk of congenital heart defects is influenced by genetic variation in folate metabolism
    Karen E Christensen
    Department of Pediatrics and Human Genetics, McGill University Montreal Children s Hospital Research Institute, Montreal, Quebec, Canada
    Cardiol Young 23:89-98. 2013
  5. ncbi request reprint Nucleolar localization of cirhin, the protein mutated in North American Indian childhood cirrhosis
    Bin 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
  6. pmc A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis
    Pierre 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
  7. doi request reprint RET Gly691Ser mutation is associated with primary vesicoureteral reflux in the French-Canadian population from Quebec
    Yaoming 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
  8. doi request reprint The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects
    Karen E Christensen
    Department of Pediatrics, McGill University Montreal Children s Hospital, Montreal, Quebec, Canada
    Hum Mutat 30:212-20. 2009

Collaborators

  • Karen E Christensen
  • Bin Yu
  • Charles V Rohlicek
  • Rima Rozen
  • Gregor U Andelfinger
  • Jean Luc Bigras
  • Yaoming Yang
  • Grant A Mitchell
  • Jacques Michaud
  • Pierre Chagnon
  • Yassamin Feroz Zada
  • Jacques L Michaud
  • Marie Pierre Dube
  • Robert E MacKenzie
  • Anne Marie Houle
  • Julien Letendre
  • Eric Drouin
  • Grant Mitchell
  • Jean François Marion
  • Thomas J Hudson
  • Andree Rasquin-Weber
  • Jocelyne Mercier

Detail Information

Publications8

  1. ncbi request reprint Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey
    Andrea 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...
  2. ncbi request reprint [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
    ....
  3. doi request reprint Cirhin up-regulates a canonical NF-kappaB element through strong interaction with Cirip/HIVEP1
    Bin 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...
  4. doi request reprint Risk of congenital heart defects is influenced by genetic variation in folate metabolism
    Karen E Christensen
    Department of Pediatrics and Human Genetics, McGill University Montreal Children s Hospital Research Institute, Montreal, Quebec, Canada
    Cardiol Young 23:89-98. 2013
    ..G and heart defect risk was found. The influence of folate-related polymorphisms may be specific to certain types of heart defects; larger cohorts of mothers and children with distinct sub-classes are required to adequately address risk...
  5. ncbi request reprint Nucleolar localization of cirhin, the protein mutated in North American Indian childhood cirrhosis
    Bin 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...
  6. pmc A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis
    Pierre 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...
  7. doi request reprint RET Gly691Ser mutation is associated with primary vesicoureteral reflux in the French-Canadian population from Quebec
    Yaoming 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...
  8. doi request reprint The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects
    Karen 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...