Andrea Richter

Summary

Country: Canada

Publications

  1. ncbi 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 [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. ncbi 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. ncbi 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
  5. ncbi 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
  6. ncbi 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
  7. ncbi 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

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

Detail Information

Publications7

  1. ncbi 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 [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. ncbi 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. ncbi 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...
  5. ncbi 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...
  6. ncbi 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...
  7. ncbi 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...