Jordan P Lerner-Ellis

Summary

Affiliation: Harvard University
Country: USA

Publications

  1. doi request reprint Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations
    Jordan P Lerner-Ellis
    Department of Medical Genetics, McGill University Health Centre, Montreal, Quebec, Canada
    Hum Mutat 30:1072-81. 2009
  2. ncbi request reprint Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism
    Jordan P Lerner-Ellis
    Department of Human Genetics, McGill University, Montreal, Quebec, Canada
    Hum Mutat 24:509-16. 2004
  3. ncbi request reprint Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type
    Jordan P Lerner-Ellis
    Department of Human Genetics, McGill University, Montreal, Quebec, Canada, H3G 1B1
    Nat Genet 38:93-100. 2006
  4. ncbi request reprint Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations
    Chantal F Morel
    Department of Human Genetics and Division of Medical Genetics, Department of Medicine, McGill University, Montreal, Que, Canada
    Mol Genet Metab 88:315-21. 2006
  5. doi request reprint Epigenetic modification of the gene for the vitamin B(12) chaperone MMACHC can result in increased tumorigenicity and methionine dependence
    Amanda D Loewy
    Department of Human Genetics, McGill University, McGill University Health Centre, Montreal General Hospital, 1650 Cedar Ave, Room L3 319, Montreal, Que, Canada H3G 1A4
    Mol Genet Metab 96:261-7. 2009
  6. ncbi request reprint Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduria
    Jordan P Lerner-Ellis
    Department of Human Genetics, McGill University, Montreal, Que, Canada
    Mol Genet Metab 87:219-25. 2006

Collaborators

Detail Information

Publications6

  1. doi request reprint Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations
    Jordan P Lerner-Ellis
    Department of Medical Genetics, McGill University Health Centre, Montreal, Quebec, Canada
    Hum Mutat 30:1072-81. 2009
    ..Differential or preferential MMACHC transcript levels may provide a clue as to why individuals carrying c.394C>T generally present later in life...
  2. ncbi request reprint Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism
    Jordan P Lerner-Ellis
    Department of Human Genetics, McGill University, Montreal, Quebec, Canada
    Hum Mutat 24:509-16. 2004
    ..Restriction endonuclease or heteroduplex diagnostic tests were designed to confirm mutations. None of the sequence changes identified in cblA patients were found in 100 alleles from unrelated control individuals...
  3. ncbi request reprint Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type
    Jordan P Lerner-Ellis
    Department of Human Genetics, McGill University, Montreal, Quebec, Canada, H3G 1B1
    Nat Genet 38:93-100. 2006
    ..Molecular modeling predicts that the C-terminal region of the gene product folds similarly to TonB, a bacterial protein involved in energy transduction for cobalamin uptake...
  4. ncbi request reprint Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations
    Chantal F Morel
    Department of Human Genetics and Division of Medical Genetics, Department of Medicine, McGill University, Montreal, Que, Canada
    Mol Genet Metab 88:315-21. 2006
    ..Further study into disease mechanism of specific mutations will help to understand phenotypic presentations and the overall pathogenesis in cblC patients...
  5. doi request reprint Epigenetic modification of the gene for the vitamin B(12) chaperone MMACHC can result in increased tumorigenicity and methionine dependence
    Amanda D Loewy
    Department of Human Genetics, McGill University, McGill University Health Centre, Montreal General Hospital, 1650 Cedar Ave, Room L3 319, Montreal, Que, Canada H3G 1A4
    Mol Genet Metab 96:261-7. 2009
    ..We conclude that epigenetic inactivation of the MMACHC gene is responsible for methionine dependence in MeWo-LC1...
  6. ncbi request reprint Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduria
    Jordan P Lerner-Ellis
    Department of Human Genetics, McGill University, Montreal, Que, Canada
    Mol Genet Metab 87:219-25. 2006
    ..556C >T (p.R186W), was particularly common, accounting for 33% of pathogenic alleles. It was seen almost exclusively in patients of European background and was typically associated with presentation in the first year of life...