F Kaplan

Summary

Affiliation: McGill University
Country: Canada

Publications

  1. ncbi Tay-Sachs disease carrier screening: a model for prevention of genetic disease
    F Kaplan
    McGill University Montreal Children s Hospital Research Institute, Quebec, Canada
    Genet Test 2:271-92. 1998
  2. ncbi A novel developmentally regulated gene in lung mesenchyme: homology to a tumor-derived trypsin inhibitor
    F Kaplan
    McGill University Montreal Children s Hospital Research Institute, Montreal, Quebec H3H 1P3
    Am J Physiol 276:L1027-36. 1999
  3. ncbi Novel Tay-Sachs disease mutations from China
    N Akalin
    McGill University Montreal Children s Hospital Research Institute, Quebec, Canada
    Hum Mutat 1:40-6. 1992
  4. ncbi More than one mutant allele causes infantile Tay-Sachs disease in French-Canadians
    P Hechtman
    Research Institute, McGill University Montreal Children s Hospital, Quebec, Canada
    Am J Hum Genet 47:815-22. 1990
  5. ncbi A novel karyopherin-beta homolog is developmentally and hormonally regulated in fetal lung
    C Zhang
    Departments of Human Genetics and Pediatrics, and Montreal Children s Hospital Research Institute, McGill University, Montreal, Quebec, Canada
    Am J Respir Cell Mol Biol 22:451-9. 2000
  6. ncbi A chronic GM2 gangliosidosis variant with a HEXA splicing defect: quantitation of HEXA mRNAs in normal and mutant fibroblasts
    M J Fernandes
    McGill University Montreal Children s Hospital Research Institute, Department of Biology, Canada
    Eur J Hum Genet 5:129-36. 1997
  7. ncbi A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation
    M Fernandes
    Biology Department, McGill University, Montreal, Quebec, Canada
    Hum Mol Genet 1:759-61. 1992
  8. ncbi The intron 7 donor splice site transition: a second Tay-Sachs disease mutation in French Canada
    P Hechtman
    Montreal Children s Hospital Research Institute, McGill University, Montreal, Quebec, Canada
    Hum Genet 90:402-6. 1992
  9. ncbi A Pst+ polymorphism in the HEXA gene with an unusual geographic distribution
    F Kaplan
    Department of Biochemical Genetics, McGill University, Montreal Children's Hospital Research Institute, Quebec, Canada
    Eur J Hum Genet 1:301-5. 1993
  10. ncbi Formation of a ternary complex between GM2 activator protein, GM2 ganglioside and hexosaminidase A
    F Yadao
    McGill University Montreal Children s Hospital Research Institute, Montreal, Canada
    Biochim Biophys Acta 1340:45-52. 1997

Collaborators

Detail Information

Publications11

  1. ncbi Tay-Sachs disease carrier screening: a model for prevention of genetic disease
    F Kaplan
    McGill University Montreal Children s Hospital Research Institute, Quebec, Canada
    Genet Test 2:271-92. 1998
    ..More importantly, the outcome of TSD screening over the last 28 years offers convincing evidence that such an effort can dramatically reduce incidence of the disease...
  2. ncbi A novel developmentally regulated gene in lung mesenchyme: homology to a tumor-derived trypsin inhibitor
    F Kaplan
    McGill University Montreal Children s Hospital Research Institute, Montreal, Quebec H3H 1P3
    Am J Physiol 276:L1027-36. 1999
    ..Although additional studies will be necessary to clearly establish a functional role for lgl1, we propose that lgl1 has a role in normal lung development that is likely to be via regulation of extracellular matrix degradation...
  3. ncbi Novel Tay-Sachs disease mutations from China
    N Akalin
    McGill University Montreal Children s Hospital Research Institute, Quebec, Canada
    Hum Mutat 1:40-6. 1992
    ..This mutation occurs at a CpG dinucleotide. It has been reported in an Italian TSD proband and causes defective intracellular transport of the alpha-subunit from the rough endoplasmic reticulum to the Golgi apparatus...
  4. ncbi More than one mutant allele causes infantile Tay-Sachs disease in French-Canadians
    P Hechtman
    Research Institute, McGill University Montreal Children s Hospital, Quebec, Canada
    Am J Hum Genet 47:815-22. 1990
    ..Patients in three families carried TSD alleles different from any of the above mutations. The 5' deletion mutation clusters in persons originating in southeastern Quebec (Gaspé) and adjacent counties of northern New Brunswick...
  5. ncbi A novel karyopherin-beta homolog is developmentally and hormonally regulated in fetal lung
    C Zhang
    Departments of Human Genetics and Pediatrics, and Montreal Children s Hospital Research Institute, McGill University, Montreal, Quebec, Canada
    Am J Respir Cell Mol Biol 22:451-9. 2000
    ..We propose a role for lgl2 in nuclear import of transcription factors that regulate signal transduction during fetal lung development...
  6. ncbi A chronic GM2 gangliosidosis variant with a HEXA splicing defect: quantitation of HEXA mRNAs in normal and mutant fibroblasts
    M J Fernandes
    McGill University Montreal Children s Hospital Research Institute, Department of Biology, Canada
    Eur J Hum Genet 5:129-36. 1997
    ..9% the level of that produced by homozygous normal cells. The level of normal HEXA nRNA in this patient's cells was 10.4%...
  7. ncbi A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation
    M Fernandes
    Biology Department, McGill University, Montreal, Quebec, Canada
    Hum Mol Genet 1:759-61. 1992
    ..6 kb deletion mutation which is in the eastern part of the province...
  8. ncbi The intron 7 donor splice site transition: a second Tay-Sachs disease mutation in French Canada
    P Hechtman
    Montreal Children s Hospital Research Institute, McGill University, Montreal, Quebec, Canada
    Hum Genet 90:402-6. 1992
    ..Neither mutation has been detected in France, the ancestral homeland of French Canada...
  9. ncbi A Pst+ polymorphism in the HEXA gene with an unusual geographic distribution
    F Kaplan
    Department of Biochemical Genetics, McGill University, Montreal Children's Hospital Research Institute, Quebec, Canada
    Eur J Hum Genet 1:301-5. 1993
    ..In both cases the variant occurs on a chromosome carrying a novel TSD mutation (G772C) association with the B1 phenotype. The Pst+ G772C chromosomes are of Scots-Irish descent...
  10. ncbi Formation of a ternary complex between GM2 activator protein, GM2 ganglioside and hexosaminidase A
    F Yadao
    McGill University Montreal Children s Hospital Research Institute, Montreal, Canada
    Biochim Biophys Acta 1340:45-52. 1997
    ..The homodimeric (beta beta) isozyme Hex B did not bind to the immobilized activator. The alpha alpha homodimer, HexS, bound weakly, confirming that a hexosaminidase alpha subunit is required for interaction of enzyme and activator...
  11. ncbi A glycine250--> aspartate substitution in the alpha-subunit of hexosaminidase A causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian family
    I Trop
    DeBelle Lab for Biochemical Genetics, McGill University Montreal Children s Hospital Research Institute, Quebec, Canada
    Hum Mutat 1:35-9. 1992
    ..The predicted protein environment in which the mutation occurs is compared to that of the adult-onset Tay-Sachs disease mutation caused by a Gly269-->Ser substitution in exon 7.(ABSTRACT TRUNCATED AT 250 WORDS)..