C R Scriver

Summary

Affiliation: McGill University
Country: Canada

Publications

  1. ncbi request reprint Human genetics: lessons from Quebec populations
    C R Scriver
    Departments of Human Genetics, Pediatrics, and Biology, McGill University, Montreal, Quebec, Canada
    Annu Rev Genomics Hum Genet 2:69-101. 2001
  2. pmc PAH Mutation Analysis Consortium Database: a database for disease-producing and other allelic variation at the human PAH locus
    L Hoang
    The DeBelle Laboratory, McGill University Montreal Children s Hospital Research Institute, Montreal, Quebec, Canada
    Nucleic Acids Res 24:127-31. 1996
  3. ncbi request reprint In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to function
    P J Waters
    Department of Pediatrics, McGill University, Montreal, Quebec, Canada
    Hum Mutat 11:4-17. 1998
  4. ncbi request reprint Alterations in protein aggregation and degradation due to mild and severe missense mutations (A104D, R157N) in the human phenylalanine hydroxylase gene (PAH)
    P J Waters
    De Belle Laboratory for Biochemical Genetics, McGill University Montreal Children s Hospital Research Institute, Quebec, Canada
    Hum Mutat 12:344-54. 1998
  5. ncbi request reprint A heteroallelic mutant mouse model: A new orthologue for human hyperphenylalaninemia
    C N Sarkissian
    Department of Biology, Department of Human Genetics, Department of Paediatrics, McGill University and Debelle Laboratory, McGill University Montreal Children s Hospital Research Institute, 2300 Tupper Street, A 717, Montreal, Quebec, Canada
    Mol Genet Metab 69:188-94. 2000
  6. ncbi request reprint Homomeric and heteromeric interactions between wild-type and mutant phenylalanine hydroxylase subunits: evaluation of two-hybrid approaches for functional analysis of mutations causing hyperphenylalaninemia
    P J Waters
    DeBelle Laboratory for Biochemical Genetics, Montreal Children s Hospital, Quebec, Canada
    Mol Genet Metab 73:230-8. 2001
  7. ncbi request reprint Does hereditary metabolic disease modulate senescence and ageing?
    C R Scriver
    Department of Human Genetics, McGill University and McGill University Health Centre, Montreal, Quebec, Canada
    J Inherit Metab Dis 25:235-51. 2002
  8. ncbi request reprint Hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase. Unusual gene dosage effect in heterozygotes
    C R Scriver
    McGill University, Children s Hospital Research Institute, Montreal, Quebec, Canada
    Hum Genet 77:168-71. 1987
  9. pmc Prolidase deficiency: biochemical classification of alleles
    A P Boright
    Department of Biology, McGill University, Montreal, Quebec, Canada
    Am J Hum Genet 44:731-40. 1989
  10. pmc Novel PKU mutation on haplotype 2 in French-Canadians
    S W John
    Department of Biology, McGill University, Montreal, Quebec
    Am J Hum Genet 45:905-9. 1989

Collaborators

  • E M Eicher
  • Mary F Lyon
  • L A Tyfield
  • F Y Choy
  • Victoria Mok Siu
  • F Rauch
  • H S Tenenhouse
  • J D McDonald
  • P Hardelid
  • P J Waters
  • Z Q Qiu
  • B C Murphy
  • S Byck
  • M A Parniak
  • P Nowacki
  • C N Sarkissian
  • S M Singh
  • R Travers
  • F H Glorieux
  • L Prevost
  • L Hoang
  • P Ledoux
  • S W John
  • P Hechtman
  • D M Boulais
  • A S Hewson
  • F Kaplan
  • K Carter
  • R Laframboise
  • R Rozen
  • N Akalin
  • C Laberge
  • D Chitayat
  • E Landels
  • M Kaback
  • M Bobrow
  • B Bonne-Tamir
  • A Zoossman-Diskin
  • M Fernandes
  • O A Mamer
  • S Kapoor
  • K Zeiger
  • A Mascisch
  • J Lim-Steele
  • M Vienozinskis
  • D Lee
  • V Hani
  • W Lo
  • H P Shi
  • C Clow
  • R S Daum
  • A Balbul
  • G Vavougios
  • D Mahuran
  • A P Boright
  • G A Lancaster
  • P Lamm
  • E Delvin
  • H Goldman

Detail Information

Publications30

  1. ncbi request reprint Human genetics: lessons from Quebec populations
    C R Scriver
    Departments of Human Genetics, Pediatrics, and Biology, McGill University, Montreal, Quebec, Canada
    Annu Rev Genomics Hum Genet 2:69-101. 2001
    ..How the population benefits from what is being learned about its structure and how its uniqueness could facilitate construction of a genomic map of linkage disequilibrium are discussed...
  2. pmc PAH Mutation Analysis Consortium Database: a database for disease-producing and other allelic variation at the human PAH locus
    L Hoang
    The DeBelle Laboratory, McGill University Montreal Children s Hospital Research Institute, Montreal, Quebec, Canada
    Nucleic Acids Res 24:127-31. 1996
    ..The database, as a record of human genetic diversity, at a particular locus, contributes to the study of human evolution and demic expansion; it also has medical relevance...
  3. ncbi request reprint In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to function
    P J Waters
    Department of Pediatrics, McGill University, Montreal, Quebec, Canada
    Hum Mutat 11:4-17. 1998
    ..Data on in vitro expression of 35 inherited human mutations and 22 created rat mutations are reviewed here. The core data are accessible at the PAH Mutation Analysis Consortium Web site (http://www.mcgill.ca/pahdb)...
  4. ncbi request reprint Alterations in protein aggregation and degradation due to mild and severe missense mutations (A104D, R157N) in the human phenylalanine hydroxylase gene (PAH)
    P J Waters
    De Belle Laboratory for Biochemical Genetics, McGill University Montreal Children s Hospital Research Institute, Quebec, Canada
    Hum Mutat 12:344-54. 1998
    ..Pulse-chase experiments showed increased PAH degradation, probably related to observed aberrations in protein folding and altered oligomerization, as a basic mechanism underlying effects of these missense mutations...
  5. ncbi request reprint A heteroallelic mutant mouse model: A new orthologue for human hyperphenylalaninemia
    C N Sarkissian
    Department of Biology, Department of Human Genetics, Department of Paediatrics, McGill University and Debelle Laboratory, McGill University Montreal Children s Hospital Research Institute, 2300 Tupper Street, A 717, Montreal, Quebec, Canada
    Mol Genet Metab 69:188-94. 2000
    ..The maternal HPA effect on the fetus correlates directly with the degree of hyperphenylalaninemia, but only the ENU2 strain has impaired learning...
  6. ncbi request reprint Homomeric and heteromeric interactions between wild-type and mutant phenylalanine hydroxylase subunits: evaluation of two-hybrid approaches for functional analysis of mutations causing hyperphenylalaninemia
    P J Waters
    DeBelle Laboratory for Biochemical Genetics, Montreal Children s Hospital, Quebec, Canada
    Mol Genet Metab 73:230-8. 2001
    ..These data provide a basis for functional studies on HPA-associated mutations affecting these enzymes...
  7. ncbi request reprint Does hereditary metabolic disease modulate senescence and ageing?
    C R Scriver
    Department of Human Genetics, McGill University and McGill University Health Centre, Montreal, Quebec, Canada
    J Inherit Metab Dis 25:235-51. 2002
    ..reveal genetic factors? If there are 'ageing' mutations, of what types and with what effects? Will these initiatives lead to healthier longevity? A deeper question yet remains: why has human biology invested so greatly in grandparenthood?..
  8. ncbi request reprint Hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase. Unusual gene dosage effect in heterozygotes
    C R Scriver
    McGill University, Children s Hospital Research Institute, Montreal, Quebec, Canada
    Hum Genet 77:168-71. 1987
    ..The complex relationship between erythrocyte PTS activity, and biopterin synthesis in these families indicates genetic heterogeneity at the PTS locus...
  9. pmc Prolidase deficiency: biochemical classification of alleles
    A P Boright
    Department of Biology, McGill University, Montreal, Quebec, Canada
    Am J Hum Genet 44:731-40. 1989
    ..Allelic heterogeneity at the major locus and the amount of alternative peptidase activity encoded elsewhere appear to be determinants of the associated and heterogeneous clinical phenotype...
  10. pmc Novel PKU mutation on haplotype 2 in French-Canadians
    S W John
    Department of Biology, McGill University, Montreal, Quebec
    Am J Hum Genet 45:905-9. 1989
    ..The mutations on haplotypes 1, 4, and 9 are not yet characterized. This preliminary study reveals a novel PKU mutation and considerable genetic heterogeneity at the phenylalanine hydroxylase locus in French-Canadians...
  11. pmc Recurrent mutation, gene conversion, or recombination at the human phenylalanine hydroxylase locus: evidence in French-Canadians and a catalog of mutations
    S W John
    McGill University Montreal Children s Hospital Research Institute, Department of Biology, Quebec, Canada
    Am J Hum Genet 46:970-4. 1990
    ..The finding is compatible with a recurrent mutation, gene conversion, or a single recombination between haplotypes 2 and 1. A tabulation of 20 known mutations at the PAH locus reveals three instances of putative recurrent mutation...
  12. ncbi request reprint Translating knowledge into practice in the "post-genome" era
    C R Scriver
    Department of Biology, McGill University, Montreal Children s Hospital, Montreal, Quebec, Canada
    Acta Paediatr 93:294-300. 2004
    ....
  13. ncbi request reprint After the genome--the phenome?
    C R Scriver
    Department of Biology, McGill University, McGill University Health Center, A 721, Montreal Children s Hospital, 2300 Tupper Street, Montreal, Quebec, Canada H3H 1P3
    J Inherit Metab Dis 27:305-17. 2004
    ..Although the Word is common to all, most men live as if each had a private wisdom of his own.Herakleitos..
  14. ncbi request reprint In vitro and in vivo correlations for I65T and M1V mutations at the phenylalanine hydroxylase locus
    S W John
    Department of Pediatrics, McGill University Montreal Children s Hospital Research Institute, Quebec, Canada
    Hum Mutat 1:147-53. 1992
    ..Homozygosity for M1V and codominant inheritance of I65T/R408W were both associated with classical phenylketonuria...
  15. ncbi request reprint Five mutations at the PAH locus account for almost 90% of PKU mutations in French-Canadians from eastern Quebec
    S W John
    MRC Group in Genetics, McGill University Montreal Children s Hospital Research Institute, Quebec, Canada
    Hum Mutat 1:72-4. 1992
  16. ncbi request reprint CpG methylation accounts for a recurrent mutation (c.1222C>T) in the human PAH gene
    B C Murphy
    Molecular Genetics Unit, Department of Biology and Division of Medical Genetics, The University of Western Ontario, London, Ontario, Canada
    Hum Mutat 27:975. 2006
    ..The finding offers at least one explanation for the high relative frequency of the c.1222C>T (p.R408W) allele in the human population...
  17. ncbi request reprint Prediction of multiple hypermutable codons in the human PAH gene: codon 280 contains recurrent mutations in Quebec and other populations
    S Byck
    McGill University Montreal Children s Hospital Research Institute, Quebec, Canada
    Hum Mutat 9:316-21. 1997
    ..The PAH mutation database shows that the allele accounts for 1.5% of PKU chromosomes worldwide...
  18. ncbi request reprint Effect of gene dose and parental origin on bone histomorphometry in X-linked Hyp mice
    Z Q Qiu
    Department of Biology, McGill University, Montreal, Quebec H3A 1B1, Canada
    Bone 34:134-9. 2004
    ....
  19. pmc The PAH mutation analysis consortium database: update 1996
    P Nowacki
    The DeBelle Laboratory, McGill University Montreal Children s Hospital Research Institute, 2300 Tupper Street, Montreal, Quebec H3H 1P3, Canada
    Nucleic Acids Res 25:139-42. 1997
    ..The primary 'electronic publication' reports now vastly exceed print reports. PAHdb serves as a prototype for obtaining, storing and distributing records of human genetic variation...
  20. ncbi request reprint 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...
  21. ncbi request reprint Hereditary tyrosinaemia type II in a consanguineous Ashkenazi Jewish family: intrafamilial variation in phenotype; absence of parental phenotype effects on the fetus
    D Chitayat
    DeBelle Laboratory for Biochemical Genetics, Montreal Children s Hospital, Quebec, Canada
    J Inherit Metab Dis 15:198-203. 1992
    ..Maternal hypertyrosinaemia and maternal hyperphenylalaninaemia evidently constitute different risk factors for the fetus. Paternal hypertyrosinaemia is apparently not a risk to male infertility...
  22. ncbi request reprint X-linked hypophosphataemia: a homologous phenotype in humans and mice with unusual organ-specific gene dosage
    C R Scriver
    Department of Biology, McGill University, Montreal, Quebec, Canada
    J Inherit Metab Dis 15:610-24. 1992
    ....
  23. ncbi request reprint Conserved loci on the X chromosome confer phosphate homeostasis in mice and humans
    C R Scriver
    DeBelle Laboratory for Biochemical Genetics, McGill University Montreal Children s Hospital Research Institute
    Genet Res 56:141-52. 1990
    ..The tooth data imply that the X chromosome locus is expressed in both renal and non-renal cells. The polypeptide product of the X chromosome gene(s) is still unknown...
  24. pmc The Gy mutation: another cause of X-linked hypophosphatemia in mouse
    M F Lyon
    Proc Natl Acad Sci U S A 83:4899-903. 1986
    ..The Gy translation product, unlike the Hyp product, is also expressed in the inner ear. These findings have implications for our understanding of the human counterpart known as "X-linked hypophosphatemia."..
  25. ncbi request reprint An inherited disorder of isoleucine catabolism causing accumulation of alpha-methylacetoacetate and alpha-methyl-beta -hydroxybutyrate, and intermittent metabolic acidosis
    R S Daum
    Pediatr Res 7:149-60. 1973
  26. ncbi request reprint 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...
  27. ncbi request reprint Parental origin of mutant allele does not explain absence of gene dose in X-linked Hyp mice
    Z Q Qiu
    Department of Biology, McGill University, Montreal, Quebec, Canada
    Genet Res 62:39-43. 1993
    ..We found no effect on the distribution of trait values. We conclude that parental origin of mutant allele does not explain the absence of a gene dose effect in Hyp mice...
  28. pmc Hypophosphatemia: mouse model for human familial hypophosphatemic (vitamin D-resistant) rickets
    E M Eicher
    Proc Natl Acad Sci U S A 73:4667-71. 1976
    ..The mouse model should facilitate study of the defect in transport of plasma inorganic phosphate anion...
  29. pmc Expression and molecular analysis of mutations in prolidase deficiency
    P Ledoux
    Division of Medical Genetics, DeBelle Laboratory, Montreal Children s Hospital Research Institute
    Am J Hum Genet 59:1035-9. 1996
    ..Pulse-chase metabolic labeling of cells followed by immunoprecipitation revealed that the delE452 mutant protein was synthesized but had an increased rate of degradation...
  30. doi request reprint The birth prevalence of PKU in populations of European, South Asian and sub-Saharan African ancestry living in South East England
    P Hardelid
    MRC Centre of Epidemiology for Child Health, UCL Institute of Child Health, London, UK
    Ann Hum Genet 72:65-71. 2008
    ..02-0.37) among black, and 0.29 (0.10-0.63) among Asian ethnic groups. This suggests that PKU is up to an order of magnitude less prevalent in populations with Sub-Saharan African and South Asian ancestry that have migrated to the UK...