C R Scriver

Summary

Affiliation: McGill University
Country: Canada

Publications

  1. ncbi request reprint The PAH gene, phenylketonuria, and a paradigm shift
    Charles R Scriver
    Department of Human Genetics, Faculty of Medicine, McGill University, Montreal, Quebec, Canada
    Hum Mutat 28:831-45. 2007
  2. pmc 2001 ASHG Award for Excellence in Education. ... And know the place for the first time
    Charles R Scriver
    Montreal Children s Hospital, Montreal, Quebec, Canada
    Am J Hum Genet 70:317-23. 2002
  3. 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
  4. 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
  5. ncbi request reprint Community genetics and dignity in diversity in the Quebec Network of Genetic Medicine
    Charles R Scriver
    Department of Biology, Faculties of Science and Medicine, McGill University, Montreal, Canada
    Community Genet 9:142-52. 2006
  6. ncbi request reprint Henry Friesen Award Lecture. Work, the clinician-scientist and human biochemical genetics
    C R Scriver
    Department of Human Genetics, McGill University and McGill University Health Centre, Montreal, Que
    Clin Invest Med 24:179-95. 2001
  7. ncbi request reprint PAHdb 2003: what a locus-specific knowledgebase can do
    Charles R Scriver
    Department of Human Genetics, McGill University Health Centre, Montreal, Canada
    Hum Mutat 21:333-44. 2003
  8. 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
  9. doi request reprint Encomium to accompany "Of mice and children: reminiscences of a teratogeneticist"
    Charles R Scriver
    McGill University, Montreal Children s Hospital Research Institute, Montreal, Quebec, Canada
    Am J Med Genet A 146:2177-8. 2008
  10. ncbi request reprint Why mutation analysis does not always predict clinical consequences: explanations in the era of genomics
    Charles R Scriver
    Department of Human Genetics, McGill University, Montreal, Quebec, Canada
    J Pediatr 140:502-6. 2002

Collaborators

Detail Information

Publications51

  1. ncbi request reprint The PAH gene, phenylketonuria, and a paradigm shift
    Charles R Scriver
    Department of Human Genetics, Faculty of Medicine, McGill University, Montreal, Quebec, Canada
    Hum Mutat 28:831-45. 2007
    ..Knowledge about PKU reveals genomic components of both disease and health...
  2. pmc 2001 ASHG Award for Excellence in Education. ... And know the place for the first time
    Charles R Scriver
    Montreal Children s Hospital, Montreal, Quebec, Canada
    Am J Hum Genet 70:317-23. 2002
  3. 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
    ....
  4. 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..
  5. ncbi request reprint Community genetics and dignity in diversity in the Quebec Network of Genetic Medicine
    Charles R Scriver
    Department of Biology, Faculties of Science and Medicine, McGill University, Montreal, Canada
    Community Genet 9:142-52. 2006
    ..QNGM performed economic analyses of its major programs and followed prevailing ethical guidelines. Its global budget and integrated structure terminated in 1994, although some of its programs continue independently...
  6. ncbi request reprint Henry Friesen Award Lecture. Work, the clinician-scientist and human biochemical genetics
    C R Scriver
    Department of Human Genetics, McGill University and McGill University Health Centre, Montreal, Que
    Clin Invest Med 24:179-95. 2001
    ..What can be known and what ought to be done, with knowledge about human genetics, to benefit individuals, families and communities (society), is both opportunity and challenge...
  7. ncbi request reprint PAHdb 2003: what a locus-specific knowledgebase can do
    Charles R Scriver
    Department of Human Genetics, McGill University Health Centre, Montreal, Canada
    Hum Mutat 21:333-44. 2003
    ..PAHdb contains data on the mouse gene (Pah) and on four orthologous mutant mouse models and their use (for example, in research on oral treatment of PKU with the enzyme phenylalanine ammonia lyase [EC 4.3.1.5])...
  8. 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?..
  9. doi request reprint Encomium to accompany "Of mice and children: reminiscences of a teratogeneticist"
    Charles R Scriver
    McGill University, Montreal Children s Hospital Research Institute, Montreal, Quebec, Canada
    Am J Med Genet A 146:2177-8. 2008
  10. ncbi request reprint Why mutation analysis does not always predict clinical consequences: explanations in the era of genomics
    Charles R Scriver
    Department of Human Genetics, McGill University, Montreal, Quebec, Canada
    J Pediatr 140:502-6. 2002
  11. doi request reprint Garrod's Croonian Lectures (1908) and the charter 'Inborn Errors of Metabolism': albinism, alkaptonuria, cystinuria, and pentosuria at age 100 in 2008
    Charles R Scriver
    Department of Human Genetics, McGill University, Montreal, Canada
    J Inherit Metab Dis 31:580-98. 2008
    ....
  12. 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...
  13. 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...
  14. ncbi request reprint PAHdb: a locus-specific knowledgebase
    C R Scriver
    Departments of Biology, Human Genetics, Medicine, and Pediatrics, McGill University Health Centre, Montreal, Quebec, Canada
    Hum Mutat 15:99-104. 2000
    ..14.16.1); it is "patient friendly" in that it contains information for those personally involved with HPA/PKU (MIM# 261600). PAHdb also serves its community through direct interaction...
  15. 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...
  16. 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...
  17. 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...
  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. 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...
  20. ncbi request reprint Guidelines and recommendations for content, structure, and deployment of mutation databases
    C R Scriver
    DeBelle Laboratory, McGill University, Montreal Children s Hospital Research Institute, QC, Canada
    Hum Mutat 13:344-50. 1999
    ..A set of eight Recommendations completes these Guidelines for Content, Design, and Deployment of Mutation Databases...
  21. 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...
  22. ncbi request reprint 3-Methylglutaconic aciduria: a marker for as yet unspecified disorders and the relevance of prenatal diagnosis in a 'new' type ('type 4')
    D Chitayat
    De Belle Laboratory for Biochemical Genetics, Montreal Children s Hospital, Quebec, Canada
    J Inherit Metab Dis 15:204-12. 1992
    ..Postnatal follow-up confirmed absence of the disease. We give the normal values for amniotic fluid and results on these additional fetuses at risk (none affected)...
  23. 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...
  24. ncbi request reprint Garrod's foresight; our hindsight
    C R Scriver
    Department of Human Genetics, McGill University and McGill University Health Centre, Montreal, Quebec, Canada
    J Inherit Metab Dis 24:93-116. 2001
    ..What can be known and what ought to be done with knowledge about human genetics to benefit individuals, families and communities (society) is both opportunity and challenge...
  25. 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...
  26. ncbi request reprint Monogenic traits are not simple: lessons from phenylketonuria
    C R Scriver
    DeBelle Laboratory for Biochemical Genetics, Montreal Children s Hospital, 2300 Tupper Street, Montreal, Quebec, Canada H3H 1P3
    Trends Genet 15:267-72. 1999
    ....
  27. 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)...
  28. doi request reprint What we know that could influence future treatment of phenylketonuria
    C N Sarkissian
    Department of Biology, Human Genetics and Pediatrics, McGill University, Quebec, Canada
    J Inherit Metab Dis 32:3-9. 2009
    ..This knowledge is now being applied in the development of patient-specific therapies...
  29. 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...
  30. 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...
  31. 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...
  32. doi request reprint A 25-year longitudinal analysis of treatment efficacy in inborn errors of metabolism
    Philippe M Campeau
    Division of Medical Genetics, Department of Pediatrics, A 608, Montreal Children s Hospital, McGill University Health Center, Montreal, Quebec, Canada
    Mol Genet Metab 95:11-6. 2008
    ....
  33. 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...
  34. ncbi request reprint Audiometric evidence for two forms of X-linked hypophosphatemia in humans, apparent counterparts of Hyp and Gy mutations in mouse
    A Boneh
    Department of Pediatrics, Montreal Children s Hospital, Quebec
    Am J Med Genet 27:997-1003. 1987
    ..We suggest the disease in these persons may be the human counterpart of the Gy phenotype in the mouse, which implies there are 2 forms of X-linked hypophosphatemia in humans...
  35. 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...
  36. 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
  37. 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...
  38. 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
    ....
  39. ncbi request reprint Guidelines and recommendations for content, structure, and deployment of mutation databases: II. Journey in progress
    C R Scriver
    DeBelle Laboratory, McGill University Montreal Children s Hospital Research Institute, Montreal, Canada
    Hum Mutat 15:13-5. 2000
    ..The participating community (developers and users) have been moving the project along rapidly, as described here...
  40. pmc The human genome project will not replace the physician
    Charles R Scriver
    McGill University, Montreal, Quebec, Canada
    CMAJ 171:1461-4. 2004
  41. 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...
  42. pmc Preclinical evaluation of multiple species of PEGylated recombinant phenylalanine ammonia lyase for the treatment of phenylketonuria
    Christineh N Sarkissian
    Department of Biology, McGill University, Montreal, QC, Canada H3A 1B1
    Proc Natl Acad Sci U S A 105:20894-9. 2008
    ..Phenylalanine reduction occurred in a dose- and loading-dependent manner, and PEGylation reduced the neutralizing immune response to the enzyme. Human clinical trials with PEG-Av-p.C503S/p.C565S-PAL as a treatment for PKU are underway...
  43. pmc FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide
    Sjozef van Baal
    Erasmus MC, MGC Department of Cell Biology and Genetics, Rotterdam, The Netherlands
    Nucleic Acids Res 35:D690-5. 2007
    ....
  44. ncbi request reprint Structure-based chemical modification strategy for enzyme replacement treatment of phenylketonuria
    Lin Wang
    Department of Molecular Biology, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
    Mol Genet Metab 86:134-40. 2005
    ..The three-dimensional structure of PAL provides a basis for understanding the properties of pegylated forms of PAL and strategies for structure-based re-engineering of PAL for PKU treatment...
  45. ncbi request reprint Genetic diversity within the R408W phenylketonuria mutation lineages in Europe
    Orna Tighe
    Department of Pathology and National Centre for Newborn Screening, The Children s University Hospital, Dublin, Ireland
    Hum Mutat 21:387-93. 2003
    ..However, in the absence of a more extensive STR data-set, no such conclusions are possible for the respective R408W mutant lineages...
  46. ncbi request reprint New approaches to treat PKU: how far are we?
    Nenad Blau
    Department of Pediatrics, University of Zurich, Switzerland
    Mol Genet Metab 81:1-2. 2004
  47. ncbi request reprint The last day of the past is the first day of the future: Transitional care for genetic patients
    Charles R Scriver
    Am J Med 117:615-7. 2004
  48. pmc Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations
    Heidi Erlandsen
    Department of Molecular Biology, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
    Proc Natl Acad Sci U S A 101:16903-8. 2004
    ..Of fundamental importance is the observation that BH4 appears to increase Phe catabolism if at least one of the two heterozygous mutations has any residual activity remaining...
  49. ncbi request reprint Structure-based epitope and PEGylation sites mapping of phenylalanine ammonia-lyase for enzyme substitution treatment of phenylketonuria
    Alejandra Gamez
    Department of Molecular Biology, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
    Mol Genet Metab 91:325-34. 2007
    ....
  50. ncbi request reprint Recommendations of the 2006 Human Variome Project meeting
    Richard G H Cotton
    Genomic Disorders Research Centre, St Vincent s Hospital Melbourne, 35 Victoria Parade, Melbourne, Victoria 3065, Australia
    Nat Genet 39:433-6. 2007
    ..Here we summarize the background of the project, the meeting and its recommendations...
  51. ncbi request reprint Development of pegylated forms of recombinant Rhodosporidium toruloides phenylalanine ammonia-lyase for the treatment of classical phenylketonuria
    Alejandra Gamez
    Department of Molecular Biology, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
    Mol Ther 11:986-9. 2005
    ..The linear 20-kDa PEG-PAL combination abolished in vivo immunogenicity after repeated challenge while retaining full catabolic activity against phenylalanine, suggesting potential as a novel PKU therapeutic...