Translating knowledge into practice in the "post-genome" era

Acta Paediatrica, International Journal of Paediatrics

Volumn 93, Issue 3, 2004, Pages 294-300

  Scriver, C R ^a  

^a MONTREAL CHILDREN S HOSPITAL   (Canada)

Author keywords

Clinical relevance; Clinician scientist; Genomics; Genotype; Phenotype; Phenylketonuria; Proteomics

Indexed keywords

MUTANT PROTEIN; PHENYLALANINE 4 MONOOXYGENASE; PROTEIN SUBUNIT; PROTEOME; TETRAHYDROBIOPTERIN;

AMINO ACID BLOOD LEVEL; AMINO ACID BRAIN LEVEL; BIOCHEMISTRY; BIODIVERSITY; CATALYSIS; CELL DIVISION; CHROMOSOME 12Q; CRYSTAL STRUCTURE; DIPLOIDY; DNA ISOLATION; DNA SEQUENCE; DNA STRUCTURE; DNA TRANSCRIPTION; ENZYME ACTIVITY; ENZYME SUBSTRATE; GENE FUNCTION; GENE MUTATION; GENE STRUCTURE; GENETIC HETEROGENEITY; GENETIC TRAIT; GENOMICS; GENOTYPE; HERITABILITY; HETEROZYGOSITY; HOMEOSTASIS; HUMAN; HYPERPHENYLALANINEMIA; MEDICAL PRACTICE; MENTAL DEFICIENCY; MISSENSE MUTATION; MOLECULAR EVOLUTION; NATURAL SELECTION; NEGATIVE FEEDBACK; PATHOGENESIS; PHENOTYPE; PHENYLKETONURIA; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN FOLDING; PROTEIN FUNCTION; PROTEIN MOTIF; PROTEIN PROTEIN INTERACTION; REVIEW; TRANSLATION REGULATION;

GENOME; GENOMICS; GENOTYPE; HOMEOSTASIS; HUMAN GENOME PROJECT; HUMANS; PHENOTYPE; PHENYLKETONURIAS; PROTEOME; PROTEOMICS;

EID: 1542313813     PISSN: 08035253     EISSN: None     Source Type: Journal    
DOI: 10.1080/08035250310024682     Document Type: Review

References (58)

1. Scriver CR. Why mutation analysis does not always predict clinical consequences: Explanation in the era of genomics. J Pediatr 2002; 140: 502-6
2. Scriver CR. After the genome - the phenome? J Inher Metab Dis 2004: in press
3. Guttmacher AE, Collins FS. Welcome to the genomic era. N Engl J Med 2003; 349: 998
4. Scriver CR, Kaufman S. Hyperphenylalaninemia: phenylalanine hydroxylase Deficiency. In: Scriver CR, Beaudet A, Sly WS, Valle D, assoc. editors; Childs B, Kinzler KW, et al, editors. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw Hill; 2001: 1667-724
5. Scriver CR. Why mutation analysis does not always predict clinical consequences: Explanations in the era of genomics. J Pediatr 2002; 140: 502-6
6. Scriver CR. Genetics: voyage of discovery for everyman. Pediat Res 1976; 10: 865-72
7. Cruess RL, Cruess SR, Johnston SE. Professionalism: an ideal to be sustained. The Lancet 2000; 356: 156-9
8. Scriver CR. The Canadian Rutherford Lecture. An evolutionary view of disease in man. Proc R Soc Lond 1984; B 220: 273-98
9. Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, et al. Preface to the 8th edition. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, et al, editors. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw Hill; 2001: xlii-xliv
10. Watson JD, Crick FHC. Molecular structure of nucleic acids: a structure for deoxyribose nucleic acid. Nature 1953; 171: 737-8
11. Dennis C, Campbell P. The eternal molecule. Nature 2003; 421: 396
12. Freimer N, Sabatti C. The Human Phenome Project. Nat Genet 2003; 34: 15-21
13. Scriver CR. Phenylketonuria - genotypes and phenotypes. N Engl J Med 1991; 324: 1280-1
14. Kayaalp E, Treacy E, Waters PJ, Byck S, Nowacki P, Scriver CR. Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations. Am J Hum Genet 1997; 61: 1309-17
15. Guldberg P, Rey F, Zschocke J, Romano C, Francois B, Michiels L, et al. A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype. Am J Hum Genet 1998; 63: 71-9
16. Scriver CR, Waters PJ. Monogenic traits are not simple. Lessons from phenylketonuria. Trends Genet 1999; 15: 267-72
17. Waters PJ. How PAH gene mutations cause hyperphenylalaninemia and why mechanism matters: insights from in vitro expression. Hum Mutat 2003; 21: 357-69
18. Denton M, Marshall C. Laws of form revisited. Nature 2001; 410: 417
19. Treacy E, Pitt JJ, Seller J, Thompson GN, Ramus S, Cotton RGH. In vivo disposal of phenylalanine in phenylketonuria: a study of two siblings. J Inher Metab Dis 1996; 19: 595-602
20. Knox WE. Retrospective study of phenylketonuria: relation of phenyl-pyruvate excretion to plasma phenylalanine. PKU Newsletter 1970; #2
21. Ramus SJ, Forrest SM, Pitt DB, Saleeba JA, Cotton RGH. Comparison of genotype and intellectual phenotype in untreated PKU patients. J Med Genet 1993; 30: 401-5
22. Weglage J, Wiedermann D, Denecke J, Feldman R, Koch H-G, Ullrich K, et al. Individual blood-brain barrier phenylalanine transport in siblings with classical phenylketonuria. J Inherit Metab Dis 2002; 25: 431-6
23. Moller HE, Weglage J, Widermann D, Ullrich K. Blood-brain barrier phenylalanine transport and individual vulerability in phenylketonuria. J Cereb Blood Flow Metab 1998; 18: 1184-91
24. Blau N. Disorders of tetrahydrobiopterin and related biogenic amines. In: Scriver CR, Beaudet AL, Sly SW, Valle D, assoc. editors; Childs B, Kinzler KW, et al, editors. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw Hill; 2003
25. Muntau AC, Roschinger W, Habich M, Demmelmair HH, Hoffmann B, Sommhoff CP, et al. Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. N Engl J Med 2002; 347: 2122-32
26. Brooks CL, Onuchic JN, Wales DJ. Taking a walk on a landscape. Science 2001; 293: 612-3
27. Gregersen N, Bross P, Andresen BS, Pedersen CB, Corydon TJ, Bolund L. The role of chaperone-assisted folding and quality control in inborn errors of metabolism: protein folding disorders. J Inner Metab Dis 2001; 24: 189-212
28. Vladutiu GD. Heterozygosity: an expanding role in proteomics. Molec Genet Metab 2001; 74: 51-63
29. Badano JL, Katsanis N. Beyond Mendel: an evolving view of human genetic disease transmission. Nat Rev Genet 2002; 3: 779-89
30. Plasterk RHA. Hershey heaven and Caenorhabditis elegans. Nat Genet 1999; 21: 63-4
31. Hartman JL, Garvik B, Hartwell L. Principles for the buffering of genetic variation. Science 2001; 291: 1001-4
32. Barkai N, Leiber S. Robustness in simple biochemical networks. Nature 1997; 387: 913-7
33. Hartwell LH, Hopfield JJ, Leiber S, Murray AW. From molecular to modular cell biology. Nature 1999; 402, Suppl.: C47-C52
34. Jeong H, Tombor B, Albert R, Otlval ZN, Barabasi AL. The large-scale organization of metabolic networks. Nature 2000; 407: 651-4
35. Oltvai ZN, Barabasi AL. Life's complexity pyramid. Science 2002; 298: 763-4
36. Alon U. Biological networks: the tinkerer as an engineer. Science 2003; 301: 1866-7
37. Barabasi A-L. Linked: the new science of networks. Cambridge, MA: Perseus; 2002
38. Jacob F. Evolution and tinkering. Science 1977; 196: 1161-6
39. Wright S. Molecular and evolutionary theories of dominance. Am Nat 1934; 68: 24-53
40. Kacser H, Burns JA. The molecular basis of dominance. Genetics 1981; 97: 639-66
41. Kacser H, Burns JA. The control of flux. Symp Soc Exp Biol 1973; 27: 65-104
42. Tong AHY, Evangelista M, Parsons AB, Xu H, Bader GD, Page N, et al. Systematic genetic analysis with ordered arrays of yeast deletion mutants. Science 2001; 294: 2364-8
43. Mayr E. The growth of biological thought. Diversity, evolution and inheritance. Cambridge, MA: The Belknap Press of Harvard University Press; 1982
44. Kirschner M, Gerhart J, Mitchison T. Molecular "vitalism". Cell 2000; 100: 79-88
45. Kauffman SA. The origins of order. New York: Oxford University Press; 1993
46. Antonarakis S, McKusick VA. OMIM passes the 1,000-disease-gene mark. Nature Genet 2000; 25: 11
47. Jimenez-Sanchez G, Childs B, Valle D. Human disease genes. Nature 2001; 409: 853-5
48. Kumar A, Snyder M. Protein complexes take the bait. Nature 2002; 415: 123-4
49. Gavin A-C, Bosche M, Krause R, et al. Functional organization of the yeast proteome by systematic analysis of protein complexes. Nature 2002; 415: 141-7
50. Ho Y, Gruhler A, Heilbut A, et al. Systematic identification of protein complexes in Saccharomyces cerevisiae by mass spectrometry. Nature 2002; 415: 180-3
51. Glazier AM, Nadeau JH, Altman TJ. Finding genes that underlie complex traits. Science 2002; 298: 2345-9
52. McAdam HH, Arkin A. It's a noisy business! Genetic regulation at the nanomolar scale. Trends Genet 1999; 15: 65-9
53. Ideker T, Thorsson V, Ranish JA, Christmas R, Buhler J, Eng JK, et al. Integrated genomic and proteomic analyses of a systematically perturbed metabolic network. Science 2001; 292: 929-34
54. Weiss KM, Buchanan AV. Evolution by phenotype: a biomedical perspective. Persp Biol Med 2003; 46: 159-82
55. Hall JG. A clinician's plea. Nat Genet 2003; 33: 440-2
56. Scriver CR. Work, the clinician-scientist and human biochemical genetics. Henry Friesen Award Lecture. Clin Invest Med 2001; 24: 179-95
57. Rosenberg LE. The physician-scientist: an essential - and fragile - link in the medical research chain. J Clin Invest 1999; 103: 1621-6
58. Dobzhansky T. Nothing in biology makes sense except in the light of evolution. Am Biol Teacher 1973; 35: 125-9