Work, the clinician-scientist and human biochemical genetics

Clinical and Investigative Medicine

Volumn 24, Issue 4, 2001, Pages 179-195

  Scriver, C R ^a  

^a RESEARCH INSTITUTE OF THE MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ALBINISM; ALKAPTONURIA; ARTICLE; BIOCHEMISTRY; CYSTINURIA; EVOLUTION; GENE; GENETIC DISORDER; GENOME; HEREDITY; HUMAN; HUMAN GENETICS; INBORN ERROR OF METABOLISM; MEDICINE; METABOLIC DISORDER; MOLECULAR GENETICS; PHENYLKETONURIA; PRIORITY JOURNAL; ANIMAL; AWARDS AND PRIZES; CANADA; GENETICS; HISTORY; HUMAN GENOME PROJECT; MEDICAL SOCIETY; PERSONNEL; PHYSICIAN; WORK;

ANIMALS; AWARDS AND PRIZES; BIOCHEMISTRY; CANADA; GENETICS; HISTORY, 19TH CENTURY; HISTORY, 20TH CENTURY; HUMAN GENOME PROJECT; HUMANS; METABOLISM, INBORN ERRORS; PHENYLKETONURIAS; PHYSICIANS; RESEARCH PERSONNEL; SOCIETIES, MEDICAL; WORK;

EID: 0034794161     PISSN: 0147958X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (114)

1. You're on your own
2. Genetics-based biotechnology: A paradigm for Canadian research
3. The scientific wealth of nations
4. The clinical investigator: Bewitched, bothered and bewildered - But still beloved
5. Shattuck lecture - Medical and societal consequences of the human genome project
6. Disease, war and biology: languages for medicine - And pediatrics
7. Assessing genetic risk
8. Initial sequencing and analysis of the human genome
9. The sequence of the human genome
10. Garrod's foresight; our hindsight
11. Individuality and disease in Garrod's theory of medicine
12. Survey: The human genome
13. Molecular structure of nucleic acids: A structure for deoxyribose nucleic acid
14. Molecular vitalism
15. Nothing in biology makes sense except in the light of evolution
16. Genomics: Journey to the center of biology
17. Genetics: Voyage of discovery for everyman
18. Life with 6000 genes
19. The sequence of the nematode C. elegans: A platform for investigating biology
20. Comparison of the complete protein sets of worm and yeast: Orthology and divergence
21. The Drosophila genome sequence: Implications for biology and medicine
22. Genomics, mutations and the internet: The naming and use of parts
23. DNA sequence of both chromosomes of the cholera pathogen Vibrio cholerae
24. The genome sequence of Drosophila melanogaster
25. Transcriptional regulation of gene expression: Mechanisms and pathophysiology
26. Mouse as the measure of man?
27. Many paths to enlightenment
28. Theory and observation in cultural transmission
29. Evolution by tinkering
30. Evolvability
31. Hershey heaven and Caenorhabditis elegans
32. The awesome power of yeast biochemical genetics
33. A metabolic basis for dominance and recessivity
34. Principles for the buffering of genetic variation
35. The molecular basis of dominance
36. Evolving theories of enzyme evolution
37. The possible modification of wild type to recurrent mutations
38. Sewall Wright and physiological genetics
39. Molecular and evolutionary theories of dominance
40. It's a noisy business! Genetic regulation at the nanomolar scale
41. Detection of amino acids in urine and other fluids
42. Inborn errors of amino acid metabolism
43. Newborn screening by tandem mass spectrometry: A new era
44. The Huxley lecture on diathesis
45. The salience of Garrod's molecular groupings and inborn errors in disease
46. A receptor-mediated pathway for cholesterol homeostasis
47. Albinism
48. Alkaptonuria
49. The nature of the defect in tryosine metabolism in alcaptonuria
50. Alkaptonuria: Such a long journey
51. Alkaptonuria: From humans to moulds and back
52. Cloning of the homogentisate 1,2-dioxygenase gene, the key enzyme of alkaptonuria in mouse
53. Structural and functional analysis of mutations in alkaptonuria
54. Are we ready to try to cure alkaptonuria?
55. NTBC and alkaptonuria
56. Hypertyrosinemia
57. The incidence of alkaptonuria. A study in chemical individuality
58. Cystinuria
59. Amino acid metabolism in cystinuria
60. Mendelian phenotypes as probes of renal transport systems for amino acids and phosphate
61. Phenotypes and genotypes in cystinuria
62. Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine
63. Non-type I cystinuria caused by mutations in SLC7A9 coding for a subunit (bo,+AT) of rBAT
64. Pentosuria
65. The advent of the unpatients
66. Is there treatment for genetic disease?
67. A double-edged sword
68. Phenylketonuria - A problem in eugenics
69. The discovery of phenylketonuria
70. Genes and chemical reactions in Neurospora
71. Hyperphenylalaninemia: Phenylalanine hydroxylase deficiency
72. An evaluation of the possible neurotoxicity of metabolites of phenylalanine
73. Measurement of phenyllactate, phenylacetate, and phenylpyruvate by negative ion chemical ionization-gas chromatography/mass spectrometry in brain of mouse genetic models of phenylketonuria and nonphenyl-ketonuria hyperphenylalaninemia
74. Blood-brain barrier carrier-mediated transport and brain metabolism of amino acids
75. An ongoing debate over phenylalanine hydroxylase deficiency in phenylketonuria
76. Characterization of phenylketonuria missense substitutions, distant from the phenylalanine hydroxylase active site, illustrates a paradigm for molecular and potential modulation of phenotype
77. Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disorders
78. Accelerated transport and maturation of lysosomal alpha-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor
79. Pharmacological chaperones rescue cell-surface expression and function of misfolded V2 vasopressin receptor mutants
80. Antagonists to the rescue
81. The structural basis of phenylketonuria
82. The phenylalanine hydroxylase locus: A marker for the history of phenylketonuria and human genetic diversity
83. Is there a paradigm shift in genetics? Lessons from the study of human diseases
84. Haplotypes and linkage equilibrium at the phenylalanine hydroxylase locus, PAH, in a global representation of population
85. MR imaging and spectroscopy in PKU
86. Blood-brain barrier phenylalanine transport and individual vulnerability in phenylketonuria
87. Monogenic traits are not simple. Lessons from phenylketonuria
88. Relationship between genotype and phenotype in monogenic diseases: Relevance to polygenic diseases
89. Phenotypes of patients with simple Mendelian disorders are complex traits: Thresholds, modifiers, and systems dynamics
90. The effect of Mendelian disease on human health
91. Incidence of inborn errors of metabolism in British Columbia, 1969-1996
92. Survey of science: The edge of ignorance
93. Science and secrecy