Implications of the human genome for understanding human biology and medicine

JAMA

Volumn 286, Issue 18, 2001, Pages 2296-2307

  Subramanian, G ^a   Adams, M D ^a   Venter, J C ^a   Broder, S ^a  

^a CELERA GENOMICS   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN;

ARTICLE; BIOLOGY; CHROMOSOME ARM; CLINICAL PRACTICE; CLINICAL RESEARCH; EUKARYOTE; EVOLUTION; GENE DUPLICATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; MEDICAL GENETICS; MEDICINE; NUCLEOTIDE REPEAT; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SEQUENCE ANALYSIS;

EID: 0035861004     PISSN: 00987484     EISSN: None     Source Type: Journal    
DOI: 10.1001/jama.286.18.2296     Document Type: Article

References (159)

1. The sequence of the human genome
2. Initial sequencing and analysis of the human genome
3. The DNA revolution in population genetics
4. Pharmacogenetics and the practice of medicine
5. Whole genomes
6. Sequencing the entire genomes of free-living organisms
7. Genome sequence of the nematode C. elegans
8. Analysis of the genome sequence of the flowering plant Arabidopsis thaliana
9. The genome sequence of Drosophila melanogaster
10. Gene estimate rises as US and UK discuss freedom of access
11. Gene index analysis of the human genome estimates approximately 120,000 genes
12. Number of CpG islands and genes in human and mouse
13. A draft annotation and overview of the human genome
14. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy
15. Genomics of the major histocompatibility complex
16. Structural evidence of genomic exon-deletion mediated by Alu-Alu recombination in a human case with heme oxygenase-1 deficiency
17. An Alu-mediated 7.1 kb deletion of BRCA1 exons 8 and 9 in breast and ovarian cancer families that results in alternative splicing of exon 10
18. Identification of a new subclass of Alu DNA repeats which can function as estrogen receptor-dependent transcriptional enhancers
19. Identification and characterization of a transcriptional silencer upstream of the human BRCA2 gene
20. Alu-mediated phylogenetic novelties in gene regulation and development
21. DNA repeat expansions and human disease
22. Triplet repeat expansion in neuromuscular disease
23. Pharmacogenetics and future drug development and delivery
24. A polymorphism that affects OCT-1 binding to the TNF promoter region is associated with severe malaria
25. Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus
26. Functional polymorphisms of the human muitidrug-resistance gene
27. Effects of flecainide in patients with new SCN5A mutation
28. From the cover: Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization
29. X inactivation
30. DNA methylation, genomic imprinting and cancer
31. Epigenetics
32. Imprinting-mutation mechanisms in Prader-Willi syndrome
33. Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome
34. Loss of imprinting in normal tissue of colorectal cancer patients with microsatellite instability
35. Immunology: RNA editing AIDs antibody diversification?
36. Requirement of the RNA editing deaminase ADAR1 gene for embryonic erythropoiesis
37. Familial hypercholesterolemia
38. RNA processing and human disease
39. Tau protein isoforms, phosphorylation and role in neurode-generative disorders
40. IL-15
41. Internal ribosome initiation of translation and the control of cell death
42. Proteomics
43. Proteomics to study genes and genomes
44. Tyrosine sulfation
45. Signal-dependent nuclear export of a histone deacetylase regulates muscle differentiation
46. Origin and phylogenetic distribution of Alu DNA repeats
47. Alu interspersed repeats
48. OMIM passes the 1,000-disease-gene mark
49. Our genome unveiled
50. The Pfam protein families database
51. SMART: A web-based tool for the study of genetically mobile domains
52. A striking organization of a large family of human neural cadherin-like cell adhesion genes
53. Large exons encoding multiple ectodomains are a characteristic feature of protocadherin genes
54. Neurexins
55. Apoptotic molecular machinery
56. Apoptosis in the nervous system
57. CD95's deadly mission in the immune system
58. From bench to clinic with apoptosis-based therapeutic agents
59. Use of two-dimensional gel electrophoresis to measure changes in synovial fluid proteins from patients with rheumatoid arthritis treated with antibody to CD4
60. Proteomics as a tool in the pharmaceutical drug design process
61. Microbial genome analysis
62. Proteomic strategies for biomarker identification
63. Protein biochips for differential profiling
64. Proteomic profiling from human samples
65. Genomics and medicine
66. Searching for genetic determinants in the new millennium
67. Population genetics: Making sense out of sequence
68. Therapeutic opportunities in polyglutamine disease
69. Whole-genome methylation scan in ICF syndrome
70. Protein structure modeling for structural genomics
71. Completeness in structural genomics
72. Determination of protein function, evolution and interactions by structural genomics
73. Pharmacogenetic prediction of clozapine response
74. Association of anxiety-related traits with a polymorphism in the serotonin transporter gene regulatory region
75. Relationship between CYP2C9 and 2C19 genotypes and tolbutamide methyl hydroxylation and S-mephenytoin 4′-hydroxylation activities in livers of Japanese and Caucasian populations
76. Effect of polymorphism of the beta(2)-adrenergic receptor on response to regular use of albuterol in asthma
77. Relationship between a GABAA alpha 6 Pro385Ser substitution and benzodiazepine sensitivity
78. Implications of cytochrome P450 2C9 polymorphism on warfarin metabolism and dosing
79. -141 C del/ins polymorphism of the dopamine receptor 2 gene is associated with schizophrenia in a British population
80. D4 dopamine-receptor (DRD4) alleles and novelty seeking in substance-dependent, personality-disorder, and control subjects
81. Functional analysis of the human D5 dopamine receptor missense and nonsense variants
82. In polymorphisms associated with increasedterleukin-1 risk of gastric cancer
83. Association between the T29→C polymorphism in the transforming growth factor 1 gene and breast cancer among elderly white women
84. The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews
85. The APCI1307K allele and cancer risk in a community-based study of Ashkenazi Jews
86. Molecular genetics of cancer susceptibility
87. Methylenetetrahydrofolate reductase polymorphism, dietary interactions, and risk of colorectal cancer
88. Modification of BRCA1-associated breast cancer risk by the polymorphic androgen-receptor CAG repeat
89. Role of a p53 polymorphism in the development of human papillomavirus-associated cancer
90. P53 polymorphism and risk of cervical cancer
91. Contrasting genetic influence of CCR2 and CCR5 variants on HIV-1 infection and disease progression
92. A novel polymorphism in the toll-like receptor 2 gene and its potential association with staphylococcal infection
93. Variations in the NRAMP1 gene and susceptibility to tuberculosis in West Africans
94. Emergence of FY*A(null) in a Plasmodium vivax-endemic region of Papua New Guinea
95. Control of HIV-1 viremia and protection from AIDS are associated with HLA-Bw4 homozygosity
96. A neuronal NO synthase (NOS1) gene polymorphism is associated with asthma
97. A cluster of seven tightly linked polymorphisms in the IL-13 gene is associated with total serum IgE levels in three populations of white children
98. Association between genetic polymorphisms of the beta2-adrenoceptor and response to albuterol in children with and without a history of wheezing
99. DeltaF508 heterozygosity in cystic fibrosis and susceptibility to asthma
100. A new variant of the beta subunit of the high-affinity receptor for immunoglobulin E (Fc epsilon Rl-beta E237G)
101. Pharmacogenetic association between ALOX5 promoter genotype and the response to anti-asthma treatment
102. Deficiency of platelet-activating factor acetylhydrolase is a severity factor for asthma
103. Metabolite profiling for plant functional genomics
104. A functional genomics strategy that uses metabolome data to reveal the phenotype of silent mutations
105. Tissue microarrays for high-throughput molecular profiling of tumor specimens
106. Alterations of gene expression during colorectal carcinogenesis revealed by cDNA microarrays after laser-capture microdissection of tumor tissues and normal epithelia
107. Systematic variation in gene expression patterns in human cancer cell lines
108. Analysis of gene expression profiles in normal and neoplastic ovarian tissue samples identifies candidate molecular markers of epithelial ovarian cancer
109. A gene expression database for the molecular pharmacology of cancer
110. Proteomics - Post-genomic cartography to understand gene function
111. Functional proteomics analysis of signal transduction pathways of the platelet-derived growth factor beta receptor
112. Proteomics in molecular medicine
113. Proteomics to display lovastatin-induced protein and pathway regulation in rat liver
114. Bladder squamous cell carcinoma biomarkers derived from proteomics
115. Proteomic analysis of NMDA receptor-adhesion protein signaling complexes
116. A biological atlas of functional maps
117. Kinesin molecular motors
118. High-throughput yeast two-hybrid assays for large-scale protein interaction mapping
119. Protein interaction maps for model organisms
120. Mini-review: Computational structure-based design of inhibitors that target protein surfaces
121. Progress and potential of Drosophila protein interaction maps
122. Genome-wide analysis of vaccinia virus protein-protein interactions
123. A comprehensive analysis of protein-protein interactions in Saccharomyces cerevisiae
124. The protein-protein interaction map of Helicobacter pylori
125. The Mouse Genome Database (MGD)
126. Comparative genome mapping
127. A database for mouse development
128. Genome sequencing: Celera assembles mouse genome; public labs plan new strategy
129. Genome-wide gene expression profiles of the developing mouse hippocampus
130. Sequence interpretation: Functional annotation of mouse genome sequences
131. A survey of human disease gene counterparts in the Drosophila genome
132. Microarrays and toxicology
133. Alterations in rabbit kidney protein expression following lead exposure as analyzed by two-dimensional gel electrophoresis
134. Bovine dilated cardiomyopathy
135. A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms
136. Dinucleotide repeat polymorphism in the third intron of the NRAMP2/DMT1 gene
137. Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia
138. Angiotensin-II type 1 receptor gene polymorphism and long-term survival in patients with idiopathic congestive heart failure
139. Influence of the angiotensin II type 1 receptor gene polymorphism on the effects of perindopril and nitrendipine on arterial stiffness in hypertensive individuals
140. The beta-adrenoceptor
141. Apolipoprotein E4 allele as a predictor of cholinergic deficits and treatment outcome in Alzheimer disease
142. Frequency of single nucleotide polymorphisms in the P-glycoprotein drug transporter MDR1 gene in white subjects
143. Effect of genotypic differences in CYP2C19 on cure rates for Helicobacter pylori infection by triple therapy with a proton pump inhibitor, amoxicillin, and clarithromycin
144. Mitochondrial disorders
145. Activating and inactivating mutations in the human GNAS1 gene
146. Somatic mosaicism and variable expressivity
147. Noncoding RNA genes
148. Integrated genomic and proteomic analyses of a systematically perturbed metabolic network
149. Implications of the Human Genome Project for medical science
150. US employer agrees to stop genetic testing
151. Railroad agrees to stop gene-testing workers
152. Va. house voices regret for eugenics
153. Racial profiling in medical research