Publications
396 results found
Conrad DF, Keebler JEM, DePristo MA, et al., 2011, Variation in genome-wide mutation rates within and between human families, NATURE GENETICS, Vol: 43, Pages: 712-U137, ISSN: 1061-4036
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- Citations: 397
Ege M, Mayer M, Normand A, et al., 2011, Exposure to environmental microorganisms and its inverse relation to childhood asthma, 30th Congress of the European-Academy-of-Allergy-and-Clinical-Immunology (EAACI), Publisher: WILEY-BLACKWELL, Pages: 57-57, ISSN: 0105-4538
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- Citations: 6
Freidin MB, Bhudia N, Lim E, et al., 2011, SAMPLE HANDLING AND PROCESSING ARE CRITICAL FACTORS INFLUENCING THE RESULTS OF WHOLE GENOME GENE EXPRESSION PROFILING IN LUNG CANCER TISSUES, Publisher: LIPPINCOTT WILLIAMS & WILKINS, Pages: S373-S374, ISSN: 1556-0864
Freidin MB, Nicholson AG, Lim E, et al., 2011, GLOBAL GENE EXPRESSION PROFILING TO IDENTIFY COMMON NETWORKS UNDERLYING LUNG CANCER AND SPECIFIC MARKERS OF DIFFERENT LUNG CANCER HISTOLOGICAL TYPES, Publisher: LIPPINCOTT WILLIAMS & WILKINS, Pages: S455-S455, ISSN: 1556-0864
Cookson WOC, Moffatt MF, 2011, Genetics of complex airway disease., Proc Am Thorac Soc, Vol: 8, Pages: 149-153
The past 3 years have seen highly significant genetic effects identified for a wide variety of common complex diseases, including the airway disorders of asthma and chronic obstructive pulmonary disease. It appears that only a portion of the genetically mediated susceptibility to complex diseases has been identified, and there is much left to be discovered. This review briefly describes the results of the genome-wide association studies of asthma and gives an overview of the parallel and increasingly large-scale studies that are taking place with chronic obstructive pulmonary disease. The future impact is discussed of technological advances that allow increasingly large-scale gene expression studies, next-generation sequencing, and genome-wide testing for epigenetic effects. The use of genetic technology to examine the airway microbiota that interact with the mucosa in health and disease is described.
Zhang M, Liang L, Morar N, et al., 2011, Integrating pathway analysis and genetics of gene expression for genome-wide association study on basal cell carcinoma, CANCER RESEARCH, Vol: 71, ISSN: 0008-5472
Renz H, von Mutius E, Brandtzaeg P, et al., 2011, Gene-environment interactions in chronic inflammatory disease, NATURE IMMUNOLOGY, Vol: 12, Pages: 273-277, ISSN: 1529-2908
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- Citations: 122
Ege MJ, Mayer M, Normand A-C, et al., 2011, Exposure to Environmental Microorganisms and Childhood Asthma, NEW ENGLAND JOURNAL OF MEDICINE, Vol: 364, Pages: 701-709, ISSN: 0028-4793
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- Citations: 1076
Holt RJ, Zhang Y, Binia A, et al., 2011, Allele-specific transcription of the asthma-associated PHD finger protein 11 gene (PHF11) modulated by octamer-binding transcription factor 1 (Oct-1)., Journal of Allergy and Clinical Immunology, Vol: 127, Pages: 1054-1062.e2, ISSN: 0091-6749
Asthma is a common, chronic inflammatory airway disease of major public health importance with multiple genetic determinants. Previously, we found by positional cloning that PHD finger protein 11 (PHF11) on chromosome 13q14 modifies serum immunoglobulin E (IgE) concentrations and asthma susceptibility. No coding variants in PHF11 were identified.ObjectiveHere we investigate the 3 single nucleotide polymorphisms (SNPs) in this gene most significantly associated with total serum IgE levels—rs3765526, rs9526569, and rs1046295—for a role in transcription factor binding.MethodsWe used electrophoretic mobility shift assays to examine the effect of the 3 SNPs on transcription factor binding in 3 cell lines relevant to asthma pathogenesis. Relative preferential expression of alleles was investigated by using the allelotyping method.ResultsElectrophoretic mobility shift assays show that rs1046295 modulates allele-specific binding by the octamer-binding transcription factor 1 (Oct-1). Analysis of the relative expression levels of the 2 alleles of this SNP in heterozygous individuals showed a modest, but highly significant (P = 6.5 × 10−16), preferential expression of the A allele consistent with a functional role for rs1046295.ConclusionThese results suggest a mechanism by which rs1046295 may act as a regulatory variant modulating transcription at this locus and altering asthma susceptibility.
Mills RE, Walter K, Stewart C, et al., 2011, Mapping copy number variation by population-scale genome sequencing, NATURE, Vol: 470, Pages: 59-65, ISSN: 0028-0836
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- Citations: 792
Ege MJ, Strachan DP, Cookson WOCM, et al., 2011, Gene-environment interaction for childhood asthma and exposure to farming in Central Europe, JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, Vol: 127, Pages: 138-U226, ISSN: 0091-6749
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- Citations: 113
Molyneaux PL, Mallia P, Duff RM, et al., 2011, Investigating The Role Of Rhinovirus Infection In Precipitating Bacterial Infections In COPD Using Culture Independent Molecular Microbiology, Publisher: AMER THORACIC SOC, ISSN: 1073-449X
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- Citations: 1
Wan YI, Shrine NRG, Soler-Artigas M, et al., 2011, Comprehensive Evaluation Of Mild-To-Moderate Asthma Genes In Severe Asthma (AUGOSA), Publisher: AMER THORACIC SOC, ISSN: 1073-449X
Wan YI, Soler-Artigas M, Shrine NRG, et al., 2011, Genome-Wide Association Study To Identify Genetic Determinants Of Severe Asthma (AUGOSA), Publisher: AMER THORACIC SOC, ISSN: 1073-449X
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- Citations: 1
Marth GT, Yu F, Indap AR, et al., 2011, The functional spectrum of low-frequency coding variation, GENOME BIOLOGY, Vol: 12, ISSN: 1474-760X
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- Citations: 155
Thompson AR, Natanek SA, Willis-Owen SA, et al., 2011, Gene Expression Profiling Of Quadriceps Femoris Muscle In COPD, Publisher: AMER THORACIC SOC, ISSN: 1073-449X
Ding J, Gudjonsson JE, Liang L, et al., 2010, Gene Expression in Skin and Lymphoblastoid Cells: Refined Statistical Method Reveals Extensive Overlap in <i>cis</i>-eQTL Signals, AMERICAN JOURNAL OF HUMAN GENETICS, Vol: 87, Pages: 779-789, ISSN: 0002-9297
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- Citations: 144
Sudmant PH, Kitzman JO, Antonacci F, et al., 2010, Diversity of human copy number variation and multicopy genes, Science, Vol: 330, Pages: 641-646, ISSN: 0036-8075
Copy number variants affect both disease and normal phenotypic variation, but those lying within heavily duplicated, highly identical sequence have been difficult to assay. By analyzing short-read mapping depth for 159 human genomes, we demonstrated accurate estimation of absolute copy number for duplications as small as 1.9 kilobase pairs, ranging from 0 to 48 copies. We identified 4.1 million "singly unique nucleotide" positions informative in distinguishing specific copies and used them to genotype the copy and content of specific paralogs within highly duplicated gene families. These data identify human-specific expansions in genes associated with brain development, reveal extensive population genetic diversity, and detect signatures consistent with gene conversion in the human species. Our approach makes ∼1000 genes accessible to genetic studies of disease association.
Altshuler D, Durbin RM, Abecasis GR, et al., 2010, A map of human genome variation from population-scale sequencing, NATURE, Vol: 467, Pages: 1061-1073, ISSN: 0028-0836
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- Citations: 4415
Binia A, Khorasani N, Bhavsar PK, et al., 2010, Chromosome 17q21 SNP and severe asthma, Journal of Human Genetics, Vol: 56, Pages: 97-98, ISSN: 1435-232X
DeWan AT, Triche EW, Xu X, et al., 2010, <i>PDE11A</i> associations with asthma: Results of a genome-wide association scan, JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, Vol: 126, Pages: 871-U321, ISSN: 0091-6749
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- Citations: 39
Moffatt MF, Gut IG, Demenais F, et al., 2010, A Large-Scale, Consortium-Based Genomewide Association Study of Asthma, NEW ENGLAND JOURNAL OF MEDICINE, Vol: 363, Pages: 1211-1221, ISSN: 0028-4793
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- Citations: 1474
Harper JI, Godwin H, Green A, et al., 2010, A study of matrix metalloproteinase expression and activity in atopic dermatitis using a novel skin wash sampling assay for functional biomarker analysis, BRITISH JOURNAL OF DERMATOLOGY, Vol: 162, Pages: 397-403, ISSN: 0007-0963
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- Citations: 52
Mathias RA, Grant AV, Rafaels N, et al., 2010, A genome-wide association study on African-ancestry populations for asthma, JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, Vol: 125, Pages: 336-346, ISSN: 0091-6749
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- Citations: 140
Sleiman PMA, Flory J, Imielinski M, et al., 2010, Variants of <i>DENND1B</i> Associated with Asthma in Children, NEW ENGLAND JOURNAL OF MEDICINE, Vol: 362, Pages: 36-44, ISSN: 0028-4793
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- Citations: 253
Hilty M, Burke C, Pedro H, et al., 2010, Disordered Microbial Communities in Asthmatic Airways, PLOS ONE, Vol: 5, ISSN: 1932-6203
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- Citations: 1171
Genuneit J, Cantelmo JL, Weinmayr G, et al., 2009, A multi-centre study of candidate genes for wheeze and allergy: the International Study of Asthma and Allergies in Childhood Phase 2, CLINICAL AND EXPERIMENTAL ALLERGY, Vol: 39, Pages: 1875-1888, ISSN: 0954-7894
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- Citations: 41
Taylor JM, Street TL, Hao L, et al., 2009, Dynamic and Physical Clustering of Gene Expression during Epidermal Barrier Formation in Differentiating Keratinocytes, PLOS ONE, Vol: 4, ISSN: 1932-6203
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- Citations: 26
Zhang Y, Cookson W, Moffatt M, 2009, Pharmacogenetics and Pharmacogenomics of Airway Diseases, Pharmacology and Therapeutics of Airway Disease, Editors: Barnes, Chung, Publisher: Taylor & Francis Group
I. Introduction Asthma and chronic obstructive pulmonary disease (COPD) are complex syndromes of airway inflammation. Asthma is a disease of the small airways of the lung. Intermittent narrowing of the respiratory bronchioles produces airway limitation and the symptoms of wheezing, chest tightness, and breathlessness. By contrast, in COPD the limitation of airflow is poorly reversible and usually gets progressively worse over time. The disease is primarily, but not exclusively, seen in smokers and former smokers. Environmental and genetic factors contribute to the etiology of both diseases. Cigarette smoking is the main risk factor for COPD, although less than 20% of chronic heavy smokers will develop symptoms of airway obstruction (1). Bronchodilators and corticosteroids are currently the most common medications used in the treatment of asthma and COPD.
Himes BE, Hunninghake GM, Baurley JW, et al., 2009, Genome-wide Association Analysis Identifies <i>PDE4D</i> as an Asthma-Susceptibility Gene, AMERICAN JOURNAL OF HUMAN GENETICS, Vol: 84, Pages: 581-593, ISSN: 0002-9297
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- Citations: 248
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