#PAGE_PARAMS# #ADS_HEAD_SCRIPTS# #MICRODATA#

Fifty Years On: GWAS Confirms the Role of a Rare Variant in Lung Disease

English version České info

article has not abstract

Vyšlo v časopise: Fifty Years On: GWAS Confirms the Role of a Rare Variant in Lung Disease. PLoS Genet 9(8): e32767. doi:10.1371/journal.pgen.1003768
Kategorie: Perspective
prolekare.web.journal.doi_sk: https://doi.org/10.1371/journal.pgen.1003768

Souhrn

article has not abstract

Zdroje

1. ThunGA, ImbodenM, FerrarottiI, KumarA, ObeidatM, et al. (2013) Causal and synthetic associations of variants in the serpina gene cluster with alpha1-antitrypsin serum levels. PLoS Genet 9 (8) e1003585 doi:10.1371/journal.pgen.1003585

2. ObeidatM, WainLV, ShrineN, KalshekerN, ArtigasMS, et al. (2011) A comprehensive evaluation of potential lung function associated genes in the SpiroMeta general population sample. PLoS One 6: e19382.

3. SorheimIC, BakkeP, GulsvikA, PillaiSG, JohannessenA, et al. (2010) alpha(1)-Antitrypsin protease inhibitor MZ heterozygosity is associated with airflow obstruction in two large cohorts. Chest 138: 1125–1132.

4. LaurellCB, ErikssonS (1963) The electrophoretic alpha 1 globulin pattern of serum in alpha 1 antitrypsin deficiency. Scand J Clin Lab Invest 15: 132–140.

5. CarrellRW, JeppssonJO, LaurellCB, BrennanSO, OwenMC, et al. (1982) Structure and variation of human alpha 1-antitrypsin. Nature 298: 329–334.

6. LuisettiM, SeersholmN (2004) Alpha1-antitrypsin deficiency. 1: epidemiology of alpha1-antitrypsin deficiency. Thorax 59: 164–169.

7. Global Initiative for Obstructive Lung Disease.Available: http://www.goldcopd.org. Accessed June 2013.

8. PillaiSG, GeD, ZhuG, KongX, ShiannaKV, et al. (2009) A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility loci. PLoS Genet 5: e1000421.

9. HunninghakeGM, ChoMH, TesfaigziY, Soto-QuirosME, AvilaL, et al. (2009) MMP12, lung function, and COPD in high-risk populations. N Engl J Med 361: 2599–2608.

10. CalverleyPM, AndersonJA, CelliB, FergusonGT, JenkinsC, et al. (2007) Salmeterol and fluticasone propionate and survival in chronic obstructive pulmonary disease. N Engl J Med 356: 775–789.

11. ChapmanKR, StockleyRA, DawkinsC, WilkesMM, NavickisRJ (2009) Augmentation therapy for alpha1 antitrypsin deficiency: a meta-analysis. COPD 6: 177–184.

12. StockleyRA, ParrDG, PiitulainenE, StolkJ, StoelBC, et al. (2010) Therapeutic efficacy of alpha-1 antitrypsin augmentation therapy on the loss of lung tissue: an integrated analysis of 2 randomised clinical trials using computed tomography densitometry. Respir Res 11: 136.

Štítky

Genetika Reprodukčná medicína

Článek Genome-Wide DNA Methylation Analysis of Systemic Lupus Erythematosus Reveals Persistent Hypomethylation of Interferon Genes and Compositional Changes to CD4+ T-cell Populations

Článek Re-Ranking Sequencing Variants in the Post-GWAS Era for Accurate Causal Variant Identification

Článek Histone Variant HTZ1 Shows Extensive Epistasis with, but Does Not Increase Robustness to, New Mutations

Článek Past Visits Present: TCF/LEFs Partner with ATFs for β-Catenin–Independent Activity

Článek Functional Characterisation of Alpha-Galactosidase A Mutations as a Basis for a New Classification System in Fabry Disease

Článek A Flexible Approach for the Analysis of Rare Variants Allowing for a Mixture of Effects on Binary or Quantitative Traits

Článek Masculinization of Gene Expression Is Associated with Exaggeration of Male Sexual Dimorphism

Článek Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

Článek Endogenous Stress Caused by Faulty Oxidation Reactions Fosters Evolution of 2,4-Dinitrotoluene-Degrading Bacteria

Článek Transposon Domestication versus Mutualism in Ciliate Genome Rearrangements

Článek Comparative Anatomy of Chromosomal Domains with Imprinted and Non-Imprinted Allele-Specific DNA Methylation

Článek An Essential Function for the ATR-Activation-Domain (AAD) of TopBP1 in Mouse Development and Cellular Senescence

Článek Depletion of Retinoic Acid Receptors Initiates a Novel Positive Feedback Mechanism that Promotes Teratogenic Increases in Retinoic Acid

Článek Bypass of 8-oxodG

Článek Calpain-6 Deficiency Promotes Skeletal Muscle Development and Regeneration

Článek ATM Release at Resected Double-Strand Breaks Provides Heterochromatin Reconstitution to Facilitate Homologous Recombination

Článek Generation of Tandem Direct Duplications by Reversed-Ends Transposition of Maize Elements

Článek Loss of a Conserved tRNA Anticodon Modification Perturbs Cellular Signaling

Článek Integrated Model of and Inherited Genetic Variants Yields Greater Power to Identify Risk Genes

Článek High-Throughput Genetic and Gene Expression Analysis of the RNAPII-CTD Reveals Unexpected Connections to SRB10/CDK8

Článek Dynamic Rewiring of the Retinal Determination Network Switches Its Function from Selector to Differentiation

Článek β-Catenin-Independent Activation of TCF1/LEF1 in Human Hematopoietic Tumor Cells through Interaction with ATF2 Transcription Factors

Článek Genetic Mapping of Specific Interactions between Mosquitoes and Dengue Viruses

Článek A Highly Redundant Gene Network Controls Assembly of the Outer Spore Wall in

Článek Origin and Functional Diversification of an Amphibian Defense Peptide Arsenal

Článek Myc-Driven Overgrowth Requires Unfolded Protein Response-Mediated Induction of Autophagy and Antioxidant Responses in

Článek Integrative Modeling of eQTLs and Cis-Regulatory Elements Suggests Mechanisms Underlying Cell Type Specificity of eQTLs

Článek Species and Population Level Molecular Profiling Reveals Cryptic Recombination and Emergent Asymmetry in the Dimorphic Mating Locus of

Článek Ras-Induced Changes in H3K27me3 Occur after Those in Transcriptional Activity

Článek Characterization of the p53 Cistrome – DNA Binding Cooperativity Dissects p53's Tumor Suppressor Functions

Článek Global Analysis of Fission Yeast Mating Genes Reveals New Autophagy Factors

Článek Deficiency Suppresses Intestinal Tumorigenesis

Článek Introns Regulate Gene Expression in in a Pab2p Dependent Pathway

Článek Meiotic Recombination Initiation in and around Retrotransposable Elements in

Článek Comparative Oncogenomic Analysis of Copy Number Alterations in Human and Zebrafish Tumors Enables Cancer Driver Discovery

Článek Comparative Genomic and Functional Analysis of 100 Strains and Their Comparison with Strain GG

Článek A Model-Based Analysis of GC-Biased Gene Conversion in the Human and Chimpanzee Genomes

Článek Masculinization of the X Chromosome in the Pea Aphid

Článek The Architecture of a Prototypical Bacterial Signaling Circuit Enables a Single Point Mutation to Confer Novel Network Properties

Článek Distinct SUMO Ligases Cooperate with Esc2 and Slx5 to Suppress Duplication-Mediated Genome Rearrangements

Článek The Yeast Environmental Stress Response Regulates Mutagenesis Induced by Proteotoxic Stress

Článek Mediator Directs Co-transcriptional Heterochromatin Assembly by RNA Interference-Dependent and -Independent Pathways

Článek The Genome of and the Basis of Host-Microsporidian Interactions

Článek Regulation of Sister Chromosome Cohesion by the Replication Fork Tracking Protein SeqA

Článek Neuronal Reprograming of Protein Homeostasis by Calcium-Dependent Regulation of the Heat Shock Response

Článek A Nuclear Calcium-Sensing Pathway Is Critical for Gene Regulation and Salt Stress Tolerance in

Článek Cross-Species Array Comparative Genomic Hybridization Identifies Novel Oncogenic Events in Zebrafish and Human Embryonal Rhabdomyosarcoma

Článek : A Mouse Strain with an Ift140 Mutation That Results in a Skeletal Ciliopathy Modelling Jeune Syndrome

Článek The Relative Contribution of Proximal 5′ Flanking Sequence and Microsatellite Variation on Brain Vasopressin 1a Receptor () Gene Expression and Behavior

Článek Combining Quantitative Genetic Footprinting and Trait Enrichment Analysis to Identify Fitness Determinants of a Bacterial Pathogen

Článek The Innocence Project at Twenty: An Interview with Barry Scheck

Článek Computational Identification of Diverse Mechanisms Underlying Transcription Factor-DNA Occupancy

Článek GUESS-ing Polygenic Associations with Multiple Phenotypes Using a GPU-Based Evolutionary Stochastic Search Algorithm

Článek H2A.Z Acidic Patch Couples Chromatin Dynamics to Regulation of Gene Expression Programs during ESC Differentiation

Článek Identification of DSB-1, a Protein Required for Initiation of Meiotic Recombination in , Illuminates a Crossover Assurance Checkpoint

Článek Binding of TFIIIC to SINE Elements Controls the Relocation of Activity-Dependent Neuronal Genes to Transcription Factories

Článek Global Analysis of the Sporulation Pathway of

Článek Genetic Circuits that Govern Bisexual and Unisexual Reproduction in

Článek Deletion of microRNA-80 Activates Dietary Restriction to Extend Healthspan and Lifespan

Článek The Enhancer Landscape during Early Neocortical Development Reveals Patterns of Dense Regulation and Co-option

Článek Gene Expression Regulation by Upstream Open Reading Frames and Human Disease

Článek Sociogenomics of Cooperation and Conflict during Colony Founding in the Fire Ant

Článek The Intronic Long Noncoding RNA Recruits PRC2 to the Promoter, Reducing the Expression of and Increasing Cell Proliferation

Článek The , p.E318G Variant Increases the Risk of Alzheimer's Disease in -ε4 Carriers

Článek The Wilms Tumor Gene, , Is Critical for Mouse Spermatogenesis via Regulation of Sertoli Cell Polarity and Is Associated with Non-Obstructive Azoospermia in Humans

Článek Reversible and Rapid Transfer-RNA Deactivation as a Mechanism of Translational Repression in Stress

Článek QTL Analysis of High Thermotolerance with Superior and Downgraded Parental Yeast Strains Reveals New Minor QTLs and Converges on Novel Causative Alleles Involved in RNA Processing

Článek Genome Wide Association Identifies Novel Loci Involved in Fungal Communication

Článek Chromatin Sampling—An Emerging Perspective on Targeting Polycomb Repressor Proteins

Článek A Recessive Founder Mutation in Regulator of Telomere Elongation Helicase 1, , Underlies Severe Immunodeficiency and Features of Hoyeraal Hreidarsson Syndrome

Článek Genome-Wide Association of Body Fat Distribution in African Ancestry Populations Suggests New Loci

Článek Causal and Synthetic Associations of Variants in the Gene Cluster with Alpha1-antitrypsin Serum Levels

Článek Hard Selective Sweep and Ectopic Gene Conversion in a Gene Cluster Affording Environmental Adaptation

Článek Brittle Culm1, a COBRA-Like Protein, Functions in Cellulose Assembly through Binding Cellulose Microfibrils

Článek Chromosomal Copy Number Variation, Selection and Uneven Rates of Recombination Reveal Cryptic Genome Diversity Linked to Pathogenicity

Článek The Ribosomal Protein Rpl22 Controls Ribosome Composition by Directly Repressing Expression of Its Own Paralog, Rpl22l1

Článek Ras1 Acts through Duplicated Cdc42 and Rac Proteins to Regulate Morphogenesis and Pathogenesis in the Human Fungal Pathogen

Článek The DSB-2 Protein Reveals a Regulatory Network that Controls Competence for Meiotic DSB Formation and Promotes Crossover Assurance

Článek Recurrent Modification of a Conserved -Regulatory Element Underlies Fruit Fly Pigmentation Diversity

Článek Associations of Mitochondrial Haplogroups B4 and E with Biliary Atresia and Differential Susceptibility to Hydrophobic Bile Acid

Článek The Conditional Nature of Genetic Interactions: The Consequences of Wild-Type Backgrounds on Mutational Interactions in a Genome-Wide Modifier Screen

Článek A Critical Function of Mad2l2 in Primordial Germ Cell Development of Mice

Článek A Role for CF1A 3′ End Processing Complex in Promoter-Associated Transcription

Článek Vitellogenin Underwent Subfunctionalization to Acquire Caste and Behavioral Specific Expression in the Harvester Ant

Článok vyšiel v časopise

PLOS Genetics

2013 Číslo 8

Najčítanejšie tento týždeň

Najčítanejšie v tomto čísle

Kurzy

Zvýšte si kvalifikáciu online z pohodlia domova

Získaná hemofilie - Povědomí o nemoci a její diagnostika

nový kurz

Eozinofilní granulomatóza s polyangiitidou

Autori: doc. MUDr. Martina Doubková, Ph.D.

#ADS_BOTTOM_SCRIPTS#