What do polymorphisms tell us about the mechanisms of COPD?

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What do polymorphisms tell us about the mechanisms of COPD? is …
instance of (P31):
review articleQ7318358
scholarly articleQ13442814

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P356DOI10.1042/CS20160718
P698PubMed publication ID29203722

P50authorYan LiQ85967901
P2093author name stringXiaobo Zhou
Michael H Cho
P2860cites workA gene expression signature of emphysema-related lung destruction and its reversal by the tripeptide GHKQ21183967
Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN)Q22008606
Global Strategy for the Diagnosis, Management, and Prevention of Chronic Obstructive Pulmonary DiseaseQ22299313
FTO Obesity Variant Circuitry and Adipocyte Browning in HumansQ22305008
The structure of SHH in complex with HHIP reveals a recognition role for the Shh pseudo active site in signalingQ24308827
An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxaQ24314373
Genome-wide meta-analyses identify multiple loci associated with smoking behaviorQ24597886
RNA-guided human genome engineering via Cas9Q24598394
Alpha-catenin is a molecular switch that binds E-cadherin-beta-catenin and regulates actin-filament assembly.Q24608988
Multiplex genome engineering using CRISPR/Cas systemsQ24609428
Five years of GWAS discoveryQ24610574
Genome-wide association study identifies five loci associated with lung functionQ24629653
Wnt/beta-catenin signaling: components, mechanisms, and diseasesQ24630938
From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locusQ24633183
Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary functionQ24633262
Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancersQ36742577
Pulmonary arterial enlargement and acute exacerbations of COPDQ36950168
Exome Sequencing Analysis in Severe, Early-Onset Chronic Obstructive Pulmonary DiseaseQ37013121
Hedgehog signaling in neonatal and adult lung.Q37056427
β-catenin in the alveolar epithelium protects from lung fibrosis after intratracheal bleomycinQ37070081
Wnt signaling in lung organogenesisQ37080180
Temporal and Spatial Expression of Transforming Growth Factor-β after Airway Remodeling to Tobacco Smoke in RatsQ37088311
Exome Array Analysis Identifies a Common Variant in IL27 Associated with Chronic Obstructive Pulmonary DiseaseQ37125510
Genes associated with polymorphic variants predicting lung function are differentially expressed during human lung development.Q37138826
Notch-dependent differentiation of adult airway basal stem cellsQ37186787
Analysis of exonic elastin variants in severe, early-onset chronic obstructive pulmonary diseaseQ37211184
Aging and induced senescence as factors in the pathogenesis of lung emphysemaQ37212594
A Chronic Obstructive Pulmonary Disease Susceptibility Gene, FAM13A, Regulates Protein Stability of β-CateninQ37213583
Association between Functional Small Airway Disease and FEV1 Decline in Chronic Obstructive Pulmonary DiseaseQ37213599
A functional mutation in the terminal exon of elastin in severe, early-onset chronic obstructive pulmonary diseaseQ37273940
Patterns of Growth and Decline in Lung Function in Persistent Childhood AsthmaQ37274181
Increasing Generality and Power of Rare-Variant Tests by Utilizing Extended PedigreesQ37342111
Integration of genomic and genetic approaches implicates IREB2 as a COPD susceptibility geneQ37373901
Conditional stabilization of beta-catenin expands the pool of lung stem cellsQ37412788
Loss of integrin alpha(v)beta6-mediated TGF-beta activation causes Mmp12-dependent emphysemaQ44360463
Endogenous lung regeneration: potential and limitationsQ46210244
Genetic Control of Fatty Acid β-Oxidation in Chronic Obstructive Pulmonary DiseaseQ46417648
Serum leptin and skeletal differences between obese and non-obese patients with chronic obstructive pulmonary diseaseQ47163438
Differentiation of Human Pluripotent Stem Cells into Functional Lung Alveolar Epithelial Cells.Q47719385
Inhibition of Wnt/β-catenin signaling promotes engraftment of mesenchymal stem cells to repair lung injuryQ47946445
Reduced Frizzled Receptor 4 Expression Prevents WNT/β-Catenin-driven Alveolar Lung Repair in Chronic Obstructive Pulmonary Disease.Q47963089
Global Strategy for the Diagnosis, Management, and Prevention of Chronic Obstructive Lung Disease 2017 Report. GOLD Executive SummaryQ47984024
Lung-Function Trajectories Leading to Chronic Obstructive Pulmonary Disease.Q50440978
Respiratory disorders: Ironing out smoking-related airway disease.Q51541110
Impaired distal airway development in mice lacking elastin.Q52165576
Mapping of a major genetic modifier of embryonic lethality in TGF beta 1 knockout mice.Q52196601
Genetic epidemiology of severe, early-onset chronic obstructive pulmonary disease. Risk to relatives for airflow obstruction and chronic bronchitis.Q52241091
Large, Diverse Population Cohorts of hiPSCs and Derived Hepatocyte-like Cells Reveal Functional Genetic Variation at Blood Lipid-Associated Loci.Q52427399
WNT1-inducible signaling protein-1 mediates pulmonary fibrosis in mice and is upregulated in humans with idiopathic pulmonary fibrosisQ24650922
Increased metalloproteinase activity, oxidant production, and emphysema in surfactant protein D gene-inactivated miceQ24681813
Trends in Next-Generation Sequencing and a New Era for Whole Genome SequencingQ28066705
Capture Hi-C identifies a novel causal gene, IL20RA, in the pan-autoimmune genetic susceptibility region 6q23Q28109583
Mechanisms and functions of Hedgehog signalling across the metazoaQ28235875
Obesity-associated variants within FTO form long-range functional connections with IRX3Q28236283
Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetesQ28272915
Rtp801, a suppressor of mTOR signaling, is an essential mediator of cigarette smoke-induced pulmonary injury and emphysemaQ28397712
Genetic ablations of iron regulatory proteins 1 and 2 reveal why iron regulatory protein 2 dominates iron homeostasisQ28505771
Feedback control of mammalian Hedgehog signaling by the Hedgehog-binding protein, Hip1, modulates Fgf signaling during branching morphogenesis of the lungQ28508085
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panelQ28607364
BCL11A enhancer dissection by Cas9-mediated in situ saturating mutagenesisQ28607483
A gene-based association method for mapping traits using reference transcriptome dataQ28608356
Bayesian test for colocalisation between pairs of genetic association studies using summary statisticsQ28660129
Genetics of sputum gene expression in chronic obstructive pulmonary diseaseQ28740314
Loss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis-emphysemaQ28771473
Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysisQ29416987
Wnt signalling in stem cells and cancerQ29547862
Systematic localization of common disease-associated variation in regulatory DNAQ29614895
Global strategy for the diagnosis, management, and prevention of chronic obstructive pulmonary disease: GOLD executive summaryQ29614970
Exome sequencing as a tool for Mendelian disease gene discoveryQ29615382
Telomerase mutations in families with idiopathic pulmonary fibrosisQ29615671
The nature of small-airway obstruction in chronic obstructive pulmonary diseaseQ29618682
Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosisQ30274832
Alveolar epithelial cell chemokine expression triggered by antigen-specific cytolytic CD8(+) T cell recognitionQ30306117
Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstructionQ30420166
Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.Q30427183
Signaling network of lipids as a comprehensive scaffold for omics data integration in sputum of COPD patientsQ30983000
Egr-1 regulates autophagy in cigarette smoke-induced chronic obstructive pulmonary diseaseQ33373335
A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility loci.Q33419815
A genome-wide association study of pulmonary function measures in the Framingham Heart StudyQ33419839
Whole exome re-sequencing implicates CCDC38 and cilia structure and function in resistance to smoking related airflow obstruction.Q33553057
Variants in FAM13A are associated with chronic obstructive pulmonary diseaseQ33687879
Obesity, adipokines, and lung diseaseQ33728020
Large-scale genome-wide association studies and meta-analyses of longitudinal change in adult lung functionQ33830476
Receptor for advanced glycation endproducts (RAGE) maintains pulmonary structure and regulates the response to cigarette smokeQ33873927
The Ser82 RAGE Variant Affects Lung Function and Serum RAGE in Smokers and sRAGE Production In VitroQ36166108
Oxidative stress in pathogenesis of chronic obstructive pulmonary disease: cellular and molecular mechanismsQ36207186
Single-cell barcoding and sequencing using droplet microfluidicsQ36215738
Functional interrogation of non-coding DNA through CRISPR genome editingQ36306820
Lung function associated gene Integrator Complex subunit 12 regulates protein synthesis pathwaysQ36320879
The emerging importance of autophagy in pulmonary diseasesQ36388052
Single-cell chromatin accessibility reveals principles of regulatory variationQ36389877
Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputationQ36392496
Role of apoptosis in the pathogenesis of COPD and pulmonary emphysemaQ36434963
Mitochondrial iron chelation ameliorates cigarette smoke-induced bronchitis and emphysema in miceQ36547252
Congenital cutis laxa with a dominant inheritance and early onset emphysemaQ36573905
Dissecting direct and indirect genetic effects on chronic obstructive pulmonary disease (COPD) susceptibility.Q36691602
Genetic control of gene expression at novel and established chronic obstructive pulmonary disease lociQ36724956
Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal developmentQ37417872
Hedgehog signalling: emerging evidence for non-canonical pathwaysQ37462651
Single-cell RNA sequencing identifies diverse roles of epithelial cells in idiopathic pulmonary fibrosis.Q37469191
Colocalization of GWAS and eQTL Signals Detects Target GenesQ37480692
Lung development: orchestrating the generation and regeneration of a complex organQ37507601
Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation mapsQ37613798
A common 16p11.2 inversion underlies the joint susceptibility to asthma and obesityQ37634115
Molecular determinants of lung developmentQ37639254
NOTCH1 is required for regeneration of Clara cells during repair of airway injuryQ37734267
Autophagy in cigarette smoke-induced chronic obstructive pulmonary diseaseQ37798027
RAGE in tissue homeostasis, repair and regeneration.Q38055993
Leptin modulates innate and adaptive immune cell recruitment after cigarette smoke exposure in miceQ38343887
Hedgehog-interacting protein is a COPD susceptibility gene: the Rotterdam StudyQ38377093
Oxidative damage and TGF-β differentially induce lung epithelial cell sonic hedgehog and tenascin-C expression: implications for the regulation of lung remodelling in idiopathic interstitial lung diseaseQ38413953
A Genetic Variant Associated with Five Vascular Diseases Is a Distal Regulator of Endothelin-1 Gene Expression.Q38655393
10 Years of GWAS Discovery: Biology, Function, and TranslationQ38689236
Fine-mapping inflammatory bowel disease loci to single-variant resolutionQ38704623
Toll-like receptor 4 deficiency causes pulmonary emphysema.Q38743977
Genetic variants affecting cross-sectional lung function in adults show little or no effect on longitudinal lung function declineQ38760182
Genome Editing of Lineage Determinants in Human Pluripotent Stem Cells Reveals Mechanisms of Pancreatic Development and DiabetesQ38773986
Patient-Specific iPSC-Derived Endothelial Cells Uncover Pathways that Protect against Pulmonary Hypertension in BMPR2 Mutation CarriersQ38778206
Blockade of RAGE ameliorates elastase-induced emphysema development and progression via RAGE-DAMP signalingQ38985841
An erythroid enhancer of BCL11A subject to genetic variation determines fetal hemoglobin level.Q39081873
TGF-β₂ decreases baseline and IL-13-stimulated mucin production by primary human bronchial epithelial cells.Q39224518
Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targetsQ39568339
Blockade of the Wnt/β-catenin pathway attenuates bleomycin-induced pulmonary fibrosisQ39611228
Integrative functional genomics identifies an enhancer looping to the SOX9 gene disrupted by the 17q24.3 prostate cancer risk locusQ39627440
Activation of the WNT/β-catenin pathway attenuates experimental emphysemaQ39831271
Resident cellular components of the human lung: current knowledge and goals for research on cell phenotyping and function.Q40053427
Discovery of stimulation-responsive immune enhancers with CRISPR activation.Q40065009
Open Chromatin Profiling in hiPSC-Derived Neurons Prioritizes Functional Noncoding Psychiatric Risk Variants and Highlights Neurodevelopmental LociQ40084576
Local lung hypoxia determines epithelial fate decisions during alveolar regeneration.Q40122514
Induced Pluripotent Stem Cell Differentiation Enables Functional Validation of GWAS Variants in Metabolic DiseaseQ40253101
Risk factors in chronic obstructive pulmonary disease (COPD)Q40644528
Familial prevalence of chronic obstructive pulmonary disease in a matched pair studyQ40656485
Emergence of a stage-dependent human liver disease signature with directed differentiation of alpha-1 antitrypsin-deficient iPS cellsQ40843065
Association of plasma adipokines with chronic obstructive pulmonary disease severity and progressionQ40902162
Ferroptosis is an autophagic cell death processQ41162188
A Gata6-Wnt pathway required for epithelial stem cell development and airway regeneration.Q42143150
Analyzing CRISPR genome-editing experiments with CRISPRessoQ42551389
Cigarette smoke disrupts the integrity of airway adherens junctions through the aberrant interaction of p120-catenin with the cytoplasmic tail of MUC1.Q42734887
Epithelial repair mechanisms in the lungQ33916933
Mitophagy-dependent necroptosis contributes to the pathogenesis of COPDQ34117623
Advanced glycation end products and its receptor (RAGE) are increased in patients with COPD.Q34152095
Massively parallel functional dissection of mammalian enhancers in vivoQ34174436
Integrative genomics of chronic obstructive pulmonary disease.Q34232677
Identification of a chronic obstructive pulmonary disease genetic determinant that regulates HHIP.Q34238083
Autophagy protein microtubule-associated protein 1 light chain-3B (LC3B) activates extrinsic apoptosis during cigarette smoke-induced emphysemaQ34279364
The electrophoretic α1-globulin pattern of serum in α1-antitrypsin deficiency. 1963.Q34335215
The association of plasma biomarkers with computed tomography-assessed emphysema phenotypesQ34346490
Haploinsufficiency of Hedgehog interacting protein causes increased emphysema induced by cigarette smoke through network rewiringQ34466780
Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseasesQ34478075
Hhip haploinsufficiency sensitizes mice to age-related emphysemaQ34534888
Refining susceptibility loci of chronic obstructive pulmonary disease with lung eqtlsQ34922245
Polymorphisms in surfactant protein-D are associated with chronic obstructive pulmonary disease.Q34985449
Clinical practice. Alpha1-antitrypsin deficiencyQ34988812
Lineage-negative progenitors mobilize to regenerate lung epithelium after major injuryQ35032592
Telomerase mutations in smokers with severe emphysema.Q35056698
Blue journal conference. Aging and susceptibility to lung diseaseQ35153456
The receptor for advanced glycation end products (RAGE) contributes to the progression of emphysema in miceQ35190905
Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shorteningQ35554660
Chronic obstructive pulmonary disease: molecular and cellularmechanismsQ35569962
Obesity and extent of emphysema depicted at CT.Q35648257
The support of human genetic evidence for approved drug indicationsQ35677036
Evaluating the Performance of Fine-Mapping Strategies at Common Variant GWAS LociQ35787851
A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13.Q35816887
SIRT1 protects against emphysema via FOXO3-mediated reduction of premature senescence in miceQ36005375
Systematic Functional Dissection of Common Genetic Variation Affecting Red Blood Cell TraitsQ36040307
Effect of five genetic variants associated with lung function on the risk of chronic obstructive lung disease, and their joint effects on lung functionQ36099476
Leptin, adiponectin and pulmonary diseasesQ36101219
Common Genetic Polymorphisms Influence Blood Biomarker Measurements in COPD.Q36105702
Novel insights into the genetics of smoking behaviour, lung function, and chronic obstructive pulmonary disease (UK BiLEVE): a genetic association study in UK BiobankQ36123192
Pathogenesis of chronic obstructive pulmonary diseaseQ36129048
CRISPR-Cas9-mediated gene knockout in primary human airway epithelial cells reveals a proinflammatory role for MUC18.Q36143201
P433issue24
P407language of work or nameEnglishQ1860
P304page(s)2847-2863
P577publication date2017-12-04
P1433published inClinical ScienceQ372419
P1476titleWhat do polymorphisms tell us about the mechanisms of COPD?
P478volume131

Reverse relations

cites work (P2860)
Q92253691Airway epithelial cell differentiation relies on deficient Hedgehog signalling in COPD
Q90332541Effects of Chronic Nicotine Inhalation on Systemic and Pulmonary Blood Pressure and Right Ventricular Remodeling in Mice
Q64250312FKBP5 rs4713916: A Potential Genetic Predictor of Interindividual Different Response to Inhaled Corticosteroids in Patients with Chronic Obstructive Pulmonary Disease in a Real-Life Setting

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