Related references
Note: Only part of the references are listed.TMEM173 variants and potential importance to human biology and disease
Seema Patel et al.
GENES AND IMMUNITY (2019)
Advances in chronic obstructive pulmonary disease genetics: building the picture one piece at a time
Simonetta Baraldo
LANCET RESPIRATORY MEDICINE (2019)
Early-onset emphysema in a large French-Canadian family: a genetic investigation
Yohan Bosse et al.
LANCET RESPIRATORY MEDICINE (2019)
The association of AKNA gene polymorphisms with knee osteoarthritis suggests the relevance of this immune response regulator in the disease genetic susceptibility
Gabriela Angelica Martinez-Nava et al.
MOLECULAR BIOLOGY REPORTS (2018)
The role of common protective alleles HLA-DRB1*13 among systemic autoimmune diseases
H. Furukawa et al.
GENES AND IMMUNITY (2017)
Functional interactors of three genome-wide association study genes are differentially expressed in severe chronic obstructive pulmonary disease lung tissue
Jarrett D. Morrow et al.
SCIENTIFIC REPORTS (2017)
The cellular and molecular determinants of emphysematous destruction in COPD
Masaru Suzuki et al.
SCIENTIFIC REPORTS (2017)
Exome sequencing in diseased and healthy subjects with α-1 antitrypsin deficiency
Chiara Rigobello et al.
EUROPEAN RESPIRATORY JOURNAL (2017)
QueryOR: a comprehensive web platform for genetic variant analysis and prioritization
Loris Bertoldi et al.
BMC BIOINFORMATICS (2017)
Exome Array Analysis Identifies a Common Variant in IL27 Associated with Chronic Obstructive Pulmonary Disease
Brian D. Hobbs et al.
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2016)
Network Analysis of Lung Transcriptomics Reveals a Distinct B-Cell Signature in Emphysema
Rosa Faner et al.
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2016)
Ensembl comparative genomics resources
Javier Herrero et al.
DATABASE-THE JOURNAL OF BIOLOGICAL DATABASES AND CURATION (2016)
The continuum of causality in human genetic disorders
Nicholas Katsanis
GENOME BIOLOGY (2016)
Immune Activation in α1-Antitrypsin-Deficiency Emphysema Beyond the Protease-Antiprotease Paradigm
Simonetta Baraldo et al.
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2015)
PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels
Yongwook Choi et al.
BIOINFORMATICS (2015)
Italian Registry of Patients with Alpha-1 Antitrypsin Deficiency: General Data and Quality of Life Evaluation
Maurizio Luisetti et al.
COPD-JOURNAL OF CHRONIC OBSTRUCTIVE PULMONARY DISEASE (2015)
Effects of Type 1 Diabetes-Associated IFIH1 Polymorphisms on MDA5 Function and Expression
Benjamin M. Looney et al.
CURRENT DIABETES REPORTS (2015)
Genomic variant annotation and prioritization with ANNOVAR and wANNOVAR
Hui Yang et al.
NATURE PROTOCOLS (2015)
Protective alleles and modifier variants in human health and disease
Andrew R. Harper et al.
NATURE REVIEWS GENETICS (2015)
DANN: a deep learning approach for annotating the pathogenicity of genetic variants
Daniel Quang et al.
BIOINFORMATICS (2015)
Genome-Wide Study of Percent Emphysema on Computed Tomography in the General Population The Multi-Ethnic Study of Atherosclerosis Lung/SNP Health Association Resource Study
Ani Manichaikul et al.
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2014)
Antigenic peptide molecular recognition by the DRB1-DQB1 haplotype modulates multiple sclerosis susceptibility
Amit Kumar et al.
MOLECULAR BIOSYSTEMS (2014)
A general framework for estimating the relative pathogenicity of human genetic variants
Martin Kircher et al.
NATURE GENETICS (2014)
The Reactome pathway knowledgebase
David Croft et al.
NUCLEIC ACIDS RESEARCH (2014)
Analysis of Ancestral and Functionally Relevant CD5 Variants in Systemic Lupus Erythematosus Patients
Maria Carmen Cenit et al.
PLOS ONE (2014)
The Electrophoretic α1-Globulin Pattern of Serum in α1-Antitrypsin Deficiency
Carl-Bertil Laurell et al.
COPD-JOURNAL OF CHRONIC OBSTRUCTIVE PULMONARY DISEASE (2013)
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease
David N. Cooper et al.
HUMAN GENETICS (2013)
dbNSFP v2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations
Xiaoming Liu et al.
HUMAN MUTATION (2013)
Anti-inflammatory and immunomodulatory properties of α1-antitrypsin without inhibition of elastase
Danny Jonigk et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
T-cell modulatory properties of CD5 and its role in antitumor immune responses
Mouna Tabbekh et al.
ONCOIMMUNOLOGY (2013)
Alpha-1 Antitrypsin: A Potent Anti-Inflammatory and Potential Novel Therapeutic Agent
David A. Bergin et al.
ARCHIVUM IMMUNOLOGIAE ET THERAPIAE EXPERIMENTALIS (2012)
KEGG for integration and interpretation of large-scale molecular data sets
Minoru Kanehisa et al.
NUCLEIC ACIDS RESEARCH (2012)
Exome sequencing as a tool for Mendelian disease gene discovery
Michael J. Bamshad et al.
NATURE REVIEWS GENETICS (2011)
Genetics of Sputum Gene Expression in Chronic Obstructive Pulmonary Disease
Weiliang Qiu et al.
PLOS ONE (2011)
Advanced glycation end products and its receptor (RAGE) are increased in patients with COPD
Lian Wu et al.
RESPIRATORY MEDICINE (2011)
The discovery of α1-antitrypsin and its rote in health and disease
Sabina M. Janciauskiene et al.
RESPIRATORY MEDICINE (2011)
Genome-wide association study identifies five loci associated with lung function
Emmanouela Repapi et al.
NATURE GENETICS (2010)
Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function
Dana B. Hancock et al.
NATURE GENETICS (2010)
Enrichment Map: A Network-Based Method for Gene-Set Enrichment Visualization and Interpretation
Daniele Merico et al.
PLOS ONE (2010)
Multiple sclerosis and polymorphisms of innate pattern recognition receptors TLR1-10, NOD1-2, DDX58, and IFIH1
Christian Enevold et al.
JOURNAL OF NEUROIMMUNOLOGY (2009)
REL, encoding a member of the NF-κB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis
Peter K. Gregersen et al.
NATURE GENETICS (2009)
Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources
Da Wei Huang et al.
NATURE PROTOCOLS (2009)
MECHANISMS OF DISEASE Immunologic Aspects of Chronic Obstructive Pulmonary Disease
Manuel G. Cosio et al.
NEW ENGLAND JOURNAL OF MEDICINE (2009)
Determinants of airflow obstruction in severe alpha-1-antitrypsin deficiency
Dawn L. DeMeo et al.
THORAX (2007)
Large-scale identification and characterization of human genes that activate NF-κB and MAPK signaling pathways
A Matsuda et al.
ONCOGENE (2003)
Cytoscape: A software environment for integrated models of biomolecular interaction networks
P Shannon et al.
GENOME RESEARCH (2003)
Molecular mechanisms of alpha1-antitrypsin null alleles
JH Lee et al.
RESPIRATORY MEDICINE (2000)
Share Paper
