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Tytuł:
Rare variants in alpha 1 antitrypsin deficiency: a systematic literature review.
Autorzy:
Ferrarotti I; Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, Department of Internal Medicine and Therapeutics, Pneumology Unit, University of Pavia, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy. .
Wencker M; conresp, Loerzweiler, Germany.
Chorostowska-Wynimko J; Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland.
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Feb 22; Vol. 19 (1), pp. 82. Date of Electronic Publication: 2024 Feb 22.
Typ publikacji:
Systematic Review; Journal Article; Review
MeSH Terms:
alpha 1-Antitrypsin Deficiency*/genetics
alpha 1-Antitrypsin Deficiency*/complications
Humans ; alpha 1-Antitrypsin/genetics ; Germany ; Italy ; Lung ; Spain
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Characteristics of alpha-1 antitrypsin deficiency related lung disease exacerbations using a daily symptom diary and urinary biomarkers.
Autorzy:
Ellis P; Institute of Applied Health Research, University of Birmingham, Birmingham, United Kingdom.; University Hospitals Birmingham NHS Foundation Trust, Birmingham, United Kingdom.
Parekh G; Mologic Ltd, Thurleigh, Bedford, United Kingdom.
Duvoix A; Mologic Ltd, Thurleigh, Bedford, United Kingdom.
Watson L; Mologic Ltd, Thurleigh, Bedford, United Kingdom.
Sharp A; Institute of Applied Health Research, University of Birmingham, Birmingham, United Kingdom.
Mobeen F; Institute of Applied Health Research, University of Birmingham, Birmingham, United Kingdom.
Pye A; Institute of Applied Health Research, University of Birmingham, Birmingham, United Kingdom.
Stockley R; Institute of Inflammation and Aging, University of Birmingham, Birmingham, United Kingdom.
Turner A; Institute of Applied Health Research, University of Birmingham, Birmingham, United Kingdom.; University Hospitals Birmingham NHS Foundation Trust, Birmingham, United Kingdom.
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Źródło:
PloS one [PLoS One] 2024 Feb 02; Vol. 19 (2), pp. e0297125. Date of Electronic Publication: 2024 Feb 02 (Print Publication: 2024).
Typ publikacji:
Journal Article
MeSH Terms:
Pulmonary Disease, Chronic Obstructive*/complications
Pulmonary Disease, Chronic Obstructive*/diagnosis
Pulmonary Disease, Chronic Obstructive*/drug therapy
alpha 1-Antitrypsin Deficiency*/complications
alpha 1-Antitrypsin Deficiency*/diagnosis
alpha 1-Antitrypsin Deficiency*/drug therapy
Humans ; Quality of Life ; Lung ; Disease Progression ; Biomarkers ; alpha 1-Antitrypsin
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Cardiovascular disease in Alpha 1 antitrypsin deficiency: an observational study assessing the role of neutrophil proteinase activity and the suitability of validated screening tools.
Autorzy:
Sapey E; Institute of Inflammation and Ageing, University of Birmingham, Birmingham, B15 2GW, UK.; University Hospitals Birmingham NHS Foundation Trust, Edgbaston, Birmingham, West Midlands, UK.
Crowley LE; Institute of Inflammation and Ageing, University of Birmingham, Birmingham, B15 2GW, UK. .; University Hospitals Birmingham NHS Foundation Trust, Edgbaston, Birmingham, West Midlands, UK. .
Edgar RG; Institute of Applied Health, University of Birmingham, Birmingham, West Midlands, UK.
Griffiths D; University Hospitals Birmingham NHS Foundation Trust, Edgbaston, Birmingham, West Midlands, UK.
Samanta S; UCL Respiratory, University College London, London, UK.
Crisford H; Institute of Inflammation and Ageing, University of Birmingham, Birmingham, B15 2GW, UK.
Bolton CE; NIHR Nottingham BRC Respiratory Theme, School of Medicine, University of Nottingham, City Hospital NUH Trust, Nottingham, UK.
Hurst JR; UCL Respiratory, University College London, London, UK.
Stockley RA; University Hospitals Birmingham NHS Foundation Trust, Edgbaston, Birmingham, West Midlands, UK.
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Mar 21; Vol. 19 (1), pp. 130. Date of Electronic Publication: 2024 Mar 21.
Typ publikacji:
Observational Study; Journal Article
MeSH Terms:
alpha 1-Antitrypsin Deficiency*/complications
Cardiovascular Diseases*
Lung Diseases*/complications
Pulmonary Disease, Chronic Obstructive*/etiology
Humans ; alpha 1-Antitrypsin ; Myeloblastin ; Neutrophils ; Pulse Wave Analysis/adverse effects
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Alpha-1 antitrypsin deficiency and pregnancy complications and birth outcomes: A population-based cohort study in Denmark.
Autorzy:
Orimoloye HT; Department of Rehabilitation and Health Services, University of North Texas, Denton, Texas, United States of America.
He D; Department of Epidemiology, Fielding School of Public Health, University of California, Los Angeles, Los Angeles, California, United States of America.
Li T; Department of Epidemiology, Fielding School of Public Health, University of California, Los Angeles, Los Angeles, California, United States of America.
Janzen C; Department of Obstetrics and Gynecology, University of California, Los Angeles, Los Angeles, California, United States of America.
Barjaktarevic I; Division of Pulmonary and Critical Care, University of California, Los Angeles, Los Angeles, California, United States of America.
Wang X; Department of Biostatistics, Florida International University, Miami, Florida, United States of America.
Hansen J; Danish Cancer Society, Copenhagen, Denmark.
Heck JE; Department of Rehabilitation and Health Services, University of North Texas, Denton, Texas, United States of America.; Department of Epidemiology, Fielding School of Public Health, University of California, Los Angeles, Los Angeles, California, United States of America.
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Źródło:
PloS one [PLoS One] 2024 Jan 02; Vol. 19 (1), pp. e0296434. Date of Electronic Publication: 2024 Jan 02 (Print Publication: 2024).
Typ publikacji:
Journal Article
MeSH Terms:
alpha 1-Antitrypsin Deficiency*/complications
alpha 1-Antitrypsin Deficiency*/epidemiology
alpha 1-Antitrypsin Deficiency*/diagnosis
Pregnancy Complications*/epidemiology
Premature Birth*
Female ; Humans ; Infant, Newborn ; Pregnancy ; alpha 1-Antitrypsin ; Cohort Studies ; Denmark/epidemiology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Type 1 diabetes contributes to combined pulmonary fibrosis and emphysema in male alpha 1 antitrypsin deficient mice.
Autorzy:
Park SS; Department of Cell Biology, State University of New York Downstate Health Sciences University, Brooklyn, New York, United States of America.
Mai M; Department of Medicine, State University of New York Downstate Health Sciences University, Brooklyn, New York, United States of America.
Ploszaj M; Department of Medicine, State University of New York Downstate Health Sciences University, Brooklyn, New York, United States of America.
Cai H; Department of Medicine, State University of New York Downstate Health Sciences University, Brooklyn, New York, United States of America.
McGarvey L; Department of Medicine, State University of New York Downstate Health Sciences University, Brooklyn, New York, United States of America.
Mueller C; The Li Weibo Institute for Rare Diseases Research, Horae Gene Therapy Center, Worcester, Massachusetts, United States of America.; Department of Pediatrics, University of Massachusetts Chan Medical School, Worcester, Massachusetts, United States of America.
Garcia-Arcos I; Department of Cell Biology, State University of New York Downstate Health Sciences University, Brooklyn, New York, United States of America.; Department of Medicine, State University of New York Downstate Health Sciences University, Brooklyn, New York, United States of America.
Geraghty P; Department of Cell Biology, State University of New York Downstate Health Sciences University, Brooklyn, New York, United States of America.; Department of Medicine, State University of New York Downstate Health Sciences University, Brooklyn, New York, United States of America.
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Źródło:
PloS one [PLoS One] 2023 Oct 11; Vol. 18 (10), pp. e0291948. Date of Electronic Publication: 2023 Oct 11 (Print Publication: 2023).
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Diabetes Mellitus, Type 1*/complications
Pulmonary Fibrosis*/complications
Pulmonary Emphysema*/complications
Pulmonary Emphysema*/pathology
alpha 1-Antitrypsin Deficiency*/complications
alpha 1-Antitrypsin Deficiency*/genetics
alpha 1-Antitrypsin Deficiency*/metabolism
Hyperglycemia*/complications
Humans ; Male ; Animals ; Mice ; alpha 1-Antitrypsin/genetics ; alpha 1-Antitrypsin/metabolism ; Mice, Inbred C57BL ; Collagen ; RNA, Messenger
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Population genetic testing and SERPINA1 sequencing identifies unidentified alpha-1 antitrypsin deficiency alleles and gene-environment interaction with hepatitis C infection.
Autorzy:
Schuler BA; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, United States of America.; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, Tennessee, United States of America.
Bastarache L; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, Tennessee, United States of America.
Wang J; Department of Biostatistics, Vanderbilt University Medical Center, Nashville, Tennessee, United States of America.
He J; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, Tennessee, United States of America.
Van Driest SL; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, United States of America.; Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, United States of America.
Denny JC; All of Us Research Program, National Institutes of Health, Bethesda, Maryland, United States of America.; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.
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Źródło:
PloS one [PLoS One] 2023 Aug 31; Vol. 18 (8), pp. e0286469. Date of Electronic Publication: 2023 Aug 31 (Print Publication: 2023).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
MeSH Terms:
alpha 1-Antitrypsin Deficiency*/diagnosis
alpha 1-Antitrypsin Deficiency*/genetics
Hepatitis C*/genetics
Humans ; Alleles ; Gene-Environment Interaction ; Retrospective Studies ; Hepacivirus/genetics ; Genetics, Population ; alpha 1-Antitrypsin/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The prevalence of bronchiectasis in patients with alpha-1 antitrypsin deficiency: initial report of EARCO.
Autorzy:
Stockley RA; Respiratory Medicine, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK. .
Pye A; Institute of Applied Health Research, University of Birmingham, Birmingham, UK.
De Soyza J; Institute of Applied Health Research, University of Birmingham, Birmingham, UK.
Turner AM; Institute of Applied Health Research, University of Birmingham, Birmingham, UK.
Miravitlles M; Pneumology Department, Hospital Universitari Vall d'Hebron, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.
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Corporate Authors:
EARCO study investigators
Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Aug 12; Vol. 18 (1), pp. 243. Date of Electronic Publication: 2023 Aug 12.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
alpha 1-Antitrypsin Deficiency*/complications
alpha 1-Antitrypsin Deficiency*/epidemiology
alpha 1-Antitrypsin Deficiency*/genetics
Bronchiectasis*/epidemiology
Pulmonary Emphysema*
Female ; Humans ; Male ; alpha 1-Antitrypsin/genetics ; Phenotype ; Prevalence
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Lung Inflammation in alpha-1-antitrypsin deficient individuals with normal lung function.
Autorzy:
Kokturk N; Division of Pulmonary, Critical Care and Sleep Medicine, J. Hillis Miller Health Science Center, University of Florida College of Medicine, P.O. Box 100225, Gainesville, FL, 32610-0225, USA.; Department of Pulmonary and Critical Care, Gazi University School of Medicine, Ankara, Turkey.
Khodayari N; Division of Pulmonary, Critical Care and Sleep Medicine, J. Hillis Miller Health Science Center, University of Florida College of Medicine, P.O. Box 100225, Gainesville, FL, 32610-0225, USA.
Lascano J; Division of Pulmonary, Critical Care and Sleep Medicine, J. Hillis Miller Health Science Center, University of Florida College of Medicine, P.O. Box 100225, Gainesville, FL, 32610-0225, USA.
Riley EL; Kansas City Veterans Affair Medical Center, Kansas, TX, USA.
Brantly ML; Division of Pulmonary, Critical Care and Sleep Medicine, J. Hillis Miller Health Science Center, University of Florida College of Medicine, P.O. Box 100225, Gainesville, FL, 32610-0225, USA. .
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Źródło:
Respiratory research [Respir Res] 2023 Feb 02; Vol. 24 (1), pp. 40. Date of Electronic Publication: 2023 Feb 02.
Typ publikacji:
Journal Article
MeSH Terms:
alpha 1-Antitrypsin Deficiency*/diagnosis
alpha 1-Antitrypsin Deficiency*/epidemiology
alpha 1-Antitrypsin Deficiency*/genetics
Pulmonary Disease, Chronic Obstructive*/diagnosis
Pneumonia*
Humans ; Leukocyte Elastase ; Interleukin-8 ; alpha 1-Antitrypsin/genetics ; Lung ; Inflammation/diagnosis
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The impact of diagnostic delay on survival in alpha-1-antitrypsin deficiency: results from the Austrian Alpha-1 Lung Registry.
Autorzy:
Meischl T; Karl Landsteiner Institute for Lung Research and Pulmonary Oncology, Klinik Ottakring, Montleartstraße 37, 1160, Vienna, Austria.; Division of Gastroenterology and Hepatology, Department of Medicine III, Medical University of Vienna, Vienna, Austria.
Schmid-Scherzer K; Karl Landsteiner Institute for Lung Research and Pulmonary Oncology, Klinik Ottakring, Montleartstraße 37, 1160, Vienna, Austria.; Department of Medicine II With Pneumology, Klinik Ottakring, Vienna, Austria.
Vafai-Tabrizi F; Karl Landsteiner Institute for Lung Research and Pulmonary Oncology, Klinik Ottakring, Montleartstraße 37, 1160, Vienna, Austria.; Department of Medicine II With Pneumology, Klinik Ottakring, Vienna, Austria.
Wurzinger G; Center of Pulmology, LKH Graz II, Standort Enzenbach, Gratwein-Strassengel, Austria.
Traunmüller-Wurm E; Department of Pulmology, Klinikum Wels-Grieskirchen, Wels, Austria.
Kutics K; Department of Pulmology, Klinikum Wels-Grieskirchen, Wels, Austria.
Rauter M; Department of Pulmonology, Klinikum Klagenfurt Am Woerthersee, Klagenfurt, Austria.
Grabcanovic-Musija F; Public Health Office, City of Salzburg, Salzburg, Austria.
Müller S; Department of Pulmonology, Landeskrankenhaus Hohenems, Hohenems, Austria.
Kaufmann N; Division of Gastroenterology, Infectiology and Pneumology, Department of Medicine, LKH Graz II, Graz, Austria.
Löffler-Ragg J; Department of Medicine II, Medical University of Innsbruck, Innsbruck, Austria.
Valipour A; Karl Landsteiner Institute for Lung Research and Pulmonary Oncology, Klinik Ottakring, Montleartstraße 37, 1160, Vienna, Austria.; Department of Respiratory and Critical Care Medicine, Klinik Floridsdorf, Vienna, Austria.
Funk GC; Karl Landsteiner Institute for Lung Research and Pulmonary Oncology, Klinik Ottakring, Montleartstraße 37, 1160, Vienna, Austria. .; Department of Medicine II With Pneumology, Klinik Ottakring, Vienna, Austria. .
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Źródło:
Respiratory research [Respir Res] 2023 Jan 27; Vol. 24 (1), pp. 34. Date of Electronic Publication: 2023 Jan 27.
Typ publikacji:
Journal Article
MeSH Terms:
alpha 1-Antitrypsin Deficiency*/diagnosis
alpha 1-Antitrypsin Deficiency*/epidemiology
alpha 1-Antitrypsin Deficiency*/complications
Pulmonary Disease, Chronic Obstructive*/diagnosis
Pulmonary Disease, Chronic Obstructive*/epidemiology
Humans ; Delayed Diagnosis ; Prospective Studies ; Austria/epidemiology ; Lung ; alpha 1-Antitrypsin ; Registries
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Clinical and functional characteristics of individuals with alpha-1 antitrypsin deficiency: EARCO international registry.
Autorzy:
Miravitlles M; Pneumology Department, Hospital Universitari Vall d'Hebron; Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035, Barcelona, Spain. .; Centro de Investigación Biomédica en Red de Enfermedades Respiratorias (CIBERES), Instituto de Salud Carlos III, Madrid, Spain. .
Turner AM; Respiratory Medicine, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK.; Institute of Applied Health Research, University of Birmingham, Birmingham, UK.
Torres-Duran M; Servicio de Neumología. Hospital Álvaro Cunqueiro. NeumoVigo I+I Research Group, IIS Galicia Sur, Vigo, Spain.
Tanash H; Department of Respiratory Medicine and Allergology, Skåne University Hospital, Lund University, Malmö, Sweden.
Rodríguez-García C; Servicio de Neumología, Complejo Hospitalario Clínico-Universitario de Santiago, Santiago de Compostela, Spain.
López-Campos JL; Centro de Investigación Biomédica en Red de Enfermedades Respiratorias (CIBERES), Instituto de Salud Carlos III, Madrid, Spain.; Unidad Médico-Quirúrgica de Enfermedades Respiratorias. Instituto de Biomedicina de Sevilla (IBiS), Hospital Universitario Virgen del Rocío/Universidad de Sevilla, Sevilla, Spain.
Chlumsky J; Department of Pneumology, Thomayer Hospital, First Faculty of Medicine, Charles University, Prague, Czech Republic.
Guimaraes C; Pulmonology Department, Hospital da Senhora da Oliveira, Guimarães, Portugal.
Rodríguez-Hermosa JL; Servicio de Neumología. Hospital Clínico de San Carlos. Departamento de Medicina, Facultad de Medicina, , Universidad Complutense de Madrid, Madrid, Spain.; Research Institute of Hospital Clínico San Carlos (IdISSC), Madrid, Spain.
Corsico A; Pneumology Unit, IRCCS San Matteo Hospital Foundation, Pavia, Italy.; Department of Internal Medicine and Therapeutics, University of Pavia, Pavia, Italy.
Martinez-González C; Pneumology Department, Hospital Universitario Central de Asturias, Instituto de Investigacion Sanitaria del Principado de Asturias, Oviedo, Spain.
Hernández-Pérez JM; Pneumology Department, Hospital Universitario Nuestra Señora de La Candelaria, Santa Cruz de Tenerife, Spain.
Bustamante A; Pneumology Section, Hospital Sierrallana-TresMares , Cantabria, Spain.
Parr DG; Department of Respiratory Medicine, University Hospitals of Coventry and Warwickshire, Clifford Bridge Road, Coventry, UK.
Casas-Maldonado F; Servicio de Neumología. Hospital Clínico Universitario San Cecilio. Departamento de Medicina, Facultad de Medicina, Universidad de Granada, Granada, Spain.
Hecimovic A; Clinic for Respiratory Diseases, University Hospital Center Zagreb, Zagreb, Croatia.; School of Medicine, University of Zagreb, Zagreb, Croatia.
Janssens W; Laboratory of Respiratory Diseases, Department of Chronic Disease, Metabolism and Ageing, Katholieke Universiteit (KU) Leuven, Leuven, Belgium.; Department of Respiratory Diseases, University Hospitals Leuven, Leuven, Belgium.
Lara B; Department of Respiratory Medicine, University Hospitals of Coventry and Warwickshire, Clifford Bridge Road, Coventry, UK.
Barrecheguren M; Pneumology Department, Hospital Universitari Vall d'Hebron; Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035, Barcelona, Spain.
González C; Servicio de Neumología, Hospital Clínico Universitario de Valencia. Instituto de Investigación INCLIVA, Valencia, Spain.
Stolk J; Department of Pulmonology, Leiden University Medical Center, Leiden, The Netherlands.
Esquinas C; Pneumology Department, Hospital Universitari Vall d'Hebron; Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035, Barcelona, Spain.
Clarenbach CF; Division of Pulmonology, University Hospital Zurich, Zurich, Switzerland.
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Źródło:
Respiratory research [Respir Res] 2022 Dec 16; Vol. 23 (1), pp. 352. Date of Electronic Publication: 2022 Dec 16.
Typ publikacji:
Journal Article; Observational Study
MeSH Terms:
alpha 1-Antitrypsin Deficiency*/diagnosis
alpha 1-Antitrypsin Deficiency*/epidemiology
alpha 1-Antitrypsin Deficiency*/genetics
Bronchiectasis*/diagnosis
Bronchiectasis*/epidemiology
Pulmonary Disease, Chronic Obstructive*/genetics
Pulmonary Emphysema*/diagnosis
Pulmonary Emphysema*/epidemiology
Pulmonary Emphysema*/complications
Humans ; Male ; alpha 1-Antitrypsin/genetics ; Cross-Sectional Studies ; Genotype ; Prospective Studies ; Registries
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Overexpression of Alpha-1 Antitrypsin Increases the Proliferation of Mesenchymal Stem Cells by Upregulation of Cyclin D1.
Autorzy:
Wolf B; Department of Surgery and Medicine, Medical University of South Carolina, Charleston, SC 29425, USA.
Muralidharan P; Department of Surgery and Medicine, Medical University of South Carolina, Charleston, SC 29425, USA.
Lee MY; Academic Magnet High School, North Charleston, SC 29405, USA.
Hua W; Department of Surgery and Medicine, Medical University of South Carolina, Charleston, SC 29425, USA.
Green E; Department of Surgery and Medicine, Medical University of South Carolina, Charleston, SC 29425, USA.
Wang H; Department of Surgery and Medicine, Medical University of South Carolina, Charleston, SC 29425, USA.; Ralph H. Johnson Veterans Affairs Medical Center, Medical University of South Carolina, Charleston, SC 29401, USA.
Strange C; Department of Medicine, Medical University of South Carolina, CSB 816, 96 Jonathan Lucas St., Charleston, SC 29425, USA.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2024 Feb 07; Vol. 25 (4). Date of Electronic Publication: 2024 Feb 07.
Typ publikacji:
Journal Article
MeSH Terms:
Cyclin D1*/genetics
Cyclin D1*/metabolism
Mesenchymal Stem Cells*/metabolism
alpha 1-Antitrypsin*/genetics
alpha 1-Antitrypsin*/metabolism
Animals ; Humans ; Mice ; Cell Proliferation/genetics ; Up-Regulation ; Wnt Signaling Pathway
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Lower serum alpha 1 antitrypsin levels in patients with severe COVID-19 compared with patients hospitalized due to non-COVID-19 pneumonia.
Autorzy:
Pertzov B; Pulmonary institute, Rabin Medical Center, Petach Tikva, Israel.; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Shapira G; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Edmond J Safra Center for Bioinformatics, Tel Aviv University, Tel Aviv, Israel.
Abushkara S; Pulmonary institute, Rabin Medical Center, Petach Tikva, Israel.
Cohen S; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Biochemistry and Pharmacology Laboratory, Rabin Medical Center, Petach Tikva, Israel.
Turjeman A; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Department of Medicine E, Rabin Medical Center, Petach Tikva, Israel.
Kramer MR; Pulmonary institute, Rabin Medical Center, Petach Tikva, Israel.; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Gurwitz D; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Shomron N; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Edmond J Safra Center for Bioinformatics, Tel Aviv University, Tel Aviv, Israel.
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Źródło:
Infectious diseases (London, England) [Infect Dis (Lond)] 2022 Dec; Vol. 54 (12), pp. 846-851. Date of Electronic Publication: 2022 Aug 17.
Typ publikacji:
Observational Study; Journal Article
MeSH Terms:
COVID-19*
alpha 1-Antitrypsin Deficiency*
Pneumonia*
Humans ; alpha 1-Antitrypsin ; SARS-CoV-2 ; Prospective Studies ; Serine Proteinase Inhibitors ; Serine Proteases
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A stacking ensemble machine learning model to predict alpha-1 antitrypsin deficiency-associated liver disease clinical outcomes based on UK Biobank data.
Autorzy:
Meng L; Florida State University, Tallahassee, USA.
Treem W; Takeda Development Center Americas, Inc., Cambridge, MA, USA.
Heap GA; Takeda Development Center Americas, Inc., Cambridge, MA, USA.
Chen J; Takeda Development Center Americas, Inc., Cambridge, MA, USA. .
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Źródło:
Scientific reports [Sci Rep] 2022 Oct 11; Vol. 12 (1), pp. 17001. Date of Electronic Publication: 2022 Oct 11.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Biological Specimen Banks*
alpha 1-Antitrypsin Deficiency*/complications
alpha 1-Antitrypsin Deficiency*/genetics
Humans ; Machine Learning ; United Kingdom/epidemiology ; alpha 1-Antitrypsin/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Loss of Serpina1 in Mice Leads to Altered Gene Expression in Inflammatory and Metabolic Pathways.
Autorzy:
Meghadri SH; Department of Respiratory Medicine, Platform Bioinformatics, Member of the German Center for Lung Research (DZL), Biomedical Research in Endstage and Obstructive Lung Disease (BREATH), Hannover Medical School, 30625 Hannover, Germany.
Martinez-Delgado B; Functional Genomics Unit, Rare Diseases Research Institute, Carlos III Health Institute, 28220 Majadahonda, Spain.
Ostermann L; Division of Experimental Pneumology, Member of the German Center for Lung Research (DZL), Biomedical Research in Endstage and Obstructive Lung Disease (BREATH), Hannover Medical School, 30625 Hannover, Germany.
Gomez-Mariano G; Functional Genomics Unit, Rare Diseases Research Institute, Carlos III Health Institute, 28220 Majadahonda, Spain.
Perez-Luz S; Functional Genomics Unit, Rare Diseases Research Institute, Carlos III Health Institute, 28220 Majadahonda, Spain.
Tumpara S; Department of Respiratory Medicine, Molecular Pneumology, Member of German Center for Lung Research (DZL), Biomedical Research School in Endstage and Obstructive Lung Disease (BREATH), Hannover Medical School, 30625 Hannover, Germany.
Wrenger S; Department of Respiratory Medicine, Molecular Pneumology, Member of German Center for Lung Research (DZL), Biomedical Research School in Endstage and Obstructive Lung Disease (BREATH), Hannover Medical School, 30625 Hannover, Germany.
DeLuca DS; Department of Respiratory Medicine, Platform Bioinformatics, Member of the German Center for Lung Research (DZL), Biomedical Research in Endstage and Obstructive Lung Disease (BREATH), Hannover Medical School, 30625 Hannover, Germany.
Maus UA; Division of Experimental Pneumology, Member of the German Center for Lung Research (DZL), Biomedical Research in Endstage and Obstructive Lung Disease (BREATH), Hannover Medical School, 30625 Hannover, Germany.
Welte T; Department of Respiratory Medicine, Molecular Pneumology, Member of German Center for Lung Research (DZL), Biomedical Research School in Endstage and Obstructive Lung Disease (BREATH), Hannover Medical School, 30625 Hannover, Germany.
Janciauskiene S; Department of Respiratory Medicine, Molecular Pneumology, Member of German Center for Lung Research (DZL), Biomedical Research School in Endstage and Obstructive Lung Disease (BREATH), Hannover Medical School, 30625 Hannover, Germany.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2022 Sep 09; Vol. 23 (18). Date of Electronic Publication: 2022 Sep 09.
Typ publikacji:
Journal Article
MeSH Terms:
alpha 1-Antitrypsin Deficiency*/genetics
alpha 1-Antitrypsin/*metabolism
Animals ; Cholesterol ; Gene Expression ; Humans ; Metabolic Networks and Pathways ; Mice ; Mice, Inbred C57BL ; RNA, Small Interfering/metabolism ; Serine Proteinase Inhibitors ; alpha 1-Antitrypsin/genetics
Czasopismo naukowe
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Tytuł:
Cigarette smoke exposed airway epithelial cell-derived EVs promote pro-inflammatory macrophage activation in alpha-1 antitrypsin deficiency.
Autorzy:
Khodayari N; Division of Pulmonary, Critical Care, and Sleep Medicine, College of Medicine, University of Florida, 1600 SW Archer Rd Rm M453A, Gainesville, FL, 32610, USA. .
Oshins R; Division of Pulmonary, Critical Care, and Sleep Medicine, College of Medicine, University of Florida, 1600 SW Archer Rd Rm M453A, Gainesville, FL, 32610, USA.
Mehrad B; Division of Pulmonary, Critical Care, and Sleep Medicine, College of Medicine, University of Florida, 1600 SW Archer Rd Rm M453A, Gainesville, FL, 32610, USA.
Lascano JE; Division of Pulmonary, Critical Care, and Sleep Medicine, College of Medicine, University of Florida, 1600 SW Archer Rd Rm M453A, Gainesville, FL, 32610, USA.
Qiang X; MilliporeSigma, Burlington, MO, USA.
West JR; Division of Pulmonary, Critical Care, and Sleep Medicine, College of Medicine, University of Florida, 1600 SW Archer Rd Rm M453A, Gainesville, FL, 32610, USA.
Holliday LS; Department of Orthodontics, College of Dentistry, University of Florida, Gainesville, FL, USA.
Lee J; Division of Pulmonary, Critical Care, and Sleep Medicine, College of Medicine, University of Florida, 1600 SW Archer Rd Rm M453A, Gainesville, FL, 32610, USA.
Wiesemann G; College of Medicine, University of Florida, Gainesville, FL, USA.
Eydgahi S; Division of Pulmonary, Critical Care, and Sleep Medicine, College of Medicine, University of Florida, 1600 SW Archer Rd Rm M453A, Gainesville, FL, 32610, USA.
Brantly M; Division of Pulmonary, Critical Care, and Sleep Medicine, College of Medicine, University of Florida, 1600 SW Archer Rd Rm M453A, Gainesville, FL, 32610, USA.
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Źródło:
Respiratory research [Respir Res] 2022 Sep 06; Vol. 23 (1), pp. 232. Date of Electronic Publication: 2022 Sep 06.
Typ publikacji:
Journal Article
MeSH Terms:
Cigarette Smoking*/adverse effects
Extracellular Vesicles*/metabolism
Pneumonia*/metabolism
Pulmonary Disease, Chronic Obstructive*/metabolism
alpha 1-Antitrypsin Deficiency*/genetics
Cytokines/metabolism ; Epithelial Cells/metabolism ; Leukocytes, Mononuclear/metabolism ; Macrophage Activation ; Nicotiana ; alpha 1-Antitrypsin/genetics ; alpha 1-Antitrypsin/metabolism
Czasopismo naukowe
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Tytuł:
Improving the Laboratory Diagnosis of M-like Variants Related to Alpha1-Antitrypsin Deficiency.
Autorzy:
Barzon V; Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, Department of Internal Medicine and Therapeutics, University of Pavia, 27100 Pavia, Italy.
Ottaviani S; Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, Laboratory of Biochemistry and Genetics, Pulmonology Unit, Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Italy.
Balderacchi AM; Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, Laboratory of Biochemistry and Genetics, Pulmonology Unit, Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Italy.
Corino A; Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, Laboratory of Biochemistry and Genetics, Pulmonology Unit, Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Italy.
Piloni D; Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, Laboratory of Biochemistry and Genetics, Pulmonology Unit, Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Italy.
Accordino G; Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, Laboratory of Biochemistry and Genetics, Pulmonology Unit, Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Italy.
Coretti M; Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, Laboratory of Biochemistry and Genetics, Pulmonology Unit, Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Italy.
Mariani F; Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, Laboratory of Biochemistry and Genetics, Pulmonology Unit, Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Italy.
Corsico AG; Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, Department of Internal Medicine and Therapeutics, University of Pavia, 27100 Pavia, Italy.; Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, Laboratory of Biochemistry and Genetics, Pulmonology Unit, Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Italy.
Ferrarotti I; Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, Laboratory of Biochemistry and Genetics, Pulmonology Unit, Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Italy.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2022 Aug 30; Vol. 23 (17). Date of Electronic Publication: 2022 Aug 30.
Typ publikacji:
Journal Article
MeSH Terms:
alpha 1-Antitrypsin Deficiency*/diagnosis
alpha 1-Antitrypsin Deficiency*/genetics
Alleles ; Clinical Laboratory Techniques ; Genotype ; Humans ; Phenotype ; Retrospective Studies ; alpha 1-Antitrypsin/genetics
Czasopismo naukowe
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Tytuł:
Correlation of alpha-1 antitrypsin levels and exosome associated neutrophil elastase endothelial injury in subjects with SARS-CoV2 infection.
Autorzy:
Lascano J; Division of Pulmonary, Critical Care, and Sleep Medicine, University of Florida, Gainesville, United States of America.
Oshins R; Division of Pulmonary, Critical Care, and Sleep Medicine, University of Florida, Gainesville, United States of America.
Eagan C; Division of Pulmonary, Critical Care, and Sleep Medicine, University of Florida, Gainesville, United States of America.
Wadood Z; Division of Pulmonary, Critical Care, and Sleep Medicine, University of Florida, Gainesville, United States of America.
Qiang X; MilliporeSigma, R and D Department, Burlington, MO, United States of America.
Flagg T; Division of Pulmonary, Critical Care, and Sleep Medicine, University of Florida, Gainesville, United States of America.
Scindia Y; Division of Pulmonary, Critical Care, and Sleep Medicine, University of Florida, Gainesville, United States of America.
Mehrad B; Division of Pulmonary, Critical Care, and Sleep Medicine, University of Florida, Gainesville, United States of America.
Brantly M; Division of Pulmonary, Critical Care, and Sleep Medicine, University of Florida, Gainesville, United States of America.
Khodayari N; Division of Pulmonary, Critical Care, and Sleep Medicine, University of Florida, Gainesville, United States of America.
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Źródło:
PloS one [PLoS One] 2022 Sep 09; Vol. 17 (9), pp. e0274427. Date of Electronic Publication: 2022 Sep 09 (Print Publication: 2022).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
COVID-19*
Exosomes*/metabolism
alpha 1-Antitrypsin Deficiency*
Endothelial Cells/metabolism ; Humans ; Leukocyte Elastase/metabolism ; RNA, Viral ; SARS-CoV-2 ; alpha 1-Antitrypsin/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Feasibility of a genotyping system for the diagnosis of alpha1 antitrypsin deficiency: a multinational cross-sectional analysis.
Autorzy:
Lopez-Campos JL; Unidad Médico-Quirúrgica de Enfermedades Respiratorias, Instituto de Biomedicina de Sevilla (IBiS), Hospital Universitario Virgen del Rocío, Universidad de Sevilla, Avda. Manuel Siurot, s/n, 41013, Seville, Spain. .; CIBER de Enfermedades Respiratorias (CIBERES), Instituto de Salud Carlos III, Madrid, Spain. .
Osaba L; Progenika Biopharma, a Grifols Company, Derio, Vizcaya, Spain.
Czischke K; Departamento de Neumología, Clínica Alemana de Santiago, Universidad del Desarrollo, Santiago, Chile.
Jardim JR; Centro de Reabilitação Pulmonar da Escola Paulista de Medicina da Universidade Federal de São Paulo (EPM/Unifesp), São Paulo, Brazil.
Fernandez Acquier M; Servicio de Neumonología, Hospital Cetrángolo, Vicente López, Buenos Aires, Argentina.
Ali A; Departamento Médico, Fundación Neumológica Colombiana, Bogotá, D.C., Colombia.
Günen H; Süreyyapaşa Research and Training Center for Chest Diseases and Thoracic Surgery, University of Health Sciences, Istanbul, Turkey.
Rapun N; Progenika Biopharma, a Grifols Company, Derio, Vizcaya, Spain.
Drobnic E; Scientific and Medical Affairs, Grifols, Barcelona, Spain.
Miravitlles M; CIBER de Enfermedades Respiratorias (CIBERES), Instituto de Salud Carlos III, Madrid, Spain.; Servicio de Neumología, Hospital Universitari Vall d'Hebron, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.
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Źródło:
Respiratory research [Respir Res] 2022 Jun 10; Vol. 23 (1), pp. 152. Date of Electronic Publication: 2022 Jun 10.
Typ publikacji:
Journal Article; Observational Study
MeSH Terms:
Pulmonary Disease, Chronic Obstructive*/diagnosis
alpha 1-Antitrypsin Deficiency*/diagnosis
alpha 1-Antitrypsin Deficiency*/epidemiology
alpha 1-Antitrypsin Deficiency*/genetics
Alleles ; Cross-Sectional Studies ; Feasibility Studies ; Genotype ; Humans ; alpha 1-Antitrypsin/genetics
Czasopismo naukowe
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Tytuł:
Is the determination of C-reactive protein really necessary in the diagnosis of Alpha-1 antitrypsin deficiency?
Autorzy:
Hernández-Pérez JM; Department of Neumology, Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Spain.
López-Charry CV; Department of Neumology, Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Spain.
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Źródło:
The clinical respiratory journal [Clin Respir J] 2022 May; Vol. 16 (5), pp. 420-422. Date of Electronic Publication: 2022 May 17.
Typ publikacji:
Letter
MeSH Terms:
C-Reactive Protein*
alpha 1-Antitrypsin Deficiency*/diagnosis
alpha 1-Antitrypsin Deficiency*/genetics
Humans ; Phenotype ; alpha 1-Antitrypsin
Opinia redakcyjna
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Tytuł:
Alpha-1-antitrypsin-deficiency is associated with lower cardiovascular risk: an approach based on federated learning.
Autorzy:
Zöller D; Institute of Medical Biometry and Statistics, Faculty of Medicine and Medical Centre - University of Freiburg, Freiburg, Germany. .; Freiburg Centre for Data Analysis and Modelling, University of Freiburg, Freiburg, Germany. .
Haverkamp C; Institute of Digitalization in Medicine, Faculty of Medicine and Medical Centre - University of Freiburg, Freiburg, Germany.
Makoudjou A; Institute of Medical Biometry and Statistics, Faculty of Medicine and Medical Centre - University of Freiburg, Freiburg, Germany.; Freiburg Centre for Data Analysis and Modelling, University of Freiburg, Freiburg, Germany.
Sofack G; Institute of Medical Biometry and Statistics, Faculty of Medicine and Medical Centre - University of Freiburg, Freiburg, Germany.; Freiburg Centre for Data Analysis and Modelling, University of Freiburg, Freiburg, Germany.
Kiefer S; Institute of Medical Biometry and Statistics, Faculty of Medicine and Medical Centre - University of Freiburg, Freiburg, Germany.; Freiburg Centre for Data Analysis and Modelling, University of Freiburg, Freiburg, Germany.
Gebele D; Institute of Medical Biometry and Statistics, Faculty of Medicine and Medical Centre - University of Freiburg, Freiburg, Germany.; Freiburg Centre for Data Analysis and Modelling, University of Freiburg, Freiburg, Germany.
Pfaffenlehner M; Institute of Medical Biometry and Statistics, Faculty of Medicine and Medical Centre - University of Freiburg, Freiburg, Germany.; Freiburg Centre for Data Analysis and Modelling, University of Freiburg, Freiburg, Germany.
Boeker M; Institute of Artificial Intelligence and Informatics in Medicine, Medical Centre Rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.
Binder H; Institute of Medical Biometry and Statistics, Faculty of Medicine and Medical Centre - University of Freiburg, Freiburg, Germany.; Freiburg Centre for Data Analysis and Modelling, University of Freiburg, Freiburg, Germany.
Karki K; Data Integration Centre, Medical Faculty, Philipps-University Marburg, Marburg, Germany.
Seidemann C; Data Integration Centre, Medical Faculty, Philipps-University Marburg, Marburg, Germany.
Schmeck B; Institute for Lung Research, Universities of Giessen and Marburg Lung Centre, Philipps-University Marburg, Marburg, Germany.; Department of Medicine, Pulmonary and Critical Care Medicine, University Hospital Giessen and Marburg, Philipps-University Marburg, Marburg, Germany.; German Centres for Lung Research (DZL) and for Infectious Disease Research (DZIF), SYNMIKRO Centre for Synthetic Microbiology, Philipps-University Marburg, Marburg, Germany.
Greulich T; Department of Medicine, Pulmonary and Critical Care Medicine, University Hospital Giessen and Marburg, Philipps-University Marburg, Marburg, Germany.; German Centres for Lung Research (DZL) and for Infectious Disease Research (DZIF), SYNMIKRO Centre for Synthetic Microbiology, Philipps-University Marburg, Marburg, Germany.
Renz H; Institute of Laboratory Medicine, German Centre for Lung Research (DZL) and the Universities of Giessen and Marburg Lung Centre (UGMLC), Philipps-University Marburg, Marburg, Germany.
Schild S; Medical Centre for Information and Communication Technology, University Hospital Erlangen, Erlangen, Germany.
Seuchter SA; Medical Centre for Information and Communication Technology, University Hospital Erlangen, Erlangen, Germany.
Tibyampansha D; Institute of Medical Biostatistics, Epidemiology and Informatics, University Medical Centre of the Johannes Gutenberg-University Mainz, Mainz, Germany.
Buhl R; Pulmonary Department, University Medical Centre of the Johannes Gutenberg-University Mainz, Mainz, Germany.
Rohde G; Department of Respiratory Medicine, Medical Clinic I, Goethe University Frankfurt, University Hospital, Frankfurt/Main, Germany.
Trudzinski FC; Department of Pneumology and Critical Care Medicine, German Centre for Lung Research (DZL), Translational Lung Research Centre Heidelberg (TLRC-H), University of Heidelberg, Thoraxklinik, Heidelberg, Germany.
Bals R; Department of Internal Medicine V - Pulmonology, Allergology, Critical Care Medicine, Saarland University Medical Centre, Saarland University Hospital, 66421, Homburg/Saar, Germany.
Janciauskiene S; Department of Pulmonary and Infectious Diseases and BREATH German Centre for Lung Research (DZL), Hannover Medical School, Hannover, Germany.
Stolz D; Department of Pneumology, University Medical Centre Freiburg, Freiburg, Germany.
Fähndrich S; Department of Pneumology, University Medical Centre Freiburg, Freiburg, Germany.
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Źródło:
Respiratory research [Respir Res] 2024 Jan 18; Vol. 25 (1), pp. 38. Date of Electronic Publication: 2024 Jan 18.
Typ publikacji:
Journal Article
MeSH Terms:
alpha 1-Antitrypsin Deficiency*/diagnosis
alpha 1-Antitrypsin Deficiency*/epidemiology
alpha 1-Antitrypsin Deficiency*/genetics
Cardiovascular Diseases*/diagnosis
Cardiovascular Diseases*/epidemiology
Cardiovascular Diseases*/genetics
Pulmonary Disease, Chronic Obstructive*/diagnosis
Pulmonary Disease, Chronic Obstructive*/epidemiology
Pulmonary Disease, Chronic Obstructive*/etiology
Humans ; Heart Disease Risk Factors ; Risk Factors ; Troponin
Czasopismo naukowe
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