Comprehensive Clinical Diagnostic Pipelines Reveal New Variants in Alpha-1 Antitrypsin Deficiency.

Humans alpha 1-Antitrypsin Deficiency / diagnosis Genotype Mutation / genetics Pulmonary Emphysema Mutation, Missense / genetics
SERPINA1 rare variants alpha-1 antitrypsin polymers pathogenicity predictions serpinopathies serpins

Journal

American journal of respiratory cell and molecular biology
ISSN: 1535-4989
Titre abrégé: Am J Respir Cell Mol Biol
Pays: United States
ID NLM: 8917225

Informations de publication

Date de publication:
09 2023
Historique:
medline: 4 9 2023
pubmed: 18 4 2023
entrez: 18 04 2023
Statut: ppublish

Résumé

Alpha-1 antitrypsin deficiency (AATD) is an underdiagnosed disorder associated with mutations in the

Identifiants

DOI: 10.1165/rcmb.2022-0470OC PMID: 37071847
pubmed: 37071847
doi: 10.1165/rcmb.2022-0470OC
doi:

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

355-366

Auteurs

Stefania Ottaviani (S)

Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, Unità Operativa Complessa Pneumologia, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo, Pavia, Italy.
ORCID: 0000-0002-2039-230X

Giulia Bartoli (G)

Experimental Oncology and Immunology, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
ORCID: 0000-0001-8772-1852

Tomás P Carroll (TP)

α-1 Foundation Ireland, Irish Centre for Genetic Lung Disease, Royal College of Surgeons in Ireland Education and Research Centre, Beaumont Hospital, Dublin, Ireland.
ORCID: 0000-0002-0418-1641

Fabrizio Gangemi (F)

Experimental Oncology and Immunology, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
ORCID: 0000-0001-9389-651X

Alice M Balderacchi (AM)

Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, Unità Operativa Complessa Pneumologia, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo, Pavia, Italy.
ORCID: 0000-0003-0714-1087

Valentina Barzon (V)

Department of Internal Medicine and Therapeutics, Pulmonology Unit, University of Pavia, Pavia, Italy.
ORCID: 0000-0003-1582-6887

Alessandra Corino (A)

Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, Unità Operativa Complessa Pneumologia, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo, Pavia, Italy.

Davide Piloni (D)

Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, Unità Operativa Complessa Pneumologia, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo, Pavia, Italy.
ORCID: 0000-0002-7275-4229

Noel G McElvaney (NG)

α-1 Foundation Ireland, Irish Centre for Genetic Lung Disease, Royal College of Surgeons in Ireland Education and Research Centre, Beaumont Hospital, Dublin, Ireland.
ORCID: 0000-0002-0152-4370

Angelo G Corsico (AG)

Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, Unità Operativa Complessa Pneumologia, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo, Pavia, Italy.
Department of Internal Medicine and Therapeutics, Pulmonology Unit, University of Pavia, Pavia, Italy.
European Reference Network on Rare Respiratory Diseases (ERN-LUNG); and.
ORCID: 0000-0002-8716-4694

James A Irving (JA)

University College London Respiratory, Rayne Institute and the Institute of Structural and Molecular Biology, University College London, London, United Kingdom.
ORCID: 0000-0003-3204-6356

Annamaria Fra (A)

Experimental Oncology and Immunology, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
ORCID: 0000-0002-4327-3004

Ilaria Ferrarotti (I)

Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, Unità Operativa Complessa Pneumologia, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo, Pavia, Italy.
Department of Internal Medicine and Therapeutics, Pulmonology Unit, University of Pavia, Pavia, Italy.
European Reference Network on Rare Respiratory Diseases (ERN-LUNG); and.
ORCID: 0000-0003-4892-4192

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Comprehensive Clinical Diagnostic Pipelines...
questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Emphysème › Emphysème sous-cutané › Déficit en alpha-1-antitrypsine › Comprehensive Clinical Diagnostic Pipelines...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Comprehensive Clinical Diagnostic Pipelines...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Comprehensive Clinical Diagnostic Pipelines...
questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Caractéristiques de la maladie › Maladie chronique › Broncho-pneumopathie chronique obstructive › Emphysème pulmonaire › Comprehensive Clinical Diagnostic Pipelines...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation faux-sens › Comprehensive Clinical Diagnostic Pipelines...