Results 21 to 30 of about 107,093 (255)

Known Mutations at the Cause of Alpha-1 Antitrypsin Deficiency an Updated Overview of SERPINA1 Variation Spectrum

The Application of Clinical Genetics, 2021
Alpha-1-Antitrypsin deficiency (AATD), caused by SERPINA1 mutations, is one of the most prevalent Mendelian disorders among individuals of European descend.
S. Seixas, P. Marques
semanticscholar   +1 more source

The prevalence of bronchiectasis in patients with alpha-1 antitrypsin deficiency: initial report of EARCO

Orphanet Journal of Rare Diseases, 2023
Background Although bronchiectasis has been recognised as a feature of some patients with Alpha1-Antitrypsin deficiency the prevalence and characteristics are not widely known.
R. Stockley, A. Pye, J. De Soyza, A. Turner, M. Miravitlles, María Hanan Carlota José Luis Jan Catarina Juan Luis Ang Torres-Duran Tanash Rodríguez-García López-Campos , M. Torres-Durán, H. Tanash, Carlota Rodríguez-García, J. López-Campos, J. Chlumsky, Catarina Guimarães, J. Rodríguez-Hermosa, A. Corsico, C. Martínez‐González, J. M. Hernández-Pérez, A. Bustamante, D. Parr, F. Casas-Maldonado, A. Hećimović, W. Janssens, B. Lara, M. Barrecheguren, Cruz González, J. Stolk, Christian F. Clarenbach   +25 more
semanticscholar   +1 more source

Evaluation of Cytosine Base Editing and Adenine Base Editing as a Potential Treatment for Alpha-1 Antitrypsin Deficiency.

Molecular Therapy, 2022
Alpha-1 Antitrypsin Deficiency (AATD) is a rare autosomal codominant disease caused by mutations within the SERPINA1 gene. The most prevalent variant in patients is PiZ SERPINA1 containing a single G>A transition mutation.
M. Packer, Vivek K. Chowdhary, G. Lung, Lo-I Cheng, Yvonne Aratyn-Schaus, D. Leboeuf, Sarah Smith, Aalok Shah, Delai Chen, Marina Zieger, B. Cafferty, Bo-Wen Yan, G. Ciaramella, Francine M. Gregoire, C. Mueller   +14 more
semanticscholar   +1 more source

Hepatobiliary phenotypes of adults with alpha-1 antitrypsin deficiency

Gut, 2021
Objective Alpha-1 antitrypsin deficiency (AATD) is a common, potentially lethal inborn disorder caused by mutations in alpha-1 antitrypsin (AAT).
M. Fromme, C. Schneider, V. Pereira, K. Hamesch, M. Pons, M. Reichert, F. Benini, P. Ellis, Katrine H Thorhauge, M. Mandorfer, B. Burbaum, V. Woditsch, J. Chorostowska-Wynimko, J. Verbeek, F. Nevens, J. Genescà, M. Miravitlles, Alexa Núñez, B. Schaefer, H. Zoller, S. Janciauskiene, N. Abreu, L. Jasmins, R. Gaspar, R. Liberal, G. Macedo, Ravi Mahadeva, C. Gomes, K. Schneider, M. Trauner, A. Krag, B. Gooptu, D. Thorburn, A. Marshall, J. Hurst, D. Lomas, F. Lammert, N. Gaisa, V. Clark, W. Griffiths, C. Trautwein, A. Turner, N. McElvaney, P. Strnad   +43 more
semanticscholar   +1 more source

Unique and shared systemic biomarkers for emphysema in Alpha-1 Antitrypsin deficiency and chronic obstructive pulmonary disease

EBioMedicine, 2022
Summary Background Alpha-1 Antitrypsin (AAT) deficiency (AATD), the most common genetic cause of emphysema presents with unexplained phenotypic heterogeneity in affected subjects.
K. Serban, K. Pratte, C. Strange, R. Sandhaus, A. M. Turner, T. Beiko, D. Spittle, L. Maier, N. Hamzeh, E. Silverman, B. Hobbs, C. Hersh, D. Demeo, M. Cho, R. Bowler   +14 more
semanticscholar   +1 more source

Ferret models of alpha-1 antitrypsin deficiency develop lung and liver disease

JCI Insight, 2022
Alpha-1 antitrypsin deficiency (AATD) is the most common genetic cause and risk factor for chronic obstructive pulmonary disease, but the field lacks a large-animal model that allows for longitudinal assessment of pulmonary function. We hypothesized that
N. He, Xiaoming Liu, Amber R. Vegter, T. Evans, Jaimie S. Gray, Junfeng Guo, S. Moll, Lydia J. Guo, M. Luo, Ningxia Ma, Xingshen Sun, B. Liang, Ziying Yan, Zehua Feng, Lisi Qi, A. Joshi, W. Shahin, Y. Yi, K. Gibson-Corley, E. Hoffman, Kai Wang, C. Mueller, J. Engelhardt, B. H. Rosen   +23 more
semanticscholar   +1 more source

Clarifying the relationship between pulmonary langerhans cell histiocytosis and Alpha 1 antitrypsin deficiency

Orphanet Journal of Rare Diseases, 2021
Pulmonary Langerhans cell histiocytosis (PLCH) is a rare, smoking related, progressive diffuse cystic lung disease that occurs primarily in smokers. The aim of this study was to determine if there was an increase in alpha-1 antitrypsin deficient alleles ...
Cormac McCarthy, Emmanuelle Bugnet, Amira Benattia, Michael P. Keane, Benoit Vedie, Gwenaël Lorillon, Abdellatif Tazi   +6 more
doaj   +1 more source

Alpha-1 Antitrypsin Deficiency: Home Therapy

Frontiers in Pharmacology, 2021
While available in only a few countries, home therapy is a possible strategy for the treatment of alpha-1 antitrypsin deficiency. We want to describe our experience in the management of human alpha-1 antitrypsin using home care intravenous augmentation ...
Anna Annunziata, Maurizia Lanza, Antonietta Coppola, Paolo Andreozzi, Sara Spinelli, Giuseppe Fiorentino   +5 more
doaj   +1 more source

Alpha-1 Antitrypsin Deficiency Associated Panniculitis.

Journal of American Academy of Dermatology, 2021
BACKGROUND Panniculitis represents a rare and potentially lethal manifestation of alpha-1 antitrypsin deficiency (AATD). Evidence regarding management is limited to case reports and small case series.
A. Franciosi, J. Ralph, N. O'Farrell, C. Buckley, C. Gulmann, M. O’Kane, T. Carroll, N. McElvaney   +7 more
semanticscholar   +1 more source

COVID-19 infection in severe Alpha 1-antitrypsin deficiency: Looking for a rationale

Respiratory Medicine, 2021
The clinical manifestations of COVID-19 are heterogeneous: 46.4% of patients admitted into hospital reported to have at least one comorbidity. Comorbidities such as COPD, diabetes, hypertension and malignancy predispose patients with Covid-19 to adverse ...
S. Ottaviani, I. Ferrarotti, A. Balderacchi, V. Barzon, A. Corino, A. De Silvestri, D. Piloni, Francesca Mariani, A. Corsico   +8 more
semanticscholar   +1 more source