Results 11 to 20 of about 480,558 (290)

Alpha-1 antitrypsin deficiency [PDF]

Respiratory Medicine CME, 2010
To review the topic of alpha-1 antitrypsin (AAT) deficiency.Narrative literature review.Much work has been carried out on this condition with many questions being answered but still further questions remain.AAT deficiency is an autosomal co-dominantly inherited disease which affects the lungs and liver predominantly.
Kelly, Emer, Greene, Catherine M, Carroll, Tomas P, McElvaney, Noel G, O'Neill, Shane J   +4 more
openaire   +5 more sources

A Review of Alpha-1 Antitrypsin Binding Partners for Immune Regulation and Potential Therapeutic Application

International Journal of Molecular Sciences, 2022
Alpha-1 antitrypsin (AAT) is the canonical serine protease inhibitor of neutrophil-derived proteases and can modulate innate immune mechanisms through its anti-inflammatory activities mediated by a broad spectrum of protein, cytokine, and cell surface ...
M. E. O'Brien, Grace Murray, D. Gogoi, Azeez Yusuf, C. McCarthy, M. Wormald, M. Casey, C. Gabillard-Lefort, N. McElvaney, E. Reeves   +9 more
semanticscholar   +1 more source

Expert Perspectives on the Management of Alpha 1-Antitrypsin Deficiency

Acta Médica Portuguesa, 2022
Alpha 1-antitrypsin deficiency is an inherited autosomal codominant disorder, which predisposes patients to lung and/or liver disease. Even though it is considered rare, it is one of the most frequent genetic disorders worldwide, albeit remaining ...
Bebiana Conde, Filipa Costa, Joana Gomes, António Paulo Lopes, Maria Alexandra Mineiro, Orlando Rodrigues, Cristina Santos, Luísa Semedo, Maria Sucena, Catarina Guimarães   +9 more
doaj   +1 more source

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

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

Alpha-1 antitrypsin inhibits TMPRSS2 protease activity and SARS-CoV-2 infection

Nature Communications, 2021
SARS-CoV-2 is a respiratory pathogen and primarily infects the airway epithelium. As our knowledge about innate immune factors of the respiratory tract against SARS-CoV-2 is limited, we generated and screened a peptide/protein library derived from ...
Lukas Wettstein, Tatjana Weil, Carina Conzelmann, Janis A. Müller, R. Gross, M. Hirschenberger, Alina Seidel, S. Klute, F. Zech, Caterina Prelli Bozzo, Nico Preising, G. Fois, R. Lochbaum, P. Knaff, V. Mailänder, L. Ständker, D. Thal, C. Schumann, S. Stenger, A. Kleger, G. Lochnit, B. Mayer, Yasser B. Ruiz-Blanco, M. Hoffmann, K. Sparrer, S. Pöhlmann, Elsa Sánchez-García, F. Kirchhoff, M. Frick, J. Münch   +29 more
semanticscholar   +1 more source

Association of alpha-1 antitrypsin level and lung function in patients with chronic obstructive pulmonary disease [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2017
Introduction/Objective. Alpha-1 antitrypsin deficiency is a well established inherited risk factor for chronic obstructive pulmonary disease (COPD); however, alpha-1 antitrypsin level may result in different lung function reduction.
Serapinas Danielius, Nutautiene Ruta, Pukinskaite Ruta, Bartkeviciene Daiva, Barkauskiene Diana, Sakalauskas Raimundas   +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

The impact of diagnostic delay on survival in alpha-1-antitrypsin deficiency: results from the Austrian Alpha-1 Lung Registry

Respiratory Research, 2023
Background Alpha-1-antitrypsin (AAT) deficiency (AATD) is a genetic disorder that can manifest as lung disease. A delay between onset of symptoms and diagnosis of AATD is common and associated with worse clinical status and more advanced disease stage ...
Tobias Meischl, Karin Schmid-Scherzer, Florian Vafai-Tabrizi, Gert Wurzinger, Eva Traunmüller-Wurm, Kristina Kutics, Markus Rauter, Fikreta Grabcanovic-Musija, Simona Müller, Norbert Kaufmann, Judith Löffler-Ragg, Arschang Valipour, Georg-Christian Funk   +12 more
doaj   +1 more source