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Select item 112528331.

Analysis of alpha‐1‐antitrypsin (AAT)‐regulated, glucocorticoid receptor‐dependent genes in macrophages reveals a novel host defense function of AAT

Xiyuan Bai, Junfeng Gao, Xiaoyu Guan, Drew E. Narum, Lorelenn B. Fornis, David E. Griffith, Bifeng Gao, Robert A. Sandhaus, Hua Huang, Edward D. Chan

Physiol Rep. 2024 Jul; 12(14): e16124. Published online 2024 Jul 17. doi: 10.14814/phy2.16124

PMCID:: PMC11252833

Abstract Article PDF–4.6M

Select item 111208702.

Heterozygous SERPINA1 Defects and Their Impact on Clinical Manifestations of Patients with Predominantly Antibody Deficiencies

Styliani Sarrou, Ioanna Voulgaridi, Athanasia Fousika, Katerina Dadouli, Olympia Margaritopoulou, Ioannis Kakkas, Christos Hadjichristodoulou, Fani Kalala, Matthaios Speletas

Int J Mol Sci. 2024 May; 25(10): 5382. Published online 2024 May 15. doi: 10.3390/ijms25105382

PMCID:: PMC11120870

Abstract Article PDF–246K

Select item 110085523.

Alpha1-antitrypsin impacts innate host–pathogen interactions with Candida albicans by stimulating fungal filamentation

Martin Jaeger, Axel Dietschmann, Sophie Austermeier, Sude Dinçer, Pauline Porschitz, Larsen Vornholz, Ralph J.A. Maas, Evelien G.G. Sprenkeler, Jürgen Ruland, Stefan Wirtz, Tania Azam, Leo A.B. Joosten, Bernhard Hube, Mihai G. Netea, Charles A. Dinarello, Mark S. Gresnigt

Virulence. 2024; 15(1): 2333367. Published online 2024 Mar 22. doi: 10.1080/21505594.2024.2333367

PMCID:: PMC11008552

Abstract Article PDF–8.1M

Select item 109846554.

Neonatal cholestasis in children with Alpha-1-AT deficiency is a risk for earlier severe liver disease with male predominance

Jeffrey Teckman, Philip Rosenthal, Rosalinda V. Ignacio, Cathie Spino, Lee M. Bass, Simon Horslen, Kasper Wang, John C. Magee, Saul Karpen, Akihiro Asai, Jean P. Molleston, Robert H. Squires, Binita M. Kamath, Stephen L. Guthery, Kathleen M. Loomes, Benjamin L. Shneider, Ronald J. Sokol

Hepatol Commun. 2023 Dec; 7(12): e0345. Published online 2023 Dec 7. doi: 10.1097/HC9.0000000000000345

PMCID:: PMC10984655

Abstract Article PDF–252K

Select item 109562545.

Cardiovascular disease in Alpha 1 antitrypsin deficiency: an observational study assessing the role of neutrophil proteinase activity and the suitability of validated screening tools

E. Sapey, L. E. Crowley, R. G. Edgar, D. Griffiths, S. Samanta, H. Crisford, C. E. Bolton, J. R. Hurst, R. A. Stockley

Orphanet J Rare Dis. 2024; 19: 130. Published online 2024 Mar 21. doi: 10.1186/s13023-024-03124-x

PMCID:: PMC10956254

Abstract Article PDF–1.4M

Select item 108855236.

Rare variants in alpha 1 antitrypsin deficiency: a systematic literature review

Ilaria Ferrarotti, Marion Wencker, Joanna Chorostowska-Wynimko

Orphanet J Rare Dis. 2024; 19: 82. Published online 2024 Feb 22. doi: 10.1186/s13023-024-03069-1

PMCID:: PMC10885523

Abstract Article PDF–3.0M

Select item 108708667.

Augmentation Therapy for Severe Alpha-1 Antitrypsin Deficiency Improves Survival and Is Decoupled from Spirometric Decline—A Multinational Registry Analysis

Daniel D. Fraughen, Auyon J. Ghosh, Brian D. Hobbs, Georg-Christian Funk, Tobias Meischl, Christian F. Clarenbach, Noriane A. Sievi, Karin Schmid-Scherzer, Oliver J. McElvaney, Mark P. Murphy, Adam D. Roche, Louise Clarke, Matthew Strand, Florian Vafai-Tabrizi, Geraldine Kelly, Cedric Gunaratnam, Tomás P. Carroll, Noel G. McElvaney

Am J Respir Crit Care Med. 2023 Nov 1; 208(9): 964–974. Published online 2023 Aug 25. doi: 10.1164/rccm.202305-0863OC

PMCID:: PMC10870866

Abstract Article PDF–1.2M

Select item 108499158.

Alpha-1 Antitrypsin Gene Variants in Patients without Severe Deficiency Diagnosed with Pulmonary Emphysema on Chest CT

Eduardo Laviña, Sara Lumbreras, Lara Bravo, Joan B Soriano, José Luis Izquierdo, Jose Miguel Rodríguez

Int J Chron Obstruct Pulmon Dis. 2024; 19: 353–361. Published online 2024 Feb 3. doi: 10.2147/COPD.S448593

PMCID:: PMC10849915

Abstract Article PDF–1.7M

Select item 107979859.

Alpha-1-antitrypsin-deficiency is associated with lower cardiovascular risk: an approach based on federated learning

Daniela Zöller, Christian Haverkamp, Adeline Makoudjou, Ghislain Sofack, Saskia Kiefer, Denis Gebele, Michelle Pfaffenlehner, Martin Boeker, Harald Binder, Kapil Karki, Christian Seidemann, Bernd Schmeck, Timm Greulich, Harald Renz, Stefanie Schild, Susanne A. Seuchter, Dativa Tibyampansha, Roland Buhl, Gernot Rohde, Franziska C. Trudzinski, Robert Bals, Sabina Janciauskiene, Daiana Stolz, Sebastian Fähndrich

Respir Res. 2024; 25: 38. Published online 2024 Jan 18. doi: 10.1186/s12931-023-02607-y

PMCID:: PMC10797985

Abstract Article PDF–1.4M

Select item 1076058610.

Initial alpha-1 antitrypsin screening in Turkish patients with chronic obstructive pulmonary disease

Seda Tural ÖNÜR

Turk J Med Sci. 2023; 53(4): 1012–1018. Published online 2023 Jun 4. doi: 10.55730/1300-0144.5665

PMCID:: PMC10760586

Abstract Article PDF–658K

Select item 1052497811.

Presence of Alpha 1 Antitrypsin risk variants is not associated with histologic severity of pediatric NAFLD

Maya Zahid Khan, Corie Klepper, Sarah Orkin, Ana Catalina Arce-Clachar, Kristen Bramlage, Lin Fei, Alexander Miethke, Rohit Kohli, Stavra Xanthakos, Marialena Mouzaki

J Pediatr Gastroenterol Nutr. Author manuscript; available in PMC 2024 Aug 1.

Published in final edited form as: J Pediatr Gastroenterol Nutr. 2023 Aug 1; 77(2): 166–170. Published online 2023 May 25. doi: 10.1097/MPG.0000000000003845

PMCID:: PMC10524978

Abstract Article PDF–74K

Select item 1042274712.

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

Robert A. Stockley, Anita Pye, Joshua De Soyza, Alice M. Turner, Marc Miravitlles, the EARCO study investigators

Orphanet J Rare Dis. 2023; 18: 243. Published online 2023 Aug 12. doi: 10.1186/s13023-023-02830-2

PMCID:: PMC10422747

Abstract Article PDF–765K

Select item 1038078013.

Serpin Family A Member 1 Is Prognostic and Involved in Immunological Regulation in Human Cancers

Xingwang Kuai, Jiaying Lv, Junyu Zhang, Manyu Xu, Juling Ji

Int J Mol Sci. 2023 Jul; 24(14): 11566. Published online 2023 Jul 17. doi: 10.3390/ijms241411566

PMCID:: PMC10380780

Abstract Article PDF–5.8M

Select item 1037328514.

Association of A1AT genetic polymorphism and NSCLC: a case- control study in Egyptian population

Aliaa N. El-Dawa, Afaf M. ElSaid, Sherif Refaat, Omali Y. El-khawaga

BMC Med Genomics. 2023; 16: 173. Published online 2023 Jul 27. doi: 10.1186/s12920-023-01608-6

PMCID:: PMC10373285

Abstract Article PDF–1.1M

Select item 1029772215.

Increased Prevalence of Alpha-1-Antitrypsin Deficiency in Patients with Biliary Tract Cancer and Its Associated Clinicopathological Features

Martin Cornillet, Helen Zemack, Hannes Jansson, Ernesto Sparrelid, Ewa Ellis, Niklas K. Björkström

Cells. 2023 Jun; 12(12): 1663. Published online 2023 Jun 19. doi: 10.3390/cells12121663

PMCID:: PMC10297722

Abstract Article PDF–2.3M

Select item 1024113316.

Distribution of alpha1 antitrypsin rare alleles in six countries: Results from the Progenika diagnostic network

José Luis Lopez-Campos, Noelia Rapun, Karen Czischke, José R. Jardim, Mariano Fernandez Acquier, Abraham Ali Munive, Hakan Günen, Estrella Drobnic, Marc Miravitlles, Lourdes Osaba

Hum Genomics. 2023; 17: 48. Published online 2023 Jun 5. doi: 10.1186/s40246-023-00497-1

PMCID:: PMC10241133

Abstract Article PDF–3.0M

Select item 1015800817.

Prevalence of genetic mutations in alpha-1 antitrypsin deficiency (aatd) in patients with chronic obstructive pulmonary disease in Colombia

Abraham Alí-Munive, Prada Leidy, Nadia Juliana Proaños, John Pedrozo-Pupo, Angela Giraldo, Diana Cano, Claudia Diaz-Bossa, Ricardo Mosquera, Hector Paul, Mauricio Gonzalez-García, Carlos Aguirre-Franco, José Luis López-Campos, Alejandro Casas-Herrera

BMC Pulm Med. 2023; 23: 156. Published online 2023 May 4. doi: 10.1186/s12890-023-02453-0

PMCID:: PMC10158008

Abstract Article PDF–898K

Select item 1008804618.

Normal Alpha-1-Antitrypsin Variants Display in Serum Allele-Specific Protein Levels

Shelley Jager, Dario A. T. Cramer, Albert J. R. Heck

J Proteome Res. 2023 Apr 7; 22(4): 1331–1338. Published online 2023 Mar 22. doi: 10.1021/acs.jproteome.2c00833

PMCID:: PMC10088046

Abstract Article PDF–3.5M

Select item 1001923219.

Optimal alpha-1 antitrypsin level cutoffs for genotype identification in patients with chronic liver disease

Sameer Prakash, Arvind R. Murali

Hepatol Commun. 2023 Feb; 7(2): e0023. Published online 2023 Jan 20. doi: 10.1097/HC9.0000000000000023

PMCID:: PMC10019232

Abstract Article PDF–166K

Select item 991646820.

Jan C. Kamp, Naomi N. Kappe, Carlos Fernández Moro, Jan Fuge, Mark P. Kuehnel, Sabine Wrenger, Tobias Welte, Bart van Hoek, Danny D. Jonigk, Padmini P. S. J. Khedoe, Pavel Strnad, Mikael Björnstedt, Jan Stolk, Sabina Janciauskiene, Antal Nemeth

Int J Mol Sci. 2023 Feb; 24(3): 2485. Published online 2023 Jan 27. doi: 10.3390/ijms24032485

PMCID:: PMC9916468

Abstract Article PDF–5.4M

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