Results 131 to 140 of about 3,774 (171)

Convergent evolution of somatic escape variants inSERPINA1in the liver in alpha-1 anti-trypsin deficiency

Brzozowska N, Wu LY, Khodzhaeva V, Griffiths WJ, Duckworth A, Jung H, Coorens THH, Hooks Y, Chambers JE, Campbell PJ, Marciniak SJ, Hoare M.   +11 more
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Alpha-1-Antitrypsin (A1AT) Proteotyping by LC-MS/MS.

Methods in molecular biology, 2023
The diagnosis of alpha-1-antitrypsin (A1AT) deficiency is established by quantitation of protein concentration in serum (immunoassay) followed by determination of specific allelic variants by phenotyping (isoelectric focusing (IEF) gel electrophoresis) and/or allele-specific genotyping.
J. Kemp, P. Ladwig, Melissa R. Snyder
semanticscholar   +3 more sources

Identification of citrullinated α1-antitrypsin (A1AT) in saliva in a mouse model of rheumatoid arthritis.

Journal of Oral Biosciences
Rheumatoid arthritis (RA) is an autoimmune disease characterized by progressive joint destruction. Early diagnosis and treatment, before joint deformation or destruction occurs, are crucial. Identifying novel biomarkers for RA in saliva could potentially enable early detection of the disease, prior to its onset.We conducted a comprehensive proteomic ...
W. Sakaguchi, J. Saruta, Yuko Yamamoto, Tomoko Shimizu, S. Fuchida, K. Tsukinoki   +5 more
semanticscholar   +3 more sources

Does hypersialylation compensate the functional Alpha1-AntiTrypsin (A1AT) deficiency in all critically ill patients?

Biochimie
Alpha-1 antitrypsin (A1AT) is the major circulating serine protease inhibitor. Hypersialylated glycoforms (HSG) are produced to boost A1AT anti-inflammatory and anti-protease properties. Their occurrence and prognostic impact outside severe COVID-19 or community-acquired pneumonia are unknown.
Malika Balduyck, Sarah Afif, Brigitte Onraed, Mercedes Jourdain, Saad Nseir, Pascal Pigny, Farid Zerimech, Dominique Deplanque, Karine Faure, Guillaume Lefèvre, K. Alidjinou, Régis Bordet, Ilka Engelmann, Delphine Garrigue, A. Goffard, Eric Kipnis, Myriam Labalette, Marc Lambert, David Launay, Daniel Mathieu, C. Maurage, J. Poissy, Martine Remy, Boualem Sendid, Sophie Susen, Maxime Caillier, Laurent Schwarb Laurent, M. Hisbergues   +27 more
semanticscholar   +3 more sources

Rare A1AT variants in Polish patients with chronic respiratory disorders – Data from 2013 to 2016

3.1 Molecular Pathology and Functional Genomics, 2016
SERPINA1 gene encoding the alpha-1 antitrypsin (A1AT) protein is highly polymorphic. Apart from the most prevalent PI*S and PI*Z deficiency alleles, other so-called rare variants also predispose individuals to severe chronic respiratory disorders (CRDs).
K. Duk, A. Zdral, Radosław Struniawski, B. Szumna, A. Róży, J. Chorostowska-Wynimko   +5 more
semanticscholar   +2 more sources

Development of a next generation sequencing assay for detection of A1AT deficiency

Molecular pathology and functional genomics, 2023
Susana Catarino, Lorena Alonso, Monika Landeta, Ana Vivanco, Marta Artieda, Amaia Larruskain, Mónica López   +6 more
semanticscholar   +2 more sources

A1AT-Mangel: Substitution senkt Mortalität

MMW - Fortschritte der Medizin
Martin Storr
semanticscholar   +2 more sources

Survival in Alpha-1 Antitrypsin (A1AT) Deficient Lung Transplant Recipients by Use of A1AT Augmentation Therapy

The Journal of Heart and Lung Transplantation
A. Oak, J. Ruck, A. Casillan, R. Riojas, P. Shah, J. Ha, S. Strout, A. Massie, D. Segev, C. Merlo, E. Bush   +10 more
semanticscholar   +2 more sources

Development of an Inhalation LNP Therapy for the Treatment of Lung Disease in A1AT-Deficiency Disorder, Utilizing an A1AT KO Ferret Model

American Journal of Respiratory and Critical Care Medicine
J. Chen, P. Sahni, S. Fakhari, M. Shilotri, T.-L. Hsu, C. Ceballos-Diaz, B. Tejera-Hernandez, H. Meng, W. Hartono, S. Katikaneni, S. Mohapatra, J. Cefalu, R. Tran, S. Sherman, D. Bartels, M.M. Kim, D. Lockhart, J. Couch, M. Weinberg   +18 more
semanticscholar   +2 more sources

The link of the A1AT - ER stress - serine peptidase HTRA1 axis modulates invasion by extravillous trophoblasts.

Placenta, 2021
Kanoko Yoshida, K. Kusama, Kiyoko Kato, Mana Azumi, M. Yoshie, K. Tamura   +5 more
semanticscholar   +2 more sources