Results 191 to 200 of about 11,907 (228)

Alpha-1 antitrypsin deficiency: genetics, clinical manifestations, AI prognostics, and advanced imaging in liver disease. [PDF]

Ann Med Surg (Lond)
Rajab I, Marin MP, Shubietah A, Khaled A, Bdair M, Abukhalil MM, Jallad H, Hussein A, Aldwaik SA, Salvatore MM.   +9 more
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Diverse-Ancestry GWAS of Age-Related Macular Degeneration on 16,108 Examined Cases and 18,038 Controls. [PDF]

Invest Ophthalmol Vis Sci
Gorski M, Grunin M, Herold JM, Fröhlich B, Behr M, Wheeler N, Bush WS, Song YE, Zhu X, Blanton SH, Pericak-Vance MA, Heid IM, Haines JL, International Age-Related Macular Degeneration Genomics Consortium.   +13 more
europepmc   +1 more source

Identification and characterisation of eight novel SERPINA1 null mutations.

, 2021
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Quantification of circulating alpha-1-antitrypsin polymers associated with different SERPINA1 genotypes

Clinical Chemistry and Laboratory Medicine (CCLM)
Objectives Alpha-1-antitrypsin deficiency is a genetic disorder caused by mutations in the SERPINA1 gene encoding alpha-1-antitrypsin (AAT), the major serine protease inhibitor in plasma. Reduced AAT levels are associated with elevated risk of developing
A. Balderacchi, Mattia Bignotti, S. Ottaviani, Andrea Denardo, V. Barzon, Emna Ben Khlifa, Guido Vailati, Davide Piloni, F. Benini, L. Corda, A. Corsico, I. Ferrarotti, A. Fra   +12 more
semanticscholar   +5 more sources

SERPINA1, generalized pustular psoriasis, and adult‐onset immunodeficiency

The Journal of Dermatology, 2021
AbstractAdult‐onset immunodeficiency syndrome (AOID) with anti‐interferon (IFN)‐γ autoantibodies is characterized by an AIDS‐like illness with disruptive IFN‐γ signaling. Patients generally present with recurrent and disseminated opportunistic infections along with neutrophilic dermatoses.
Piranit Kantaputra, Suteeraporn Chaowattanapanit, Salin Kiratikanon, Romanee Chaiwarith, Chareon Choonhakarn, Worrachet Intachai, Natalina Quarto, Sissades Tongsima, James R. Ketudat Cairns, Chumpol Ngamphiw, John A. McGrath, Mati Chuamanochan   +11 more
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Haplotype-aware detection of SERPINA1 variants by nanopore sequencing.

The Journal of Molecular Diagnostics
α-1 Antitrypsin (AAT) is an acute-phase reactant with immunomodulatory properties that mainly inhibits neutrophil elastase. Low serum levels cause AAT deficiency (AATD), an underdiagnosed condition that predisposes to pulmonary and hepatic diseases. The SERPINA1 gene, which encodes AAT, contains >500 variants.
M. González-Carracedo, E. Herrera-Luis, María Marco-Simancas, Ainhoa Escuela-Escobar, E. Martín-González, O. Sardón-Prado, P. Corcuera, J. M. Hernández-Pérez, F. Lorenzo-Diaz, J. A. Pérez-Pérez   +9 more
semanticscholar   +4 more sources

Protease inhibitor SERPINA1 expression in epithelial ovarian cancer

Clinical & Experimental Metastasis, 2010
Epithelial ovarian cancer is the most lethal gynecologic cancer with a 5 years survival rate of 30-40% in patients diagnosed with high-grade invasive disease (TOV). This is in stark contrast to the 95% 5 years survival rate in ovarian cancer patients diagnosed with low malignant potential (LMP) disease.
Karine, Normandin, Benjamin, Péant, Cécile, Le Page, Manon, de Ladurantaye, Véronique, Ouellet, Patricia N, Tonin, Diane M, Provencher, Anne-Marie, Mes-Masson   +7 more
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Functional characterization of the mouse Serpina1 paralog DOM-7

Biological Chemistry, 2018
Abstract The generation of authentic mouse-models for human α1-antitrypsin (A1AT)-deficiency is difficult due to the high complexity of the mouse Serpina1 gene locus. Depending on the exact mouse strain, three to five paralogs are expressed, with different proteinase inhibitory properties.
Karen Jülicher, Annabell Wähner, Kerstin Haase, Karen W. Barbour, Franklin G. Berger, Lutz Wiehlmann, Colin Davenport, Karin Schuster-Gossler, Jörn Stitz, Tobias Cantz, Reto Eggenschwiler   +10 more
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SERPINA1 Gene Variants in Granulomatosis with Polyangiitis

2018
Alpha-1 antitrypsin (A1AT) deficiency is one of the most common genetic disorders in Caucasian population. There is a link between granulomatosis with polyangiitis (GPA) and most frequent variants of SERPINA1 gene encoding severe alpha-1 antitripsin deficiency.
Malgorzata, Hadzik-Blaszczyk, Aneta, Zdral, Tadeusz M, Zielonka, Ada, Rozy, Renata, Krupa, Andrzej, Falkowski, Kazimierz A, Wardyn, Joanna, Chorostowska-Wynimko, Katarzyna, Zycinska   +8 more
openaire   +2 more sources