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    SERPINA1 serpin family A member 1 [ Homo sapiens (human) ]

    Gene ID: 5265, updated on 3-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Quantification of circulating alpha-1-antitrypsin polymers associated with different SERPINA1 genotypes.

    Quantification of circulating alpha-1-antitrypsin polymers associated with different SERPINA1 genotypes.
    Balderacchi AM, Bignotti M, Ottaviani S, Denardo A, Barzon V, Ben Khlifa E, Vailati G, Piloni D, Benini F, Corda L, Corsico AG, Ferrarotti I, Fra A.

    09/14/2024
    Prevalence of Alpha-1 Antitrypsin Deficiency Alleles in a Lithuanian Cohort of Wheezing Small Children.

    Prevalence of Alpha-1 Antitrypsin Deficiency Alleles in a Lithuanian Cohort of Wheezing Small Children.
    Poluzioroviene E, Chorostowska-Wynimko J, Petraitiene S, Strumila A, Rozy A, Zdral A, Valiulis A., Free PMC Article

    08/29/2024
    Analysis of alpha-1-antitrypsin (AAT)-regulated, glucocorticoid receptor-dependent genes in macrophages reveals a novel host defense function of AAT.

    Analysis of alpha-1-antitrypsin (AAT)-regulated, glucocorticoid receptor-dependent genes in macrophages reveals a novel host defense function of AAT.
    Bai X, Gao J, Guan X, Narum DE, Fornis LB, Griffith DE, Gao B, Sandhaus RA, Huang H, Chan ED., Free PMC Article

    08/5/2024
    Heterozygous SERPINA1 Defects and Their Impact on Clinical Manifestations of Patients with Predominantly Antibody Deficiencies.

    Heterozygous SERPINA1 Defects and Their Impact on Clinical Manifestations of Patients with Predominantly Antibody Deficiencies.
    Sarrou S, Voulgaridi I, Fousika A, Dadouli K, Margaritopoulou O, Kakkas I, Hadjichristodoulou C, Kalala F, Speletas M., Free PMC Article

    07/3/2024
    Alpha-1 deficiency in severe asthma patients.

    Alpha-1 deficiency in severe asthma patients.
    Zappa M, Grossi S, Pignatti P, Pini L, Centis R, Migliori GB, Ardesi F, Sotgiu G, Corsico AG, Spanevello A, Visca D.

    04/29/2024
    Alpha1-antitrypsin impacts innate host-pathogen interactions with Candida albicans by stimulating fungal filamentation.

    Alpha1-antitrypsin impacts innate host-pathogen interactions with Candida albicans by stimulating fungal filamentation.
    Jaeger M, Dietschmann A, Austermeier S, Dinçer S, Porschitz P, Vornholz L, Maas RJA, Sprenkeler EGG, Ruland J, Wirtz S, Azam T, Joosten LAB, Hube B, Netea MG, Dinarello CA, Gresnigt MS., Free PMC Article

    04/19/2024
    Alpha-1 antitrypsin deficiency.

    Alpha-1 antitrypsin deficiency.
    Dasí F.

    04/3/2024
    Lipoproteins in Negative Feedback with Alpha-1 Antitrypsin.

    Lipoproteins in Negative Feedback with Alpha-1 Antitrypsin.
    Bristow CL.

    04/1/2024
    Cardiovascular disease in Alpha 1 antitrypsin deficiency: an observational study assessing the role of neutrophil proteinase activity and the suitability of validated screening tools.

    Cardiovascular disease in Alpha 1 antitrypsin deficiency: an observational study assessing the role of neutrophil proteinase activity and the suitability of validated screening tools.
    Sapey E, Crowley LE, Edgar RG, Griffiths D, Samanta S, Crisford H, Bolton CE, Hurst JR, Stockley RA., Free PMC Article

    03/27/2024
    Comparison among populations with severe and intermediate alpha1-antitrypsin deficiency and chronic obstructive pulmonary disease.

    Comparison among populations with severe and intermediate alpha1-antitrypsin deficiency and chronic obstructive pulmonary disease.
    Piloni D, Ottaviani S, Saderi L, Corda L, Baderna P, Barzon V, Balderacchi AM, Seebacher C, Balbi B, Albicini F, Corino A, Mennitti MC, Tirelli C, Spreafico F, Bosio M, Mariani F, Sotgiu G, Corsico AG, Ferrarotti I.

    03/25/2024
    Impact of PNPLA3 I148M on alpha-1 antitrypsin deficiency-dependent liver disease progression.

    Impact of PNPLA3 I148M on alpha-1 antitrypsin deficiency-dependent liver disease progression.
    Volkert I, Fromme M, Schneider C, Candels L, Lindhauer C, Su H, Thorhauge K, Pons M, Mohamed MR, Schneider KM, Strnad P, Trautwein C.

    03/20/2024
    Overexpression of Alpha-1 Antitrypsin Increases the Proliferation of Mesenchymal Stem Cells by Upregulation of Cyclin D1.

    Overexpression of Alpha-1 Antitrypsin Increases the Proliferation of Mesenchymal Stem Cells by Upregulation of Cyclin D1.
    Wolf B, Muralidharan P, Lee MY, Hua W, Green E, Wang H, Strange C., Free PMC Article

    03/8/2024
    Alpha-1 antitrypsin deficiency in Madeira Island: The first null variant and the contribution of deficient genotypes.

    Alpha-1 antitrypsin deficiency in Madeira Island: The first null variant and the contribution of deficient genotypes.
    Gonçalves AS, Carvalho J, Sousa C, Seixas S, Teixeira V.

    03/5/2024
    Association of the methionine sulfoxide reductase A rs10903323 gene polymorphism with functional activity and oxidative modification of alpha-1-antitrypsin in COPD patients.

    Association of the methionine sulfoxide reductase A rs10903323 gene polymorphism with functional activity and oxidative modification of alpha-1-antitrypsin in COPD patients.
    Milovanovic V, Topic A, Milinkovic N, Lazic Z, Ivosevic A, Radojkovic D, Rankov AD.

    03/5/2024
    Rare variants in alpha 1 antitrypsin deficiency: a systematic literature review.

    Rare variants in alpha 1 antitrypsin deficiency: a systematic literature review.
    Ferrarotti I, Wencker M, Chorostowska-Wynimko J., Free PMC Article

    02/28/2024
    Sirtuin3 promotes the degradation of hepatic Z alpha-1 antitrypsin through lipophagy.

    Sirtuin3 promotes the degradation of hepatic Z alpha-1 antitrypsin through lipophagy.
    Poole B, Oshins R, Huo Z, Aranyos A, West J, Duarte S, Clark VC, Beduschi T, Zarrinpar A, Brantly M, Khodayari N., Free PMC Article

    02/21/2024
    Danish children with ZZ-homozygous alpha-1 antitrypsin deficiency are more affected on liver parameters than children with heterozygosity.

    Danish children with ZZ-homozygous alpha-1 antitrypsin deficiency are more affected on liver parameters than children with heterozygosity.
    Winther CL, Nyrann S, Gaardskaer Nielsen R, Duno M, Johansen KB, Helt TW, Brix Christensen V.

    02/16/2024
    Alpha-1 Antitrypsin Gene Variants in Patients without Severe Deficiency Diagnosed with Pulmonary Emphysema on Chest CT.

    Alpha-1 Antitrypsin Gene Variants in Patients without Severe Deficiency Diagnosed with Pulmonary Emphysema on Chest CT.
    Laviña E, Lumbreras S, Bravo L, Soriano JB, Izquierdo JL, Rodríguez JM., Free PMC Article

    02/15/2024
    Alpha-1 Antitrypsin Augmentation and the Liver Phenotype of Adults With Alpha-1 Antitrypsin Deficiency (Genotype Pi *ZZ).

    Alpha-1 Antitrypsin Augmentation and the Liver Phenotype of Adults With Alpha-1 Antitrypsin Deficiency (Genotype Pi∗ZZ).
    Fromme M, Hamesch K, Schneider CV, Mandorfer M, Pons M, Thorhauge KH, Pereira V, Sperl J, Frankova S, Reichert MC, Benini F, Burbaum B, Kleinjans M, Amzou S, Rademacher L, Bewersdorf L, Verbeek J, Nevens F, Genesca J, Miravitlles M, Nuñez A, Schaefer B, Zoller H, Janciauskiene S, Waern J, Oliveira A, Maia L, Simões C, Mahadeva R, Fraughen DD, Trauner M, Krag A, Lammert F, Bals R, Gaisa NT, Aigner E, Griffiths WJ, Denk H, Teumer A, McElvaney NG, Turner AM, Trautwein C, Strnad P.

    02/6/2024
    Alpha-1-antitrypsin-deficiency is associated with lower cardiovascular risk: an approach based on federated learning.

    Alpha-1-antitrypsin-deficiency is associated with lower cardiovascular risk: an approach based on federated learning.
    Zöller D, Haverkamp C, Makoudjou A, Sofack G, Kiefer S, Gebele D, Pfaffenlehner M, Boeker M, Binder H, Karki K, Seidemann C, Schmeck B, Greulich T, Renz H, Schild S, Seuchter SA, Tibyampansha D, Buhl R, Rohde G, Trudzinski FC, Bals R, Janciauskiene S, Stolz D, Fähndrich S., Free PMC Article

    01/31/2024
    AAT: does it have a place in acute leukemia?

    AAT: does it have a place in acute leukemia?
    Dogu MH, Ozcelik B, Akbulut YE, Kantarci M, Bektas E, Serin I.

    01/16/2024
    Neonatal cholestasis in children with Alpha-1-AT deficiency is a risk for earlier severe liver disease with male predominance.

    Neonatal cholestasis in children with Alpha-1-AT deficiency is a risk for earlier severe liver disease with male predominance.
    Teckman J, Rosenthal P, Ignacio RV, Spino C, Bass LM, Horslen S, Wang K, Magee JC, Karpen S, Asai A, Molleston JP, Squires RH, Kamath BM, Guthery SL, Loomes KM, Shneider BL, Sokol RJ, ChiLDReN (Childhood Liver Disease Research Network)., Free PMC Article

    12/18/2023
    Initial alpha-1 antitrypsin screening in Turkish patients with chronic obstructive pulmonary disease.

    Initial alpha-1 antitrypsin screening in Turkish patients with chronic obstructive pulmonary disease.
    Önür ST., Free PMC Article

    12/6/2023
    Alpha-1 antitrypsin inhibits fractalkine-mediated monocyte-lung endothelial cell interactions.

    Alpha-1 antitrypsin inhibits fractalkine-mediated monocyte-lung endothelial cell interactions.
    Mikosz A, Ni K, Gally F, Pratte KA, Winfree S, Lin Q, Echelman I, Wetmore B, Cao D, Justice MJ, Sandhaus RA, Maier L, Strange C, Bowler RP, Petrache I, Serban KA.,

    11/18/2023
    Augmentation Therapy for Severe Alpha-1 Antitrypsin Deficiency Improves Survival and Is Decoupled from Spirometric Decline-A Multinational Registry Analysis.

    Augmentation Therapy for Severe Alpha-1 Antitrypsin Deficiency Improves Survival and Is Decoupled from Spirometric Decline-A Multinational Registry Analysis.
    Fraughen DD, Ghosh AJ, Hobbs BD, Funk GC, Meischl T, Clarenbach CF, Sievi NA, Schmid-Scherzer K, McElvaney OJ, Murphy MP, Roche AD, Clarke L, Strand M, Vafai-Tabrizi F, Kelly G, Gunaratnam C, Carroll TP, McElvaney NG., Free PMC Article

    11/6/2023
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