Cargando…

SERPINA1 and More? A Putative Genetic Contributor to Pulmonary Dysfunction in Alpha-1 Antitrypsin Deficiency

Alpha-1 antitrypsin deficiency (AATD) is a common inherited disorder associated with an increased risk of pulmonary disease. Its clinical presentation, including the nature and severity of organ involvement, is highly variable and unpredictable and is not as strongly linked to genotype and environme...

Descripción completa

Detalles Bibliográficos
Autores principales:	Jezela-Stanek, Aleksandra, Chorostowska-Wynimko, Joanna
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10003154/ https://www.ncbi.nlm.nih.gov/pubmed/36902496 http://dx.doi.org/10.3390/jcm12051708

Ejemplares similares

Post-Translational Modifications of Circulating Alpha-1-Antitrypsin Protein
por: Lechowicz, Urszula, et al.
Publicado: (2020)

Alpha 1 antitrypsin to treat lung disease in alpha 1 antitrypsin deficiency: recent developments and clinical implications
por: Chapman, Kenneth R, et al.
Publicado: (2018)

Alpha-1 Antitrypsin Z Variant (AAT PI*Z) as a Risk Factor for Intrahepatic Cholestasis of Pregnancy
por: Kosinski, Przemyslaw, et al.
Publicado: (2021)

Targeted screening programmes in COPD: how to identify individuals with α(1)-antitrypsin deficiency
por: Chorostowska-Wynimko, Joanna
Publicado: (2015)

New Patient-Centric Approaches to the Management of Alpha-1 Antitrypsin Deficiency
por: Chorostowska-Wynimko, Joanna, et al.
Publicado: (2020)

Alternative transcripts of the SERPINA1 gene in alpha-1 antitrypsin deficiency
por: Matamala, Nerea, et al.
Publicado: (2015)

The Multifaceted Effects of Alpha1-Antitrypsin on Neutrophil Functions
por: Janciauskiene, Sabina, et al.
Publicado: (2018)

SERPINA1 mRNA as a Treatment for Alpha-1 Antitrypsin Deficiency
por: Connolly, Brendan, et al.
Publicado: (2018)

Variants of SERPINA1 and the increasing complexity of testing for alpha-1 antitrypsin deficiency
por: Foil, Kimberly E.
Publicado: (2021)

A Novel SERPINA1 Mutation Causing Serum Alpha(1)-Antitrypsin Deficiency
por: Saunders, Darren N., et al.
Publicado: (2012)

Does urinary peptide content differ between COPD patients with and without inherited alpha-1 antitrypsin deficiency?
por: Carleo, Alfonso, et al.
Publicado: (2017)

How Can We Improve the Detection of Alpha1-Antitrypsin Deficiency?
por: Ferrarotti, Ilaria, et al.
Publicado: (2015)

Exogenous alpha 1-antitrypsin down-regulates SERPINA1 expression
por: Karadagi, Ahmad, et al.
Publicado: (2017)

Known Mutations at the Cause of Alpha-1 Antitrypsin Deficiency an Updated Overview of SERPINA1 Variation Spectrum
por: Seixas, Susana, et al.
Publicado: (2021)

Impact of COVID-19 in Patients With Severe Alpha-1 Antitrypsin Deficiency: The IMCA1 Study of the EARCO Clinical Research Collaboration
por: Parr, David G., et al.
Publicado: (2022)

Protein modeling to assess the pathogenicity of rare variants of SERPINA1 in patients suspected of having Alpha 1 Antitrypsin Deficiency
por: Kueppers, Friedrich, et al.
Publicado: (2019)

Evaluation of Alpha-1 Antitrypsin Levels and SERPINA1 Gene Polymorphisms in Sickle Cell Disease
por: Carvalho, Magda Oliveira Seixas, et al.
Publicado: (2017)

Clinical Significance of SERPINA1 Gene and Its Encoded Alpha1-Antitrypsin Protein in NSCLC
por: Ercetin, Evrim, et al.
Publicado: (2019)

Identification of a novel SERPINA-1 mutation causing alpha-1 antitrypsin deficiency in a patient with severe bronchiectasis and pulmonary embolism
por: Milger, Katrin, et al.
Publicado: (2015)

Causal and Synthetic Associations of Variants in the SERPINA Gene Cluster with Alpha1-antitrypsin Serum Levels
por: Thun, Gian Andri, et al.
Publicado: (2013)

Deficient and Null Variants of SERPINA1 Are Proteotoxic in a Caenorhabditis elegans Model of α1-Antitrypsin Deficiency
por: Cummings, Erin E., et al.
Publicado: (2015)

Diagnosis and management of α(1)-antitrypsin deficiency in Europe: an expert survey
por: Horváth, Ildikó, et al.
Publicado: (2019)

A combined in silico and in vitro study on mouse Serpina1a antitrypsin-deficiency mutants
por: Eggenschwiler, Reto, et al.
Publicado: (2019)

Alpha-1 Antitrypsin and Hepatocellular Carcinoma in Liver Cirrhosis: SERPINA1 MZ or MS Genotype Carriage Decreases the Risk
por: Rabekova, Zuzana, et al.
Publicado: (2021)

Population genetic testing and SERPINA1 sequencing identifies unidentified alpha-1 antitrypsin deficiency alleles and gene-environment interaction with hepatitis C infection
por: Schuler, Bryce A., et al.
Publicado: (2023)

Mineralization of alpha-1-antitrypsin inclusion bodies in Mmalton alpha-1-antitrypsin deficiency
por: Callea, Francesco, et al.
Publicado: (2018)

Gene therapy for alpha 1-antitrypsin deficiency with an oxidant-resistant human alpha 1-antitrypsin
por: Sosulski, Meredith L., et al.
Publicado: (2020)

Alpha-1 Antitrypsin as a Therapeutic Agent for Conditions not Associated with Alpha-1 Antitrypsin Deficiency
por: Wanner, Adam
Publicado: (2015)

Safety and efficacy of alpha-1-antitrypsin augmentation therapy in the treatment of patients with alpha-1-antitrypsin deficiency
por: Petrache, Irina, et al.
Publicado: (2009)

Molecular characterization of PI(*)S(hangzhou), a SERPINA1 allele from continental China encoding a defective alpha-1-antitrypsin
por: Hernández-Pérez, José M., et al.
Publicado: (2022)

alpha1-Antitrypsin deficiency and hepatocellular cancer.
por: Kew, M. C., et al.
Publicado: (1978)

The prevalence of alpha-1 antitrypsin deficiency in Ireland
por: Carroll, Tomás P, et al.
Publicado: (2011)

Alpha-1 Antitrypsin Deficiency: The Learning Goes On
por: Stockley, Robert. A.
Publicado: (2020)

Monocytes and Macrophages in Alpha-1 Antitrypsin Deficiency
por: Belchamber, Kylie B R, et al.
Publicado: (2020)

Alpha-1 Antitrypsin Deficiency: Home Therapy
por: Annunziata, Anna, et al.
Publicado: (2021)

Quantitative disease progression model of α‐1 proteinase inhibitor therapy on computed tomography lung density in patients with α‐1 antitrypsin deficiency
por: Tortorici, Michael A., et al.
Publicado: (2017)

Research priorities in α(1)-antitrypsin deficiency: results of a patients' and healthcare providers' international survey from the EARCO Clinical Research Collaboration
por: Barrecheguren, Miriam, et al.
Publicado: (2020)

Structural characterization and conformational dynamics of alpha-1 antitrypsin pathogenic variants causing alpha-1-antitrypsin deficiency
por: Shaik, Noor Ahmad, et al.
Publicado: (2022)

Prevalence of genetic polymorphisms in the promoter region of the alpha-1 antitrypsin (SERPINA1) gene in chronic liver disease: a case control study
por: Kok, Karin F, et al.
Publicado: (2010)

Acquired alpha 1-antitrypsin deficiency in tropical pulmonary eosinophilia
por: Ray, Debidas, et al.
Publicado: (2011)

Cannot write session to /tmp/vufind_sessions/sess_dl1navjean40mjd5rn11t2t2k6