Results 201 to 210 of about 11,907 (228)

Plasma Exosomal-Derived SERPINA1 and GNAI2 Downregulation as Potential Diagnostic Biomarkers of Kawasaki Disease with Coronary Artery Aneurysms

International Journal of Molecular Sciences
Kawasaki disease (KD) with coronary artery aneurysms (CAAs) is currently the primary cause of childhood acquired heart disease with an unclear pathogenesis. We established five groups for the discovery of differentially expressed proteins (DEPs): healthy
Yang Zheng, Baoling Bai, Zhimiao Wei, Mingming Zhang, Qin Zhang, Xiaohui Li   +5 more
semanticscholar   +1 more source

“Identification and classification of twenty-one novel SERPINA1 mutations”

Molecular pathology and functional genomics
S. Ottaviani, Martina Defelici, A. Balderacchi, Sara Magni, Davide Piloni, Sara Ylli, G. Stella, A. Corsico, I. Ferrarotti   +8 more
semanticscholar   +2 more sources

Interactions betweenSERPINA1PiMZ genotype, occupational exposure and lung function decline

Occupational and Environmental Medicine, 2013
We evaluated interactions between SERPINA1 PiMZ genotype, associated with intermediate α1-antitrysin deficiency, with outdoor particulate matter ≤10 µm (PM10), and occupational exposure to vapours, dusts, gases and fumes (VGDF), and their effects on annual change in lung function.Pre-bronchodilator spirometry was performed in 3739 adults of the Swiss ...
Mehta AJ, Thun GA, Imboden M, Keidel D, Künzli N, Kromhout H, Miedinger D, Phuleria H, Rochat T, Russi EW, Schindler C, Schwartz J, Vermeulen R, Probst Hensch N, SAPALDIA team, FERRAROTTI, ILARIA, LUISETTI, MAURIZIO   +16 more
openaire   +5 more sources

Exome‐based genotype‐first reverse phenotyping using structured electronic health record data identifies novel SERPINA1 variants associated with liver markers and demonstrates a dominant effect for specific variants on liver phenotype

Hepatology Research
Although several SERPINA1 genetic variants have been reported for their pathogenicity to induce liver disorders through phenotype‐driven approaches, data regarding genotype‐driven approaches of the SERPINA1 locus remain unavailable.
Maël Silva Rodriguez, Margaux Mulot, C. Chéry, M. Bensenane, R. Guéant-Rodriguez, Roland Jaussaud, A. Cobat, François Feillet, Jean-Pierre Bronowicki, F. Namour, J. Guéant, Abderrahim Oussalah   +11 more
semanticscholar   +1 more source

Protease S and Z inhibitor genotypes in the SERPINA1 gene in patients with COPD in the Republic of Panama

Genetics and Clinical Genomics
Background: Alpha-1-Antitrypsin (AAT) is a protein that inhibits protease, especially Trypsin. AAT deficiency can cause lung diseases such as early emphysema, mainly affecting the Anglo-Saxon population; this was considered to be a rare condition in ...
Lydier De Gracia, Lorena Noriega, Estefani Sánchez, Luis Sotillo, Aneth Samudio, Omar Espinosa   +5 more
semanticscholar   +1 more source

Rare SERPINA1 variants leading to severe Alpha-1 Antitrypsin Deficiency

Epidemiology
R. Heeney
semanticscholar   +2 more sources

SERPINA1 Gene Polymorphism: Analysis of Patients Over 2 Years

B50. EMERGING RESEARCH IN ALPHA-1-ANTITRYPSIN DEFICIENCY
M.C. Rufino, T. Bartholo, A.P. Viana, B. Chaves, V. D´Elia, C. Costa   +5 more
semanticscholar   +2 more sources

Elevated expression of SerpinA1 and SerpinA3 in HLA‐positive cervical carcinoma

The Journal of Pathology, 2008
AbstractIn cervical cancer, an important mechanism by which tumour cells escape immune surveillance is loss of HLA class I, enabling tumours to evade recognition and lysis by cytotoxic T lymphocytes. Some tumours, however, escape from immune surveillance without accumulating defects in antigen presentation.
J N, Kloth, A, Gorter, G J, Fleuren, J, Oosting, S, Uljee, N, ter Haar, E J, Dreef, G G, Kenter, E S, Jordanova   +8 more
openaire   +2 more sources

Clinical implications of the SERPINA1 variant, MPalermo, and alpha-1 antitrypsin deficiency in Türkiye

BMC Pulmonary Medicine
Alpha-1 antitrypsin deficiency (AATD) is associated with increased susceptibility to chronic obstructive pulmonary disease (COPD). AATD results from mutations in the SERPINA1 gene and over 500 rare mutations have been identified.
D. Karadoğan, Bettina Dreger, Lourdes Osaba, Enes Ahmetoğlu, Songül Özyurt, Bilge Yılmaz Kara, Nur Hürsoy, T. Telatar, Ünal Şahin   +8 more
semanticscholar   +1 more source

Rare SERPINA1 allele Mwhitstable in patients with Alpha1-antitrypsin deficiency

Molecular pathology and funct. genomics, 2019
Background: Alpha1-Antitrypsin (AAT) Deficiency (AATD) is an hereditary disorder that may lead to early-onset emphysema, and chronic liver disease. AAT is a serine protease inhibitor, encoded by the highly polymorphic SERPINA1 gene (or PI system). PI*Mwhitstable is an intronic mutation consisting on 26-base pair (bp) deletion and 2-bp insertion in ...
Valentina Barzon, Alice Maria Balderacchi, Stefania Ottaviani, Angelo Giudo Corsico, Ilaria Ferrarotti   +4 more
openaire   +1 more source