Identification of CYP2B6 as a Novel Biomarker of HRD in Colon Adenocarcinoma through WGCNA and Machine Learning. [PDF]
Gao X, Yao J, Hu Q, Yu C, Yang Y.
europepmc +1 more source
Alpha-1 Antitrypsin Deficiency: Current Landscape of Detection, Management, and Treatment. [PDF]
Mawani R, Pye A, Turner AM.
europepmc +1 more source
Pancreatic Digestive Enzyme Dispersion into Human Organs Outside the Gastrointestinal Tract. [PDF]
Chavan R, Schmid-Schönbein GW.
europepmc +1 more source
Common Biomarkers in Chronic Obstructive Pulmonary Disease and Bronchopulmonary Dysplasia: A Narrative Review of an Intriguing Interplay. [PDF]
Gambadauro A +7 more
europepmc +1 more source
In Vitro and In Vivo Effects of SerpinA1 on the Modulation of Transthyretin Proteolysis [PDF]
Transthyretin (TTR) proteolysis has been recognized as a complementary mechanism contributing to transthyretin-related amyloidosis (ATTR amyloidosis). Accordingly, amyloid deposits can be composed mainly of full-length TTR or contain a mixture of both cleaved and full-length TTR, particularly in the heart.
Filipa Bezerra +2 more
exaly +6 more sources
Specific Cerebrospinal Fluid SerpinA1 Isoform Pattern in Alzheimer’s Disease
SerpinA1 (α1-antitrypsin) is a soluble glycoprotein, the cerebrospinal fluid (CSF) isoforms of which showed disease-specific changes in neurodegenerative disorders that are still unexplored in Alz-heimer’s disease (AD). By means of capillary isoelectric focusing immunoassay, we investigated six serpinA1 isoforms in CSF samples of controls (n = 29), AD ...
Lorenzo Barba +2 more
exaly +3 more sources
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Granularity ofSERPINA1alleles by DNA sequencing in CanCOLD
European Respiratory Journal, 2020DNA sequencing of theSERPINA1gene to detect α1-antitrypsin (AAT) deficiency (AATD) may provide a better appreciation of the individual and cumulative impact of genetic variants on AAT serum levels and COPD phenotypes.AAT serum level and DNA sequencing of the coding regions ofSERPINA1were performed in 1359 participants of the Canadian Cohort Obstructive
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SERPINA1, generalized pustular psoriasis, and adult‐onset immunodeficiency
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Functional characterization of the mouse Serpina1 paralog DOM-7
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SERPINA1 Gene Variants in Granulomatosis with Polyangiitis
2018Alpha-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.
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