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Irene Izquierdo, Isaac Rosa, Susana Belén Bravo, Esteban Guitián, Alexandra Pérez-Serra, Oscar Campuzano, Ramon Brugada, Alipio Mangas, Ángel García, Rocio Toro
UNLABELLED: Dilated cardiomyopathy (DCM) is a severe heart disease characterized by progressive ventricular dilation and impaired systolic function of the left ventricle. We recently identified a novel pathogenic mutation in the LMNA gene in a family affected by DCM showing sudden death background. We now aimed to identify potential biomarkers of disease status, as well as sudden death predictors, in members of this family. We analysed plasma samples from 14 family members carrying the mutation, four of which (with relevant clinical symptoms) were chosen for the proteomic analysis...
October 4, 2016: Journal of Proteomics
Jacek Kabziński, Józef Kedziora, Ireneusz Majsterek
Alpha-1-antytripsin deficiency, human plasma protein belonging to serine proteinase inhibitor, is the underlying reason for causing such diseases as liver cirrhosis or pulmonary emphysema. It has been proven that alpha-1-antytripsin deficiency can be treated with replacement therapy of this protein. Because of the risks associated with the administration to patients with deficiency of alpha-1-antytrypsyny protein fractionated from human plasma, the methods of gaining recombinant alpha-1-antytripsin are still being developed...
December 2010: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
Urszula Piotrowska, Grazyna Adler, Jacek Kilianski
The thyrotropin receptor (TSHR) and alphal-antytripsin contain a fragment of sequence composed of 6 amino acids in which 5 residues are identical. Previously, we have suggested that this region of similarity [residues 34-39: (EEDFRV) in TSHR] is not the target for Graves' disease patients' autoantibodies. To verify this suggestion, we studied the reaction of patients' sera with alphal-antitrypsin. Two methods were used: TRAK assay, normally designed to estimate anti-TSHR autoantibodies in patients' sera, and immunoblotting...
August 2004: Endocrine Research
A Pardo, M Selman
Pulmonary emphysema refers to a lung disorder characterized by a diffuse destruction of the alveolar walls resulting in enlargement of the distal airspaces. The disease is usually a chronic, progressive, and disabling disorder. The concept of proteinase/antiproteinase imbalance evolved from the identification of patients with alpha 1-antytripsin deficiency, and from the development of experimental emphysematous lesions using different enzymes. For a long time, this concept was seen as an elastase/antielastase imbalance, with the consequent degradation of elastin...
January 1999: Histology and Histopathology
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