Results 201 to 210 of about 459,657 (249)

Alpha-1 Antitrypsin Deficiency Associated COPD.

Clinics in Chest Medicine, 2020
Alpha-1 antitrypsin deficiency (AATD) was the first genetic risk factor for chronic obstructive pulmonary disease (COPD) described. In the more than 50 years since its description, the disease continues to provide insights into more common forms of COPD.
C. Strange
semanticscholar   +1 more source

Alpha-1-antitrypsin augmentation therapy for alpha-1-antitrypsin deficiency

The American Journal of Medicine, 1988
Alpha-1-antitrypsin (A1AT) deficiency is a genetic disorder characterized by low serum levels of A1AT and a high risk for the development of emphysema. A1AT is the principal inhibitor of neutrophil elastase, such that a deficiency of A1AT results in insufficient anti-elastase protection in the lower respiratory tract, thus allowing neutrophil elastase ...
R C, Hubbard, R G, Crystal
openaire   +2 more sources

Clinical and histologic features of adults with alpha-1 antitrypsin deficiency in a non-cirrhotic cohort.

Journal of Hepatology, 2018
BACKGROUND & AIMS Alpha-1 antitrypsin deficiency (AATD) is an uncommonly recognized cause of liver disease in adults, with descriptions of its natural history limited to case series and patient-reported data from disease registries.
V. Clark, George Marek, Chen Liu, Amy Collinsworth, Jonathan Shuster, T. Kurtz, Joanna L Nolte, M. Brantly   +7 more
semanticscholar   +1 more source

Emphysema: looking beyond alpha-1 antitrypsin deficiency

Expert Review of Respiratory Medicine, 2019
Introduction: Distinct pathologies can cause chronic obstructive pulmonary disease (COPD). Emphysema is a COPD-phenotype characterized by destruction of lung parenchyma.
R. Janssen, I. Piscaer, F. Franssen, E. Wouters   +3 more
semanticscholar   +1 more source

Alpha-1-Antitrypsin

1976
Proteinasen sind proteinspaltende Enzyme, die normalerweise nicht als solche im Plasma vorkommen, sondern als Vorstufen, die ihre Aktivitat erst durch Interaktion mit einem oder mehreren Aktivatoren erhalten. Dabei handelt es sich entweder um „selbstandige“ Proenzyme oder um solche, die zu Kaskadensystemen gehoren (ein aus einer Vorstufe entstehendes ...
openaire   +2 more sources

[Alpha 1-antitrypsin deficiency].

Revue des maladies respiratoires, 2016
Pulmonary emphysema and liver disease are the clinical expressions of alpha 1-antitrypsin deficiency, an autosomal recessive genetic disease.Alpha 1-antitrypsin deficiency is usually associated with the homozygous Z variant of the SERPINA1 gene.
openaire   +2 more sources

Amelioration of Alpha-1 Antitrypsin Deficiency Diseases with Genome Editing in Transgenic Mice

Human Gene Therapy, 2018
Alpha-1 antitrypsin deficiency (AATD) is a hereditary liver disease caused by mutations in the SERPINA1 serine protease inhibitor gene. Most severe patients are homozygous for PiZ alleles (PiZZ; amino acid E324K), which lead to protein aggregates in ...
Shen Shen, Minerva E. Sanchez, K. Blomenkamp, Erik Corcoran, Eugenio Marco, Clifford Yudkoff, Haiyan Jiang, J. Teckman, D. Bumcrot, C. Albright   +9 more
semanticscholar   +1 more source

Alpha-1-antitrypsin in malakoplakia

Virchows Archiv A Pathological Anatomy and Histology, 1982
Macrophages in malakoplakia contain large amounts of immunoreactive alpha-1-antitrypsin (AAT). The amount of AAT remains unchanged during the morphogenetic stages of the pathological process (early, granulomatous, fibrosing phases), and does not correlate with the number or the presence of Michaelis-Gutmann (M.G.) bodies.
F, Callea, B, Van Damme, V J, Desmet
openaire   +2 more sources

Alpha-1-Antitrypsin Deficiency Panniculitis

Dermatologic Clinics, 2008
Alpha-1-antitrypsin deficiency is a congenital error of metabolism linked to pulmonary (emphysema) and liver (cirrhosis) disease. Since 1972, panniculitis has been associated with this deficiency, initially related to Weber-Christian syndrome and finally as a differentiated entity.
Ricardo, Valverde, Belén, Rosales, Francisco Javier, Ortiz-de Frutos, José Luis, Rodríguez-Peralto, Pablo L, Ortiz-Romero   +4 more
openaire   +2 more sources

Alpha-1-Antitrypsin Deficiency Liver Disease.

Clinical Liver Disease, 2018
In homozygous ZZ alpha-1-antitrypsin (AAT) deficiency, the liver synthesizes large quantities of AAT mutant Z, which folds improperly during biogenesis and is retained within the hepatocytes and directed into intracellular proteolysis pathways.
Dhiren Patel, J. Teckman
semanticscholar   +1 more source