Results 31 to 40 of about 24,588 (238)
An antibody that prevents serpin polymerisation acts by inducing a novel allosteric behavior [PDF]
, 2016 Serpins are important regulators of proteolytic pathways with an antiprotease activity that involves a conformational transition from a metastable to a hyperstable state. Certain mutations permit the transition to occur in the absence of a protease; when
Faull, Sarah V. +14 more
core +1 more source
BMC Research Notes, 2019 Objective Alpha-1-antitrypsin deficiency is a relatively prevalent, but under-diagnosed, genetic disease. The objective of this study was to assess whether the systematic screening for alpha-1-antitrypsin deficiency in all patients with chronic ...
Cláudia Henrique da Costa +6 more
doaj +1 more source
Alpha 1 “Hereditary Emphysema” Experience: A Patient–Physician Perspective
Pulmonary Therapy, 2020 This article is co-authored by a patient living with alpha-1 antitrypsin deficiency, and her treating physician. The commentary article describes the patient’s experience of the diagnosis and treatment process.
Katie Moyer, Kamyar Afshar
doaj +1 more source
Alpha-1-Antitrypsin Deficiency
Seminars in Liver Disease, 1998 Homozygous PIZZ alpha 1-antitrypsin deficiency, which has an incident of 1 in 1600 to 1 in 2000 live births, is the most common genetic cause of liver disease in children. It is also associated with chronic liver disease and hepatocellular carcinoma in adults. It is a well-known cause of pulmonary emphysema.
Paone G, Brantly M.
openaire +5 more sources
Respiratory Medicine Case Reports, 2018 Alpha-1 antitrypsin deficiency is an autosomal, codominant disorder caused by mutations of the SERPINA1 gene. This genetic disorder is mainly associated with development of pulmonary emphysema and/or chronic liver disease and cirrhosis.Here we report a ...
Zineb Jouhadi +8 more
doaj +1 more source
Clinical features in patients with severe Alpha-1 antitrypsin deficiency due to rare genotypes
PulmonologyAlpha-1 Antitrypsin Deficiency (AATD) is a co-dominant condition associated with an increased risk of lung and liver disease. Since it is commonly thought that 95% of severe cases of AATD have PI*ZZ genotype, most studies about AATD have been focused on ...
Ilaria Ferrarotti +18 more
doaj +1 more source
Mineralization of alpha-1-antitrypsin inclusion bodies in Mmalton alpha-1-antitrypsin deficiency
Orphanet Journal of Rare Diseases, 2018 Background Alpha-1-antitrypsin (AAT) deficiency (AATD) of Z, Mmalton, Siiyama type is associated with liver storage of the mutant proteins and liver disease.
Francesco Callea +10 more
doaj +1 more source
Diabetic retinopathy: could the alpha-1 antitrypsin be a therapeutic option? [PDF]
, 2014 Diabetic retinopathy is one of the most important causes of blindness. The underlying mechanisms of this disease include inflammatory changes and remodeling processes of the extracellular-matrix (ECM) leading to pericyte and vascular endothelial cell ...
Chuluyan, Hector Eduardo +3 more
core +1 more source
Detection of alpha-1 antitrypsin deficiency: the past, present and future
Orphanet Journal of Rare Diseases, 2020 Background Most patients with alpha-1 antitrypsin deficiency remain undiagnosed and therefore do not benefit from current therapies or become eligible for research studies of new treatments under development.
Mark Brantly +12 more
doaj +1 more source
Postponed diagnosis of alpha-1 antitrypsin deficiency [PDF]
Srpski Arhiv za Celokupno Lekarstvo, 2016 nema
Stojković-Lalošević Milica +5 more
doaj +1 more source