نتایج جستجو برای: antitrypsin deficiency
تعداد نتایج: 139573 فیلتر نتایج به سال:
Alpha(1)-antitrypsin is a 45-kDa (394-residue) serine protease inhibitor synthesized by hepatocytes, which is released into the circulatory system and protects the lung from the actions of neutrophil elastase via a conformational transition within a dynamic inhibitory mechanism. Relatively common point mutations subvert this transition, causing polymerisation of α(1)-antitrypsin and deficiency ...
Recurrent infections of the upper airways in early life may be a warning sign of inherited α1-antitrypsin deficiency http://ow.ly/iJsF300kbyV.
Chronic obstructive pulmonary disease (COPD) affects over 65 million individuals worldwide, where α-1-antitrypsin deficiency is a major genetic cause of the disease. The α-1-antitrypsin gene, SERPINA1, expresses an exceptional number of mRNA isoforms generated entirely by alternative splicing in the 5'-untranslated region (5'-UTR). Although all SERPINA1 mRNAs encode exactly the same protein, ex...
Alpha-1 antitrypsin deficiency is a cause of liver disease in neonates and emphysema in adults. Protein phenotypes are identified by isoelectric focusing using polyacrylamide gels. The Pharmacia Phastsystem was utilized for electrophoresis in miniature gels to identify heterozygotes for the deficiency. Protein phenotypes were identified by isoelectric focusing in a fixed pH gradient from 4.3 to...
Alpha-1-antitrypsin deficiency was first identified in 1963, together with its association with the early onset of severe lower zone emphysema. Although the mechanisms for the development of emphysema were not clearly understood, it was reasonably assumed that the alveolar destruction was a direct consequence of the release of neutrophil elastase which was then able to digest lung connective ti...
Typical liver cell inclusions of alpha-1-antitrypsin deficiency were found in a patient with the Pi S phenotype and acute alcoholic hepatitis. It is suggested that the inclusions resulted from the combined effects of the S phenotype and alcohol and, on the basis of the known chemistry of the variant antitrypsins, that the lowered serum concentration of antitrypsin associated with the S allele m...
Introduction: α1-antitrypsin deficiency (α1-ATD) is one of the most common genetic disorders in white race, a usual cause of liver disease in children, and hepatopulmonary involvement in children and adult. The aim of this case description is presenting a child with early lung disease without liver parenchymal disorder. Case presentation: We describe a 13 year old boy because of exertional dysp...
Alpha 1 antitrypsin deficiency predisposes subjects to developing pulmonary emphysema and childhood liver cirrhosis. We have studied restriction fragment length polymorphisms (RFLPs) of the alpha 1 antitrypsin gene in a normal population and a group of patients with pulmonary emphysema. We have identified five RFLPs with eight restriction enzymes. The most frequent polymorphisms have been detec...
5 Year Expression and Neutrophil Defect Repair after Gene Therapy in Alpha-1 Antitrypsin Deficiency.
Alpha-1 antitrypsin deficiency is a monogenic disorder resulting in emphysema due principally to the unopposed effects of neutrophil elastase. We previously reported achieving plasma wild-type alpha-1 antitrypsin concentrations at 2.5%-3.8% of the purported therapeutic level at 1 year after a single intramuscular administration of recombinant adeno-associated virus serotype 1 alpha-1 antitrypsi...
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