نتایج جستجو برای: 1 antitrypsin a1at

تعداد نتایج: 2753541  

2011
Jennifer A Dickens David A Lomas

Alpha-1-antitrypsin is the most abundant circulating protease inhibitor. It is mainly produced by the liver and secreted into the circulation where it acts to prevent excessive proteolytic damage in the lungs by the enzyme neutrophil elastase. The most common severe deficiency allele is the Z mutation, which causes the protein to self-associate into ordered polymers. These polymers accumulate w...

Journal: :Molecular therapy : the journal of the American Society of Gene Therapy 2017
Christian Mueller Gwladys Gernoux Alisha M Gruntman Florie Borel Emer P Reeves Roberto Calcedo Farshid N Rouhani Anthony Yachnis Margaret Humphries Martha Campbell-Thompson Louis Messina Jeffrey D Chulay Bruce Trapnell James M Wilson Noel G McElvaney Terence R Flotte

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...

Journal: :Biomedicines 2023

Approximately 50% of all global blindness is caused by cataract in adults aged ≥50 years. The mechanisms the disease are most arguably related to a redox imbalance and inflammation; therefore, aim study was evaluate processes associated with inflammation patients. Twenty-four patients 22–60 years (62.5% females) participated study, 33 controls 28–60 (66.7% females). Venous blood serum subjects ...

Journal: :The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology 2012
Halis Şımşek Aslı Pinar Akif Altinbaş Alparslan Alp Yasemin H Balaban Yahya Büyükaşik Osman Özcebe Gülşen Hasçelık Gökhan Gedıkoğlu Gonca Tatar

BACKGROUND/AIMS Alpha-1 antitrypsin deficiency causes accumulation of mutant alpha-1 antitrypsin molecules in hepatocytes, and is attributed to severe liver injury even in heterozygous state. However, there is a question as to whether alpha-1 antitrypsin deficiency is only a cause of liver injury or has a worsening effect on the underlying liver disease. We aimed to determine the role of alpha-...

Journal: :Journal of the Royal Society of Medicine 1990

Journal: :Proceedings of the American Thoracic Society 2010

Journal: :Respiratory care 2003
James K Stoller

Alpha-1 antitrypsin deficiency is a common but under-recognized condition on which respiratory therapists can have a large impact. A key recent development is the issuance of an international evidence-based standards document regarding diagnosis and management of individuals with alpha-1 antitrypsin deficiency. This report summarizes that standards document, which recommends more widespread tes...

Journal: :Journal of clinical pathology 1987
E M Quigley I N Ross M R Haeney I B Holbrook M N Marsh

Faecal alpha-1-antitrypsin and 51Cr-albumin losses in 42 patients with either gastrointestinal or hepatic disease were compared. The reference range was derived from measurements in 20 controls without gastrointestinal disease. Alpha-1-antitrypsin excretion was increased in patients with excessive 51Cr-albumin loss, and correlations were found between alpha-1-antitrypsin clearance and 51Cr-albu...

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