نتایج جستجو برای: آزمون پیری زودرس aat

تعداد نتایج: 125013  

2017
Terence R. Flotte Bruce C. Trapnell Margaret Humphries Brenna Carey Roberto Calcedo Farshid Rouhani Martha Campbell-Thompson Anthony T. Yachnis Robert A. Sandhaus Noel G. McElvaney Christian Mueller Louis M. Messina James M. Wilson Mark L. Brantly David R. Knop Jeffrey D. Chulay Mark Brantly

Recombinant adeno-associated virus (rAAV) vectors offer promise for the gene therapy of a1-antitrypsin (AAT) deficiency. In our prior trial, an rAAV vector expressing human AAT (rAAV1-CB-hAAT) provided sustained, vector-derived AAT expression for > 1 year. In the current phase 2 clinical trial, this same vector, produced by a herpes simplex virus complementation method, was administered to nine...

Journal: :Molecular medicine 2012
Eli C Lewis

α(1)-Antitrypsin (AAT) is a 52-kDa circulating serine protease inhibitor. Production of AAT by the liver maintains 0.9-1.75 mg/mL circulating levels. During acute-phase responses, circulating AAT levels increase more than fourfold. In individuals with one of several inherited mutations in AAT, low circulating levels increase the risk for lung, liver and pancreatic destructive diseases, particul...

Journal: :Human gene therapy 2015
Joanna Wozniak Tomasz Wandtke Piotr Kopinski Joanna Chorostowska-Wynimko

Alpha-1 antitrypsin (AAT) is a protease inhibitor belonging to the serpin family. A number of identified mutations in the SERPINA1 gene encoding this protein result in alpha-1 antitrypsin deficiency (AATD). A decrease in AAT serum concentration or reduced biological activity causes considerable risk of chronic respiratory and liver disorders. As a monogenic disease, AATD appears to be an attrac...

Journal: :Respiratory Research 2008
Oliver Senn Erich W Russi Christian Schindler Medea Imboden Arnold von Eckardstein Otto Brändli Elisabeth Zemp Ursula Ackermann-Liebrich Wolfgang Berger Thierry Rochat Maurizio Luisetti Nicole M Probst-Hensch

BACKGROUND Severe alpha1-antitrypsin (AAT) deficiency associated with low AAT blood concentrations is an established genetic COPD risk factor. Less is known about the respiratory health impact of variation in AAT serum concentrations in the general population. We cross-sectionally investigated correlates of circulating AAT concentrations and its association with FEV1. METHODS In 5187 adults (...

2009
Anthony J. Russo Lauren Neville Christine Wroge

AIM Deficiency of Alpha-1-antitrypsin (AAT) can be a genetic condition that increases the risk of developing liver, lung and possibly gastrointestinal disease. Since many autistic children also have gastrointestinal disorders, this study was designed to measure serum concentration of AAT and establish AAT genotypes in autistic children, age and gender matched non-autistic siblings, parents and ...

2016
Rodrigo Russo Laura Russo Zillmer Oliver Augusto Nascimento Beatriz Manzano Ivan Teruaki Ivanaga Leandro Fritscher Fernando Lundgren Marc Miravitlles Heicilainy Del Carlos Gondim Gildo Santos Marcela Amorim Alves Maria Vera Oliveira Altay Alves Lino de Souza Maria Penha Uchoa Sales José Roberto Jardim

Objective: To determine the prevalence of alpha 1-antitrypsin (AAT) deficiency (AATD), as well as allele frequency, in COPD patients in Brazil. Methods: This was a cross-sectional study involving 926 COPD patients 40 years of age or older, from five Brazilian states. All patients underwent determination of AAT levels in dried blood spot (DBS) samples by nephelometry. Those with DBS AAT levels...

Journal: :Nature Biotechnology 1999

2018
Ronald Reilkoff Laurel Stephenson

Abnormalities in alpha-1 antitrypsin (AAT) proteins are risk factors for human disease. While the most common is AAT deficiency, a genetic disorder associated with chronic obstructive pulmonary disease, additional disorders associated with AAT abnormalities are increasingly recognised. We describe a middle-aged woman who presented with fulminant hepatic and multiorgan failure. Evaluation reveal...

Journal: :Biological chemistry 2014
Mario R Ehlers

Alpha-1 antitrypsin (AAT) is a circulating serine protease inhibitor (serpin) that inhibits neutrophil elastase in the lung, and AAT deficiency is associated with early-onset emphysema. AAT is also a liver-derived acute-phase protein that, in vitro and in vivo, reduces production of pro-inflammatory cytokines, inhibits apoptosis, blocks leukocyte degranulation and migration, and modulates local...

Journal: :Clinical and investigative medicine. Medecine clinique et experimentale 2010
Courtney L Bryan K Scott Beard Gregory B Pott Jeremy Rahkola Edward M Gardner Edward N Janoff Leland Shapiro

PURPOSE Several observations suggest the presence of HIV-suppressive factors in the fluid phase of blood. Alpha-1-antitrypsin (AAT), the most abundant serine protease inhibitor in the circulation, has potent anti-HIV activity in vitro, and may function as an endogenous HIV suppressor. Therefore, we assessed serum AAT concentrations for association with HIV infection. METHODS In this cross-sec...

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