نتایج جستجو برای: alpha 1 antitrypsin a1at

تعداد نتایج: 2882257  

2010
Mila Ljujic Aleksandra Topic Aleksandra Nikolic Aleksandra Divac Milan Grujic Marija Mitic-Milikic Dragica Radojkovic

The alpha-1-antitrypsin (A1AT) gene is highly polymorphic, with more than 100 genetic variants identified of which some can affect A1AT protein concentration and/or function and lead to pulmonary and/or liver disease. This study reports on the characterization of a p.G320R variant found in two patients, one with emphysema and the other with lung cancer. This variant results from a single base-p...

Journal: :Clinical chemistry 2014
Shannon Haymond

The patient’s serum -1 globulins were reduced at 1.3 g/L (reference interval, 2.1–3.5 g/L). Potential causes include malnutrition, excessive excretion, decreased production, and 1-antitrypsin (A1AT) deficiency. The clinical history was consistent with A1AT deficiency (1–3 ). The diagnosis should be confirmed by direct quantification of circulating A1AT by immunoassay and confirmation of the pre...

2009
Caitriona McLean Catherine M Greene Noel G McElvaney

Alpha-1 antitrypsin (A1AT) is a 52 kDa serine protease inhibitor that is synthesized in and secreted from the liver. Although it is present in all tissues in the body the present consensus is that its main role is to inhibit neutrophil elastase in the lung. A1AT deficiency occurs due to mutations of the A1AT gene that reduce serum A1AT levels to <35% of normal. The most clinically significant f...

2014
Ines Potočnjak Goran Tešović Andrea Tešija Kuna Mario Štefanović Orjena Žaja

Congenital Cytomegalovirus (CMV) infection and alpha 1-antitrypsin (A1AT) deficiency are separately well described entities, but their simultaneous occurrence can pose a special challenge to a clinician, especially dealing with optimal diagnostic as well as therapeutic approach. Congenital CMV infection is the most common vertically transmitted infection in developed countries. In 85-95% of new...

2015
John H. Wen Hsiang Wen Katherine N. Gibson-Corley Kevin A. Glenn Kah-Leong Lim

Alpha-1 antitrypsin deficiency is the leading cause of childhood liver failure and one of the most common lethal genetic diseases. The disease-causing mutant A1AT-Z fails to fold correctly and accumulates in the endoplasmic reticulum (ER) of the liver, resulting in hepatic fibrosis and hepatocellular carcinoma in a subset of patients. Furthermore, A1AT-Z sequestration in hepatocytes leads to a ...

Journal: :Eureka: Life Sciences 2022

According to world publications, mutations in the SERPINA1 gene may be a genetic risk factor for severe chronic obstructive pulmonary disease and, consequently, rapid progression of respiratory dysfunction. This leads decrease level alpha-1-antitrypsin protein. It is inherited by autosomal recessive type, but there are registered cases codominance. In absence treatment, diseases system become a...

Journal: :Blood 1995
W A Wuillemin M Minnema J C Meijers D Roem A J Eerenberg J H Nuijens H ten Cate C E Hack

From experiments with purified proteins, it has been concluded that factor XIa (FXIa) is inhibited in plasma mainly by alpha 1-antitrypsin (a1AT), followed by antithrombin III (ATIII), C1-inhibitor (C1Inh), and alpha 2-antiplasmin (a2AP). However, the validity of this concept has never been studied in plasma. We established the relative contribution of different inhibitors to the inactivation o...

2016
Phyllis M. Quinn David W. Dunne Shona C. Moore Richard J. Pleass

Several splice variants of IgE exist in human plasma, including a variant called IgE-tailpiece (IgE-tp) that differs from classical IgE by the replacement of two carboxy-terminal amino acids with eight novel residues that include an ultimate cysteine. To date, the role of the secreted IgE-tp isoform in human immunity is unknown. We show that levels of IgE-tp are raised in helminth-infected dono...

Journal: :Thorax 2008
P Geraghty M P Rogan C M Greene M L Brantly S J O'Neill C C Taggart N G McElvaney

BACKGROUND Neutrophil elastase (NE) activity is increased in lung diseases such as alpha(1)-antitrypsin (A1AT) deficiency and pneumonia. It has recently been shown to induce expression of cathepsin B and matrix metalloprotease 2 (MMP-2) in vitro and in a mouse model. It is postulated that increased cathepsin B and MMP-2 in acute and chronic lung diseases result from high levels of extracellular...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2011
Theresa Lindhout Umar Iqbal Lisa M Willis Anne N Reid Jianjun Li Xin Liu Maria Moreno Warren W Wakarchuk

The posttranslational modification of therapeutic proteins with terminal sialic acids is one means of improving their circulating half-life, thereby improving their efficiency. We have developed a two-step in vitro enzymatic modification of glycoproteins, which has previously only been achieved by chemical means [Gregoriadis G, Jain S, Papaioannou I, Laing P (2005) Int J Pharm 300:125-130). Thi...

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