Results 181 to 190 of about 10,821 (196)

Functional characterization of the mouse Serpina1 paralog DOM-7

Biological Chemistry, 2018
Abstract The generation of authentic mouse-models for human α1-antitrypsin (A1AT)-deficiency is difficult due to the high complexity of the mouse Serpina1 gene locus. Depending on the exact mouse strain, three to five paralogs are expressed, with different proteinase inhibitory properties.
Karen Jülicher, Annabell Wähner, Kerstin Haase, Karen W. Barbour, Franklin G. Berger, Lutz Wiehlmann, Colin Davenport, Karin Schuster-Gossler, Jörn Stitz, Tobias Cantz, Reto Eggenschwiler   +10 more
openaire   +2 more sources

SERPINA1 Gene Variants in Granulomatosis with Polyangiitis

2018
Alpha-1 antitrypsin (A1AT) deficiency is one of the most common genetic disorders in Caucasian population. There is a link between granulomatosis with polyangiitis (GPA) and most frequent variants of SERPINA1 gene encoding severe alpha-1 antitripsin deficiency.
Malgorzata, Hadzik-Blaszczyk, Aneta, Zdral, Tadeusz M, Zielonka, Ada, Rozy, Renata, Krupa, Andrzej, Falkowski, Kazimierz A, Wardyn, Joanna, Chorostowska-Wynimko, Katarzyna, Zycinska   +8 more
openaire   +2 more sources

Interactions betweenSERPINA1PiMZ genotype, occupational exposure and lung function decline

Occupational and Environmental Medicine, 2013
We evaluated interactions between SERPINA1 PiMZ genotype, associated with intermediate α1-antitrysin deficiency, with outdoor particulate matter ≤10 µm (PM10), and occupational exposure to vapours, dusts, gases and fumes (VGDF), and their effects on annual change in lung function.Pre-bronchodilator spirometry was performed in 3739 adults of the Swiss ...
Mehta AJ, Thun GA, Imboden M, Keidel D, Künzli N, Kromhout H, Miedinger D, Phuleria H, Rochat T, Russi EW, Schindler C, Schwartz J, Vermeulen R, Probst Hensch N, SAPALDIA team, FERRAROTTI, ILARIA, LUISETTI, MAURIZIO   +16 more
openaire   +5 more sources

Elevated expression of SerpinA1 and SerpinA3 in HLA‐positive cervical carcinoma

The Journal of Pathology, 2008
AbstractIn cervical cancer, an important mechanism by which tumour cells escape immune surveillance is loss of HLA class I, enabling tumours to evade recognition and lysis by cytotoxic T lymphocytes. Some tumours, however, escape from immune surveillance without accumulating defects in antigen presentation.
J N, Kloth, A, Gorter, G J, Fleuren, J, Oosting, S, Uljee, N, ter Haar, E J, Dreef, G G, Kenter, E S, Jordanova   +8 more
openaire   +2 more sources

Rare SERPINA1 allele Mwhitstable in patients with Alpha1-antitrypsin deficiency

Molecular pathology and funct. genomics, 2019
Background: Alpha1-Antitrypsin (AAT) Deficiency (AATD) is an hereditary disorder that may lead to early-onset emphysema, and chronic liver disease. AAT is a serine protease inhibitor, encoded by the highly polymorphic SERPINA1 gene (or PI system). PI*Mwhitstable is an intronic mutation consisting on 26-base pair (bp) deletion and 2-bp insertion in ...
Valentina Barzon, Alice Maria Balderacchi, Stefania Ottaviani, Angelo Giudo Corsico, Ilaria Ferrarotti   +4 more
openaire   +1 more source

Quantification of circulating alpha-1-antitrypsin polymers associated with different SERPINA1 genotypes

Clinical Chemistry and Laboratory Medicine (CCLM)
Abstract Objectives Alpha-1-antitrypsin deficiency is a genetic disorder caused by mutations in the SERPINA1 gene encoding alpha-1-antitrypsin (AAT), the major serine protease inhibitor in plasma. Reduced AAT levels are associated with elevated risk of developing emphysema mainly due to uncontrolled ...
Alice M. Balderacchi, Mattia Bignotti, Stefania Ottaviani, Andrea Denardo, Valentina Barzon, Emna Ben Khlifa, Guido Vailati, Davide Piloni, Federica Benini, Luciano Corda, Angelo G. Corsico, Ilaria Ferrarotti, Annamaria Fra   +12 more
openaire   +4 more sources

Association Of SerpinA1 With Smoking And COPD

C40. COPD: ALPHA 1 ANTITRYPSIN, 2012
Anna Linja-Aho, Witold Mazur, Tuula Toljamo, Pentti Nieminen, Mikko Ronty, Steffen Ohlmeier, Vuokko L. Kinnula   +6 more
openaire   +1 more source

SERPINA1 wt Allele

2020
openaire   +1 more source

Identification and characterisation of seven novel SERPINA1 null mutations

2014
Background- Alpha-1 antitrypsin (AAT) is a serine protease inhibitor, encoded by the highly polymorphic SERPINA1 gene. Mutations in this gene can lead to AAT deficiency (AATD) which is associated with a substantially increased risk of lung and liver disease. A group of rare mutations causing AATD, termed Null, are characterised by a complete absence of
Ottaviani Stefania, Carroll Tomas P., Ferrarotti Ilaria, FRA, Annamaria, O'Brien Geraldine, Molloy Kevin, Corda Luciano, McElvaney Noel G., Luisetti Maurizio   +8 more
openaire   +1 more source

SERPINA1 levels dictate TTR expression in HepG2 cells

Zeitschrift für Gastroenterologie, 2019
C Niemietz, S Guttmann, V Sandfort, H Schmidt   +3 more
openaire   +1 more source