Results 211 to 220 of about 11,907 (228)

Genetic and clinical factors influencing CF-associated liver disease: the impact of SERPINA1 variants and CFTR genotypes in Romanian pediatric cystic fibrosis patients

Medicine and Pharmacy Reports
Background Hepatic disease represents a significant complication in children with cystic fibrosis (CF), yet its relationship with specific genetic factors, including CFTR (Cystic fibrosis transmembrane conductance regulator) mutations and SERPINA1 ...
E. Moiceanu, I. Stan, Simona Elena Moșescu, A. Chiș, R. Vulturar, D. Leucuța, G. Nițescu, Maria Iacobescu, E. M. Petran, D. Dumitrascu   +9 more
semanticscholar   +1 more source

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 activation by RUNX1 drives microglial M2 polarization and reduces neuronal injury in a Parkinson’s disease mouse model

Cytotechnology (Dordrecht)
Keling Zhang, Shu Ding, Ting Li, Tangkun Yuan, Xiaoyu Cai   +4 more
semanticscholar   +1 more source

Association of AAT/SERPINA1 PI*Z Variant with Gestational Duration and Prevention of Premature Birth in Knockout Mice by AAT-Supplementation

medRxiv
E. Koivulehto, A. Pasanen, A. Haapalainen, H. Tiensuu, FinnGen, M. Ramet, M. Hallman   +6 more
semanticscholar   +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

SERPINA1 as a therapeutic target in ATTR Amyloidosis

Zeitschrift für Gastroenterologie, 2018
C Niemietz, S Guttmann, V Sauer, A Zibert, H Schmidt   +4 more
openaire   +1 more source

A new SERPINA1 null allele of the PI*S-plus type: PI*Q0Tegueste.

Gene
J. M. Hernández Pérez, Ainhoa Escuela-Escobar, Ruth López Travieso, F. M. Bugallo, M. González-Carracedo, J. A. Pérez-Pérez   +5 more
semanticscholar   +1 more source

SERPINA1 Pi*MZ als unabhängiger Risikofaktor für die Entwicklung eines hepatozellulären Karzinoms bei Patient:innen mit chronisch fortgeschrittener Lebererkrankung

Zeitschrift für Gastroenterologie - German Journal of Gastroenterology
L. Balcar, G. Semmler, B. Scheiner, R. Paternostro, B. Simbrunner, M. Jachs, L. Hartl, B. Hofer, N. Dominik, M. Schwarz, G. Kramer, C. Sebesta, P. Thöne, M. Pinter, M. Trauner, T. Reiberger, A. Stättermayer, M. Mandorfer   +17 more
semanticscholar   +1 more source