BACKGROUND The identification of novel biomarkers for early breast cancer detection
would be a great advance. Because of their role in tumorigenesis and stability in body fluids, …

Background and aims Alpha-1 antitrypsin (AAT) is a product of SERPINA1 gene mainly
expressed by hepatocytes. Clinically relevant mutations in the SERPINA1 gene, such as Z (…

… All samples were histologically confirmed by two pathologists (RG-C, PM) and classified
as triple negative (n=31), Her2 (n=27), luminal B (n=33) or luminal A (n=31) tumors based on …

Retinitis Pigmentosa (RP) is a heterogeneous group of inherited retinal dystrophies characterised
ultimately by the loss of photoreceptor cells. RP is the leading cause of visual loss in …

Introduction Alpha-1 antitrypsin deficiency (AATD) is a genetic condition resulting in lung
and liver disease with a great clinical variability. MicroRNAs have been identified as disease …

… No differences were found in the surface expression of NK cell receptors (n = 4 for each … No
differences were found in the surface expression of NK cell receptors (n = 4 for each condition…

… The N-linked glycosylation typically occurs at the NXT/S motif, where X is any amino acid
except … the glycosylation of the AAT protein by eliminating the N-glycosylation chain at Asn247. …

Different mutations in the SERPINA1 gene result in alpha-1 antitrypsin (AAT) deficiency and
in an increased risk for the development of liver diseases. More than 90% of severe …

Background SERPINA1 is the gene for alpha-1 antitrypsin (AAT), an acute phase protein
with anti-protease and immunoregulatory activities. Mutations in SERPINA1 gene cause AAT …

Non-alcoholic fatty liver disease (NAFLD) is a type of steatosis commonly associated with
obesity, dyslipidemia, hypertension, and diabetes. Other diseases such as inherited alpha-1 …