In order to estimate the contribution of mutations at the fibrillin‐1 locus (FBN1) to classical
Marfan syndrome (MFS) and to study possible phenotypic differences between patients with …

Pseudoxanthoma elasticum (PXE) is a heritable connective tissue disorder characterized by
ocular, cutaneous and cardiovascular manifestations. It is caused by mutations in the …

Increasing evidence supports that cellular dysregulations in the degradative routes
contribute to the initiation and progression of neurodegenerative diseases, including …

Background The incidence of Acute Kidney Injury (AKI) and its human and economic cost is
increasing steadily. One way to reduce the burden associated with AKI is to prevent the …

The aim of this study was to detect mutations in the genes coding for the low‐density
lipoprotein receptor and apolipoprotein B in patients of Southeast Asian origin with clinically …

Background: Arterial tortuosity syndrome (ATS) is an uncommon connective tissue disorder
of unknown aetiology. The most prominent feature is tortuosity of the large arteries, but …

All-trans-retinoic acid (RA) and retinoids induce synthesis of tissue-type plasminogen
activator (t-PA) in endothelial and neuroblastoma cells in vitro and in rats in vivo. In HT1080 …

Microglia, the brain-resident immune cells, play an essential role in the upkeep of brain
homeostasis. They actively adapt into specific activation states based on cues from the …

Marfan syndrome (MFS) is an autosomal dominant disorder with a prevalence of 2–3 per 10
000 individuals. Symptoms range from skeletal overgrowth, cutaneous striae to ectopia …

Let Q, I, J be sets of social goods, aspects and individuals, respectively, and consider the
functions v: Q× I× J?{‐1, 1} and w: Q× J?{‐1, 1}. We study two 2‐stage methods for ordering …