Chronic mucocutaneous candidiasis disease (CMCD) may be caused by autosomal dominant (AD) IL-17F deficiency or autosomal recessive (AR) IL-17RA deficiency. Here, using whole-exome sequencing, we identified heterozygous germline mutations in STAT1 in 47 patients from 20 kindreds with AD CMCD. Previously described heterozygous STAT1 mutant alleles ar...
Published in The Journal of Immunology
Published in Journal of Autoimmunity
a b s t r a c t Intravenous immunoglobulin (IVIg) is a therapeutic preparation consisting of pools of normal, poly-specific IgG antibodies obtained from plasma of several thousand healthy individuals. In addition to its use in primary and secondary immune deficiency, IVIg is increasingly used in the therapy of a large number of autoimmune condition...
Published in Development Genes and Evolution
Almost all knowledge of the regulation of seg-mentation genes in arthropods comes from Drosophila. In order to study the regulation of the segment-polarity gene engrailed in a non-insect arthropod we focussed on puta-tive regulatory regions of the engrailed.a (en.a) gene in the barnacle crustacean Sacculina carcini. In this animal, en.a is expresse...
Published in Future Virology
KEYWORDS • Archaea • hyperthermophiles • Sulfolobus rod-shaped virus 2 • virus evolution • virus–host interactions Each of the three domains of life, Archaea, Bacteria and Eukarya, is associated with a specific virosphere. Despite the fact that archaeal viruses represent only a minute portion of the characterized virosphere, they have recently gain...
Published in Developmental Biology Journal
The respective role of Pax2 and Pax8 in early kidney development in vertebrates is poorly understood. In this report, we have studied the roles of Pax8 and Pax2 in Xenopus pronephros development using a loss-of-function approach. Our results highlight a differential requirement of these two transcription factors for proper pronephros formation. Pax...
Published in Cell Reports
Graphical Abstract Highlights The tumor suppressor Smad4 is regulated by FGF/MAPK and Wnt/GSK3 phosphorylations Sequential phosphorylations control both Smad4 activity and degradation by b-TrCP In the presence of FGF, Wnt potentiates TGF-b at low physiolog-ical concentrations This mechanism controls germ layer and organizer specification in Xenopus...
Published in Placenta
Placental alkaline phosphatase (PLAP), encoded by the ALPP gene, is produced by the fetal side of the placenta. This enzyme displays strong genetic variability. Some of the variants were reported to be associated with pathology of pregnancy. We show here that the two most common ALPP allelic variants, Pl 1 and Pl 2 , differ in mRNA expression level...
Hypoxia, a common feature of solid tumors and one of the hallmarks of tumor microenvironment, favors tumor survival and progression. Although hypoxia has been reported to play a major role in the acquisition of tumor resistance to cell death, the molecular mechanisms that control the survival of hypoxic cancer cells and the role of hypoxic stress i...
The effects of locomotor training (LT) on skeletal muscle after peripheral nerve injury and acetylcholinesterase deficiency are not well documented. We determined the effects of LT on mouse soleus muscle performance after sciatic nerve transection with excision (full and permanent denervation), nerve transection (partial functional reinnervation),...
