6 research outputs found
Two Bone Artefacts from the Sanctuary of Iupiter Heliopolitanus in Carnuntum (Lower Austria)
In this paper, the author presents the scarce evidence of bone manufacture in the Roman Age
Sanctuary of Carnuntum-Mühläcker. A not completely finished pipe with a single hole was made
from the humerus of a greylag or domestic goose (Anser anser/A. domesticus). The function of the
other artefact is not exactly known. The carved metacarpus III of an equid, most likely a horse
(Equus caballus L.), resembles a skate or a polisher. In any case, the slight polish marks with
scratches of undefined direction point to a barely used implement. The paper puts these infrequent
objects from Austria in a regional and chronological context
SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function
Genome-wide association studies have identified >50 common variants associated with kidney function, but these variants do not fully explain the variation in eGFR. We performed a two-stage meta-analysis of associations between genotypes from the Illumina exome array and eGFR on the basis of serum creatinine (eGFRcrea) among participants of European ancestry from the CKDGen Consortium (n(stage1);111,666;n(stage2): 48,343). In single-variant analyses, we identified single nucleotide polymorphisms at seven new loci associated with eGFRcrea (PPM1J, EDEM3, ACP1, SPEG, EYA4, CYP1A1, and ATXN2L; P-stage1<3.7 x10(-7)), of which most were common and annotated as nonsynonymous variants. Gene-based analysis identified associations of functional rare variants in three genes with eGFRcrea, including a novel association with the SOS Ras/Rho guanine nucleotide exchange factor 2 gene, SOS2 (P=5.4x 10(-8) by sequence kernel association test). Experimental follow-up in zebrafish embryos revealed changes in glomerular gene expression and renal tubule morphology in the embryonic kidney of acp1- and sos2-knockdowns. These developmental abnormalities associated with altered blood clearance rate and heightened prevalence of edema. This study expands the number of loci associated with kidney function and identifies novel genes with potential roles in kidney formation
A Meta-analysis of Gene Expression Signatures of Blood Pressure and Hypertension
10.1371/journal.pgen.1005035PLoS Genetics113e100503