Cairo University

About: Cairo University is a education organization based out in Giza, Egypt. It is known for research contribution in the topics: Population & Medicine. The organization has 33532 authors who have published 55581 publications receiving 792654 citations. The organization is also known as: Fuad I University & King Fuad I University.

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

Abstract: Ciliary dysfunction leads to a broad range of overlapping phenotypes, collectively termed ciliopathies. This grouping is underscored by genetic overlap, where causal genes can also contribute modifier alleles to clinically distinct disorders. Here we show that mutations in TTC21B, which encodes the retrograde intraflagellar transport protein IFT139, cause both isolated nephronophthisis and syndromic Jeune asphyxiating thoracic dystrophy. Moreover, although resequencing of TTC21B in a large, clinically diverse ciliopathy cohort and matched controls showed a similar frequency of rare changes, in vivo and in vitro evaluations showed a significant enrichment of pathogenic alleles in cases (P < 0.003), suggesting that TTC21B contributes pathogenic alleles to ∼5% of ciliopathy cases. Our data illustrate how genetic lesions can be both causally associated with diverse ciliopathies and interact in trans with other disease-causing genes and highlight how saturated resequencing followed by functional analysis of all variants informs the genetic architecture of inherited disorders.

Evidence for the 125 GeV Higgs boson decaying to a pair of τ leptons

Abstract: A search for a standard model Higgs boson decaying into a pair of tau leptons is performed using events recorded by the CMS experiment at the LHC in 2011 and 2012. The dataset corresponds to an integrated luminosity of 4.9 inverse femtobarns at a centre-of-mass energy of 7 TeV and 19.7 inverse femtobarns at 8 TeV. Each tau lepton decays hadronically or leptonically to an electron or a muon, leading to six different final states for the tau-lepton pair, all considered in this analysis. An excess of events is observed over the expected background contributions, with a local significance larger than 3 standard deviations for m[H] values between 115 and 130 GeV. The best fit of the observed H to tau tau signal cross section for m[H] = 125 GeV is 0.78 +- 0.27 times the standard model expectation. These observations constitute evidence for the 125 GeV Higgs boson decaying to a pair of tau leptons.

Highly Ordered Mesoporous CuCo2O4 Nanowires, a Promising Solution for High-Performance Supercapacitors

Abstract: The search for faster, safer, and more efficient energy storage systems continues to inspire researchers to develop new energy storage materials with ultrahigh performance. Mesoporous nanostructures are interesting for supercapacitors because of their high surface area, controlled porosity, and large number of active sites, which promise the utilization of the full capacitance of active materials. Herein, highly ordered mesoporous CuCo2O4 nanowires have been synthesized by nanocasting from a silica SBA-15 template. These nanowires exhibit superior pseudocapacitance of 1210 F g–1 in the initial cycles. Electroactivation of the electrode in the subsequent 250 cycles causes a significant increase in capacitance to 3080 F g–1. An asymmetric supercapacitor composed of mesoporous CuCo2O4 nanowires for the positive electrode and activated carbon for the negative electrode demonstrates an ultrahigh energy density of 42.8 Wh kg–1 with a power density of 15 kW kg–1 plus excellent cycle life. We also show that two a...

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

Abstract: Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of end-stage renal failure. Identification of single-gene causes of SRNS has generated some insights into its pathogenesis; however, additional genes and disease mechanisms remain obscure, and SRNS continues to be treatment refractory. Here we have identified 6 different mutations in coenzyme Q10 biosynthesis monooxygenase 6 (COQ6) in 13 individuals from 7 families by homozygosity mapping. Each mutation was linked to early-onset SRNS with sensorineural deafness. The deleterious effects of these human COQ6 mutations were validated by their lack of complementation in coq6-deficient yeast. Furthermore, knockdown of Coq6 in podocyte cell lines and coq6 in zebrafish embryos caused apoptosis that was partially reversed by coenzyme Q10 treatment. In rats, COQ6 was located within cell processes and the Golgi apparatus of renal glomerular podocytes and in stria vascularis cells of the inner ear, consistent with an oto-renal disease phenotype. These data suggest that coenzyme Q10-related forms of SRNS and hearing loss can be molecularly identified and potentially treated.