Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth

17q11 microdeletions that encompass NF1 cause 5%-10% of cases of neurofibromatosis type 1, and individuals with microdeletions are typically taller than individuals with intragenic NF1 mutations, suggesting that deletion of a neighboring gene might promote human growth. We identified mutations in RNF135, which is within the NF1 microdeletion region, in six families characterized by overgrowth, learning disability, dysmorphic features and variable additional features. These data identify RNF135 as causative of a new overgrowth syndrome and demonstrate that RNF135 haploinsufficiency contributes to the phenotype of NF1 microdeletion cases.     

An Organizational Cybernetics Framework for Designing a Viable Higher Education System

Systemic Practice and Action Research - The Viable System Model (VSM) is an Organizational Cybernetics framework mainly used to handle systems complexity. The fundamental role of the VSM is to...     

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

We used an exome-sequencing strategy and identified an allelic series of NOTCH2 mutations in Hajdu-Cheney syndrome, an autosomal dominant multisystem disorder characterized by severe and progressive bone loss. The Hajdu-Cheney syndrome mutations are predicted to lead to the premature truncation of NOTCH2 with either disruption or loss of the C-terminal proline-glutamate-serine-threonine-rich proteolytic recognition sequence, the absence of which has previously been shown to increase Notch signaling.     

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

We report a recurrent microdeletion syndrome causing mental retardation, epilepsy and variable facial and digital dysmorphisms. We describe nine affected individuals, including six probands: two with de novo deletions, two who inherited the deletion from an affected parent and two with unknown inheritance. The proximal breakpoint of the largest deletion is contiguous with breakpoint 3 (BP3) of the Prader-Willi and Angelman syndrome region, extending 3.95 Mb distally to BP5. A smaller 1.5-Mb deletion has a proximal breakpoint within the larger deletion (BP4) and shares the same distal BP5. This recurrent 1.5-Mb deletion contains six genes, including a candidate gene for epilepsy (CHRNA7) that is probably responsible for the observed seizure phenotype. The BP4-BP5 region undergoes frequent inversion, suggesting a possible link between this inversion polymorphism and recurrent deletion. The frequency of these microdeletions in mental retardation cases is approximately 0.3% (6/2,082 tested), a prevalence comparable to that of Williams, Angelman and Prader-Willi syndromes.     

The draft genome of the parasitic nematode Trichinella spiralis

Genome evolution studies for the phylum Nematoda have been limited by focusing on comparisons involving Caenorhabditis elegans. We report a draft genome sequence of Trichinella spiralis, a food-borne zoonotic parasite, which is the most common cause of human trichinellosis. This parasitic nematode is an extant member of a clade that diverged early in the evolution of the phylum, enabling identification of archetypical genes and molecular signatures exclusive to nematodes. We sequenced the 64-Mb nuclear genome, which is estimated to contain 15,808 protein-coding genes, at ～35-fold coverage using whole-genome shotgun and hierarchal map-assisted sequencing. Comparative genome analyses support intrachromosomal rearrangements across the phylum, disproportionate numbers of protein family deaths over births in parasitic compared to a non-parasitic nematode and a preponderance of gene-loss and -gain events in nematodes relative to Drosophila melanogaster. This genome sequence and the identified pan-phylum characteristics will contribute to genome evolution studies of Nematoda as well as strategies to combat global parasites of humans, food animals and crops.     

Corrosion behavior of Ni–P/nano-TiC composite coating prepared in electroless baths containing different types of surfactant

In current research, in order to enhance the incorporation of nano-sized TiC particles into electroless Ni–P (EN) coating, different types of surfactant (cationic, anionic, and polymeric) were added to the plating bath. The effects of addition of the surfactants on surface morphology, deposition rate, TiC and P contents of the prepared coatings were investigated. The surface morphology was evaluated by scanning electron microscopy (SEM). It was demonstrated that in the presence of the anionic, polymeric and somehow cationic surfactants, TiC nano-particles were embedded in the matrix which influenced the surface morphology. The effect of surfactant types on the corrosion properties of Ni–P/TiC coated steel was also studied. Corrosion behavior of the coated steel was evaluated by potentiodynamic polarization and electrochemical impedance spectroscopy (EIS) which affected by the incorporation of TiC particles into the Ni–P matrix. The level of corrosion resistance improvement depended largely on the phosphorous and TiC concentration of the applied coating.     

Preparation of electroless Ni–P composite coatings containing nano-scattered alumina in presence of polymeric surfactant

Ni–P electroless coating was applied on low carbon steel with the incorporation of different amounts of nano Al2O3 powder (ranging from 3 g/l to 30 g/l) in electroless bath. Corrosion properties and microstructures of the coating were studied. The dispersion stability of alumina colloidal particles stabilized by polymeric (non-ionic) surfactants in an electroless bath was also investigated. The surface morphology and the relevant structure were evaluated by scanning electron microscopy (SEM) and X-ray diffraction (XRD). Corrosion behavior of the coated steel was evaluated by electrochemical impedance spectroscopy (EIS) and polarization techniques. The results showed that increasing alumina concentration not only changed the surface morphology, but also promoted the corrosion resistance. Addition of surfactants has an indirect effect on the amount of the incorporated particles. Meanwhile, in the presence of surfactant, corrosion resistance of Ni–P coating containing even a small quantity of alumina was improved since a stabilized bath was obtained.