De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India.

The contribution of de novo variants as a cause of intellectual disability (ID) is well established in several cohorts reported from the developed world. However, the genetic landscape as well as the appropriate testing strategies for identification of de novo variants of these disorders remain largely unknown in low-and middle-income countries like India. In this study, we delineate the clinical and genotypic spectrum of 54 families (55 individuals) with syndromic ID harboring rare de novo variants.

Covalently bonded interface in polymer/boron nitride nanosheet composite toward enhanced mechanical and thermal behaviour.

This experimental study aimed to enhance the mechanical and thermal properties of BN (hexagonal boron nitride) nanosheet-reinforced high-density polyethylene by functionalizing its interface. The challenges associated with this nanocomposites are its poor dispersion and weak interface. Accordingly, to improve the load transfer at the interface, BN nanosheets were chemically modified with silane functional groups ((3-aminopropyl)tri-ethoxy silane), making it possible to form covalent bonds between the maleic anhydride-grafted polyethylene and nanosheet.

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly.

Arthrogryposis multiplex congenita forms a broad group of clinically and etiologically heterogeneous disorders characterized by congenital joint contractures that involve at least two different parts of the body. Neurological and muscular disorders are commonly underlying arthrogryposis. Here, we report five affected individuals from three independent families sharing an overlapping phenotype with congenital contractures affecting shoulder, elbow, hand, hip, knee and foot as well as scoliosis, reduced palmar and plantar skin folds, microcephaly and facial dysmorphism.

Deciphering functional biomolecule potential of marine diatoms through complex network approach.

Marine diatoms are unique reservoirs of bioactive compounds having enormous applications in therapeutics. But high-throughput screening methods are needed to elucidate the interaction between numerous biomolecules and their targets, facilitating rapid screening for novel drug molecules. So, in the present study chemical constituents were extracted from five marine diatoms using un-targeted metabolite profiling and in-silico virtual screening bioinformatics was employed to predict their bioactivity and molecular targets.

"On-the-Fly" Fabrication of Highly-Ordered Interconnected Cylindrical and Spherical Porous Microparticles via Dual Polymerization Zone Microfluidics.

A microfluidic platform with dual photopolymerization zones has been developed for production of novel uniform interconnected porous particles with shapes imposed either by the geometry of the external capillary or by the thermodynamic minimization of interfacial area. Double w/o/w (water/oil/water) drops with well-defined internal droplet size and number were produced and then exposed to online photopolymerization to create the porous particles. Cylindrical interconnected porous particles were produced in a segmented flow where the drops took the shape of the capillary.

Transformable bubble-filled alginate microfibers via vertical microfluidics.

A novel buoyancy-assisted vertical microfluidic setup has been developed to fabricate a new class of transformable bubble-filled hydrogel microfibers. A co-axial flow of an aqueous sodium-alginate solution enveloping an air phase was injected into a quiescent aqueous CaCl2 solution, through a vertically-oriented co-axial glass-capillary setup. This induced instantaneous gelation and produced bubble-filled calcium-alginate fibers.

Net2Align: An Algorithm For Pairwise Global Alignment of Biological Networks.

The amount of data on molecular interactions is growing at an enormous pace, whereas the progress of methods for analysing this data is still lacking behind. Particularly, in the area of comparative analysis of biological networks, where one wishes to explore the similarity between two biological networks, this holds a potential problem. In consideration that the functionality primarily runs at the network level, it advocates the need for robust comparison methods.

Flexible Asymmetric Encapsulation for Dehydration-Responsive Hybrid Microfibers.

A new class of smart alginate microfibers with asymmetric oil encapsulates is introduced. These fibers are produced by injecting an aqueous alginate solution into an outer aqueous calcium chloride solution to form alginate fibers, which are asymmetrically loaded with oil entities through eccentrically aligned inner capillaries. The fiber morphology and its degree of asymmetry can be tuned via altering the size, location, and frequency of the oil encapsulates.

Large ultrathin shelled drops produced via non-confined microfluidics.

We present a facile approach for producing large and monodisperse core-shell drops with ultrathin shells using a single-step process. A biphasic compound jet is introduced into a quiescent third (outer) phase that ruptures to form core-shell drops. Ultrathin shelled drops could only be produced within a certain range of surfactant concentrations and flow rates, highlighting the effect of interfacial tension in engulfing the core in a thin shell.