Variants in HCFC1 and MN1 genes causing intellectual disability in two Pakistani families.

Background: Intellectual disability (ID) is a neurodevelopmental condition affecting around 2% of children and young adults worldwide, characterized by deficits in intellectual functioning and adaptive behavior. Genetic factors contribute to the development of ID phenotypes, including mutations and structural changes in chromosomes. Pathogenic variants in the HCFC1 gene cause X-linked mental retardation syndrome, also known as Siderius type X-linked mental retardation.

Structural and functional implications of SLC13A3 and SLC9A6 mutations: an in silico approach to understanding intellectual disability.

Background: Intellectual disability (ID) is a condition that varies widely in both its clinical presentation and its genetic underpinnings. It significantly impacts patients' learning capacities and lowers their IQ below 70. The solute carrier (SLC) family is the most abundant class of transmembrane transporters and is responsible for the translocation of various substances across cell membranes, including nutrients, ions, metabolites, and medicines.

Optimum Choice of Randomly Oriented Carbon Nanotube Networks for UV-Assisted Gas Sensing Applications.

We investigated the noise and photoresponse characteristics of various optical transparencies of nanotube networks to identify an optimal randomly oriented network of carbon nanotube (CNT)-based devices for UV-assisted gas sensing applications. Our investigation reveals that all of the studied devices demonstrate negative photoconductivity upon exposure to UV light. Our studies confirm the effect of UV irradiation on the electrical properties of CNT networks and the increased photoresponse with decreasing UV light wavelength.

The Expansion of the Spectrum in Stuttering Disorders to a Novel ARMC Gene Family ().

Stuttering is a common neurodevelopment speech disorder that negatively affects the socio-psychological dimensions of people with disability. It displays many attributes of a complex genetic trait, and a few genetic loci have been identified through linkage studies. Stuttering is highly variable regarding its phenotypes and molecular etiology.

Electrical Gating of the Charge-Density-Wave Phases in Two-Dimensional -BN/1T-TaS Devices.

We report on the electrical gating of the charge-density-wave phases and current in -BN-capped three-terminal 1T-TaS heterostructure devices. It is demonstrated that the application of a gate bias can shift the source-drain current-voltage hysteresis associated with the transition between the nearly commensurate and incommensurate charge-density-wave phases. The evolution of the hysteresis and the presence of abrupt spikes in the current while sweeping the gate voltage suggest that the effect is electrical rather than self-heating.

Organic Vapor Sensing Mechanisms by Large-Area Graphene Back-Gated Field-Effect Transistors under UV Irradiation.

The gas sensing properties of graphene back-gated field-effect transistor (GFET) sensors toward acetonitrile, tetrahydrofuran, and chloroform vapors were investigated with the focus on unfolding possible gas detection mechanisms. The FET configuration of the sensor device enabled gate voltage tuning for enhanced measurements of changes in DC electrical characteristics. Electrical measurements were combined with a fluctuation-enhanced sensing methodology and intermittent UV irradiation.

Nature of the 1/ noise in graphene-direct evidence for the mobility fluctuation mechanism.

The nature of the low-frequency 1/ noise in electronic materials and devices is one of the oldest unsolved physical problems ( is the frequency). The fundamental question of the noise source-fluctuations in the mobility . number of charge carriers-is still debated.

Mutation screening of multiple Pakistani MCPH families revealed novel and recurrent protein-truncating mutations of ASPM.

Autosomal primary microcephaly (MCPH) is a heterogenetic disorder that affects brain's cerebral cortex size and leads to a reduction in the cranial vault. Along with the hallmark feature of reduced head circumference, microcephalic patients also exhibit a variable degree of intellectual disability as well. Genetic studies have reported 28 MCPH genes, most of which produce microtubule-associated proteins and are involved in cell division.

Graphene Epoxy-Based Composites as Efficient Electromagnetic Absorbers in the Extremely High-Frequency Band.

We report on the synthesis of the epoxy-based composites with graphene fillers and test their electromagnetic shielding efficiency by the quasi-optic free-space method in the extremely high-frequency (EHF) band (220-325 GHz). The curing adhesive composites were produced by a scalable technique with a mixture of single-layer and few-layer graphene layers of few-micrometer lateral dimensions. It was found that the electromagnetic transmission, , is low even at small concentrations of graphene fillers: <1% at a frequency of 300 GHz for a composite with only ϕ = 1 wt% graphene.