Quantitative correlation of ENPP1 pathogenic variants with disease phenotype.

Ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) codes for a type 2 transmembrane glycoprotein which hydrolyzes extracellular phosphoanhydrides into bio-active molecules that regulate, inter alia, ectopic mineralization, bone formation, vascular endothelial proliferation, and the innate immune response. The clinical phenotypes produced by ENPP1 deficiency are disparate, ranging from life-threatening arterial calcifications to cutaneous hypopigmentation. To investigate associations between disease phenotype and enzyme activity we quantified the enzyme velocities of 29 unique ENPP1 pathogenic variants in 41 patients enrolled in an NIH study along with 33 other variants reported in literature.

Ultra-fast switching memristors based on two-dimensional materials.

The ability to scale two-dimensional (2D) material thickness down to a single monolayer presents a promising opportunity to realize high-speed energy-efficient memristors. Here, we report an ultra-fast memristor fabricated using atomically thin sheets of 2D hexagonal Boron Nitride, exhibiting the shortest observed switching speed (120 ps) among 2D memristors and low switching energy (2pJ). Furthermore, we study the switching dynamics of these memristors using ultra-short (120ps-3ns) voltage pulses, a frequency range that is highly relevant in the context of modern complementary metal oxide semiconductor (CMOS) circuits.

Identification of ENPP1 Haploinsufficiency in Patients With Diffuse Idiopathic Skeletal Hyperostosis and Early-Onset Osteoporosis.

Homozygous ENPP1 mutations are associated with autosomal recessive hypophosphatemic rickets type 2 (ARHR2), severe ossification of the spinal ligaments, and generalized arterial calcification of infancy type 1. There are a limited number of reports on phenotypes associated with heterozygous ENPP1 mutations. Here, we report a series of three probands and their families with heterozygous and compound heterozygous ENPP1 mutations.

Musculoskeletal Comorbidities and Quality of Life in ENPP1-Deficient Adults and the Response of Enthesopathy to Enzyme Replacement Therapy in Murine Models.

Ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) deficiency leads to cardiovascular calcification in infancy, fibroblast growth factor 23 (FGF23)-mediated hypophosphatemic rickets in childhood, and osteomalacia in adulthood. Excessive enthesis mineralization and cervical spine fusion have been previously reported in patients with biallelic ENPP1 deficiency, but their effect on quality of life is unknown. We describe additional musculoskeletal complications in patients with ENPP1 deficiency, namely osteoarthritis and interosseous membrane ossification, and for the first time evaluate health-related quality of life (HRQoL) in patients with this disease, both subjectively via narrative report, and objectively via the Brief Pain Inventory-Short Form, and a Patient Reported Outcome Measurement Information System Physical Function (PROMIS PF) short form.

Introduction of Near to Far Infrared Range Direct Band Gaps in Graphene: A First Principle Insight.

Lack of band gaps hinders application of graphene in the fields like logic, optoelectronics, and sensing despite its various extraordinary properties. In this work, we have done systematic investigations on direct band gap opening in graphene by hydrogenation and fluorination of carbon vacancies using the density functional theory computational approach. We have seen that although a carbon vacancy (void) opens an indirect band gap in graphene, it also creates unwanted mid gap (trap) states, which is attributed to unbound orbitals of the nearest unsaturated carbon atoms at the vacant site.

Stone-Wales Defect and Vacancy-Assisted Enhanced Atomic Orbital Interactions Between Graphene and Ambient Gases: A First-Principles Insight.

Graphene has magnificent fundamental properties for its application in various fields. However, these fundamental properties have been observed to get perturbed by various agents like intrinsic defects and ambient gases. Degradation as well as p-type behavior of graphene under an ambient atmosphere are some of the properties that have not yet been explored extensively.