Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder.

NTNG2 encodes netrin-G2, a membrane-anchored protein implicated in the molecular organization of neuronal circuitry and synaptic organization and diversification in vertebrates. In this study, through a combination of exome sequencing and autozygosity mapping, we have identified 16 individuals (from seven unrelated families) with ultra-rare homozygous missense variants in NTNG2; these individuals present with shared features of a neurodevelopmental disorder consisting of global developmental delay, severe to profound intellectual disability, muscle weakness and abnormal tone, autistic features, behavioral abnormalities, and variable dysmorphisms. The variants disrupt highly conserved residues across the protein. Functional experiments, including in silico analysis of the protein structure, in vitro assessment of cell surface expression, and in vitro knockdown, revealed potential mechanisms of pathogenicity of the variants, including loss of protein function and decreased neurite outgrowth. Our data indicate that appropriate expression of NTNG2 plays an important role in neurotypical development

Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.

PURPOSE: To investigate the effect of PLXNA1 variants on the phenotype of patients with autosomal dominant and recessive inheritance patterns and to functionally characterize the zebrafish homologs plxna1a and plxna1b during development. METHODS: We assembled ten patients from seven families with biallelic or de novo PLXNA1 variants. We describe genotype-phenotype correlations, investigated the variants by structural modeling, and used Morpholino knockdown experiments in zebrafish to characterize the embryonic role of plxna1a and plxna1b. RESULTS: Shared phenotypic features among patients include global developmental delay (9/10), brain anomalies (6/10), and eye anomalies (7/10). Notably, seizures were predominantly reported in patients with monoallelic variants. Structural modeling of missense variants in PLXNA1 suggests distortion in the native protein. Our zebrafish studies enforce an embryonic role of plxna1a and plxna1b in the development of the central nervous system and the eye. CONCLUSION: We propose that different biallelic and monoallelic variants in PLXNA1 result in a novel neurodevelopmental syndrome mainly comprising developmental delay, brain, and eye anomalies. We hypothesize that biallelic variants in the extracellular Plexin-A1 domains lead to impaired dimerization or lack of receptor molecules, whereas monoallelic variants in the intracellular Plexin-A1 domains might impair downstream signaling through a dominant-negative effect

A Real Time Approach to Theft Prevention in the field of Transportation System

This paper report discusses a theft prevention system, which can prevent the theft and also can be track the object. This system is capable to tracking the vehicle as well as theft prevention. An R.F. module is use to exchange the information regarding vehicle and owner of the vehicle with police control room or SOS services. The vehicle can be track with the help of R.F. receiver. A DTMF based fuel lock has been attached in this system. A cell phone with SIM card has been attached with DTMF IC. The fuel flow in the vehicle can be controlled by give a call to this cell phone. This system has been controlled by a microcontroller which can make the system cost effective, low power consumption, effective and reliable

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Not AvailableComparative study was conducted to evaluate the seasonal effects of transportation of goats (Alpine × Beetle) at different flocking densities, supplemented with vitamin C in group I, vitamin C + electrolyte in group II and jaggery in group III, 3 days before transport of animal, during winter and hot humid (HH) seasons. Goats of 10–12 months old were selected from Livestock Research Centre (LRC), National Dairy Research Institute (NDRI), Karnal, India, consisted of 25 goats each, divided into high flocking density (hfd; 15) and low flocking density (lfd; 10), transported for 8 h with average speed of 25 km/h. All the animals were kept off-feed and deprived of water during the transportation period. Blood samples were taken just before transportation, immediately after transportation, 6 h, 12 h, 24 h and 2 days post-transportation from all the three groups. The blood samples were further analysed for estimation of different haematological parameters (haemoglobin (Hb), packed cell volume (PCV) and red blood cell (RBC)). Maximum values (P < 0.05) of Hb, PCV and RBC were observed just after unloading which then returned to normal values within 6–12 h post-transportation at lfd and hfd in both the seasons. Supplementation with vitamin C, vitamin C + electrolyte, and jaggery aided in reducing transportation stress but vitamin C + electrolyte combination proved more beneficial in alleviating transportation stress in the goats.Not Availabl

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Not AvailablePresent study was conducted to investigate the seasonal effects of transportation of goats (Alpine x Beetle) at different flocking densities, supplemented with Vitamin C in group I, Vitamin C + Electrolyte in group II and Jaggery in group III, 3 days before transport of animal, during winter and hot-humid seasons. The goats were selected from LRC, NDRI Karnal and were of 10-12 months old. Each group consisted of 25 goats each, divided into high (15) and low (10) flocking densities, transported for 8h with average speed of 25 Km/h. All the animals were kept off-feed and deprived of water during the transportation period. Physiological responses (Respiration rate, Rectal temperature, Pulse rate and Skin temperature) were recorded before and after transportation. A significant increase (P<0.05) in ST, RT, RR and PR were recorded just after unloading in both the flocking density groups and during both seasons which then declined to basal values (P<0.05) within 6-12 hours post transportation. Supplementation with Vitamin C, Vitamin C + Electrolyte and Jaggery aided in reducing transportation stress but Vitamin C + Electrolyte combination proved more beneficial in alleviating transportation stress in the goats.Not Availabl

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Not AvailableThe present study evaluated the seasonal effects of transportation of goats (Alpine × Beetle) at different flocking densities, supplemented with vitamin C in group I, vitamin C + electrolyte in group II and jaggery in group III, 3 days before transport of animal, during winter and hot-humid seasons. The goats were selected from Livestock Research Centre (LRC), National Dairy Research Institute, Karnal, and were of 10–12 months old. Each group consisted of 25 goats each, divided into high (15) and low (10) flocking densities, transported for 8 h with an average speed of 25 km/h. All the animals were kept off-feed and deprived of water during the transportation period. Blood samples were taken just before transportation, immediately after transportation, 6 h, 12 h, 24 h and 2 days post-transportation from all the three groups. The blood samples were further analysed for estimation of different minerals (Na, K, Cl−, P and Mg). In both the seasons and in both the flocking density groups, higher pre-transportation values (P<0.05) of Na, K, Mg and Cl- were observed whereas P values post transportation (P<0.05) were higher in hot humid season in all the treated groups and also in group III. Except for P, minimum values (P < 0.05) of all other minerals were recorded just after unloading in both the density groups and in both the seasons, which then increased to basal values (P < 0.05) after 12–24 h of post transportation. Supplementation with vitamin C, vitamin C + electrolyte and jaggery aided in reducing transportation stress but vitamin C + electrolyte combination proved more beneficial in alleviating transportation stress in the goats.Not Availabl