Molecular profiling of an Indian EB cohort - a single centre experience.

INTRODUCTION: Epidermolysis bullosa (EB) encompasses rare hereditary skin conditions marked by skin fragility, nail dystrophy, and minor trauma-induced skin blisters. This study aims to identify genetic variants in Indian EB patients and examine the relationship between genotypic and phenotypic manifestations. MATERIAL AND METHOD: EB patients seen consecutively over a period of 5 years at Outpatient Department of Dermatology. Baseline demographic data, birth history, family history, skin manifestation at birth, past medical history, current cutaneous manifestations, and the evolution of the disease were assessed and recorded. Genetic variants were identified using targeted gene panel sequencing of 23 EB-related genes, and a genetic-phenotype analysis was performed. RESULTS: Our study included 65 patients with EB. Among 65 EB patients, 38 dystrophic EB cases (58.46%), 12 junctional EB (18.46%), 12 epidermolysis bullosa simplex (18.46%), and 3 Kindler EB (4.62%) were reported. Dominant and recessive forms of dystrophic EB accounted for 16.92% and 41.4%, respectively. We identified 75 unique genetic variants, 58.67% newly discovered and 41.33% previously reported. Compound heterozygous variations were more frequent (55.55%) than homozygous ones (44.44%) in recessive dystrophic EB patients. Junctional EB patients harboured LAMB3 gene mutations more frequently, while epidermolysis bullosa simplex patients showed KRT5 and KRT14 gene missense heterozygous mutations. Kindler EB patients had homozygous mutations in the FERTM1 gene. CONCLUSION: Our study unveiled several novel genetic variants; severe phenotypes associated with nonsense genetic variants. These findings offer valuable insights for future clinical assessments and tailored management strategies.

Silicon nanoforms in crop improvement and stress management.

Although, silicon - the second most abundant element in the earth crust could not supersede carbon (C) in the competition of being the building block of life during evolution, yet its presence has been reported in some life forms. In case of the plants, silicon has been reported widely to promote the plant growth under normal as well as stressful situations. Nanoform of silicon is now being explored for its potential to improve plant productivity and its tolerance against various stresses. Silicon nanoparticles (SiNPs) in the form of nanofertilizers, nanoherbicides, nanopesticides, nanosensors and targeted delivery systems, find great utilization in the field of agriculture. However, the mechanisms underlying their uptake by plants need to be deciphered in detail. Silicon nanoformss are reported to enhance plant growth, majorly by improving photosynthesis rate, elevating nutrient uptake and mitigating reactive oxygen species (ROS)-induced oxidative stress. Various studies have reported their ability to provide tolerance against a range of stresses by upregulating plant defense responses. Moreover, they are proclaimed not to have any detrimental impacts on environment yet. This review includes the up-to-date information in context of the eminent role of silicon nanoforms in crop improvement and stress management, supplemented with suggestions for future research in this field.