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Poojary, M.

Publications and source records attributed to Poojary, M..

2 recordsLinked to original sources

Evaluation of melanocyte stem cell population in vitiliginous skin pre- and post-narrow-band UVB phototherapy

Vitiligo vulgaris is an autoimmune disorder characterized by the destruction of epidermal melanocytes leading to white lesions devoid of pigmentation. The destruction of epidermal melanocytes. Is driven by tissue-resident and circulatory immune cells that maintain an inflammatory milieu. Two percent of the global population suffer from vitiligo vulgaris, of which, prevalence is higher in the Indian population. Narrow-band UV-B (NBUVB) phototherapy is commonly used as an economical, non-invasive, and well-tolerated treatment modality. NBUVB promotes the migration of melanocyte stem cells (MelSC) to the epidermis, thus regaining pigmentation in affected individuals. Despite the widespread use of NBUVB in secondary and tertiary clinics in India, the status of melanocyte stem cells and immune cells, pre-and post-NBUVB is not well understood. We observe that following NBUVB phototherapy, melanocyte stem cells (pax3+) re-populate the epidermis and express melanogenesis markers (Tyrosinase, Trp2, kit) concomitant with a decrease in CD3+ T-cells within the skin. Our study reaffirms the therapeutic efficacy of NBUVB in promoting re-pigmentation in an Indian cohort of vitiligo patients. Further, NBUVB is effective in reducing overall immune load, widely considered a major contributor to the pathogenesis of the disease.

cell biology↗

DystoGen Compendium: A comprehensive resource of ACMG annotated movement disorder associated genetic variants

PurposeIn recent years, the advent of high throughput sequencing techniques has led to the identification of a number of genetic variants across different genes that are associated with movement disorders. However, the under-appreciation of the variant spectrum in movement disorders and the lack of consolidated and systematic evidence-based annotation of these variants has long undermined the true potential of genomic approaches to expedite precision medicine. MethodsWe manually curated the genetic variants from a panel of 118 genes that have been associated with monogenic causes of movement disorders and systematically annotated them according to ACMG & AMP (American College of Medical Genetics and the Association of Molecular Pathologists) guidelines. ResultsData integration after systematic classification of variants according to ACMG & AMP guidelines showed 5118 pathogenic/likely pathogenic variants accounting for 18.03% of the total unique variants being annotated. This data and annotations are available in a comprehensive online compendium DystoGen. ConclusionTo the best of our knowledge, this is the most comprehensive compendium of genetic variants in movement disorders annotated as per the ACMG & AMP guidelines for pathogenicity. The compendium indexes 28377 variants along with a wide array of information including the geographical origin of the variant, global distribution, and population allele frequency. The resource has been made available in the URL https://clingen.igib.res.in/dystogen/.

bioinformatics↗