Browsing by Author "Kumar, Roshan"
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Item Apert's syndrome: Study by whole exome sequencing(Chongqing yi ke da xue, di 2 lin chuang xue yuan Bing du xing gan yan yan jiu suo, 2018) Munshi, Anjana; Khetarpal, Preeti; Das, Satrupa; Rao, Venkateshwar; Valecha, Monica; Bansal, Manita; Kumar, RoshanIn the present study we attempted a parent-child trio, whole exome sequencing (WES) approach to study Apert's syndrome. Clinical characteristics of the child were noted down and WES was carried out using Ion Torrent System that revealed the presence of previously reported P253R mutation in FGFR2 gene. Presence of two SNPs rs1047057 and rs554851880 in FGFR2 gene with an allelic frequency of 0.5113 and 0.001176 respectively and 161 complete damaging mutations were found. This study is the first reported case of exome sequencing approach on an Apert's syndrome patient aimed at providing better genetic counselling in a non-consanguineous relationship. - 2017 Chongqing Medical UniversityItem Apert’s syndrome: study by whole exome sequencing(Elsevier, 2017) Munshi, Anjana; Khetarpal, Preeti; Das, Satrupa; Rao, Venkateshwar; Valecha, Monica; Bansal, Vanita; Kumar, RoshanIn the present study we attempted a parent-child trio, whole exome sequencing (WES) approach to study Apert’s syndrome. Clinical characteristics of the child were noted down and WES was carried out using Ion Torrent System that revealed the presence of previously reported P253R mutation in FGFR2 gene. Presence of two SNPs rs1047057 and rs554851880 in FGFR2 gene with an allelic frequency of 0.5113 and 0.001176 respectively and 161 complete damaging mutations were found. This study is the first reported case of exome sequencing approach on an Apert’s syndrome patient aimed at providing better genetic counseling in a non-consanguineous relationship.Item Assessment and identification of bioactive metabolites from terrestrial Lyngbya spp. responsible for antioxidant, antifungal, and anticancer activities(Institute for Ionics, 2023-09-09T00:00:00) Verma, Shaloo; Suman, Prabhat; Mandal, Somnath; Kumar, Roshan; Sahana, Nandita; Siddiqui, Nahid; Chakdar, HillolLyngbya from fresh and marine water produces an array of pharmaceutically bioactive therapeutic compounds. However, Lyngbya from agricultural soil is still poorly investigated. Hence, in this study, the bioactive potential of different Lyngbya spp. extract was explored. Intracellular petroleum ether extract of L. hieronymusii K81 showed the highest phenolic content (626.22 � 0.65 ?g GAEs g?1 FW), while intracellular ethyl acetate extract of L. aestuarii K97 (74.02 � 0.002 mg QEs g?1 FW) showed highest flavonoid content. Highest free radical scavenging activity in terms of ABTS�+ was recorded in intracellular methanolic extract of Lyngbya sp. K5 (97.85 � 0.068%), followed by L. wollei K80 (97.22 � 0.059%) while highest DPPH� radical scavenging activity observed by intracellular acetone extract of Lyngbya sp. K5 (54.59 � 0.165%). All the extracts also showed variable degrees of antifungal activities against Fusarium udum, F. oxysporum ciceris, Colletotrichum capsici, and Rhizoctonia solani. Further, extract of L. wollei K80 and L. aestuarii K97 showed potential anticancer activities against MCF7 (breast cancer) cell lines. GC-MS analyses of intracellular methanolic extract of L. wollei K80 showed the dominance of PUFAs with 9,12,15-octadecatrienoic acid, methyl ester, (Z,Z,Z) as the most abundant bioactive compound. On the other hand, the extracellular ethyl acetate extract of L. aestuarii K97 was rich in alkanes and alkenes with 1-hexyl-2-nitrocyclohexane as the most predominant compound. Extracts of Lyngbya spp. rich in novel secondary metabolites such as PUFAs, alkanes, and alkenes can be further explored as an alternative and low-cost antioxidant and potential apoptogens for cancer therapy. � 2023, The Author(s) under exclusive licence to Sociedade Brasileira de Microbiologia.Item Common microRNAs in Epilepsy and Migraine: Their Possibility as Can-didates for Biomarkers and Therapeutic Targets during Comorbid Onset of Both Conditions(Bentham Science Publishers, 2022-04-27T00:00:00) Ludhiadch, Abhilash; Bhardwaj, Nidhi; Gotra, Palvi; Kumar, Roshan; Munshi, AnjanaEpilepsy and migraine are chronic neurological disorders with shared clinical as well as pathophysiological mechanisms. Epileptic patients are at a higher risk of developing migraine compared to normal individuals and vice versa. Several genetic and environmental risk factors have been reported to be associated with the development of both diseases. Previous studies have already estab-lished standard genetic markers involved in various pathways implicated in the pathogenesis of both these comorbid conditions. In addition to genetic markers, epigenetic markers have also been found to be involved in the pathogenesis of epilepsy and migraine. Among the epigenetic markers, miRNAs have been explored at length and have emerged as significant players in regulating the expression of their target genes. miRNAs like miR-22, miR-34a, miR-155, miR-211, and Let-7b play a significant role in neuronal differentiation and seem to be associated with epilepsy and migraine as comorbid conditions. However, the exact shared mechanisms underlying the role of these miRNAs in these comorbid conditions are still unclear. The current review has been compiled with an aim to explore common microRNAs targeting the genes involved in shared molecular pathways leading to epilepsy and migraine as comorbid conditions. The new class of ncRNAs, i.e., tRNA transfer fragments, are also discussed. In addition, their role as potential biomarkers and therapeutic targets has also been eval-uated. However, limitations exist, and based on the current literature available, only a few microRNAs seem to be involved in the pathogenesis of both these disorders. � 2023 Bentham Science Publishers.Item Electro-organic synthesis of C-5 sulfenylated amino uracils: Optimization and exploring topoisomerase-I based anti-cancer profile(Academic Press Inc., 2023-06-10T00:00:00) Rani, Payal; Chahal, Sandhya; Kumar, Roshan; Mayank; Kumar, Parvin; Negi, Arvind; Singh, Rajvir; Kumar, Sudhir; Kataria, Ramesh; Joshi, Gaurav; Sindhu, JayantCancer is spreading worldwide and is one of the leading causes of death. The use of existing chemotherapeutic agents is frequently limited due to side effects. As a result, it is critical to investigate new agents for cancer treatment. In this context, we developed an electrochemical method for the synthesis of a series of thiol-linked pyrimidine derivatives (3a-3p) and explored their anti-cancer potential. The biological profile of the synthesized compounds was evaluated against breast (MDAMB-231 and MCF-7) and colorectal (HCT-116) cancer cell lines. 3b and 3d emerged to be the most potent agents, with IC50 values ranging between 0.98 to 2.45 �M. Target delineation studies followed by secondary anticancer parameters were evaluated for most potent compounds, 3b and 3d. The analysis revealed compounds possess DNA intercalation potential and selective inhibition towards human topoisomerase (hTopo1). The analysis was further corroborated by DNA binding studies and in silico-based molecular modeling studies that validated the intercalating binding mode between the compounds and the DNA. � 2023 Elsevier Inc.Item Microbial-based inoculants in sustainable agriculture: Current perspectives and future prospects(Elsevier, 2021-03-26T00:00:00) Dukare, Ajinath; Paul, Sangeeta; Kumar, Roshan; Sharma, VikasThe incessant use of agrochemicals for improved soil fertility and plant productivity has caused negative environmental impacts, including contamination of soil, groundwater, and aquifers. Hence, eco-friendly methods of plant and soil nutrient management are required to maintain sustained crop productivity and ecological stability. Beneficial microbial inoculants are potential elements of such management approaches. With the latest studies, this chapter summarizes the efforts in using beneficial microbes including plant growth-promoting rhizobacteria and mycorrhizal fungi for improving plant growth and its nutritional quality in a sustained manner. Studies with many microbial inoculants have demonstrated their beneficial role in plant growth through effective root colonization and induction of plant growth support mechanisms. Direct plant growth support by root associated microbes is mediated through enhanced nutrient acquisition and hormonal activation. Numerous antifungal activities of microbes, associated with pathogen inhibition, are usually linked to providing superior plant growth. Some inoculants have been found useful in abiotic stress alleviation and nutritional fortification of edible crops. The use of modern scientific advances for improving performances of microbial inoculants under stressed agriculture is also gaining scientific attention. Overall, the exploitation of beneficial microorganisms and their useful interactions with plants offer promising and eco-friendly strategies in the development of organic agriculture globally. � 2021 Elsevier Inc. All rights reserved.Item Microbial-based inoculants in sustainable agriculture: Current perspectives and future prospects(Elsevier, 2021-03-26T00:00:00) Dukare, Ajinath; Paul, Sangeeta; Kumar, Roshan; Sharma, VikasThe incessant use of agrochemicals for improved soil fertility and plant productivity has caused negative environmental impacts, including contamination of soil, groundwater, and aquifers. Hence, eco-friendly methods of plant and soil nutrient management are required to maintain sustained crop productivity and ecological stability. Beneficial microbial inoculants are potential elements of such management approaches. With the latest studies, this chapter summarizes the efforts in using beneficial microbes including plant growth-promoting rhizobacteria and mycorrhizal fungi for improving plant growth and its nutritional quality in a sustained manner. Studies with many microbial inoculants have demonstrated their beneficial role in plant growth through effective root colonization and induction of plant growth support mechanisms. Direct plant growth support by root associated microbes is mediated through enhanced nutrient acquisition and hormonal activation. Numerous antifungal activities of microbes, associated with pathogen inhibition, are usually linked to providing superior plant growth. Some inoculants have been found useful in abiotic stress alleviation and nutritional fortification of edible crops. The use of modern scientific advances for improving performances of microbial inoculants under stressed agriculture is also gaining scientific attention. Overall, the exploitation of beneficial microorganisms and their useful interactions with plants offer promising and eco-friendly strategies in the development of organic agriculture globally. � 2021 Elsevier Inc. All rights reserved.Item Precisely designed oxazolonaphthoimidazo[1,2-a]pyridine-based sensor for the detection of Fe3+ and DCP with cell imaging application(Elsevier B.V., 2023-05-17T00:00:00) Kathuria, Vishal; Kiran; Rani, Payal; Mayank; Joshi, Gaurav; Kumar, Roshan; Sindhu, Jayant; Kumar, Parvin; Negi, Arvind; Kumar, SudhirTwo new turn-off fluorescent sensors (V3 and V4) presented in the article revealed the potential application for the precise detection of Fe3+ and diethylchlorophosphate (DCP). These sensors include oxazolonaphthoimidazo[1,2-a]pyridine scaffold integrated with anthracene and pyrene-based framework. This design has facilitated the twisted intramolecular charge transfer (TICT) and planarised intramolecular charge transfer (PLICT) mechanisms, which were confirmed using computational and photophysical studies. The V3 and V4 fluorescent probes were particularly sensitive and highly selective for detecting Fe3+ and DCP analytes. For Fe3+, V3 and V4 undergo turn-off mechanism with the detection limit of 14.1 and 4.5 nM, respectively. Intracellular detection of Fe3+ via confocal live cell imaging was also demonstrated, showing its application under intracellular conditions. Our experimental data revealed the promises of V3 and V4 for instantaneous, accurate and on-spot monitoring of Fe3+ and DCP, even in the presence of other interfering analytes. � 2023 Elsevier B.V.Item Precisely designed oxazolonaphthoimidazo[1,2-a]pyridine-based sensor for the detection of Fe3+ and DCP with cell imaging application(Elsevier B.V., 2023-05-17T00:00:00) Kathuria, Vishal; Kiran; Rani, Payal; Mayank; Joshi, Gaurav; Kumar, Roshan; Sindhu, Jayant; Kumar, Parvin; Negi, Arvind; Kumar, SudhirTwo new turn-off fluorescent sensors (V3 and V4) presented in the article revealed the potential application for the precise detection of Fe3+ and diethylchlorophosphate (DCP). These sensors include oxazolonaphthoimidazo[1,2-a]pyridine scaffold integrated with anthracene and pyrene-based framework. This design has facilitated the twisted intramolecular charge transfer (TICT) and planarised intramolecular charge transfer (PLICT) mechanisms, which were confirmed using computational and photophysical studies. The V3 and V4 fluorescent probes were particularly sensitive and highly selective for detecting Fe3+ and DCP analytes. For Fe3+, V3 and V4 undergo turn-off mechanism with the detection limit of 14.1 and 4.5 nM, respectively. Intracellular detection of Fe3+ via confocal live cell imaging was also demonstrated, showing its application under intracellular conditions. Our experimental data revealed the promises of V3 and V4 for instantaneous, accurate and on-spot monitoring of Fe3+ and DCP, even in the presence of other interfering analytes. � 2023 Elsevier B.V.