Investigating small extracellular vesicle miRNA as biomarkers for Alzheimer’s disease (2023)
Thesis
Aarons, T. (2023). Investigating small extracellular vesicle miRNA as biomarkers for Alzheimer’s disease. (Thesis). University of Salford

Alzheimer’s disease (AD) is the leading cause of dementia, a syndrome impacting over 900,000 people in the UK alone. There are currently no disease modifying treatments for AD, which is largely attributable to the heterogenous basis of the disease wh... Read More about Investigating small extracellular vesicle miRNA as biomarkers for Alzheimer’s disease.

Evaluation of small extracellular vesicular microRNAs as biomarkers for exposure of nicotine and E-liquids on human lung cells (2022)
Thesis
for exposure of nicotine and E-liquids on human lung cells. (Thesis). University of Salford

Nicotine intake and E-Cigarette or vaping product use-associated lung injury (EVALI) can cause pulmonary disease with damaging health effects. In this study, we explored miRNAs from small extracellular vesicles (sEVs) for nicotine and E-liquid-associ... Read More about Evaluation of small extracellular vesicular microRNAs as biomarkers for exposure of nicotine and E-liquids on human lung cells.

Investigation of de-novo copy number variants in patients with Autism Spectrum Disorder in Vietnam (2021)
Thesis
Bui, H. Investigation of de-novo copy number variants in patients with Autism Spectrum Disorder in Vietnam. (Thesis). University of Salford

Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a prevalence of approximately 1% children worldwide. ASD is characterized by deficits in social communication and interaction and the presence of restricted interests and repetitive... Read More about Investigation of de-novo copy number variants in patients with Autism Spectrum Disorder in Vietnam.

Genetic landscape of autism spectrum disorder in Vietnamese children (2020)
Journal Article
Tran, K., Le, V., Bui, H., Do, D., Ly, H., Nguyen, H., …Nguyen, L. (2020). Genetic landscape of autism spectrum disorder in Vietnamese children. Scientific reports, 10(1), 5034. https://doi.org/10.1038/s41598-020-61695-8

Autism spectrum disorder (ASD) is a complex disorder with an unclear aetiology and an estimated global prevalence of 1%. However, studies of ASD in the Vietnamese population are limited. Here, we first conducted whole exome sequencing (WES) of 100 ch... Read More about Genetic landscape of autism spectrum disorder in Vietnamese children.

Fusion transcripts in normal human cortex increase with age and show distinct genomic features for single cells and tissues (2020)
Journal Article
Mehani, B., Narta, K., Paul, D., Raj, A., Kumar, D., Sharma, A., …Mukhopadhyay, A. (2020). Fusion transcripts in normal human cortex increase with age and show distinct genomic features for single cells and tissues. Scientific reports, 10(1), 1368. https://doi.org/10.1038/s41598-020-58165-6

Fusion transcripts can contribute to diversity of molecular networks in the human cortex. In this study, we explored the occurrence of fusion transcripts in normal human cortex along with single neurons and astrocytes. We identified 1305 non-redundan... Read More about Fusion transcripts in normal human cortex increase with age and show distinct genomic features for single cells and tissues.

Novel internal regulators and candidate miRNAs within miR-379/miR-656 miRNA cluster can alter cellular phenotype of human glioblastoma (2018)
Journal Article
Nayak, S., Aich, M., Kumar, A., Sengupta, S., Bajad, P., Dhapola, P., …Sarkar, C. (2018). Novel internal regulators and candidate miRNAs within miR-379/miR-656 miRNA cluster can alter cellular phenotype of human glioblastoma. Scientific reports, 8(2018), #7673. https://doi.org/10.1038/s41598-018-26000-8

Clustered miRNAs can affect functioning of downstream pathways due to possible coordinated function. We
observed 78-88% of the miR-379/miR-656 cluster (C14MC) miRNAs were downregulated in three sub-types
of diffuse gliomas, which was also corrobora... Read More about Novel internal regulators and candidate miRNAs within miR-379/miR-656 miRNA cluster can alter cellular phenotype of human glioblastoma.

A-to-I editing in human miRNAs is enriched in seed sequence, influenced by sequence contexts and significantly hypoedited in glioblastoma multiforme (2017)
Journal Article
Paul, D., Sinha, A., Ray, A., Lal, M., Nayak, S., Sharma, A., …Mukhopadhyay, A. (2017). A-to-I editing in human miRNAs is enriched in seed sequence, influenced by sequence contexts and significantly hypoedited in glioblastoma multiforme. Scientific reports, 7(2466), https://doi.org/10.1038/s41598-017-02397-6

Editing in microRNAs, particularly in seed can significantly alter the choice of their target genes. We show that out of 13 different human tissues, different regions of brain showed higher adenosine to inosine (A-to-I) editing in mature miRNAs. Thes... Read More about A-to-I editing in human miRNAs is enriched in seed sequence, influenced by sequence contexts and significantly hypoedited in glioblastoma multiforme.

Human brain harbors single nucleotide somatic variations in functionally relevant genes possibly mediated by oxidative stress (2016)
Journal Article
Sharma, A., Ansan, A., Kumari, R., Pandey, R., Rehman, R., Mehani, B., …Mukhopadhyay, A. (2017). Human brain harbors single nucleotide somatic variations in functionally relevant genes possibly mediated by oxidative stress. F1000Research, 5, 2520. https://doi.org/10.12688/f1000research.9495.3

Somatic variation in DNA can cause cells to deviate from the preordained
genomic path in both disease and healthy conditions. Here, using exome
sequencing of paired tissue samples, we show that the normal human brain
harbors somatic single base va... Read More about Human brain harbors single nucleotide somatic variations in functionally relevant genes possibly mediated by oxidative stress.

TBK1 duplication is found in normal tension and not in high tension glaucoma patients of Indian origin (2016)
Journal Article
Kaurani, L., Vishal, M., Ray, J., Sen, A., Ray, K., & Mukhopadhyay, A. (2016). TBK1 duplication is found in normal tension and not in high tension glaucoma patients of Indian origin. Journal of Genetics, 95(2), 459-461. https://doi.org/10.1007/s12041-016-0637-y

Genetic association and stress mediated down-regulation in trabecular meshwork implicates MPP7 as a novel candidate gene in primary open angle glaucoma (2016)
Journal Article
Vishal, M., Sharma, A., Kaurani, L., Alfano, G., Mookerjee, S., Narta, K., …Mukhopadhyay, A. (2016). Genetic association and stress mediated down-regulation in trabecular meshwork implicates MPP7 as a novel candidate gene in primary open angle glaucoma. BMC Medical Genomics, 9(15), https://doi.org/10.1186/s12920-016-0177-6

Background: Glaucoma is the largest cause of irreversible blindness affecting more than 60 million people globally.
The disease is defined as a gradual loss of peripheral vision due to death of Retinal Ganglion Cells (RGC). The RGC death is largely... Read More about Genetic association and stress mediated down-regulation in trabecular meshwork implicates MPP7 as a novel candidate gene in primary open angle glaucoma.

Altered expression and editing of miRNA-100 regulates iTreg differentiation (2015)
Journal Article
Negi, V., Paul, D., Das, S., Bajpai, P., Singh, S., Mukhopadhyay, A., …Ghosh, B. (2015). Altered expression and editing of miRNA-100 regulates iTreg differentiation. Nucleic Acids Research, 43(16), 8057-8065. https://doi.org/10.1093/nar/gkv752

RNA editing ofmiRNAs, especially in the seed region,
adds another layer to miRNA mediated gene regulation
which can modify its targets, altering cellular signaling
involved in important processes such as differentiation.
In this study, we have ex... Read More about Altered expression and editing of miRNA-100 regulates iTreg differentiation.

Evaluation of genetic association of the INK4 locus with primary open angle glaucoma in East Indian population (2014)
Journal Article
angle glaucoma in East Indian population. Scientific reports, 4, 5115. https://doi.org/10.1038/srep05115

INK4 locus at chromosome 9p21 has been reported to be associated with primary open angle glaucoma (POAG) and its subtypes along with the associated optic disc parameters across the populations of European, Japanese and African ancestries. The locus e... Read More about Evaluation of genetic association of the INK4 locus with primary open angle glaucoma in East Indian population.

Gene-rich large deletions are overrepresented in POAG patients of Indian and Caucasian origins (2014)
Journal Article
Kaurani, L., Vishal, M., Kumar, D., Sharma, A., Mehani, B., Sharma, C., …Mukhopadhyay, A. (2014). Gene-rich large deletions are overrepresented in POAG patients of Indian and Caucasian origins. https://doi.org/10.1167/iovs.14-14339

PURPOSE:
Large copy number variations (CNV) can contribute to increased burden for neurodegenerative diseases. In this study, we analyzed the genome-wide burden of large CNVs > 100 kb in primary open angle glaucoma (POAG), a neurodegenerative diseas... Read More about Gene-rich large deletions are overrepresented in POAG patients of Indian and Caucasian origins.