12 results match your criteria: "Manipal Center for Biotherapeutics Research[Affiliation]"

Biological functions of extracellular vesicle double C2-like domain beta in cervical cancer.

Sci Rep

January 2025

Department of Cell and Molecular Biology, Manipal School of Life Sciences, Manipal Academy of Higher Education, Manipal, Karnataka, 576104, India.

Double C-2 Like Domain Beta (DOC2B) located at 17q13.3 prevents metastasis by senescence induction and epithelial to mesenchymal transition inhibition in cervical cancer (CC). The extracellular vesicle (EV) mediated trafficking of DOC2B and its impact on tumor suppressive activity are not investigated in CC.

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Article Synopsis
  • KRAS is a small GTPase that acts as a switch for cell signaling, and mutations in KRAS are linked to various cancers, notably pancreatic, lung, and colorectal cancers.
  • Recent efforts to target specific KRAS mutations, particularly G12C and G12D, have shown some success, but other mutations like G12V and G13D remain difficult to treat.
  • The study presents a new KRAS G13D conformer structure that could be targeted by a developed monoclonal antibody, which effectively inhibited KRAS signaling in cancer cells, suggesting a new avenue for therapeutic development against this mutation.
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The sodium-dependent multivitamin transporter encoded by SLC5A6 is responsible for uptake of biotin, pantothenic acid, and α-lipoic acid. Thirteen individuals from eight families are reported with pathogenic biallelic SLC5A6 variants. Phenotype ranges from multisystem metabolic disorder to childhood-onset peripheral motor neuropathy.

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An drug repurposing approach to identify HDAC1 inhibitors against glioblastoma.

J Biomol Struct Dyn

April 2024

Department of Pharmacology, Manipal College of Pharmaceutical Sciences, Manipal Academy of Higher Education, Manipal, Karnataka, India.

Despite considerable improvement in therapy and diagnosis, brain tumors remain a global public health concern. Among all brain tumors, 80% are due to Glioblastoma. The average survival rate of a patient once diagnosed with glioblastoma is 15 months.

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Article Synopsis
  • Advances in genomic technologies have improved the understanding of epilepsy's genetic factors, aiding in diagnosis, treatment, and genetic counseling for affected families.
  • In a study of 142 Indian families, 44% received a clear epilepsy syndrome diagnosis, with a significant portion linked to severe conditions like developmental epileptic encephalopathy.
  • A definitive molecular diagnosis was achieved in 52% of families, uncovering various genetic disorders and variants, many of which were novel and had notable implications for treatment and recurrence risk.
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The contribution of de novo variants as a cause of intellectual disability (ID) is well established in several cohorts reported from the developed world. However, the genetic landscape as well as the appropriate testing strategies for identification of de novo variants of these disorders remain largely unknown in low-and middle-income countries like India. In this study, we delineate the clinical and genotypic spectrum of 54 families (55 individuals) with syndromic ID harboring rare de novo variants.

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Aim: Esophageal Squamous Cell Carcinoma (ESCC) is a histological subtype of esophageal cancer that begins in the squamous cells in the esophagus. In only 19% of the ESCC-diagnosed patients, a five-year survival rate has been seen. This necessitates the identification of high-confidence biomarkers for early diagnosis, prognosis, and potential therapeutic targets for the mitigation of ESCC.

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Background: Esophageal squamous cell carcinoma (ESCC) has a poor prognosis and is one of the deadliest gastrointestinal malignancies. Despite numerous transcriptomics studies to understand its molecular basis, the impact of population-specific differences on this disease remains unexplored.

Aims: This study aimed to investigate the population-specific differences in gene expression patterns among ESCC samples obtained from six distinct global populations, identify differentially expressed genes (DEGs) and their associated pathways, and identify potential biomarkers for ESCC diagnosis and prognosis.

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Article Synopsis
  • The interest in mesenchymal stromal cell (MSC) therapy is growing for treating inflammatory diseases, but translating this research into clinical use faces challenges.
  • The MSC secretome, which includes bioactive factors and extracellular vesicles, is gaining attention as a promising cell-free therapeutic option because it retains the benefits of MSCs without needing live cells.
  • This review examines how the MSC secretome can act as an anti-inflammatory treatment and discusses its mechanisms and potential effectiveness.
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Deleterious, mostly de novo, mutations in the lamin A (LMNA) gene cause spatio-functional nuclear abnormalities that result in several laminopathy-associated progeroid conditions. In this study, exome sequencing in a sixteen-year-old male with manifestations of premature aging led to the identification of a mutation, c.784G>A, in LMNA, resulting in a missense protein variant, p.

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Background: Pathogenic variants in KITLG, a crucial protein involved in pigmentation and neural crest cell migration, cause non-syndromic hearing loss, Waardenburg syndrome type 2, familial progressive hyperpigmentation and familial progressive hyper- and hypopigmentation, all of which are inherited in an autosomal dominant manner.

Objectives: To describe the genotypic and clinical spectrum of biallelic KITLG-variants.

Methods: We used a genotype-first approach through the GeneMatcher data sharing platform to collect individuals with biallelic KITLG variants and reviewed the literature for overlapping reports.

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