12 results match your criteria: "Manipal Center for Biotherapeutics Research[Affiliation]"
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.
View Article and Find Full Text PDFSci Rep
August 2024
Oblique Therapeutics AB, 41346, Gothenburg, Sweden.
Eur J Hum Genet
August 2024
Western Sydney Genetics Program, The Children's Hospital at Westmead, Westmead, NSW, Australia.
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.
View Article and Find Full Text PDFJ 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.
View Article and Find Full Text PDFClin Genet
June 2024
Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Eur J Hum Genet
October 2024
Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
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.
View Article and Find Full Text PDFCancer Biomark
December 2023
Mbiomics LLC, Lewes DE, USA.
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.
View Article and Find Full Text PDFInfect Agent Cancer
August 2023
Mbiomics LLC, 16192 Coastal Highway, Lewes, DE, 19958, USA.
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.
Immunopharmacol Immunotoxicol
December 2023
Manipal Center for Biotherapeutics Research, Manipal Academy of Higher Education, Manipal, Karnataka, India.
Clin Genet
March 2023
Suma Genomics Private Limited, Manipal Center for Biotherapeutics Research, Manipal Academy of Higher Education, Manipal, India.
Aging Cell
November 2022
Department of Medical Genetics, Manipal Academy of Higher Education, Kasturba Medical College, Manipal, Manipal, India.
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.
View Article and Find Full Text PDFJ Eur Acad Dermatol Venereol
September 2022
Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.
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.