Sourabh Kosey
ISF College of Pharmacy, India
Publications
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Research Article
Genomic Architecture and Disease Implications of Human Chromosome 11: From β-Globin Regulation to 11q13 Oncogenic Amplification and use Meta-Analysis
Author(s): Sonu Kumar*, Krishna Singh Pal, Sourabh Kosey and Madhaw Dwivedi
Aim-To comprehensively characterise the structural, epigenetic, and functional genomic landscape of chromosome 11 and to elucidate its role in the pathogenesis of imprinting disorders, malignancies, neuropsychiatric conditions, metabolic dysregulation Objectives:1.To investigate imprinting control mechanisms at chromosome 11p15 and their contribution to disorders such as Beckwith–Wiedemann syndrome (BWS) and Silver–Russell syndrome (SRS). 2.To evaluate oncogenic amplification events at 11q13, particularly involving CCND1, and their role in tumorigenesis via cell-cycle dysregulation. 3.To analyze linkage disequilibrium-resolved variants in neuropsychiatric loci (DRD2, NCAM1, GRIK4) and their impact on neurotransmission pathways. 4.To examine coding and epigenetic alterations in metabolic genes (INS, KCNQ1, IGF2/H19) associated wit.. Read More»