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dc.contributor.authorZaka, Ayeshaen_US
dc.contributor.authorYousaf, Mahaen_US
dc.contributor.authorShahzad, Shaheenen_US
dc.contributor.authorRao, Hadi Zahiden_US
dc.contributor.authorFoo, Jia Neeen_US
dc.contributor.authorSiddiqi, Saimaen_US
dc.identifier.citationZaka, A., Yousaf, M., Shahzad, S., Rao, H. Z., Foo, J. N. & Siddiqi, S. (2023). Structural and functional insights into a novel homozygous missense pathogenic variant in CUL7 identified in consanguineous Pakistani family. Journal of Biomolecular Structure & Dynamics.
dc.description.abstract3M syndrome is a rare genetic familial disorder characterized by short stature, growth retardation, facial dysmorphism, skeletal abnormalities, fleshy protruding heels, and normal intelligence, caused by mutations in the CUL7, OBSL1 and CCDC8 genes. In the present study, a novel homozygous missense variant of CUL7 (NP_001161842.1, c.4493T > C, p.L1498P) has been identified in a consanguineous Pakistani family by whole exome sequencing. In silico structural evaluation, molecular docking and simulation studies of mutant CUL7 provides substantial evidence about its crucial role in the progression of discussed ailment. The newly discovered variant significantly altered the protein's three dimensional structure, leading to abnormal interaction with binding proteins. This computational and experimental investigation provides useful information to drug developers for the synthesis of novel therapeutics against the discussed ailment.Communicated by Ramaswamy H. Sarma.en_US
dc.relation.ispartofJournal of Biomolecular Structure & Dynamicsen_US
dc.rights© 2023 Informa UK Limited, trading as Taylor & Francis Group. All rights reserved.en_US
dc.titleStructural and functional insights into a novel homozygous missense pathogenic variant in CUL7 identified in consanguineous Pakistani familyen_US
dc.typeJournal Articleen
dc.contributor.schoolLee Kong Chian School of Medicine (LKCMedicine)en_US
dc.subject.keywordsSkeletal Dysplasiaen_US
dc.subject.keywordsExome Sequencingen_US
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Appears in Collections:LKCMedicine Journal Articles

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