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Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency.
Deshpande D, Gupta SK, Sarma AS, Ranganath P, Jain S JMN, Sheth J, Mistri M, Gupta N, Kabra M, Phadke SR, Girisha KM, Dua Puri R, Aggarwal S, Datar C, Mandal K, Tilak P, Muranjan M, Bijarnia-Mahay S, Rama Devi A R, Tayade NB, Ranjan A, Dalal AB. Deshpande D, et al. Among authors: ranjan a. Hum Mutat. 2021 Oct;42(10):1336-1350. doi: 10.1002/humu.24263. Epub 2021 Aug 3. Hum Mutat. 2021. PMID: 34273913
Deep intronic mutation in CRTAP results in unstable isoforms of the protein to induce type I collagen aggregation in a lethal type of osteogenesis imperfecta type VII.
Udupa P, Shrikondawar AN, Nayak SS, Shah H, Ranjan A, Girisha KM, Bhavani GS, Ghosh DK. Udupa P, et al. Among authors: ranjan a. Biochim Biophys Acta Mol Basis Dis. 2023 Aug;1869(6):166741. doi: 10.1016/j.bbadis.2023.166741. Epub 2023 May 3. Biochim Biophys Acta Mol Basis Dis. 2023. PMID: 37146916 Free PMC article.
Comparative analysis of iron regulated genes in mycobacteria.
Yellaboina S, Ranjan S, Vindal V, Ranjan A. Yellaboina S, et al. Among authors: ranjan s, ranjan a. FEBS Lett. 2006 May 15;580(11):2567-76. doi: 10.1016/j.febslet.2006.03.090. Epub 2006 Apr 12. FEBS Lett. 2006. PMID: 16631750 Free article.
884 results