Ramadesikan S - Search Results

1

Heterogeneity in Lowe Syndrome: Mutations Affecting the Phosphatase Domain of OCRL1 Differ in Impact on Enzymatic Activity and Severity of Cellular Phenotypes.

Lee JJ, Ramadesikan S, Black AF, Christoffer C, Pacheco AFP, Subramanian S, Hanna CB, Barth G, Stauffacher CV, Kihara D, Aguilar RC. Lee JJ, et al. Among authors: ramadesikan s. Biomolecules. 2023 Mar 29;13(4):615. doi: 10.3390/biom13040615. Biomolecules. 2023. PMID: 37189363 Free PMC article.

2

Role of Ocrl1 in primary cilia assembly.

Madhivanan K, Ramadesikan S, Aguilar RC. Madhivanan K, et al. Among authors: ramadesikan s. Int Rev Cell Mol Biol. 2015;317:331-47. doi: 10.1016/bs.ircmb.2015.02.003. Epub 2015 Mar 11. Int Rev Cell Mol Biol. 2015. PMID: 26008789 Review.

3

Lowe syndrome patient cells display mTOR- and RhoGTPase-dependent phenotypes alleviated by rapamycin and statins.

Madhivanan K, Ramadesikan S, Hsieh WC, Aguilar MC, Hanna CB, Bacallao RL, Aguilar RC. Madhivanan K, et al. Among authors: ramadesikan s. Hum Mol Genet. 2020 Jun 27;29(10):1700-1715. doi: 10.1093/hmg/ddaa086. Hum Mol Genet. 2020. PMID: 32391547 Free PMC article.

4

Genotype & phenotype in Lowe Syndrome: specific OCRL1 patient mutations differentially impact cellular phenotypes.

Ramadesikan S, Skiba L, Lee J, Madhivanan K, Sarkar D, De La Fuente A, Hanna CB, Terashi G, Hazbun T, Kihara D, Aguilar RC. Ramadesikan S, et al. Hum Mol Genet. 2021 Apr 26;30(3-4):198-212. doi: 10.1093/hmg/ddab025. Hum Mol Genet. 2021. PMID: 33517444 Free PMC article.

5

Kidney-differentiated cells derived from Lowe Syndrome patient's iPSCs show ciliogenesis defects and Six2 retention at the Golgi complex.

Hsieh WC, Ramadesikan S, Fekete D, Aguilar RC. Hsieh WC, et al. Among authors: ramadesikan s. PLoS One. 2018 Feb 14;13(2):e0192635. doi: 10.1371/journal.pone.0192635. eCollection 2018. PLoS One. 2018. PMID: 29444177 Free PMC article.

6

The Future of Genetic Disease Studies: Assembling an Updated Multidisciplinary Toolbox.

Ramadesikan S, Lee J, Aguilar RC. Ramadesikan S, et al. Front Cell Dev Biol. 2022 Apr 28;10:886448. doi: 10.3389/fcell.2022.886448. eCollection 2022. Front Cell Dev Biol. 2022. PMID: 35573700 Free PMC article. No abstract available.

7

A novel, safe, fast and efficient treatment for Her2-positive and negative bladder cancer utilizing an EGF-anthrax toxin chimera.

Jack S, Madhivanan K, Ramadesikan S, Subramanian S, Edwards DF 2nd, Elzey BD, Dhawan D, McCluskey A, Kischuk EM, Loftis AR, Truex N, Santos M, Lu M, Rabideau A, Pentelute B, Collier J, Kaimakliotis H, Koch M, Ratliff TL, Knapp DW, Aguilar RC. Jack S, et al. Among authors: ramadesikan s. Int J Cancer. 2020 Jan 15;146(2):449-460. doi: 10.1002/ijc.32719. Epub 2019 Nov 1. Int J Cancer. 2020. PMID: 31584195 Free PMC article.

8

Biallelic variants in HTRA2 cause 3-methylglutaconic aciduria mitochondrial disorder: case report and literature review.

Gurusamy U, Ramadesikan S, Marhabaie M, Colwell CM, Hunter JM, Leung ML, Mardis ER, White P, Manickam M, Wilson RK, Koboldt DC. Gurusamy U, et al. Among authors: ramadesikan s. Front Genet. 2024 Jan 18;14:1298574. doi: 10.3389/fgene.2023.1298574. eCollection 2023. Front Genet. 2024. PMID: 38304066 Free PMC article.

9

Novel inherited CDX2 variant segregating in a family with diverse congenital malformations of the genitourinary system.

Ramadesikan S, Colwell CM, Supinger R, Hunter J, Thomas J, Varga E, Mardis ER, Wood RJ, Koboldt DC. Ramadesikan S, et al. Cold Spring Harb Mol Case Stud. 2024 Jan 10;9(4):a006294. doi: 10.1101/mcs.a006294. Print 2023 Dec. Cold Spring Harb Mol Case Stud. 2024. PMID: 37816608 Free PMC article.

10

Cerebral organoids containing an AUTS2 missense variant model microcephaly.

Fair SR, Schwind W, Julian DL, Biel A, Guo G, Rutherford R, Ramadesikan S, Westfall J, Miller KE, Kararoudi MN, Hickey SE, Mosher TM, McBride KL, Neinast R, Fitch J, Lee DA, White P, Wilson RK, Bedrosian TA, Koboldt DC, Hester ME. Fair SR, et al. Among authors: ramadesikan s. Brain. 2023 Jan 5;146(1):387-404. doi: 10.1093/brain/awac244. Brain. 2023. PMID: 35802027 Free PMC article.

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