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Identification and characterization of a missense mutation in the O-linked β-N-acetylglucosamine (O-GlcNAc) transferase gene that segregates with X-linked intellectual disability.
Vaidyanathan K, Niranjan T, Selvan N, Teo CF, May M, Patel S, Weatherly B, Skinner C, Opitz J, Carey J, Viskochil D, Gecz J, Shaw M, Peng Y, Alexov E, Wang T, Schwartz C, Wells L. Vaidyanathan K, et al. Among authors: niranjan t. J Biol Chem. 2017 May 26;292(21):8948-8963. doi: 10.1074/jbc.M116.771030. Epub 2017 Mar 16. J Biol Chem. 2017. PMID: 28302723 Free PMC article.
Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders.
Srivastava S, Niranjan T, May MM, Tarpey P, Allen W, Hackett A, Jouk PS, Raymond L, Briault S, Skinner C, Toutain A, Gecz J, Heath W, Stevenson RE, Schwartz CE, Wang T. Srivastava S, et al. Among authors: niranjan t. Mol Genet Genomic Med. 2019 Apr;7(4):e00569. doi: 10.1002/mgg3.569. Epub 2019 Feb 6. Mol Genet Genomic Med. 2019. PMID: 30729724 Free PMC article.
ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons.
May M, Hwang KS, Miles J, Williams C, Niranjan T, Kahler SG, Chiurazzi P, Steindl K, Van Der Spek PJ, Swagemakers S, Mueller J, Stefl S, Alexov E, Ryu JI, Choi JH, Kim HT, Tarpey P, Neri G, Holloway L, Skinner C, Stevenson RE, Dorsky RI, Wang T, Schwartz CE, Kim CH. May M, et al. Among authors: niranjan t. Hum Mol Genet. 2015 Sep 1;24(17):4848-61. doi: 10.1093/hmg/ddv208. Epub 2015 Jun 8. Hum Mol Genet. 2015. PMID: 26056227 Free PMC article.
Gain-of-function glutamate receptor interacting protein 1 variants alter GluA2 recycling and surface distribution in patients with autism.
Mejias R, Adamczyk A, Anggono V, Niranjan T, Thomas GM, Sharma K, Skinner C, Schwartz CE, Stevenson RE, Fallin MD, Kaufmann W, Pletnikov M, Valle D, Huganir RL, Wang T. Mejias R, et al. Among authors: niranjan t. Proc Natl Acad Sci U S A. 2011 Mar 22;108(12):4920-5. doi: 10.1073/pnas.1102233108. Epub 2011 Mar 7. Proc Natl Acad Sci U S A. 2011. PMID: 21383172 Free PMC article.
Mobile interspersed repeats are major structural variants in the human genome.
Huang CR, Schneider AM, Lu Y, Niranjan T, Shen P, Robinson MA, Steranka JP, Valle D, Civin CI, Wang T, Wheelan SJ, Ji H, Boeke JD, Burns KH. Huang CR, et al. Among authors: niranjan t. Cell. 2010 Jun 25;141(7):1171-82. doi: 10.1016/j.cell.2010.05.026. Cell. 2010. PMID: 20602999 Free PMC article.
23 results