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Peptidomimetics Therapeutics for Retinal Disease.
Parsons DE, Lee SH, Sun YJ, Velez G, Bassuk AG, Smith M, Mahajan VB. Parsons DE, et al. Among authors: mahajan vb. Biomolecules. 2021 Feb 24;11(3):339. doi: 10.3390/biom11030339. Biomolecules. 2021. PMID: 33668179 Free PMC article. Review.
Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles.
Darbro BW, Mahajan VB, Gakhar L, Skeie JM, Campbell E, Wu S, Bing X, Millen KJ, Dobyns WB, Kessler JA, Jalali A, Cremer J, Segre A, Manak JR, Aldinger KA, Suzuki S, Natsume N, Ono M, Hai HD, Viet le T, Loddo S, Valente EM, Bernardini L, Ghonge N, Ferguson PJ, Bassuk AG. Darbro BW, et al. Among authors: mahajan vb. Hum Mutat. 2013 Aug;34(8):1075-9. doi: 10.1002/humu.22351. Epub 2013 May 28. Hum Mutat. 2013. PMID: 23674478 Free PMC article.
PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders.
Paemka L, Mahajan VB, Skeie JM, Sowers LP, Ehaideb SN, Gonzalez-Alegre P, Sasaoka T, Tao H, Miyagi A, Ueno N, Takao K, Miyakawa T, Wu S, Darbro BW, Ferguson PJ, Pieper AA, Britt JK, Wemmie JA, Rudd DS, Wassink T, El-Shanti H, Mefford HC, Carvill GL, Manak JR, Bassuk AG. Paemka L, et al. Among authors: mahajan vb. PLoS One. 2013 Dec 3;8(12):e80737. doi: 10.1371/journal.pone.0080737. eCollection 2013. PLoS One. 2013. PMID: 24312498 Free PMC article.
A novel RPGR mutation masquerading as Stargardt disease.
Bassuk AG, Sujirakul T, Tsang SH, Mahajan VB. Bassuk AG, et al. Among authors: mahajan vb. Br J Ophthalmol. 2014 May;98(5):709-11. doi: 10.1136/bjophthalmol-2013-304822. Epub 2014 Jan 31. Br J Ophthalmol. 2014. PMID: 24489377 Free PMC article. No abstract available.
Defective motile cilia in Prickle2-deficient mice.
Sowers LP, Yin T, Mahajan VB, Bassuk AG. Sowers LP, et al. Among authors: mahajan vb. J Neurogenet. 2014 Mar-Jun;28(1-2):146-52. doi: 10.3109/01677063.2014.885966. Epub 2014 Apr 7. J Neurogenet. 2014. PMID: 24708399
Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase.
Paemka L, Mahajan VB, Ehaideb SN, Skeie JM, Tan MC, Wu S, Cox AJ, Sowers LP, Gecz J, Jolly L, Ferguson PJ, Darbro B, Schneider A, Scheffer IE, Carvill GL, Mefford HC, El-Shanti H, Wood SA, Manak JR, Bassuk AG. Paemka L, et al. Among authors: mahajan vb. PLoS Genet. 2015 Mar 12;11(3):e1005022. doi: 10.1371/journal.pgen.1005022. eCollection 2015 Mar. PLoS Genet. 2015. PMID: 25763846 Free PMC article.
223 results