Below are the most recent publications written about "Mental Retardation, X-Linked" by people in Profiles.
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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. Identification and characterization of a missense mutation in the O-linked ß-N-acetylglucosamine (O-GlcNAc) transferase gene that segregates with X-linked intellectual disability. J Biol Chem. 2017 05 26; 292(21):8948-8963.
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Peng Y, Norris J, Schwartz C, Alexov E. Revealing the Effects of Missense Mutations Causing Snyder-Robinson Syndrome on the Stability and Dimerization of Spermine Synthase. Int J Mol Sci. 2016 Jan 08; 17(1).
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Peng Y, Suryadi J, Yang Y, Kucukkal TG, Cao W, Alexov E. Mutations in the KDM5C ARID Domain and Their Plausible Association with Syndromic Claes-Jensen-Type Disease. Int J Mol Sci. 2015 Nov 13; 16(11):27270-87.
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Matheus MG, Lehman RK, Bonilha L, Holden KR. Redefining the Pediatric Phenotype of X-Linked Monocarboxylate Transporter 8 (MCT8) Deficiency: Implications for Diagnosis and Therapies. J Child Neurol. 2015 Oct; 30(12):1664-8.
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Zhang Z, Martiny V, Lagorce D, Ikeguchi Y, Alexov E, Miteva MA. Rational design of small-molecule stabilizers of spermine synthase dimer by virtual screening and free energy-based approach. PLoS One. 2014; 9(10):e110884.
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Zhang Z, Norris J, Kalscheuer V, Wood T, Wang L, Schwartz C, Alexov E, Van Esch H. A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome. Hum Mol Genet. 2013 Sep 15; 22(18):3789-97.
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Zhang Z, Zheng Y, Petukh M, Pegg A, Ikeguchi Y, Alexov E. Enhancing human spermine synthase activity by engineered mutations. PLoS Comput Biol. 2013; 9(2):e1002924.
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Zhang Z, Witham S, Petukh M, Moroy G, Miteva M, Ikeguchi Y, Alexov E. A rational free energy-based approach to understanding and targeting disease-causing missense mutations. J Am Med Inform Assoc. 2013 Jul-Aug; 20(4):643-51.
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Zhang Z, Teng S, Wang L, Schwartz CE, Alexov E. Computational analysis of missense mutations causing Snyder-Robinson syndrome. Hum Mutat. 2010 Sep; 31(9):1043-9.
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Rogers RC, Stevenson RE, Simensen RJ, Holden KR, Schwartz CE. Finding new etiologies of mental retardation and hypotonia: X marks the spot. Dev Med Child Neurol. 2008 Feb; 50(2):104-11.