Emil Alexov to Mental Retardation, X-Linked
This is a "connection" page, showing publications Emil Alexov has written about Mental Retardation, X-Linked.
Connection Strength
2.476
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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).
Score: 0.499
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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.
Score: 0.494
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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.
Score: 0.408
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In silico and in vitro investigations of the mutability of disease-causing missense mutation sites in spermine synthase. PLoS One. 2011; 6(5):e20373.
Score: 0.362
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Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy. Nat Commun. 2020 07 23; 11(1):3698.
Score: 0.171
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Identification and characterization of a missense mutation in the O-linked ?-N-acetylglucosamine (O-GlcNAc) transferase gene that segregates with X-linked intellectual disability. J Biol Chem. 2017 05 26; 292(21):8948-8963.
Score: 0.135
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Rational design of small-molecule stabilizers of spermine synthase dimer by virtual screening and free energy-based approach. PLoS One. 2014; 9(10):e110884.
Score: 0.115
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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.
Score: 0.104
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Enhancing human spermine synthase activity by engineered mutations. PLoS Comput Biol. 2013; 9(2):e1002924.
Score: 0.102
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Computational analysis of missense mutations causing Snyder-Robinson syndrome. Hum Mutat. 2010 Sep; 31(9):1043-9.
Score: 0.086