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Year | Number of Results |
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2011 | 1 |
2014 | 1 |
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Increased hydrophobicity and decreased backbone flexibility explain the lower solubility of a cataract-linked mutant of γD-crystallin.
J Mol Biol. 2011 Sep 30;412(4):647-59. doi: 10.1016/j.jmb.2011.07.058. Epub 2011 Jul 30.
J Mol Biol. 2011.
PMID: 21827768
Free PMC article.
Cataract-associated P23T γD-crystallin retains a native-like fold in amorphous-looking aggregates formed at physiological pH.
Boatz JC, Whitley MJ, Li M, Gronenborn AM, van der Wel PCA.
Boatz JC, et al.
Nat Commun. 2017 May 5;8:15137. doi: 10.1038/ncomms15137.
Nat Commun. 2017.
PMID: 28474685
Free PMC article.
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Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGD associated with inherited cataract.
Mackay DS, Bennett TM, Culican SM, Shiels A.
Mackay DS, et al.
Hum Genomics. 2014 Nov 18;8(1):19. doi: 10.1186/s40246-014-0019-6.
Hum Genomics. 2014.
PMID: 25403472
Free PMC article.
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Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.
Ma AS, Grigg JR, Ho G, Prokudin I, Farnsworth E, Holman K, Cheng A, Billson FA, Martin F, Fraser C, Mowat D, Smith J, Christodoulou J, Flaherty M, Bennetts B, Jamieson RV.
Ma AS, et al.
Hum Mutat. 2016 Apr;37(4):371-84. doi: 10.1002/humu.22948. Epub 2016 Jan 14.
Hum Mutat. 2016.
PMID: 26694549
Free PMC article.
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