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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2004 | 2 |
2009 | 1 |
2012 | 1 |
2024 | 0 |
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Page 1
A novel gammaD-crystallin mutation causes mild changes in protein properties but leads to congenital coralliform cataract.
Mol Vis. 2009 Aug 6;15:1521-9.
Mol Vis. 2009.
PMID: 19668596
Free PMC article.
R15S possessed similar properties to the wild type gammaD-crystallin, but its predicted increase of hydrophobicity and putative phosphorylation site could lead to protein aggregation, subsequently causing opacification in lens....
R15S possessed similar properties to the wild type gammaD-crystallin, but its predicted increase of hydrophobicity and putative phosp …
Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a Chinese family.
Zhang X, Wang L, Wang J, Dong B, Li Y.
Zhang X, et al.
Mol Vis. 2012;18:203-10. Epub 2012 Jan 25.
Mol Vis. 2012.
PMID: 22312188
Free PMC article.
Bioinformatics analysis was undergone by the Garnier-Osguthorpe-Robson (GOR) and the PolyPhen (polymorphism phenotyping) programs to predict the effect of variants detected on secondary structure and protein function of the GJA3 protein. ...This novel missense mutation co- …
Bioinformatics analysis was undergone by the Garnier-Osguthorpe-Robson (GOR) and the PolyPhen (polymorphism phenotyping) programs to pred …
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Autosomal dominant coralliform cataract related to a missense mutation of the gammaD-crystallin gene.
Xu WZ, Zheng S, Xu SJ, Huang W, Yao K, Zhang SZ.
Xu WZ, et al.
Chin Med J (Engl). 2004 May;117(5):727-32.
Chin Med J (Engl). 2004.
PMID: 15161542
Mutation analysis of candidate genes was performed by direct sequencing. Finally, a three-dimensional protein model was predicted using Swiss-Model (version 2.0). RESULTS: Eleven of the 23 examined individuals had congenital cataracts. ...
Mutation analysis of candidate genes was performed by direct sequencing. Finally, a three-dimensional protein model was predicted usi …
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A missense mutation in the gammaD crystallin gene (CRYGD) associated with autosomal dominant "coral-like" cataract linked to chromosome 2q.
Mackay DS, Andley UP, Shiels A.
Mackay DS, et al.
Mol Vis. 2004 Mar 17;10:155-62.
Mol Vis. 2004.
PMID: 15041957
Free article.
Sequencing of the CRYGA-CRYGD cluster identified a C->A transversion in exon 2 of CRYGD that was predicted to result in the non-conservative substitution of threonine for proline at amino-acid residue 23 (P23T) in the processed CRYGD protein. ...
Sequencing of the CRYGA-CRYGD cluster identified a C->A transversion in exon 2 of CRYGD that was predicted to result in the non-co …
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