Literature DB >> 12011157

Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts.

S T Santhiya, M Shyam Manohar, D Rawlley, P Vijayalakshmi, P Namperumalsamy, P M Gopinath, J Löster, J Graw.   

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Year:  2002        PMID： 12011157      PMCID： PMC1735119          DOI： 10.1136/jmg.39.5.352

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  65 in total

1.  A missense mutation in CRYGD linked with autosomal dominant congenital cataract of aculeiform type.

Authors:  Vanita Vanita; Daljit Singh
Journal:  Mol Cell Biochem       Date:  2012-06-06       Impact factor: 3.396

2.  Autosomal recessive juvenile onset cataract associated with mutation in BFSP1.

Authors:  Ramya Devi Ramachandran; Vijayalakshmi Perumalsamy; J Fielding Hejtmancik
Journal:  Hum Genet       Date:  2007-01-16       Impact factor: 4.132

3.  Racemization of two proteins over our lifespan: deamidation of asparagine 76 in γS crystallin is greater in cataract than in normal lenses across the age range.

Authors:  Michelle Yu Sung Hooi; Mark J Raftery; Roger John Willis Truscott
Journal:  Invest Ophthalmol Vis Sci       Date:  2012-06-14       Impact factor: 4.799

4.  Folding and stability of the isolated Greek key domains of the long-lived human lens proteins gammaD-crystallin and gammaS-crystallin.

Authors:  Ishara A Mills; Shannon L Flaugh; Melissa S Kosinski-Collins; Jonathan A King
Journal:  Protein Sci       Date:  2007-09-28       Impact factor: 6.725

5.  Amyloid fiber formation in human γD-Crystallin induced by UV-B photodamage.

Authors:  Sean D Moran; Tianqi O Zhang; Sean M Decatur; Martin T Zanni
Journal:  Biochemistry       Date:  2013-08-29       Impact factor: 3.162

Review 6.  Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.

Authors:  Olga Messina-Baas; Sergio A Cuevas-Covarrubias
Journal:  Mol Syndromol       Date:  2017-02-07

7.  Altered phase diagram due to a single point mutation in human gammaD-crystallin.

Authors:  Jennifer J McManus; Aleksey Lomakin; Olutayo Ogun; Ajay Pande; Markus Basan; Jayanti Pande; George B Benedek
Journal:  Proc Natl Acad Sci U S A       Date:  2007-10-08       Impact factor: 11.205

8.  Interactions and chaperone function of alphaA-crystallin with T5P gammaC-crystallin mutant.

Authors:  Jack J-N Liang
Journal:  Protein Sci       Date:  2004-09       Impact factor: 6.725

9.  Founder heterozygous P23T CRYGD mutation associated with cerulean (and coralliform) cataract in 2 Saudi families.

Authors:  Arif O Khan; Mohammed A Aldahmesh; Faisal E Ghadhfan; Saleh Al-Mesfer; Fowzan S Alkuraya
Journal:  Mol Vis       Date:  2009-07-24       Impact factor: 2.367

10.  Mutation analysis in a German family identified a new cataract-causing allele in the CRYBB2 gene.

Authors:  Silke Pauli; Torben Söker; Norman Klopp; Thomas Illig; Wolfgang Engel; Jochen Graw
Journal:  Mol Vis       Date:  2007-06-19       Impact factor: 2.367
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