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Literature DB >> 9497271

The genetics of cataract: our vision becomes clearer.

J F Hejtmancik.

Abstract

Entities: Disease

Mesh：

Substances：
Crystallins

Year: 1998 PMID： 9497271 PMCID： PMC1376968 DOI： 10.1086/301774

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

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53 in total

1. Activation of the gamma E-crystallin pseudogene in the human hereditary Coppock-like cataract.

Authors: R H Brakenhoff; H A Henskens; M W van Rossum; N H Lubsen; J G Schoenmakers
Journal: Hum Mol Genet Date: 1994-02 Impact factor: 6.150

2. AIM1, a novel non-lens member of the betagamma-crystallin superfamily, is associated with the control of tumorigenicity in human malignant melanoma.

Authors: M E Ray; G Wistow; Y A Su; P S Meltzer; J M Trent
Journal: Proc Natl Acad Sci U S A Date: 1997-04-01 Impact factor: 11.205

3. Transgenic mice expressing IFN-gamma in the retina develop inflammation of the eye and photoreceptor loss.

Authors: K Geiger; E Howes; M Gallina; X J Huang; G H Travis; N Sarvetnick
Journal: Invest Ophthalmol Vis Sci Date: 1994-05 Impact factor: 4.799

4. A progressive early onset cataract gene maps to human chromosome 17q24.

Authors: M M Armitage; J D Kivlin; R E Ferrell
Journal: Nat Genet Date: 1995-01 Impact factor: 38.330

5. Autosomal dominant congenital cataract. Interocular phenotypic variability.

Authors: M H Scott; J F Hejtmancik; L A Wozencraft; L M Reuter; M M Parks; M I Kaiser-Kupfer
Journal: Ophthalmology Date: 1994-05 Impact factor: 12.079

6. Alpha-crystallin/small heat shock protein has autokinase activity.

Authors: M Kantorow; J Piatigorsky
Journal: Proc Natl Acad Sci U S A Date: 1994-04-12 Impact factor: 11.205

7. A dose-response effect between a sunlight index and age-related cataracts. Italian-American Cataract Study Group.

Authors: F Rosmini; M A Stazi; R C Milton; R D Sperduto; P Pasquini; G Maraini
Journal: Ann Epidemiol Date: 1994-07 Impact factor: 3.797

8. Induction of cataract-like changes in rat lens epithelial explants by transforming growth factor beta.

Authors: J Liu; A M Hales; C G Chamberlain; J W McAvoy
Journal: Invest Ophthalmol Vis Sci Date: 1994-02 Impact factor: 4.799

9. Oxidative damage to the eye lens caused by cigarette smoke and fuel smoke condensates.

Authors: V K Shalini; M Luthra; L Srinivas; S H Rao; S Basti; M Reddy; D Balasubramanian
Journal: Indian J Biochem Biophys Date: 1994-08 Impact factor: 1.918

10. Defective lens fiber differentiation and pancreatic tumorigenesis caused by ectopic expression of the cellular retinoic acid-binding protein I.

Authors: A V Perez-Castro; V T Tran; M C Nguyen-Huu
Journal: Development Date: 1993-10 Impact factor: 6.868

32 in total

Review 1. Molecular Genetics of Cataract.

Authors: Alan Shiels; J Fielding Hejtmancik
Journal: Prog Mol Biol Transl Sci Date: 2015-06-12 Impact factor: 3.622

The genetics of cataract: our vision becomes clearer.

1. Activation of the gamma E-crystallin pseudogene in the human hereditary Coppock-like cataract.

2. AIM1, a novel non-lens member of the betagamma-crystallin superfamily, is associated with the control of tumorigenicity in human malignant melanoma.

3. Transgenic mice expressing IFN-gamma in the retina develop inflammation of the eye and photoreceptor loss.

4. A progressive early onset cataract gene maps to human chromosome 17q24.

5. Autosomal dominant congenital cataract. Interocular phenotypic variability.

6. Alpha-crystallin/small heat shock protein has autokinase activity.

7. A dose-response effect between a sunlight index and age-related cataracts. Italian-American Cataract Study Group.

8. Induction of cataract-like changes in rat lens epithelial explants by transforming growth factor beta.

9. Oxidative damage to the eye lens caused by cigarette smoke and fuel smoke condensates.

10. Defective lens fiber differentiation and pancreatic tumorigenesis caused by ectopic expression of the cellular retinoic acid-binding protein I.

Review 1. Molecular Genetics of Cataract.

2. Molecular genetic analysis of autosomal dominant late-onset cataract in a Chinese Family.

3. Connexin46 mutations in autosomal dominant congenital cataract.

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

5. Temperature-Dependent Interactions Explain Normal and Inverted Solubility in a γD-Crystallin Mutant.

6. Molecular basis of a progressive juvenile-onset hereditary cataract.

7. Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts.

8. Vision impairment predicts five-year mortality.

9. Crystal structure of the cataract-causing P23T γD-crystallin mutant.

10. Methylation and carbamylation of human gamma-crystallins.