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Literature DB >> 14693758

Understanding the molecular genetics of congenital cataract may have wider implications for age related cataract.

A T Moore.

Abstract

Entities: Disease

Mesh：

Substances：
Crystallins

Year: 2004 PMID： 14693758 PMCID： PMC1771955 DOI： 10.1136/bjo.88.1.2

Source DB: PubMed Journal: Br J Ophthalmol ISSN： 0007-1161 Impact factor: 4.638

× No keyword cloud information.

32 in total

Review 1. Alpha-crystallin.

Authors: Joseph Horwitz
Journal: Exp Eye Res Date: 2003-02 Impact factor: 3.467

2. Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract.

Authors: A V Polyakov; I A Shagina; O V Khlebnikova; O V Evgrafov
Journal: Clin Genet Date: 2001-12 Impact factor: 4.438

3. Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3).

Authors: M I Rees; P Watts; I Fenton; A Clarke; R G Snell; M J Owen; J Gray
Journal: Hum Genet Date: 2000-02 Impact factor: 4.132

4. A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family.

Authors: Eran Pras; Etgar Levy-Nissenbaum; Tangiz Bakhan; Hadas Lahat; Ehud Assia; Noa Geffen-Carmi; Moshe Frydman; Boleslaw Goldman; Elon Pras
Journal: Am J Hum Genet Date: 2002-03-26 Impact factor: 11.025

5. Crystal cataracts: human genetic cataract caused by protein crystallization.

Authors: A Pande; J Pande; N Asherie; A Lomakin; O Ogun; J King; G B Benedek
Journal: Proc Natl Acad Sci U S A Date: 2001-05-22 Impact factor: 11.205

6. A unique form of autosomal dominant cataract explained by gene conversion between beta-crystallin B2 and its pseudogene.

Authors: V Sarhadi; A Reis; M Jung; D Singh; K Sperling; J R Singh; J Bürger
Journal: J Med Genet Date: 2001-06 Impact factor: 6.318

7. A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family.

Authors: E Pras; M Frydman; E Levy-Nissenbaum; T Bakhan; J Raz; E I Assia; B Goldman; E Pras
Journal: Invest Ophthalmol Vis Sci Date: 2000-10 Impact factor: 4.799

8. A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q.

Authors: Donna S Mackay; Olivera B Boskovska; Harry L S Knopf; Kirsten J Lampi; Alan Shiels
Journal: Am J Hum Genet Date: 2002-10-01 Impact factor: 11.025

9. Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract.

Authors: Lei Bu; Yiping Jin; Yuefeng Shi; Renyuan Chu; Airong Ban; Hans Eiberg; Lisa Andres; Haisong Jiang; Guangyong Zheng; Meiqian Qian; Bin Cui; Yu Xia; Jing Liu; Landian Hu; Guoping Zhao; Michael R Hayden; Xiangyin Kong
Journal: Nat Genet Date: 2002-06-24 Impact factor: 38.330

10. Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma.

Authors: Robyn V Jamieson; Rahat Perveen; Bronwyn Kerr; Martin Carette; Jill Yardley; Elise Heon; M Gabriela Wirth; Veronica van Heyningen; Di Donnai; Francis Munier; Graeme C M Black
Journal: Hum Mol Genet Date: 2002-01-01 Impact factor: 6.150

13 in total

1. The effect of GSTT1, GSTM1 and GSTP1 gene polymorphisms on the susceptibility of age-related cataract in Chinese Han population.

Authors: Ruo Qi; Zhimin Gu; Lixiao Zhou
Journal: Int J Clin Exp Med Date: 2015-10-15

2. Segregation of a novel p.(Ser270Tyr) MAF mutation and p.(Tyr56∗) CRYGD variant in a family with dominantly inherited congenital cataracts.

Authors: Lubica Dudakova; Viktor Stranecky; Olga Ulmanova; Eva Hlavova; Marie Trková; Andrea L Vincent; Petra Liskova
Journal: Mol Biol Rep Date: 2017-08-28 Impact factor: 2.316

Understanding the molecular genetics of congenital cataract may have wider implications for age related cataract.

Review 1. Alpha-crystallin.

2. Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract.

3. Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3).

4. A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family.

5. Crystal cataracts: human genetic cataract caused by protein crystallization.

6. A unique form of autosomal dominant cataract explained by gene conversion between beta-crystallin B2 and its pseudogene.

7. A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family.

8. A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q.

9. Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract.

10. Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma.

1. The effect of GSTT1, GSTM1 and GSTP1 gene polymorphisms on the susceptibility of age-related cataract in Chinese Han population.

2. Segregation of a novel p.(Ser270Tyr) MAF mutation and p.(Tyr56∗) CRYGD variant in a family with dominantly inherited congenital cataracts.

3. Autophagy and UPR in alpha-crystallin mutant knock-in mouse models of hereditary cataracts.

4. Oxysterol Compounds in Mouse Mutant αA- and αB-Crystallin Lenses Can Improve the Optical Properties of the Lens.

Review 5. Cat-Map: putting cataract on the map.

6. p62 expression and autophagy in αB-crystallin R120G mutant knock-in mouse model of hereditary cataract.

7. Abnormal expression of collagen IV in lens activates unfolded protein response resulting in cataract.

8. A knock-in mouse model for the R120G mutation of αB-crystallin recapitulates human hereditary myopathy and cataracts.

9. Mutation analysis of congenital cataract in a Basotho family identified a new missense allele in CRYBB2.

10. Identification of a novel GJA8 (Cx50) point mutation causes human dominant congenital cataracts.