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Select item 57578541.

Mutations in crystallin genes result in congenital cataract associated with other ocular abnormalities

Zixi Sun, Qi Zhou, Huajin Li, Lizhu Yang, Shijing Wu, Ruifang Sui

Mol Vis. 2017; 23: 977–986. Published online 2017 Dec 24.

PMCID:: PMC5757854

Abstract Article PDF–1.7M

Select item 54282702.

Novel mutations in CRYGC are associated with congenital cataracts in Chinese families

Zilin Zhong, Zehua Wu, Liyun Han, Jianjun Chen

Sci Rep. 2017; 7: 189. Published online 2017 Mar 15. doi: 10.1038/s41598-017-00318-1

PMCID:: PMC5428270

Abstract Article PDF–2.3M

Select item 40601183.

Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1

Ivan Prokudin, Cas Simons, John R Grigg, Rebecca Storen, Vikrant Kumar, Zai Y Phua, James Smith, Maree Flaherty, Sonia Davila, Robyn V Jamieson

Eur J Hum Genet. 2014 Jul; 22(7): 907–915. Published online 2013 Nov 27. doi: 10.1038/ejhg.2013.268

PMCID:: PMC4060118

Abstract Article PDF–648K

Select item 3678834.

Gamma-crystallins of the human eye lens: expression analysis of five members of the gene family.

S O Meakin, R P Du, L C Tsui, M L Breitman

Mol Cell Biol. 1987 Aug; 7(8): 2671–2679. doi: 10.1128/mcb.7.8.2671

PMCID:: PMC367883

Summary Page Browse PDF–1.9M

Select item 3042345.

A locus for a human hereditary cataract is closely linked to the gamma-crystallin gene family.

N H Lubsen, J H Renwick, L C Tsui, M L Breitman, J G Schoenmakers

Proc Natl Acad Sci U S A. 1987 Jan; 84(2): 489–492. doi: 10.1073/pnas.84.2.489

PMCID:: PMC304234

Summary Page Browse PDF–792K

Select item 67076156.

Mutation screening of crystallin genes in Chinese families with congenital cataracts

Jianfu Zhuang, Zongfu Cao, Yihua Zhu, Lijuan Liu, Yi Tong, Xiaole Chen, Yaduan Wang, Cailing Lu, Xu Ma, Juhua Yang

Mol Vis. 2019; 25: 427–437. Published online 2019 Aug 9.

PMCID:: PMC6707615

Abstract Article PDF–2.2M

Select item 48968347.

Distribution of gene mutations in sporadic congenital cataract in a Han Chinese population

Dan Li, Siying Wang, Hongfei Ye, Yating Tang, Xiaodi Qiu, Qi Fan, Xianfang Rong, Xin Liu, Yuhong Chen, Jin Yang, Yi Lu

Mol Vis. 2016; 22: 589–598. Published online 2016 Jun 8.

PMCID:: PMC4896834

Abstract Article PDF–1.1M

Select item 37969378.

Functional Analysis of HSF4 Mutations Found in Patients With Autosomal Recessive Congenital Cataracts

Kate Merath, Adam Ronchetti, Duska J. Sidjanin

Invest Ophthalmol Vis Sci. 2013 Oct; 54(10): 6646–6654. Published online 2013 Oct 11. doi: 10.1167/iovs.13-12283

PMCID:: PMC3796937

Abstract Article PDF–641K

Select item 36263759.

A novel connexin 50 gene (gap junction protein, alpha 8) mutation associated with congenital nuclear and zonular pulverulent cataract

Jinyu Li, Qiwei Wang, Qiuyue Fu, Yanan Zhu, Yi Zhai, Yinhui Yu, Kai Zhang, Ke Yao

Mol Vis. 2013; 19: 767–774. Published online 2013 Apr 5.

PMCID:: PMC3626375

Abstract Article PDF–1.5M

Select item 342557610.

Congenital polymorphic cataract associated with a G to A splice site mutation in the human beta-crystallin gene CRYβA3/A1

Yibo Yu, Jinyu Li, Jia Xu, Qiwei Wang, Yinhui Yu, Ke Yao

Mol Vis. 2012; 18: 2213–2220. Published online 2012 Aug 8.

PMCID:: PMC3425576

Abstract Article PDF–492K

Select item 334085611.

Epidemiology and molecular genetics of congenital cataracts

Jun Yi, Jun Yun, Zhi-Kui Li, Chang-Tai Xu, Bo-Rong Pan

Int J Ophthalmol. 2011; 4(4): 422–432. Published online 2011 Aug 18. doi: 10.3980/j.issn.2222-3959.2011.04.20

PMCID:: PMC3340856

Abstract Article PDF–3.1M

Select item 333903812.

A novel p.F206I mutation in Cx46 associated with autosomal dominant congenital cataract

Kai Jie Wang, Si Quan Zhu

Mol Vis. 2012; 18: 968–973. Published online 2012 Apr 18.

PMCID:: PMC3339038

Abstract Article PDF–1.1M

Select item 315678113.

A G→T splice site mutation of CRYBA1/A3 associated with autosomal dominant suture cataracts in a Chinese family

Zhenfei Yang, Qian Li, Zicheng Ma, Yuanyuan Guo, Siquan Zhu, Xu Ma

Mol Vis. 2011; 17: 2065–2071. Published online 2011 Aug 5.

PMCID:: PMC3156781

Abstract Article PDF–6.9M

Select item 302157714.

Characterization of a novel mutation in the CRYBB2 gene associated with autosomal dominant congenital posterior subcapsular cataract in a Chinese family

Ke Yao, Jinyu Li, Chongfei Jin, Wei Wang, Yanan Zhu, Xingchao Shentu, Qiwei Wang

Mol Vis. 2011; 17: 144–152. Published online 2011 Jan 13.

PMCID:: PMC3021577

Abstract Article PDF–741K

Select item 302157215.

A novel mutation in MIP associated with congenital nuclear cataract in a Chinese family

Kai Jie Wang, Sha Sha Li, Bo Yun, Wen Xian Ma, Tian Ge Jiang, Si Quan Zhu

Mol Vis. 2011; 17: 70–77. Published online 2011 Jan 8.

PMCID:: PMC3021572

Abstract Article PDF–2.1M

Select item 272271116.

A novel γD-crystallin mutation causes mild changes in protein properties but leads to congenital coralliform cataract

Li-Yun Zhang, Bo Gong, Jian-Ping Tong, Dorothy Shu-Ping Fan, Sylvia Wai-Yee Chiang, Dinghua Lou, Dennis Shun-Chiu Lam, Gary Hin-Fai Yam, Chi-Pui Pang

Mol Vis. 2009; 15: 1521–1529. Published online 2009 Aug 6.

PMCID:: PMC2722711

Abstract Article PDF–3.5M

Select item 253303717.

Evaluation of three canine γ-crystallins (CRYGB, CRYGC, and CRYGS) as candidates for hereditary cataracts in the dachshund

Christina Müller, Anne Wöhlke, Ottmar Distl

Mol Vis. 2007; 13: 125–132. Published online 2007 Jan 31.

PMCID:: PMC2533037

Abstract Article PDF–310K

Select item 243516118.

A mutation in GJA8 (p.P88Q) is associated with “balloon-like” cataract with Y-sutural opacities in a family of Indian origin

Vanita Vanita, Jai Rup Singh, Daljit Singh, Raymonda Varon, Karl Sperling

Mol Vis. 2008; 14: 1171–1175. Published online 2008 Jun 17.

PMCID:: PMC2435161

Abstract Article PDF–1.8M

Select item 228848719.

Congenital Cataracts and their Molecular Genetics

J. Fielding Hejtmancik

Semin Cell Dev Biol. Author manuscript; available in PMC 2009 Apr 1.

Published in final edited form as: Semin Cell Dev Biol. 2008 Apr; 19(2): 134–149. Published online 2007 Oct 10. doi: 10.1016/j.semcdb.2007.10.003

PMCID:: PMC2288487

Abstract Article PDF–611K

Select item 180377220.

A dynamic model of gene expression in monocytes reveals differences in immediate/early response genes between adult and neonatal cells

Shelley Lawrence, Yuhong Tang, M Barton Frank, Igor Dozmorov, Kaiyu Jiang, Yanmin Chen, Craig Cadwell, Sean Turner, Michael Centola, James N Jarvis

J Inflamm (Lond) 2007; 4: 4. Published online 2007 Feb 16. doi: 10.1186/1476-9255-4-4

PMCID:: PMC1803772

Abstract Article PDF–1.7M

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UDP-N-acetyl-D-mannosamine dehydrogenase [Metapseudomonas boanensis]
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