| The Y46D Mutation Destabilizes Dense Packing of the Second Greek Key Pair of Human gammaC-Crystallin Causing Congenital Nuclear Cataracts. | The Y46D Mutation Destabilizes Dense Packing of the Second Greek Key Pair of Human γC-Crystallin Causing Congenital Nuclear Cataracts.
Vendra VPR, Ostrowski C, Clark R, Dyba M, Tarasov SG, Hejtmancik JF., Free PMC Article | 06/23/2023 |
| A novel CRYGC E128* mutation underlying an autosomal dominant nuclear cataract in a south Indian kindred. | A novel CRYGC E128* mutation underlying an autosomal dominant nuclear cataract in a south Indian kindred.
Kandaswamy DK, Vasantha K, Graw J, Santhiya ST. | 06/26/2021 |
| Cataract-causing mutations L45P and Y46D impair the thermal stability of gammaC-crystallin. | Cataract-causing mutations L45P and Y46D impair the thermal stability of γC-crystallin.
Fu C, Xu J, Yang X, Chen X, Yao K. | 05/29/2021 |
| Cataract-causing mutations L45P and Y46D promote gammaC-crystallin aggregation by disturbing hydrogen bonds network in the second Greek key motif. | Cataract-causing mutations L45P and Y46D promote γC-crystallin aggregation by disturbing hydrogen bonds network in the second Greek key motif.
Fu C, Xu J, Jia Z, Yao K, Chen X. | 04/24/2021 |
| Identification of a novel CRYGC exon 2 mutation in a pedigree affected with congenital cataracts | [Identification of a novel CRYGC mutation in a pedigree affected with congenital cataracts].
Zhang J, Sun D, Wang Y, Mu W, Peng Y, Mi D. | 09/14/2019 |
| Study identified eight different mutations in CRYGC associated with autosomal dominant congenital nuclear cataracts (ADCC) in a cohort of Chinese family and shows that CRYGC mutations are responsible for 4.1% of ADCC families in the cohort. The results expand the spectrum of CRYGC mutations as well as their associated phenotypes. | Novel mutations in CRYGC are associated with congenital cataracts in Chinese families.
Zhong Z, Wu Z, Han L, Chen J., Free PMC Article | 09/8/2018 |
| We examined a cohort of Chinese patients with congenital cataracts and studied the phenotypes and genotypes. Extralenticular abnormalities, such as microcornea and ocular coloboma, can also be found in patients with congenital cataracts. The phenotype of congenital cataracts associated with macular and optic disc coloboma was reported for the first time in this study. | Mutations in crystallin genes result in congenital cataract associated with other ocular abnormalities.
Sun Z, Zhou Q, Li H, Yang L, Wu S, Sui R., Free PMC Article | 05/26/2018 |
| the G129C mutation in gammaC-crystallin, which is associated with autosomal dominant congenital nuclear cataract, perturbed the unfolding process by promoting the accumulation of two distinct aggregation-prone intermediates under mild denaturing conditions. | Congenital Cataract-Causing Mutation G129C in γC-Crystallin Promotes the Accumulation of Two Distinct Unfolding Intermediates That Form Highly Toxic Aggregates.
Xi YB, Chen XJ, Zhao WJ, Yan YB. | 11/21/2015 |
| Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1. | Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.
Prokudin I, Simons C, Grigg JR, Storen R, Kumar V, Phua ZY, Smith J, Flaherty M, Davila S, Jamieson RV., Free PMC Article | 02/14/2015 |
| We confirm that congenital cataract is associated with a CRYGC gene mutation. | A CRYGC gene mutation associated with autosomal dominant pulverulent cataract.
González-Huerta LM, Messina-Baas O, Urueta H, Toral-López J, Cuevas-Covarrubias SA. | 11/2/2013 |
| identified a CRYAA mutation in family A and a CRYGC mutation in family B with congenital cataract | Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing.
Kondo Y, Saitsu H, Miyamoto T, Lee BJ, Nishiyama K, Nakashima M, Tsurusaki Y, Doi H, Miyake N, Kim JH, Yu YS, Matsumoto N., Free PMC Article | 09/7/2013 |
| A nonsense mutation c.471G>A in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcornea in a Chinese pedigree. | A nonsense mutation of CRYGC associated with autosomal dominant congenital nuclear cataracts and microcornea in a Chinese pedigree.
Guo Y, Su D, Li Q, Yang Z, Ma Z, Ma X, Zhu S., Free PMC Article | 12/22/2012 |
| Molecular modeling and spectroscopic studies indicated that the mutation impaired the tertiary structure of gamma C crystallin by modifying the H-bonding network in the C-terminal domain. | A novel mutation impairing the tertiary structure and stability of γC-crystallin (CRYGC) leads to cataract formation in humans and zebrafish lens.
Li XQ, Cai HC, Zhou SY, Yang JH, Xi YB, Gao XB, Zhao WJ, Li P, Zhao GY, Tong Y, Bao FC, Ma Y, Wang S, Yan YB, Lu CL, Ma X. | 05/19/2012 |
| Transgenic expression of mutant CRYGC5bpd gamma-crystallin at near-physiological levels causes lens opacities and fiber cell defects, confirming the pathogenicity of this mutation. | Overexpression of human γC-crystallin 5 bp duplication disrupts lens morphology in transgenic mice.
Ma Z, Yao W, Theendakara V, Chan CC, Wawrousek E, Hejtmancik JF., Free PMC Article | 09/17/2011 |
| Two novel nonsynonymous variations and four reported variations in CRYAB, CRYGC, CRYGD, and GJA8, were observed. | Mutation screening and genotype phenotype correlation of α-crystallin, γ-crystallin and GJA8 gene in congenital cataract.
Kumar M, Agarwal T, Khokhar S, Kumar M, Kaur P, Roy TS, Dada R., Free PMC Article | 06/18/2011 |
| Report a new nonsense mutation (Y56X) in CRYGD and a prev'ly reported missense mutation (R12C) in CRYAA associated with nuclear autosomal dominant congenital cataract in Brazilian families. A new polymorphism (S119S) in CRYGC was observed in one family. | Mutation analysis of CRYAA, CRYGC, and CRYGD associated with autosomal dominant congenital cataract in Brazilian families.
Santana A, Waiswol M, Arcieri ES, Cabral de Vasconcellos JP, Barbosa de Melo M., Free PMC Article | 01/21/2010 |
| Identification of a novel nonsense mutation in CRYGC in a Chinese family with autosomal dominant congenital nuclear cataracts and microcornea. | A novel nonsense mutation in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcornea.
Zhang L, Fu S, Ou Y, Zhao T, Su Y, Liu P., Free PMC Article | 01/21/2010 |
| This is the first case of phenotypic heterogeneity in the primary congenital cataract specifically associated with the R168W mutation in the CRYGC gene. | A family with autosomal dominant primary congenital cataract associated with a CRYGC mutation: evidence of clinical heterogeneity.
Gonzalez-Huerta LM, Messina-Baas OM, Cuevas-Covarrubias SA. | 01/21/2010 |
| the loss of interactions of T5P mutant of the gammaC-crystallin with other crystallins may play a larger role than the protection afforded by chaperone-like activity in Coppock-like cataract. | Interactions and chaperone function of alphaA-crystallin with T5P gammaC-crystallin mutant.
Liang JJ., Free PMC Article | 01/21/2010 |
| In gammaD-crystallin, methylation is exclusively at Cys 110, whereas in gammaC- and gammaB-crystallins, the principal methylation site is Cys 22 with minor methylation at Cys 79 | Methylation and carbamylation of human gamma-crystallins.
Lapko VN, Smith DL, Smith JB., Free PMC Article | 01/21/2010 |
| calculation of the standard free-energy by equilibrium unfolding transition in guanidine hydrochloride | Unfolding of human lens recombinant betaB2- and gammaC-crystallins.
Fu L, Liang JJ. | 01/21/2010 |
| The T5P mutation obviously changes conformation and decreases conformational stability. | Conformational change and destabilization of cataract gammaC-crystallin T5P mutant.
Fu L, Liang JJ. | 01/21/2010 |