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CRYGC gene
Known as:
CRYSTALLIN, GAMMA-3
, CRYG3
, CRYGC
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National Institutes of Health
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Related topics
Related topics
1 relation
gamma-Crystallins
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract
Jingyan Li
,
Yunji Leng
,
+5 authors
Lihua Cao
Orphanet Journal of Rare Diseases
2018
Corpus ID: 49302297
BackgroundPediatric cataract is a clinically and genetically heterogeneous disease which is a significant cause of lifelong…
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Highly Cited
2013
Highly Cited
2013
Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1
I. Prokudin
,
Cas Simons
,
+7 authors
R. Jamieson
European Journal of Human Genetics
2013
Corpus ID: 21919394
Developmental eye diseases, including cataract/microcornea, Peters anomaly and coloboma/microphthalmia/anophthalmia, are caused…
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2013
2013
Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing
Yukiko Kondo
,
H. Saitsu
,
+9 authors
N. Matsumoto
Molecular Vision
2013
Corpus ID: 5690958
Purpose Congenital cataract is one of the most frequent causes of visual impairment and childhood blindness. Approximately one…
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2012
2012
A nonsense mutation of CRYGC associated with autosomal dominant congenital nuclear cataracts and microcornea in a Chinese pedigree
Yuanyuan Guo
,
D. Su
,
+4 authors
Siquan Zhu
Molecular Vision
2012
Corpus ID: 6175609
Purpose To report the identification of a nonsense mutation in γC-crystallin (CRYGC) associated with autosomal dominant…
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2011
2011
Mutational screening of six genes in Chinese patients with congenital cataract and microcornea
Wenmin Sun
,
Xueshan Xiao
,
Shi-qiang Li
,
Xiangming Guo
,
Qingjiong Zhang
Molecular Vision
2011
Corpus ID: 8798773
Purpose To identify mutations in 6 genes of 9 Chinese families with congenital cataract and microcornea. Methods Nine unrelated…
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2011
2011
Mutation screening and genotype phenotype correlation of α-crystallin, γ-crystallin and GJA8 gene in congenital cataract
M. Kumar
,
T. Agarwal
,
+4 authors
R. Dada
Molecular Vision
2011
Corpus ID: 18874135
Purpose To screen α-crystallin (CRYAB), γ-crystallin (CRYGC and CRYGD), and Connexin 50 (Cx-50 or GJA8) genes in congenital…
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Highly Cited
2009
Highly Cited
2009
Mutation analysis of CRYAA, CRYGC, and CRYGD associated with autosomal dominant congenital cataract in Brazilian families
A. Santana
,
M. Waiswol
,
E. S. Arcieri
,
José Paulo Cabral de Vasconcellos
,
M. Barbosa de Melo
Molecular Vision
2009
Corpus ID: 9077822
Purpose Congenital cataracts are one of the most treatable causes of visual impairment and blindness during infancy…
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2009
2009
A novel nonsense mutation in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcornea
Lu Zhang
,
Song-bin Fu
,
Y. Ou
,
Tingting Zhao
,
Yunjuan Su
,
Ping Liu
Molecular Vision
2009
Corpus ID: 14202586
Purpose To report the identification of a novel nonsense mutation in CRYGC in a Chinese family with autosomal dominant congenital…
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2008
2008
A nonsense mutation in CRYGC associated with autosomal dominant congenital nuclear cataract in a Chinese family
K. Yao
,
C. Jin
,
+4 authors
X. Shentu
Molecular Vision
2008
Corpus ID: 7548756
Purpose To identify the genetic defect associated with autosomal dominant congenital nuclear cataract in a Chinese family…
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Highly Cited
1999
Highly Cited
1999
The gamma-crystallins and human cataracts: a puzzle made clearer.
E. Héon
,
M. Priston
,
+4 authors
F. Munier
American Journal of Human Genetics
1999
Corpus ID: 6934835
Despite the fact that cataracts constitute the leading cause of blindness worldwide, the mechanisms of lens opacification remain…
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