C E Willoughby, Sara Arab, R Gandhi, S Zeinali, Seddigheh Arab, D Luk, G Billingsley, F L Munier, E Héon. J Med Genet 2003
Times Cited: 53
Times Cited: 53
Times Cited
Times Co-cited
Similarity
A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q.
A Shiels, D Mackay, A Ionides, V Berry, A Moore, S Bhattacharya. Am J Hum Genet 1998
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Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin.
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Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract.
A V Polyakov, I A Shagina, O V Khlebnikova, O V Evgrafov. Clin Genet 2001
A V Polyakov, I A Shagina, O V Khlebnikova, O V Evgrafov. Clin Genet 2001
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Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea.
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Connexin46 mutations in autosomal dominant congenital cataract.
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A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract.
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Targeted ablation of connexin50 in mice results in microphthalmia and zonular pulverulent cataracts.
T W White, D A Goodenough, D L Paul. J Cell Biol 1998
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A novel mutation in GJA3 (connexin46) for autosomal dominant congenital nuclear pulverulent cataract.
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A novel missense mutation in the gene for gap-junction protein alpha3 (GJA3) associated with autosomal dominant "nuclear punctate" cataracts linked to chromosome 13q.
Thomas M Bennett, Donna S Mackay, Harry L S Knopf, Alan Shiels. Mol Vis 2004
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A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts.
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Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3).
M I Rees, P Watts, I Fenton, A Clarke, R G Snell, M J Owen, J Gray. Hum Genet 2000
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Disruption of alpha3 connexin gene leads to proteolysis and cataractogenesis in mice.
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A novel mutation in GJA8 associated with autosomal dominant congenital cataract in a family of Indian origin.
Vanita Vanita, Hans Christian Hennies, Daljit Singh, Peter Nürnberg, Karl Sperling, Jai Rup Singh. Mol Vis 2006
Vanita Vanita, Hans Christian Hennies, Daljit Singh, Peter Nürnberg, Karl Sperling, Jai Rup Singh. Mol Vis 2006
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A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance.
K P Burdon, M G Wirth, D A Mackey, I M Russell-Eggitt, J E Craig, J E Elder, J L Dickinson, M M Sale. J Med Genet 2004
K P Burdon, M G Wirth, D A Mackey, I M Russell-Eggitt, J E Craig, J E Elder, J L Dickinson, M M Sale. J Med Genet 2004
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A Gja8 (Cx50) point mutation causes an alteration of alpha 3 connexin (Cx46) in semi-dominant cataracts of Lop10 mice.
Bo Chang, Xin Wang, Norman L Hawes, Ryan Ojakian, Muriel T Davisson, Woo-Kuen Lo, Xiaohua Gong. Hum Mol Genet 2002
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Molecular mechanism underlying a Cx50-linked congenital cataract.
J D Pal, V M Berthoud, E C Beyer, D Mackay, A Shiels, L Ebihara. Am J Physiol 1999
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A novel connexin46 (GJA3) mutation in autosomal dominant congenital nuclear pulverulent cataract.
Yang Li, Jun Wang, Bing Dong, Hong Man. Mol Vis 2004
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Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract.
Surya Prakash G Ponnam, Kekunnaya Ramesha, Sushma Tejwani, Balasubramanya Ramamurthy, Chitra Kannabiran. J Med Genet 2007
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32
A novel connexin 50 (GJA8) mutation in a Chinese family with a dominant congenital pulverulent nuclear cataract.
Ming Yan, Chenling Xiong, Shui Qing Ye, Yongmei Chen, Min Ke, Fang Zheng, Xin Zhou. Mol Vis 2008
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Mouse Cx50, a functional member of the connexin family of gap junction proteins, is the lens fiber protein MP70.
T W White, R Bruzzone, D A Goodenough, D L Paul. Mol Biol Cell 1992
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Connexin46, a novel lens gap junction protein, induces voltage-gated currents in nonjunctional plasma membrane of Xenopus oocytes.
D L Paul, L Ebihara, L J Takemoto, K I Swenson, D A Goodenough. J Cell Biol 1991
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Two novel mutations of connexin genes in Chinese families with autosomal dominant congenital nuclear cataract.
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Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.
Lars Hansen, Wenliang Yao, Hans Eiberg, Klaus Wilbrandt Kjaer, Kirsten Baggesen, J Fielding Hejtmancik, Thomas Rosenberg. Invest Ophthalmol Vis Sci 2007
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A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin.
Vanita Vanita, Jai Rup Singh, Daljit Singh, Raymonda Varon, Karl Sperling. Mol Vis 2008
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Molecular genetic basis of inherited cataract and associated phenotypes.
M Ashwin Reddy, Peter J Francis, Vanita Berry, Shomi S Bhattacharya, Anthony T Moore. Surv Ophthalmol 2004
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A mutation in the connexin 50 (Cx50) gene is a candidate for the No2 mouse cataract.
E C Steele, M F Lyon, J Favor, P V Guillot, Y Boyd, R L Church. Curr Eye Res 1998
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Disruption of Gja8 (alpha8 connexin) in mice leads to microphthalmia associated with retardation of lens growth and lens fiber maturation.
Pei Rong, Xin Wang, Ingrid Niesman, Ying Wu, Lucio E Benedetti, Irene Dunia, Esther Levy, Xiaohua Gong. Development 2002
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[A heterozygous transversion of connexin 50 in a family with congenital nuclear cataract in the northeast of China].
Jian-qiu Zheng, Zhi-wei Ma, Hui-min Sun. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2005
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Novel mutations in GJA3 associated with autosomal dominant congenital cataract in the Indian population.
Ramachandran Ramya Devi, Chandrashekar Reena, Perumalsamy Vijayalakshmi. Mol Vis 2005
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Characterization of a mouse Cx50 mutation associated with the No2 mouse cataract.
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The gamma-crystallins and human cataracts: a puzzle made clearer.
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The crystalline lens. A system networked by gap junctional intercellular communication.
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Loss of function and impaired degradation of a cataract-associated mutant connexin50.
Viviana M Berthoud, Peter J Minogue, Jun Guo, Edward K Williamson, Xiaorong Xu, Lisa Ebihara, Eric C Beyer. Eur J Cell Biol 2003
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22
A novel GJA8 mutation causing a recessive triangular cataract.
Werner Schmidt, Norman Klopp, Thomas Illig, Jochen Graw. Mol Vis 2008
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A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2.
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Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2.
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Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans.
H Sun, Z Ma, Y Li, B Liu, Z Li, X Ding, Y Gao, W Ma, X Tang, X Li,[...]. J Med Genet 2005
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20
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
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Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract.
Lei Bu, Yiping Jin, Yuefeng Shi, Renyuan Chu, Airong Ban, Hans Eiberg, Lisa Andres, Haisong Jiang, Guangyong Zheng, Meiqian Qian,[...]. Nat Genet 2002
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18
Characterization of a mutation in the lens-specific MP70 encoding gene of the mouse leading to a dominant cataract.
J Graw, J Löster, D Soewarto, H Fuchs, B Meyer, A Reis, E Wolf, R Balling, M Hrabé de Angelis. Exp Eye Res 2001
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22
Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q.
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Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA.
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Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans.
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Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families.
S Amer Riazuddin, Afshan Yasmeen, Wenliang Yao, Yuri V Sergeev, Qingjiong Zhang, Fareeha Zulfiqar, Assad Riaz, Sheikh Riazuddin, J Fielding Hejtmancik. Invest Ophthalmol Vis Sci 2005
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18
[A novel GJA8 mutation in a Chinese family with autosomal dominant congenital cataract].
Ying Lin, Ni-ni Liu, Chun-tao Lei, Ying-chuan Fan, Xiao-qi Liu, Yang Yang, Jun-fang Wang, Bing Liu, Zheng-lin Yang. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2008
Ying Lin, Ni-ni Liu, Chun-tao Lei, Ying-chuan Fan, Xiao-qi Liu, Yang Yang, Jun-fang Wang, Bing Liu, Zheng-lin Yang. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2008
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Link between a novel human gammaD-crystallin allele and a unique cataract phenotype explained by protein crystallography.
S Kmoch, J Brynda, B Asfaw, K Bezouska, P Novák, P Rezácová, L Ondrová, M Filipec, J Sedlácek, M Elleder. Hum Mol Genet 2000
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16
Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts.
E Nandrot, C Slingsby, A Basak, M Cherif-Chefchaouni, B Benazzouz, Y Hajaji, S Boutayeb, O Gribouval, L Arbogast, A Berraho,[...]. J Med Genet 2003
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16
Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.