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Items: 1 to 20 of 26

1.
Analysis of the dominant mutation N188T of human connexin46 (hCx46) using concatenation and molecular dynamics simulation
Patrik Schadzek, Yannick Stahl, Matthias Preller, Anaclet Ngezahayo
FEBS Open Bio. 2019 May; 9(5): 840–850. Published online 2019 Mar 23. doi: 10.1002/2211-5463.12624
PMCID:
PMC6487695
AbstractArticlePDF–1.2M
2.
Structure of native lens connexin-46/50 intercellular channels by CryoEM
Janette B. Myers, Bassam G. Haddad, Susan E. O’Neill, Dror S. Chorev, Craig C. Yoshioka, Carol V. Robinson, Daniel M. Zuckerman, Steve L. Reichow
Nature. Author manuscript; available in PMC 2019 Jun 12.
Published in final edited form as: Nature. 2018 Dec; 564(7736): 372–377. Published online 2018 Dec 12. doi: 10.1038/s41586-018-0786-7
PMCID:
PMC6309215
AbstractArticlePDF–7.8M
3.
Whole-genome sequencing reveals a recurrent missense mutation in the Connexin 46 (GJA3) gene causing autosomal-dominant lamellar cataract
Vanita Berry, Alexander C. W. Ionides, Nikolas Pontikos, Ismail Moghul, Anthony T. Moore, Michael E. Cheetham, Michel Michaelides
Eye (Lond) 2018 Oct; 32(10): 1661–1668. Published online 2018 Jun 22. doi: 10.1038/s41433-018-0154-8
PMCID:
PMC6189195
AbstractArticlePDF–1.0M
4.
Cataract-associated connexin 46 mutation alters its interaction with calmodulin and function of hemichannels
Zhengping Hu, Manuel A. Riquelme, Bin Wang, Vladislav Bugay, Robert Brenner, Sumin Gu, Jean X. Jiang
J Biol Chem. 2018 Feb 16; 293(7): 2573–2585. Published online 2018 Jan 3. doi: 10.1074/jbc.RA117.001348
PMCID:
PMC5818178
AbstractArticlePDF–2.4M
5.
A new locus for dominant "zonular pulverulent" cataract, on chromosome 13.
D Mackay, A Ionides, V Berry, A Moore, S Bhattacharya, A Shiels
Am J Hum Genet. 1997 Jun; 60(6): 1474–1478. doi: 10.1086/515468
PMCID:
PMC1716126
SummaryPage BrowsePDF–842K
6.
Delineation of Novel Autosomal Recessive Mutation in GJA3 and Autosomal Dominant Mutations in GJA8 in Pakistani Congenital Cataract Families
Shazia Micheal, Ilse Therésia Gabriëla Niewold, Sorath Noorani Siddiqui, Saemah Nuzhat Zafar, Muhammad Imran Khan, Arthur A. B. Bergen
Genes (Basel) 2018 Feb; 9(2): 112. Published online 2018 Feb 20. doi: 10.3390/genes9020112
PMCID:
PMC5852608
AbstractArticlePDF–3.3M
7.
Comparative gene expression study and pathway analysis of the human iris- and the retinal pigment epithelium
Anna Bennis, Jacoline B. ten Brink, Perry D. Moerland, Vivi M. Heine, Arthur A. Bergen
PLoS One. 2017; 12(8): e0182983. Published online 2017 Aug 21. doi: 10.1371/journal.pone.0182983
PMCID:
PMC5565104
AbstractArticlePDF–3.8M
8.
Further evidence for P59L mutation in GJA3 associated with autosomal dominant congenital cataract
Li Wang, Yuhong Chen, Xueli Chen, Xinghuai Sun
Indian J Ophthalmol. 2016 Jul; 64(7): 508–512. doi: 10.4103/0301-4738.190139
PMCID:
PMC5026076
AbstractArticlePDF–896K
9.
Targeted Genes Sequencing Identified a Novel 15 bp Deletion on GJA8 in a Chinese Family with Autosomal Dominant Congenital Cataracts
Han-Yi Min, Peng-Peng Qiao, Asan, Zhi-Hui Yan, Hui-Feng Jiang, Ya-Ping Zhu, Hui-Qian Du, Qin Li, Jia-Wei Wang, Jie Zhang, Jun Sun, Xin Yi, Ling Yang
Chin Med J (Engl) 2016 Apr 5; 129(7): 860–867. doi: 10.4103/0366-6999.178966
PMCID:
PMC4819309
AbstractArticlePDF–2.8M
10.
LIN28B suppresses microRNA let-7b expression to promote CD44+/LIN28B+ human pancreatic cancer stem cell proliferation and invasion
Yebo Shao, Lei Zhang, Lei Cui, Wenhui Lou, Dansong Wang, Weiqi Lu, Dayong Jin, Te Liu
Am J Cancer Res. 2015; 5(9): 2643–2659. Published online 2015 Aug 15.
PMCID:
PMC4633895
AbstractArticlePDF–1.9M
11.
Identification of a Novel GJA8 (Cx50) Point Mutation Causes Human Dominant Congenital Cataracts
Xiang-Lian Ge, Yilan Zhang, Yaming Wu, Jineng LV, Wei Zhang, Zi-Bing Jin, Jia Qu, Feng Gu
Sci Rep. 2014; 4: 4121. Published online 2014 Feb 18. doi: 10.1038/srep04121
PMCID:
PMC3927206
AbstractArticlePDF–2.5M
12.
Transcriptomes of the major human pancreatic cell types
C. Dorrell, J. Schug, C. F. Lin, P. S. Canaday, A. J. Fox, O. Smirnova, R. Bonnah, P. R. Streeter, C. J. Stoeckert, Jr, K. H. Kaestner, M. Grompe
Diabetologia. Author manuscript; available in PMC 2014 Jan 3.
Published in final edited form as: Diabetologia. 2011 Nov; 54(11): 10.1007/s00125-011-2283-5. Published online 2011 Sep 1. doi: 10.1007/s00125-011-2283-5
Correction in:
volume 56 on page 1192
PMCID:
PMC3880150
AbstractArticlePDF–791K
13.
MMP-9 and CXCL8/IL-8 Are Potential Therapeutic Targets in Epidermolysis Bullosa Simplex
Thomas Lettner, Roland Lang, Alfred Klausegger, Stefan Hainzl, Johann W. Bauer, Verena Wally
PLoS One. 2013; 8(7): e70123. Published online 2013 Jul 19. doi: 10.1371/journal.pone.0070123
PMCID:
PMC3716611
AbstractArticlePDF–1.1M
14.
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
AbstractArticlePDF–1.5M
15.
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
AbstractArticlePDF–492K
16.
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
AbstractArticlePDF–3.1M
17.
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
AbstractArticlePDF–1.1M
18.
A network biology approach evaluating the anticancer effects of bortezomib identifies SPARC as a therapeutic target in adult T-cell leukemia cells
Junko H Ohyashiki, Ryoko Hamamura, Chiaki Kobayashi, Yu Zhang, Kazuma Ohyashiki
Adv Appl Bioinforma Chem. 2008; 1: 85–98. Published online 2008 Oct 30. doi: 10.2147/aabc.s4133
PMCID:
PMC3169936
AbstractArticlePDF–1.6M
19.
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
AbstractArticlePDF–6.9M
20.
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
AbstractArticlePDF–741K

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