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Items: 1 to 20 of 28

1.
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations
Robert Fragoza, Jishnu Das, Shayne D. Wierbowski, Jin Liang, Tina N. Tran, Siqi Liang, Juan F. Beltran, Christen A. Rivera-Erick, Kaixiong Ye, Ting-Yi Wang, Li Yao, Matthew Mort, Peter D. Stenson, David N. Cooper, Xiaomu Wei, Alon Keinan, John C. Schimenti, Andrew G. Clark, Haiyuan Yu
Nat Commun. 2019; 10: 4141. Published online 2019 Sep 12. doi: 10.1038/s41467-019-11959-3
PMCID:
PMC6742646
AbstractArticlePDF–1.2M
2.
Structural and functional consequences of age-related isomerization in α-crystallins
Yana A. Lyon, Miranda P. Collier, Dylan L. Riggs, Matteo T. Degiacomi, Justin L. P. Benesch, Ryan R. Julian
J Biol Chem. 2019 May 10; 294(19): 7546–7555. Published online 2019 Feb 25. doi: 10.1074/jbc.RA118.007052
PMCID:
PMC6514633
AbstractArticlePDF–1.8M
3.
A novel mutation in the CRYAA gene associated with congenital cataract and microphthalmia in a Chinese family
Zixun Song, Nuo Si, Wei Xiao
BMC Med Genet. 2018; 19: 190. Published online 2018 Oct 19. doi: 10.1186/s12881-018-0695-5
PMCID:
PMC6194747
AbstractArticlePDF–1.1M
4.
Complicated paroxysmal kinesigenic dyskinesia associated with SACS mutations
Qiang Lu, Liang Shang, Wo Tu Tian, Li Cao, Xue Zhang, Qing Liu
Ann Transl Med. 2020 Jan; 8(1): 8. doi: 10.21037/atm.2019.11.31
PMCID:
PMC6995733
AbstractArticlePDF–1.1M
5.
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
AbstractArticlePDF–2.2M
6.
Deregulated microRNA and mRNA expression profiles in the peripheral blood of patients with Marfan syndrome
Masood Abu-Halima, Mustafa Kahraman, Dominic Henn, Tanja Rädle-Hurst, Andreas Keller, Hashim Abdul-Khaliq, Eckart Meese
J Transl Med. 2018; 16: 60. Published online 2018 Mar 12. doi: 10.1186/s12967-018-1429-3
PMCID:
PMC5848586
AbstractArticlePDF–1.0M
7.
Sertraline induces endoplasmic reticulum stress in hepatic cells
Si Chen, Jiekun Xuan, Letha Couch, Advait Iyer, Yuanfeng Wu, Quan-Zhen Li, Lei Guo
Toxicology. Author manuscript; available in PMC 2017 Dec 19.
Published in final edited form as: Toxicology. 2014 Aug 1; 322: 78–88. Published online 2014 May 24. doi: 10.1016/j.tox.2014.05.007
PMCID:
PMC5736318
AbstractArticlePDF–1.9M
8.
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
AbstractArticlePDF–1.1M
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.
Five small heat shock protein genes from Chilo suppressalis: characteristics of gene, genomic organization, structural analysis, and transcription profiles
Ming-Xing Lu, Jin Hua, Ya-Dong Cui, Yu-Zhou Du
Cell Stress Chaperones. 2014 Jan; 19(1): 91–104. Published online 2013 May 25. doi: 10.1007/s12192-013-0437-8
PMCID:
PMC3857428
AbstractArticlePDF–668K
11.
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
12.
Systematic Analysis of the Gene Expression in the Livers of Nonalcoholic Steatohepatitis: Implications on Potential Biomarkers and Molecular Pathological Mechanism
Yida Zhang, Susan S. Baker, Robert D. Baker, Ruixin Zhu, Lixin Zhu
PLoS One. 2012; 7(12): e51131. Published online 2012 Dec 26. doi: 10.1371/journal.pone.0051131
PMCID:
PMC3530598
AbstractArticlePDF–393K
13.
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
14.
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
15.
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
16.
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
17.
A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly
Lance Doucette, Jane Green, Bridget Fernandez, Gordon J Johnson, Patrick Parfrey, Terry-Lynn Young
Eur J Hum Genet. 2011 Mar; 19(3): 293–299. Published online 2010 Dec 8. doi: 10.1038/ejhg.2010.210
PMCID:
PMC3062009
AbstractArticlePDF–452K
18.
Ultraviolet B-induced expression of amphiregulin and growth differentiation factor 15 in human lens epithelial cells
Hiromi Osada, Yoshino Yoshitake, Takayuki Ikeda, Yasuhito Ishigaki, Takanobu Takata, Naohisa Tomosugi, Hiroshi Sasaki, Hideto Yonekura
Mol Vis. 2011; 17: 159–169. Published online 2011 Jan 13.
PMCID:
PMC3021579
AbstractArticlePDF–2.2M
19.
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
20.
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
AbstractArticlePDF–2.1M

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