PMC Links for Nucleotide (Select 1519312799) - PMC

Select item 67426461.

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

Abstract Article PDF–1.2M

Select item 54773622.

Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract

Owen M Siggs, Shari Javadiyan, Shiwani Sharma, Emmanuelle Souzeau, Karen M Lower, Deepa A Taranath, Jo Black, John Pater, John G Willoughby, Kathryn P Burdon, Jamie E Craig

Eur J Hum Genet. 2017 Jun; 25(6): 711–718. Published online 2017 Mar 8. doi: 10.1038/ejhg.2017.33

PMCID:: PMC5477362

Abstract Article PDF–1.1M

Select item 44412153.

Widespread Macromolecular Interaction Perturbations in Human Genetic Disorders

Nidhi Sahni, Song Yi, Mikko Taipale, Juan I. Fuxman Bass, Jasmin Coulombe-Huntington, Fan Yang, Jian Peng, Jochen Weile, Georgios I. Karras, Yang Wang, István A. Kovács, Atanas Kamburov, Irina Krykbaeva, Mandy H. Lam, George Tucker, Vikram Khurana, Amitabh Sharma, Yang-Yu Liu, Nozomu Yachie, Quan Zhong, Yun Shen, Alexandre Palagi, Adriana San-Miguel, Changyu Fan, Dawit Balcha, Amelie Dricot, Daniel M. Jordan, Jennifer M. Walsh, Akash A. Shah, Xinping Yang, Ani Stoyanova, Alex Leighton, Michael A. Calderwood, Yves Jacob, Michael E. Cusick, Kourosh Salehi-Ashtiani, Luke J. Whitesell, Shamil Sunyaev, Bonnie Berger, Albert-László Barabási, Benoit Charloteaux, David E. Hill, Tong Hao, Frederick P. Roth, Yu Xia, Albertha J.M. Walhout, Susan Lindquist, Marc Vidal

Cell. Author manuscript; available in PMC 2016 Apr 23.

Published in final edited form as: Cell. 2015 Apr 23; 161(3): 647–660. doi: 10.1016/j.cell.2015.04.013

PMCID:: PMC4441215

Abstract Article PDF–1.2M

Select item 69595964.

In silico analysis and high-risk pathogenic phenotype predictions of non-synonymous single nucleotide polymorphisms in human Crystallin beta A4 gene associated with congenital cataract

Zhenyu Wang, Chen Huang, Huibin Lv, Mingzhou Zhang, Xuemin Li

PLoS One. 2020; 15(1): e0227859. Published online 2020 Jan 14. doi: 10.1371/journal.pone.0227859

PMCID:: PMC6959596

Abstract Article PDF–2.5M

Select item 67076155.

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

Abstract Article PDF–2.2M

Select item 48193096.

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

Abstract Article PDF–2.8M

Select item 41635427.

Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia

Brett Deml, Linda M. Reis, Mohit Maheshwari, Cristin Griffis, David Bick, Elena V. Semina

Clin Genet. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Clin Genet. 2014 Nov; 86(5): 475–481. Published online 2014 Apr 12. doi: 10.1111/cge.12379

PMCID:: PMC4163542

Abstract Article PDF–1.0M

Select item 33408568.

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

Abstract Article PDF–3.1M

Select item 30236539.

Gene expression in cardiac tissues from infants with idiopathic conotruncal defects

Douglas C Bittel, Merlin G Butler, Nataliya Kibiryeva, Jennifer A Marshall, Jie Chen, Gary K Lofland, James E O'Brien, Jr

BMC Med Genomics. 2011; 4: 1. Published online 2011 Jan 5. doi: 10.1186/1755-8794-4-1

PMCID:: PMC3023653

Abstract Article PDF–2.6M

Select item 289055510.

A missense mutation in CRYBA4 associated with congenital cataract and microcornea

Guangkai Zhou, Nan Zhou, Shanshan Hu, Liming Zhao, Chunmei Zhang, Yanhua Qi

Mol Vis. 2010; 16: 1019–1024. Published online 2010 Jun 5.

PMCID:: PMC2890555

Abstract Article PDF–3.0M

Select item 283140711.

Identification and functional clustering of global gene expression differences between human age-related cataract and clear lenses

John R. Hawse, James F. Hejtmancik, Quingling Huang, Nancy L. Sheets, Douglas A. Hosack, Richard A. Lempicki, Joseph Horwitz, Marc Kantorow

Mol Vis. Author manuscript; available in PMC 2010 Mar 3.

Published in final edited form as: Mol Vis. 2003 Oct 7; 9: 515–537. Published online 2003 Oct 7.

PMCID:: PMC2831407

Abstract Article PDF–1.2M

Select item 228848712.

Congenital Cataracts and their Molecular Genetics

J. Fielding Hejtmancik

Semin Cell Dev Biol. Author manuscript; available in PMC 2009 Apr 1.

Published in final edited form as: Semin Cell Dev Biol. 2008 Apr; 19(2): 134–149. Published online 2007 Oct 10. doi: 10.1016/j.semcdb.2007.10.003

PMCID:: PMC2288487

Abstract Article PDF–611K

Select item 159255413.

CRYBA4, a Novel Human Cataract Gene, Is Also Involved in Microphthalmia

Gail Billingsley, Sathiyavedu T. Santhiya, Andrew D. Paterson, Koji Ogata, Shoshana Wodak, S. Mohsen Hosseini, Shyam Manohar Manisastry, Perumalsamy Vijayalakshmi, Pudhiya Mundyat Gopinath, Jochen Graw, Elise Héon

Am J Hum Genet. 2006 Oct; 79(4): 702–709. Published online 2006 Aug 17. doi: 10.1086/507712

PMCID:: PMC1592554

Abstract Article PDF–2.1M

Select item 38510014.

A Nonsense Mutation in CRYBB1 Associated with Autosomal Dominant Cataract Linked to Human Chromosome 22q

Donna S. Mackay, Olivera B. Boskovska, Harry L. S. Knopf, Kirsten J. Lampi, Alan Shiels

Am J Hum Genet. 2002 Nov; 71(5): 1216–1221. Published online 2002 Oct 1. doi: 10.1086/344212

PMCID:: PMC385100

Abstract Article PDF–239K

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