PMC Links for Nucleotide (Select 1653961782) - 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 55316112.

Architecture of the human interactome defines protein communities and disease networks

Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper

Nature. Author manuscript; available in PMC 2017 Nov 17.

Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366

PMCID:: PMC5531611

Abstract Article PDF–2.7M

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 22908754.

The 47-kD lens-specific protein phakinin is a tailless intermediate filament protein and an assembly partner of filensin

J Cell Biol. 1993 Dec 2; 123(6): 1507–1516. doi: 10.1083/jcb.123.6.1507

PMCID:: PMC2290875

Summary PDF–3.5M

Select item 12882095.

A Juvenile-Onset, Progressive Cataract Locus on Chromosome 3q21-q22 Is Associated with a Missense Mutation in the Beaded Filament Structural Protein–2

Yvette P. Conley, Deniz Erturk, Andrew Keverline, Tammy S. Mah, Annahita Keravala, Laura R. Barnes, Anna Bruchis, John F. Hess, P. G. FitzGerald, Daniel E. Weeks, Robert E. Ferrell, Michael B. Gorin

Am J Hum Genet. 2000 Apr; 66(4): 1426–1431. Published online 2000 Mar 22. doi: 10.1086/302871

PMCID:: PMC1288209

Abstract Article PDF–220K

Select item 70248466.

Clinical characteristics of congenital lamellar cataract and myopia in a Chinese family

Qing Liu, Siquan Zhu

Biosci Rep. 2020 Feb 28; 40(2): BSR20191349. Published online 2020 Feb 14. doi: 10.1042/BSR20191349

PMCID:: PMC7024846

Abstract Article PDF–1.1M

Select item 48968347.

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

Abstract Article PDF–1.1M

Select item 48193098.

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 43332099.

Patterns of Gene Transcript Abundance in the Blood of Children with Severe or Uncomplicated Dengue Highlight Differences in Disease Evolution and Host Response to Dengue Virus Infection

Hoang Truong Long, Martin L. Hibberd, Tran Tinh Hien, Nguyen Minh Dung, Tran Van Ngoc, Jeremy Farrar, Bridget Wills, Cameron P. Simmons

J Infect Dis. Author manuscript; available in PMC 2015 Feb 19.

Published in final edited form as: J Infect Dis. 2009 Feb 15; 199(4): 537–546. doi: 10.1086/596507

PMCID:: PMC4333209

Abstract Article PDF–1.9M

Select item 359306810.

Evolution of the vertebrate beaded filament protein, Bfsp2; comparing the in vitro assembly properties of a “tailed” zebrafish Bfsp2 to its “tailless” human orthologue

Bo Qu, Andrew Landsbury, Helia Berrit Schönthaler, Ralf Dahm, Yizhi Liu, John I. Clark, Alan R. Prescott, Roy A. Quinlan

Exp Eye Res. Author manuscript; available in PMC 2013 Mar 10.

Published in final edited form as: Exp Eye Res. 2012 Jan; 94(1): 192–202. Published online 2011 Dec 11. doi: 10.1016/j.exer.2011.12.001

PMCID:: PMC3593068

Abstract Article PDF–1.2M

Select item 334085611.

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 315678112.

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

Abstract Article PDF–6.9M

Select item 283140713.

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 228848714.

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 150909915.

Radiation hybrid mapping of cataract genes in the dog

Linda S. Hunter, Duska J. Sidjanin, Jennifer L. Johnson, Barbara Zangerl, Francis Galibert, Catherine Andre, Ewen Kirkness, Elijah Talamas, Gregory M. Acland, Gustavo D. Aguirre

Mol Vis. Author manuscript; available in PMC 2006 Jul 16.

Published in final edited form as: Mol Vis. 2006 May 24; 12: 588–596. Published online 2006 May 24.

PMCID:: PMC1509099

Abstract Article PDF–457K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Nucleotide

Items: 15

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity