PMC Links for Nucleotide (Select 1677480572) - PMC

Result Filters

Links from Nucleotide

Items: 1 to 20 of 27

<< First< Prev

Page of 2

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 63553162.

Natural History Study of Retinal Structure, Progression, and Symmetry Using Ellipzoid Zone Metrics in RPGR-Associated Retinopathy

James J.L. Tee, Yesa Yang, Angelos Kalitzeos, Andrew Webster, James Bainbridge, Michel Michaelides

Am J Ophthalmol. 2019 Feb; 198: 111–123. doi: 10.1016/j.ajo.2018.10.003

PMCID:: PMC6355316

Abstract Article PDF–1.1M

Select item 62035753.

Novel splice receptor-site mutation of RPGR in a Chinese family with X-linked retinitis pigmentosa

Jing Wang, Cong Zhou, Yuanyuan Xiao, Hongqian Liu

Medicine (Baltimore) 2018 Oct; 97(41): e12779. Published online 2018 Oct 12. doi: 10.1097/MD.0000000000012779

PMCID:: PMC6203575

Abstract Article PDF–399K

Select item 18012454.

X-linked dominant cone-rod degeneration: linkage mapping of a new locus for retinitis pigmentosa (RP 15) to Xp22.13-p22.11.

R E McGuire, L S Sullivan, S H Blanton, M W Church, J R Heckenlively, S P Daiger

Am J Hum Genet. 1995 Jul; 57(1): 87–94.

PMCID:: PMC1801245

Summary Page Browse PDF–1.0M

Select item 533335.

Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests.

J Ott, S Bhattacharya, J D Chen, M J Denton, J Donald, C Dubay, G J Farrar, G A Fishman, D Frey, A Gal, et al.

Proc Natl Acad Sci U S A. 1990 Jan; 87(2): 701–704. doi: 10.1073/pnas.87.2.701

PMCID:: PMC53333

Summary Page Browse PDF–766K

Select item 67709686.

Molecular Strategies for RPGR Gene Therapy

Jasmina Cehajic Kapetanovic, Michelle E McClements, Cristina Martinez-Fernandez de la Camara, Robert E MacLaren

Genes (Basel) 2019 Sep; 10(9): 674. Published online 2019 Sep 4. doi: 10.3390/genes10090674

PMCID:: PMC6770968

Abstract Article PDF–1.7M

Select item 67137187.

Identification of Pathogenic Mutations and Investigation of the NOTCH Pathway Activation in Kartagener Syndrome

Yongjian Yue, Qijun Huang, Peng Zhu, Pan Zhao, Xinjuan Tan, Shengguo Liu, Shulin Li, Xuemei Han, Linling Cheng, Bo Li, Yingyun Fu

Front Genet. 2019; 10: 749. Published online 2019 Aug 22. doi: 10.3389/fgene.2019.00749

PMCID:: PMC6713718

Abstract Article PDF–2.4M

Select item 61941328.

A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies

Maitane Ezquerra-Inchausti, Ander Anasagasti, Olatz Barandika, Gonzaga Garay-Aramburu, Marta Galdós, Adolfo López de Munain, Cristina Irigoyen, Javier Ruiz-Ederra

Sci Rep. 2018; 8: 15457. Published online 2018 Oct 18. doi: 10.1038/s41598-018-33810-3

Correction in:: Sci Rep. 2019; 9: 8113.

PMCID:: PMC6194132

Abstract Article PDF–1.5M

Select item 60710679.

Application of Whole Exome and Targeted Panel Sequencing in the Clinical Molecular Diagnosis of 319 Chinese Families with Inherited Retinal Dystrophy and Comparison Study

Likun Wang, Jinlu Zhang, Ningning Chen, Lei Wang, Fengsheng Zhang, Zhizhong Ma, Genlin Li, Liping Yang

Genes (Basel) 2018 Jul; 9(7): 360. Published online 2018 Jul 19. doi: 10.3390/genes9070360

PMCID:: PMC6071067

Abstract Article PDF–255K

Select item 605935810.

Gene therapy for the treatment of X-linked retinitis pigmentosa

Cristina Martinez-Fernandez De La Camara, Anika Nanda, Anna Paola Salvetti, M. Dominik Fischer, Robert E. MacLaren

Expert Opin Orphan Drugs. Author manuscript; available in PMC 2018 Jul 25.

Published in final edited form as: Expert Opin Orphan Drugs. 2018 Feb 27; 6(3): 167–177. Published online 2018 Feb 27. doi: 10.1080/21678707.2018.1444476

PMCID:: PMC6059358

Abstract Article PDF–1.2M

Select item 554280411.

Optimization of Retinal Gene Therapy for X-Linked Retinitis Pigmentosa Due to RPGR Mutations

William A. Beltran, Artur V. Cideciyan, Shannon E. Boye, Guo-Jie Ye, Simone Iwabe, Valerie L. Dufour, Luis Felipe Marinho, Malgorzata Swider, Mychajlo S. Kosyk, Jin Sha, Sanford L. Boye, James J. Peterson, C. Douglas Witherspoon, John J. Alexander, Gui-Shuang Ying, Mark S. Shearman, Jeffrey D. Chulay, William W. Hauswirth, Paul D. Gamlin, Samuel G. Jacobson, Gustavo D. Aguirre

Mol Ther. 2017 Aug 2; 25(8): 1866–1880. Published online 2017 May 27. doi: 10.1016/j.ymthe.2017.05.004

PMCID:: PMC5542804

Abstract Article PDF–3.7M

Select item 517190412.

Identification of novel X-linked gain-of-function RPGR-ORF15 mutation in Italian family with retinitis pigmentosa and pathologic myopia

Francesco Parmeggiani, Vanessa Barbaro, Katia De Nadai, Enrico Lavezzo, Stefano Toppo, Marzio Chizzolini, Giorgio Palù, Cristina Parolin, Enzo Di Iorio

Sci Rep. 2016; 6: 39179. Published online 2016 Dec 20. doi: 10.1038/srep39179

PMCID:: PMC5171904

Abstract Article PDF–1.0M

Select item 506578213.

Copy-number variant analysis of classic heterotaxy highlights the importance of body patterning pathways

Erin M. Hagen, Robert J. Sicko, Denise M. Kay, Shannon L. Rigler, Aggeliki Dimopoulos, Shabbir Ahmad, Margaret H. Doleman, Ruzong Fan, Paul A. Romitti, Marilyn L. Browne, Michele Caggana, Lawrence C. Brody, Gary M. Shaw, Laura L. Jelliffe-Pawlowski, James L. Mills

Hum Genet. Author manuscript; available in PMC 2017 Dec 1.

Published in final edited form as: Hum Genet. 2016 Dec; 135(12): 1355–1364. Published online 2016 Sep 15. doi: 10.1007/s00439-016-1727-x

PMCID:: PMC5065782

Abstract Article PDF–357K

Select item 501170614.

Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands

Qi Zhang, Mingchu Xu, Jennifer D. Verriotto, Yumei Li, Hui Wang, Lin Gan, Byron L. Lam, Rui Chen

Sci Rep. 2016; 6: 32792. Published online 2016 Sep 6. doi: 10.1038/srep32792

PMCID:: PMC5011706

Abstract Article PDF–906K

Select item 474666015.

Next-generation sequencing-based molecular diagnosis of 12 inherited retinal disease probands of Uyghur ethnicity

Abulikemu Tajiguli, Mingchu Xu, Qing Fu, Rouzimaimaiti Yiming, Keqing Wang, Yumei Li, Aiden Eblimit, Ruifang Sui, Rui Chen, Haji Akber Aisa

Sci Rep. 2016; 6: 21384. Published online 2016 Feb 9. doi: 10.1038/srep21384

PMCID:: PMC4746660

Abstract Article PDF–1.0M

Select item 467889816.

NGS-based Molecular diagnosis of 105 eyeGENE^® probands with Retinitis Pigmentosa

Zhongqi Ge, Kristen Bowles, Kerry Goetz, Hendrik P. N. Scholl, Feng Wang, Xinjing Wang, Shan Xu, Keqing Wang, Hui Wang, Rui Chen

Sci Rep. 2015; 5: 18287. Published online 2015 Dec 15. doi: 10.1038/srep18287

PMCID:: PMC4678898

Abstract Article PDF–707K

Select item 462932417.

Successful arrest of photoreceptor and vision loss expands the therapeutic window of retinal gene therapy to later stages of disease

William A. Beltran, Artur V. Cideciyan, Simone Iwabe, Malgorzata Swider, Mychajlo S. Kosyk, Kendra McDaid, Inna Martynyuk, Gui-Shuang Ying, James Shaffer, Wen-Tao Deng, Sanford L. Boye, Alfred S. Lewin, William W. Hauswirth, Samuel G. Jacobson, Gustavo D. Aguirre

Proc Natl Acad Sci U S A. 2015 Oct 27; 112(43): E5844–E5853. Published online 2015 Oct 12. doi: 10.1073/pnas.1509914112

PMCID:: PMC4629324

Abstract Article PDF–2.2M

Select item 457554118.

Stability and Safety of an AAV Vector for Treating RPGR-ORF15 X-Linked Retinitis Pigmentosa

Wen-Tao Deng, Frank M. Dyka, Astra Dinculescu, Jie Li, Ping Zhu, Vince A. Chiodo, Sanford L. Boye, Thomas J. Conlon, Kirsten Erger, Travis Cossette, William W. Hauswirth

Hum Gene Ther. 2015 Sep 1; 26(9): 593–602. Published online 2015 Jun 15. doi: 10.1089/hum.2015.035

Correction in:: Hum Gene Ther. February 2021; 32(3-4): 232–233.

PMCID:: PMC4575541

Abstract Article PDF–716K

Select item 450975519.

Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned

Berta Almoguera, Jiankang Li, Patricia Fernandez-San Jose, Yichuan Liu, Michael March, Renata Pellegrino, Ryan Golhar, Marta Corton, Fiona Blanco-Kelly, Maria Isabel López-Molina, Blanca García-Sandoval, Yiran Guo, Lifeng Tian, Xuanzhu Liu, Liping Guan, Jianguo Zhang, Brendan Keating, Xun Xu, Hakon Hakonarson, Carmen Ayuso

PLoS One. 2015; 10(7): e0133624. Published online 2015 Jul 21. doi: 10.1371/journal.pone.0133624