PMC Links for Nucleotide (Select 1519244273) - PMC

Select item 62746471.

Structures of the human pre-catalytic spliceosome and its precursor spliceosome

Xiechao Zhan, Chuangye Yan, Xiaofeng Zhang, Jianlin Lei, Yigong Shi

Cell Res. 2018 Dec; 28(12): 1129–1140. Published online 2018 Oct 12. doi: 10.1038/s41422-018-0094-7

PMCID:: PMC6274647

Select item 61356252.

Autosomal dominant retinitis pigmentosa-associated gene PRPF8 is essential for hypoxia-induced mitophagy through regulating ULK1 mRNA splicing

Guang Xu, Ting Li, Jiayi Chen, Changyan Li, Haixin Zhao, Chengcheng Yao, Hua Dong, Kaiqing Wen, Kai Wang, Jie Zhao, Qing Xia, Tao Zhou, Huafeng Zhang, Ping Gao, Ailing Li, Xin Pan

Autophagy. 2018; 14(10): 1818–1830. Published online 2018 Aug 13. doi: 10.1080/15548627.2018.1501251

PMCID:: PMC6135625

Abstract Article PDF–2.2M

Select item 2983643.

The mammalian analogue of the yeast PRP8 splicing protein is present in the U4/5/6 small nuclear ribonucleoprotein particle and the spliceosome.

A L Pinto, J A Steitz

Proc Natl Acad Sci U S A. 1989 Nov; 86(22): 8742–8746. doi: 10.1073/pnas.86.22.8742

PMCID:: PMC298364

Summary Page Browse PDF–1.2M

Select item 2977704.

20S small nuclear ribonucleoprotein U5 shows a surprisingly complex protein composition.

M Bach, G Winkelmann, R Lührmann

Proc Natl Acad Sci U S A. 1989 Aug; 86(16): 6038–6042. doi: 10.1073/pnas.86.16.6038

PMCID:: PMC297770

Summary Page Browse PDF–1.3M

Select item 538385.

A mammalian protein of 220 kDa binds pre-mRNAs in the spliceosome: a potential homologue of the yeast PRP8 protein.

M A Garcia-Blanco, G J Anderson, J Beggs, P A Sharp

Proc Natl Acad Sci U S A. 1990 Apr; 87(8): 3082–3086. doi: 10.1073/pnas.87.8.3082

PMCID:: PMC53838

Summary Page Browse PDF–1.2M

Select item 61941326.

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 51542137.

Inhibition of de novo Methyltransferase 3B is a Potential Therapy for Hepatocellular Carcinoma

Hong Fan, Jian Cheng, Zhu Jiang Zhao

Gastroenterology Res. 2008 Dec; 1(1): 33–39. Published online 2008 Nov 20. doi: 10.4021/gr2008.10.1240

PMCID:: PMC5154213

Abstract Article PDF–266K

Select item 50117068.

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 46642309.

Splicing Factor Prp8 Interacts With NES^AR and Regulates Androgen Receptor in Prostate Cancer Cells

Dan Wang, Minh M. Nguyen, Khalid Z. Masoodi, Prabhpreet Singh, Yifeng Jing, Katherine O'Malley, Javid A. Dar, Rajiv Dhir, Zhou Wang

Mol Endocrinol. 2015 Dec; 29(12): 1731–1742. Published online 2015 Sep 15. doi: 10.1210/me.2015-1112

PMCID:: PMC4664230

Abstract Article

Select item 461968810.

Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing

Liping Yang, Hui Cui, Xiaobei Yin, Hongliang Dou, Lin Zhao, Ningning Chen, Jinlu Zhang, Huirong Zhang, Genlin Li, Zhizhong Ma

PLoS One. 2015; 10(10): e0140684. Published online 2015 Oct 23. doi: 10.1371/journal.pone.0140684

PMCID:: PMC4619688

Abstract Article PDF–1.8M

Select item 449685711.

The diagnostic application of targeted re-sequencing in Korean patients with retinitis pigmentosa

Chang-Ki Yoon, Nayoung K. D. Kim, Je-Gun Joung, Joo Young Shin, Jung Hyun Park, Hye-Hyun Eum, Hae-ock Lee, Woong-Yang Park, Hyeong Gon Yu

BMC Genomics. 2015; 16(1): 515. Published online 2015 Jul 9. doi: 10.1186/s12864-015-1723-x

PMCID:: PMC4496857

Abstract Article PDF–571K

Select item 394544112.

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements

Feng Wang, Hui Wang, Han-Fang Tuan, Duy H. Nguyen, Vincent Sun, Vafa Keser, Sara J. Bowne, Lori S. Sullivan, Hongrong Luo, Ling Zhao, Xia Wang, Jacques E. Zaneveld, Jason S. Salvo, Sorath Siddiqui, Louise Mao, Dianna K. Wheaton, David G. Birch, Kari E. Branham, John R. Heckenlively, Cindy Wen, Ken Flagg, Henry Ferreyra, Jacqueline Pei, Ayesha Khan, Huanan Ren, Keqing Wang, Irma Lopez, Raheel Qamar, Juan C. Zenteno, Raul Ayala-Ramirez, Beatriz-Buentello-Volante, Qing Fu, David A. Simpson, Yumei Li, Ruifang Sui, Giuliana Silvestri, Stephen P. Daiger, Robert K. Koenekoop, Kang Zhang, Rui Chen

Hum Genet. Author manuscript; available in PMC 2015 Mar 1.

Published in final edited form as: Hum Genet. 2014 Mar; 133(3): 331–345. Published online 2013 Oct 24. doi: 10.1007/s00439-013-1381-5

PMCID:: PMC3945441

Abstract Article PDF–1.6M

Select item 335108413.

Molecular Markers of Dental Pulp Tissue during Orthodontic Tooth Movement: A Pilot Study

Rohaya Megat Abdul Wahab, Shahrul Hisham Zainal Ariffin, Wong Woan Yeen, Nurul Atikah Ahmad, Sahidan Senafi

ScientificWorldJournal. 2012; 2012: 236427. Published online 2012 Apr 30. doi: 10.1100/2012/236427

PMCID:: PMC3351084

Abstract Article PDF–1.1M

Select item 324097714.

Whole-exome sequencing uncovers frequent GNAS mutations in intraductal papillary mucinous neoplasms of the pancreas

Toru Furukawa, Yuko Kuboki, Etsuko Tanji, Shoko Yoshida, Takashi Hatori, Masakazu Yamamoto, Noriyuki Shibata, Kyoko Shimizu, Naoyuki Kamatani, Keiko Shiratori

Sci Rep. 2011; 1: 161. Published online 2011 Nov 18. doi: 10.1038/srep00161

PMCID:: PMC3240977

Abstract Article PDF–914K

Select item 305329315.

Identification of Disease-Causing Mutations in Autosomal Dominant Retinitis Pigmentosa (adRP) Using Next-Generation DNA Sequencing

Sara J. Bowne, Lori S. Sullivan, Daniel C. Koboldt, Li Ding, Robert Fulton, Rachel M. Abbott, Erica J. Sodergren, David G. Birch, Dianna H. Wheaton, John R. Heckenlively, Qin Liu, Eric A. Pierce, George M. Weinstock, Stephen P. Daiger

Invest Ophthalmol Vis Sci. 2011 Jan; 52(1): 494–503. Published online 2011 Jan 25. doi: 10.1167/iovs.10-6180

PMCID:: PMC3053293

Abstract Article PDF–896K

Select item 269325416.

Glycogene Expression in Conjunctiva of Patients with Dry Eye: Downregulation of Notch Signaling

Flavio Mantelli, Lana Schaffer, Reza Dana, Steven R. Head, Pablo Argüeso

Invest Ophthalmol Vis Sci. Author manuscript; available in PMC 2010 Jun 1.

Published in final edited form as: Invest Ophthalmol Vis Sci. 2009 Jun; 50(6): 2666–2672. Published online 2008 Nov 14. doi: 10.1167/iovs.08-2734

PMCID:: PMC2693254

Abstract Article PDF–410K

Select item 267975917.

Functional annotation of the human retinal pigment epithelium transcriptome

Judith C Booij, Simone van Soest, Sigrid MA Swagemakers, Anke HW Essing, Annemieke JMH Verkerk, Peter J van der Spek, Theo GMF Gorgels, Arthur AB Bergen

BMC Genomics. 2009; 10: 164. Published online 2009 Apr 20. doi: 10.1186/1471-2164-10-164

PMCID:: PMC2679759

Abstract Article PDF–1.3M

Select item 152488718.

Identification, cloning, and functional analysis of the human U6 snRNA-specific terminal uridylyl transferase

Ralf Trippe, Elena Guschina, Markus Hossbach, Henning Urlaub, Reinhard Lührmann, Bernd-Joachim Benecke

RNA. 2006 Aug; 12(8): 1494–1504. doi: 10.1261/rna.87706

PMCID:: PMC1524887

Abstract Article PDF–374K

Select item 13788319.

A computational/functional genomics approach for the enrichment of the retinal transcriptome and the identification of positional candidate retinopathy genes

Nicholas Katsanis, Kim C. Worley, Guillermo Gonzalez, Stephen J. Ansley, James R. Lupski

Proc Natl Acad Sci U S A. 2002 Oct 29; 99(22): 14326–14331. Published online 2002 Oct 21. doi: 10.1073/pnas.222409099

PMCID:: PMC137883

Abstract Article PDF–488K

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