PMC Links for Protein (Select 221136939) - 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 27782052.

Genomic Rearrangements of the PRPF31 Gene Account for 2.5% of Autosomal Dominant Retinitis Pigmentosa

Lori S. Sullivan, Sara J. Bowne, C. Robyn Seaman, Susan H. Blanton, Richard A. Lewis, John R. Heckenlively, David G. Birch, Dianna Hughbanks-Wheaton, Stephen P. Daiger

Invest Ophthalmol Vis Sci. Author manuscript; available in PMC 2009 Nov 17.

Published in final edited form as: Invest Ophthalmol Vis Sci. 2006 Oct; 47(10): 4579–4588. doi: 10.1167/iovs.06-0440

PMCID:: PMC2778205

Abstract Article PDF–903K

Select item 19148173.

Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11) and association with a unique bimodal expressivity phenotype.

M. Al-Maghtheh, E. Vithana, E. Tarttelin, M. Jay, K. Evans, T. Moore, S. Bhattacharya, C. F. Inglehearn

Am J Hum Genet. 1996 Oct; 59(4): 864–871.

PMCID:: PMC1914817

Summary Page Browse PDF–1.5M

Select item 65827274.

Identification of a novel pathogenic missense mutation in PRPF31 using whole exome sequencing: a case report

Laura Bryant, Olga Lozynska, Anson Marsh, Tyler E Papp, Lucas van Gorder, Leona W Serrano, Xiaowu Gai, Albert M Maguire, MD, Tomas S Aleman, Jean Bennett

Br J Ophthalmol. 2019 Jun; 103(6): 761–767. Published online 2018 Jul 20. doi: 10.1136/bjophthalmol-2017-311405

PMCID:: PMC6582727

Abstract Article PDF–1.2M

Select item 63480555.

DICER1 Syndrome: Characterization of the ocular phenotype in a family-based cohort study

Laryssa A Huryn, Amy Turriff, Laura A Harney, Ann Garrity Carr, Chevez-Barrios Patricia, Dan S. Gombos, Radha Ram, Robert B Hufnagel, D. Ashley Hill, Wadih M Zein, Kris Ann P Schultz, Rachel Bishop, Douglas R Stewart

Ophthalmology. Author manuscript; available in PMC 2020 Feb 1.

Published in final edited form as: Ophthalmology. 2019 Feb; 126(2): 296–304. Published online 2018 Oct 17. doi: 10.1016/j.ophtha.2018.09.038

PMCID:: PMC6348055

Abstract Article PDF–488K

Select item 49384166.

Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations

Amit Tiwari, Johannes Lemke, Janine Altmueller, Holger Thiele, Esther Glaus, Johannes Fleischhauer, Peter Nürnberg, John Neidhardt, Wolfgang Berger

PLoS One. 2016; 11(7): e0158692. Published online 2016 Jul 8. doi: 10.1371/journal.pone.0158692

PMCID:: PMC4938416

Abstract Article PDF–4.5M

Select item 37788737.

Prevalence of Mutations in eyeGENE Probands With a Diagnosis of Autosomal Dominant Retinitis Pigmentosa

Lori S. Sullivan, Sara J. Bowne, Melissa J. Reeves, Delphine Blain, Kerry Goetz, Vida NDifor, Sally Vitez, Xinjing Wang, Santa J. Tumminia, Stephen P. Daiger

Invest Ophthalmol Vis Sci. 2013 Sep; 54(9): 6255–6261. Published online 2013 Sep 19. doi: 10.1167/iovs.13-12605

PMCID:: PMC3778873

Abstract Article PDF–313K

Select item 22620318.

Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay

Thomas Rio Frio, Nicholas M. Wade, Adriana Ransijn, Eliot L. Berson, Jacques S. Beckmann, Carlo Rivolta

J Clin Invest. 2008 Apr 1; 118(4): 1519–1531. Published online 2008 Mar 3. doi: 10.1172/JCI34211

PMCID:: PMC2262031

Abstract Article PDF–1.1M

Select item 13708799.

Complete MALDI-ToF MS analysis of cross-linked peptide–RNA oligonucleotides derived from nonlabeled UV-irradiated ribonucleoprotein particles

EVA KÜHN-HÖLSKEN, CHRISTOF LENZ, BJÖRN SANDER, REINHARD LÜHRMANN, HENNING URLAUB

RNA. 2005 Dec; 11(12): 1915–1930. doi: 10.1261/rna.2176605

PMCID:: PMC1370879

Abstract Article PDF–607K

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