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Items: 1 to 20 of 2558

1.
Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene
Sara J. Bowne, Stephen P. Daiger, Kimberly A. Malone, John R. Heckenlively, Avril Kennan, Peter Humphries, Dianna Hughbanks-Wheaton, David G. Birch, Qin Liu, Eric A. Pierce, Jian Zuo, Qian Huang, Danyel D. Donovan, Lori S. Sullivan
Mol Vis. Author manuscript; available in PMC 2008 Nov 6.
Published in final edited form as: Mol Vis. 2003 Apr 24; 9: 129–137. Published online 2003 Apr 24.
PMCID:
PMC2580755
AbstractArticlePDF–1.1M
2.
The Retinitis Pigmentosa 1 Protein Is a Photoreceptor Microtubule-Associated Protein
Qin Liu, Jian Zuo, Eric A. Pierce
J Neurosci. 2004 Jul 21; 24(29): 6427–6436. doi: 10.1523/JNEUROSCI.1335-04.2004
PMCID:
PMC1904502
AbstractArticlePDF–1.1M
3.
Progressive photoreceptor degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the retinitis pigmentosa-1 (Rp1) gene
Jiangang Gao, Kyeongmi Cheon, Steven Nusinowitz, Qin Liu, Di Bei, Karen Atkins, Asif Azimi, Stephen P. Daiger, Debora B. Farber, John R. Heckenlively, Eric A. Pierce, Lori S. Sullivan, Jian Zuo
Proc Natl Acad Sci U S A. 2002 Apr 16; 99(8): 5698–5703. doi: 10.1073/pnas.042122399
PMCID:
PMC122834
AbstractArticlePDF–831K
4.
Long-read sequencing improves the genetic diagnosis of retinitis pigmentosa by identifying an Alu retrotransposon insertion in the EYS gene
Elena Fernández-Suárez, María González-del Pozo, Cristina Méndez-Vidal, Marta Martín-Sánchez, Marcela Mena, Belén de la Morena-Barrio, Javier Corral, Salud Borrego, Guillermo Antiñolo
Mob DNA. 2024; 15: 9. Published online 2024 May 4. doi: 10.1186/s13100-024-00320-1
PMCID:
PMC11069205
AbstractArticlePDF–2.7M
5.
Multifractal Analysis of Choroidal SDOCT Images in the Detection of Retinitis Pigmentosa
Francesca Minicucci, Fotios D. Oikonomou, Angela A. De Sanctis
Tomography. 2024 Apr; 10(4): 480–492. Published online 2024 Mar 29. doi: 10.3390/tomography10040037
PMCID:
PMC11053729
AbstractArticlePDF–2.0M
6.
Syndromic Retinitis Pigmentosa: A 15-Patient Study
Ianne Pessoa Holanda, Priscila Hae Hyun Rim, Rare Genomes Project Consortium, Mara Sanches Guaragna, Vera Lúcia Gil-da-Silva-Lopes, Carlos Eduardo Steiner
Genes (Basel) 2024 Apr; 15(4): 516. Published online 2024 Apr 20. doi: 10.3390/genes15040516
PMCID:
PMC11050127
AbstractArticlePDF–1.3M
7.
Electrophysiological and Visual Parameter Changes in Retinitis Pigmentosa Patients undergoing Autologous Platelet-Rich Plasma Therapy: A Randomized Control Trial
Perwez Khan, Lubna Khan, Kumari Kanchan Kiran
J Curr Ophthalmol. 2023 Jul-Sep; 35(3): 267–275. Published online 2024 Mar 29. doi: 10.4103/joco.joco_216_22
PMCID:
PMC11047807
AbstractArticlePDF–1.5M
8.
Disease modeling and pharmacological rescue of autosomal dominant retinitis pigmentosa associated with RHO copy number variation
Sangeetha Kandoi, Cassandra Martinez, Kevin Xu Chen, Miika Mehine, L Vinod K Reddy, Brian C Mansfield, Jacque L Duncan, Deepak A Lamba
eLife. 2024; 12: RP90575. Published online 2024 Apr 25. doi: 10.7554/eLife.90575
PMCID:
PMC11045220
AbstractArticlePDF–13M
9.
Comparison of Full-Field Stimulus Threshold Measurements in Patients With Retinitis Pigmentosa and Healthy Subjects With Dilated and Nondilated Pupil
Milda Reith, Katarina Stingl, Laura Kühlewein, Melanie Kempf, Krunoslav Stingl, Hana Langrova
Transl Vis Sci Technol. 2024 Apr; 13(4): 23. Published online 2024 Apr 17. doi: 10.1167/tvst.13.4.23
PMCID:
PMC11033600
AbstractArticlePDF–2.0M
10.
DEXAMETHASONE IMPLANT VERSUS TOPICAL CARBONIC ANHYDRASE INHIBITORS IN PATIENTS WITH BILATERAL RETINITIS PIGMENTOSA–RELATED CYSTOID MACULAR EDEMA: A Prospective, Paired-Eye Pilot Study
Leonardo Colombo, Giovanni Montesano, Alice Di Domenico, Benedetta Colizzi, Roberta Rissotto, Paolo Maltese, Matteo Bertelli, Alessandro Autelitano, Luca Rossetti
Retina. 2024 May; 44(5): 852–860. Published online 2024 Apr 18. doi: 10.1097/IAE.0000000000004039
PMCID:
PMC11027988
AbstractArticlePDF–553K
11.
Effect of molecular hydrogen, a novelly-established antioxidant, on the retinal degeneration of hereditary retinitis pigmentosa: an in-vivo study
Weiming Yan, Qiurui He, Pan Long, Tao Chen, Lei Zhang, Haiyan Wang
Front Pharmacol. 2023; 14: 1294315. Published online 2024 Apr 3. doi: 10.3389/fphar.2023.1294315
PMCID:
PMC11025393
AbstractArticlePDF–1.9M
12.
Open-Angle and Steroid-Induced Glaucoma in Patients With Retinitis Pigmentosa: A Dangerous Liaison
Gabriel A Jiménez-Berríos, Sebastián J Vázquez-Folch, Natalio Izquierdo
Cureus. 2024 Mar; 16(3): e55632. Published online 2024 Mar 6. doi: 10.7759/cureus.55632
PMCID:
PMC10996434
AbstractArticlePDF–1.2M
13.
Clinical sequencing of the retinitis pigmentosa gene RPGR in over 1,000 cases of vision loss
Madhulatha Pantrangi, Julie Rath, Nicole Kaetterhenry, Kari Branham, Dana Talsness, James L. Weber
Mol Vis. 2024; 30: 49–57. Published online 2024 Feb 19.
PMCID:
PMC10994678
AbstractArticlePDF–529K
14.
A Precision Therapy Approach for Retinitis Pigmentosa 11 Using Splice-Switching Antisense Oligonucleotides to Restore the Open Reading Frame of PRPF31
Janya Grainok, Ianthe L. Pitout, Fred K. Chen, Samuel McLenachan, Rachael C. Heath Jeffery, Chalermchai Mitrpant, Sue Fletcher
Int J Mol Sci. 2024 Mar; 25(6): 3391. Published online 2024 Mar 16. doi: 10.3390/ijms25063391
PMCID:
PMC10970544
AbstractArticlePDF–3.3M
15.
Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel RPGR Variant and Possible Modifier Gene
Noelia Baz-Redón, Laura Sánchez-Bellver, Mónica Fernández-Cancio, Sandra Rovira-Amigo, Thomas Burgoyne, Rai Ranjit, Virginia Aquino, Noemí Toro-Barrios, Rosario Carmona, Eva Polverino, Maria Cols, Antonio Moreno-Galdó, Núria Camats-Tarruella, Gemma Marfany
Cells. 2024 Mar; 13(6): 524. Published online 2024 Mar 16. doi: 10.3390/cells13060524
PMCID:
PMC10968961
AbstractArticlePDF–11M
16.
Retinitis pigmentosa‐1 due to an RP1 mutation in a consanguineous Iranian family: Report of a novel mutation
Mostafa Neissi, Motahareh Sheikh‐Hosseini, Javad Mohammadi‐Asl
Clin Case Rep. 2024 Mar; 12(3): e8666. Published online 2024 Mar 14. doi: 10.1002/ccr3.8666
PMCID:
PMC10940001
AbstractArticlePDF–1.1M
17.
Autosomal Dominant Retinitis Pigmentosa Secondary to TOPORS Mutations: A Report of a Novel Mutation and Clinical Findings
Alen T. Eid, Kevin Toni Eid, James Vernon Odom, David Hinkle, Monique Leys
J Clin Med. 2024 Mar; 13(5): 1498. Published online 2024 Mar 5. doi: 10.3390/jcm13051498
PMCID:
PMC10934045
AbstractArticlePDF–2.6M
18.
m6A methyltransferase METTL14‑mediated RP1‑228H13.5 promotes the occurrence of liver cancer by targeting hsa‑miR‑205/ZIK1
Jia Xu, Chang Liu, Kai Qu, Jingyao Zhang, Sinan Liu, Fandi Meng, Yong Wan
Oncol Rep. 2024 Apr; 51(4): 59. Published online 2024 Feb 29. doi: 10.3892/or.2024.8718
PMCID:
PMC10926101
AbstractArticlePDF–15M
19.
New insights in the multimodal imaging of retinitis pigmentosa
Alessandro Berni, Alessandro Arrigo, Lorenzo Bianco, Alessio Antropoli, Andrea Saladino, Ahmad M. Mansour, Manuel Vilela, Francesco Bandello, Maurizio Battaglia Parodi
Eur J Ophthalmol. 2024 Mar; 34(2): 357–366. Published online 2023 Apr 27. doi: 10.1177/11206721231172863
PMCID:
PMC10898209
AbstractArticlePDF–2.2M
20.
Quantitative microvascular analysis in different stages of retinitis pigmentosa using optical coherence tomography angiography
Richul Oh, Kunho Bae, Chang Ki Yoon, Un Chul Park, Kyu Hyung Park, Eun Kyoung Lee
Sci Rep. 2024; 14: 4688. Published online 2024 Feb 26. doi: 10.1038/s41598-024-55070-0
PMCID:
PMC10897439
AbstractArticlePDF–1.9M

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