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Items: 1 to 20 of 125

1.
Characterization of a cDNA encoding RP43, a CUB-domain-containing protein from the tube of Riftia pachyptila (Vestimentifera), and distribution of its transcript.
L Chamoy, M Nicolaï, B Quennedey, F Gaill, J Delachambre
Biochem J. 2000 Sep 1; 350(Pt 2): 421–427.
PMCID:
PMC1221269
SummaryPDF–439K
2.
Novel PDE6A mutation in an Emirati patient with retinitis pigmentosa
Pratibha Nair, Abdul Rezzak Hamzeh, Ethar Mustafa Malik, Darshjit Oberoi, Mahmoud Taleb Al-Ali, Fatma Bastaki
Oman J Ophthalmol. 2017 Sep-Dec; 10(3): 228–231. doi: 10.4103/ojo.OJO_213_2016
PMCID:
PMC5657168
Article
3.
Immunodiagnosis of Ehrlichia canis Infection with Recombinant Proteins
Jere W. McBride, Richard E. Corstvet, Edward B. Breitschwerdt, David H. Walker
J Clin Microbiol. 2001 Jan; 39(1): 315–322. doi: 10.1128/JCM.39.1.315-322.2001
PMCID:
PMC87721
ArticlePDF–924K
4.
A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023
Asad Munir, Salma Afsar, Atta Ur Rehman
BMC Ophthalmol. 2024; 24: 55. Published online 2024 Feb 5. doi: 10.1186/s12886-024-03319-7
PMCID:
PMC10840256
ArticlePDF–1.6M
5.
Deep Learning–Facilitated Study of the Rate of Change in Photoreceptor Outer Segment Metrics in RPGR-Related X-Linked Retinitis Pigmentosa
Yi-Zhong Wang, Katherine Juroch, Yineng Chen, Gui-Shuang Ying, David G. Birch
Invest Ophthalmol Vis Sci. 2023 Nov; 64(14): 31. Published online 2023 Nov 21. doi: 10.1167/iovs.64.14.31
PMCID:
PMC10668621
ArticlePDF–746K
6.
Rod and Cone Function Measured Objectively by Chromatic Pupil Campimetry Show a Different Preservation Between Distinct Genotypes in Retinitis Pigmentosa
Carina Kelbsch, Melanie Kempf, Ronja Jung, Friederike Kortüm, Milda Reith, Laura Kuehlewein, Susanne Kohl, Torsten Strasser, Tobias Peters, Helmut Wilhelm, Barbara Wilhelm, Krunoslav Stingl, Katarina Stingl
Invest Ophthalmol Vis Sci. 2023 Aug; 64(11): 18. Published online 2023 Aug 14. doi: 10.1167/iovs.64.11.18
PMCID:
PMC10431211
ArticlePDF–1.7M
7.
Phenotypic heterogeneity in family members of patients with retinitis pigmentosa
Rajasekar Loheshwari Kuppuraj, Neriyanuri Srividya, Sathyaprasath Mathangi, Arunacahalam Jayamuruga Pandian, Verma Adithya, Raman Rajiv
Indian J Ophthalmol. 2023 Jun; 71(6): 2504–2511. Published online 2023 Jun 14. doi: 10.4103/ijo.IJO_1853_22
PMCID:
PMC10418025
ArticlePDF–3.2M
8.
Next-generation sequencing-based genetic testing and phenotype correlation in retinitis pigmentosa patients from India
Parveen Sen, Natarajan Srikrupa, Puja Maitra, Sundaramurthy Srilekha, Periyasamy Porkodi, Harshavardhini Gnanasekaran, Muna Bhende, Vikas Khetan, Sinnakaruppan Mathavan, Pramod Bhende, Dhanashree Ratra, Rajiv Raman, Chetan Rao, Sarangapani Sripriya
Indian J Ophthalmol. 2023 Jun; 71(6): 2512–2520. Published online 2023 Jun 14. doi: 10.4103/IJO.IJO_2579_22
PMCID:
PMC10417947
ArticlePDF–4.2M
9.
Wg/Wnt1 and Erasp link ER stress to proapoptotic signaling in an autosomal dominant retinitis pigmentosa model
Jung-Eun Park, Jiyoun Lee, Soonhyuck Ok, Seunghee Byun, Eun-Ju Chang, Sung-Eun Yoon, Young-Joon Kim, Min-Ji Kang
Exp Mol Med. 2023 Jul; 55(7): 1544–1555. Published online 2023 Jul 18. doi: 10.1038/s12276-023-01044-7
PMCID:
PMC10394004
ArticlePDF–3.8M
10.
Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review
Kirk A. J. Stephenson, Laura Whelan, Julia Zhu, Adrian Dockery, Niamh C. Wynne, Rebecca M. Cairns, Claire Kirk, Jacqueline Turner, Emma S. Duignan, James J. O'Byrne, Giuliana Silvestri, Paul F. Kenna, G. Jane Farrar, David J. Keegan
Invest Ophthalmol Vis Sci. 2023 Jul; 64(10): 23. Published online 2023 Jul 19. doi: 10.1167/iovs.64.10.23
PMCID:
PMC10362925
ArticlePDF–794K
11.
Multimorbidity due to novel pathogenic variants in the WFS1/RP1/NOD2 genes: autosomal dominant congenital lamellar cataract, retinitis pigmentosa and Crohn’s disease in a British family
Vanita Berry, Alexander Ionides, Michalis Georgiou, Roy A Quinlan, Michel Michaelides
BMJ Open Ophthalmol. 2023; 8(1): e001252. Published online 2023 Jul 14. doi: 10.1136/bmjophth-2023-001252
PMCID:
PMC10351282
ArticlePDF–551K
12.
Early Alterations of RNA Binding Protein (RBP) Homeostasis and ER Stress-Mediated Autophagy Contributes to Progressive Retinal Degeneration in the rd10 Mouse Model of Retinitis Pigmentosa (RP)
Alfred Yamoah, Priyanka Tripathi, Haihong Guo, Leonie Scheve, Peter Walter, Sandra Johnen, Frank Müller, Joachim Weis, Anand Goswami
Cells. 2023 Apr; 12(7): 1094. Published online 2023 Apr 6. doi: 10.3390/cells12071094
PMCID:
PMC10092976
ArticlePDF–6.5M
13.
Properties of a Single Amino Acid Residue in the Third Transmembrane Domain Determine the Kinetics of Ambient Light-Sensitive Channelrhodopsin
Akito Hatakeyama, Eriko Sugano, Tatsuki Sayama, Yoshito Watanabe, Tomoya Suzuki, Kitako Tabata, Yuka Endo, Tetsuya Sakajiri, Tomokazu Fukuda, Taku Ozaki, Hiroshi Tomita
Int J Mol Sci. 2023 Mar; 24(5): 5054. Published online 2023 Mar 6. doi: 10.3390/ijms24055054
PMCID:
PMC10003734
ArticlePDF–2.9M
14.
Clinical and Therapeutic Aspects of Sideroblastic Anaemia with B-Cell Immunodeficiency, Periodic Fever and Developmental Delay (SIFD) Syndrome: a Systematic Review
Ilaria Maccora, Athimalaipet V. Ramanan, Daniel Wiseman, Edoardo Marrani, Maria V. Mastrolia, Gabriele Simonini
J Clin Immunol. 2023; 43(1): 1–30. Published online 2022 Aug 19. doi: 10.1007/s10875-022-01343-0
PMCID:
PMC9840570
ArticlePDF–1.0M
15.
Elevated retinal cGMP is not associated with elevated circulating cGMP levels in a canine model of retinitis pigmentosa
Laurence M. Occelli, Kelian Sun, Paige A. Winkler, Brandy J. Morgan, Simon M. Petersen-Jones
PLoS One. 2022; 17(12): e0279437. Published online 2022 Dec 30. doi: 10.1371/journal.pone.0279437
PMCID:
PMC9803105
ArticlePDF–736K
16.
Quantitative and Qualitative Characterization of Retinal Dystrophies in Canine Models of Inherited Retinal Diseases Using Spectral Domain Optical Coherence Tomography (SD-OCT)
Shin Ae Park, Jamie Rhodes, Simone Iwabe, Gui-Shuang Ying, Wei Pan, Jiayan Huang, András M. Komáromy
Exp Eye Res. Author manuscript; available in PMC 2023 Jul 1.
Published in final edited form as: Exp Eye Res. 2022 Jul; 220: 109106. Published online 2022 May 16. doi: 10.1016/j.exer.2022.109106
PMCID:
PMC9789526
ArticlePDF–2.0M
17.
Baseline Microperimetry and OCT in the RUSH2A Study: Structure-Function Association and Correlation with Disease Severity
Eleonora M. Lad, Jacque L. Duncan, Wendi Liang, Maureen G. Maguire, Allison R. Ayala, Isabelle Audo, David G. Birch, Joseph Carroll, Janet K. Cheetham, Todd A. Durham, Abigail T. Fahim, Jessica Loo, Zengtian Deng, Dibyendu Mukherjee, Elise Heon, Robert B. Hufnagel, Bin Guan, Alessandro Iannaccone, Glenn J. Jaffe, Christine N. Kay, Michel Michaelides, Mark E. Pennesi, Ajoy Vincent, Christina Y. Weng, Sina Farsiu, Foundation Fighting Blindness Consortium Investigator Group
Am J Ophthalmol. Author manuscript; available in PMC 2023 Dec 1.
Published in final edited form as: Am J Ophthalmol. 2022 Dec; 244: 98–116. Published online 2022 Aug 22. doi: 10.1016/j.ajo.2022.08.013
PMCID:
PMC9712171
ArticlePDF–1.1M
18.
Anatomical and functional correlates of cystic macular edema in retinitis pigmentosa
Adam Ruff, Alangoya Tezel, Tongalp H. Tezel
PLoS One. 2022; 17(10): e0276629. Published online 2022 Oct 21. doi: 10.1371/journal.pone.0276629
PMCID:
PMC9586413
ArticlePDF–1.4M
19.
Susceptibility of TNFAIP8, TNFAIP8L1, and TNFAIP2 Gene Polymorphisms on Cancer Risk: A Comprehensive Review and Meta-Analysis of Case–Control Studies
Khokon Kanti Bhowmik, Md Abdul Barek, Md. Abdul Aziz, Mohammad Safiqul Islam
Technol Cancer Res Treat. 2022; 21: 15330338221123109. Published online 2022 Oct 18. doi: 10.1177/15330338221123109
PMCID:
PMC9580160
ArticlePDF–7.3M
20.
Exome Sequencing Identified Molecular Determinants of Retinal Dystrophies in Nine Consanguineous Pakistani Families
Raeesa Tehreem, Iris Chen, Mudassar Raza Shah, Yumei Li, Muzammil Ahmad Khan, Kiran Afshan, Rui Chen, Sabika Firasat
Genes (Basel) 2022 Sep; 13(9): 1630. Published online 2022 Sep 10. doi: 10.3390/genes13091630
PMCID:
PMC9498396
ArticlePDF–2.0M

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