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Items: 1 to 20 of 34

1.
Phenotypic variability of RP1-related inherited retinal dystrophy associated with the c.5797 C > T (p.Arg1933*) variant in the Japanese population
Keigo Natsume, Taro Kominami, Kensuke Goto, Yoshito Koyanagi, Taiga Inooka, Junya Ota, Kenichi Kawano, Kazuhisa Yamada, Daishi Okuda, Kenya Yuki, Koji M. Nishiguchi, Hiroaki Ushida
Sci Rep. 2024; 14: 25669. Published online 2024 Oct 27. doi: 10.1038/s41598-024-77441-3
PMCID:
PMC11514212
AbstractArticlePDF–2.1M
2.
Cell fixation improves performance of in situ crosslinking mass spectrometry while preserving cellular ultrastructure
Andrew R. M. Michael, Bruno C. Amaral, Kallie L. Ball, Kristen H. Eiriksson, David C. Schriemer
Nat Commun. 2024; 15: 8537. Published online 2024 Oct 2. doi: 10.1038/s41467-024-52844-y
PMCID:
PMC11447256
AbstractArticlePDF–2.8M
3.
DSBSO-Based XL-MS Analysis of Breast Cancer PDX Tissues to Delineate Protein Interaction Network in Clinical Samples
Fenglong Jiao, Clinton Yu, Andrew Wheat, Lijun Chen, Tung-Shing Mamie Lih, Hui Zhang, Lan Huang
J Proteome Res. Author manuscript; available in PMC 2024 Aug 3.
Published in final edited form as: J Proteome Res. 2024 Aug 2; 23(8): 3269–3279. Published online 2024 Feb 9. doi: 10.1021/acs.jproteome.3c00832
PMCID:
PMC11296914
AbstractArticlePDF–1.7M
4.
RP1 Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod–Cone Dystrophy: Potential Founder Effect in Western Sicily
Fabiana D’Esposito, Viviana Randazzo, Maria Igea Vega, Gabriella Esposito, Paolo Enrico Maltese, Salvatore Torregrossa, Paola Scibetta, Florinda Listì, Caterina Gagliano, Lucia Scalia, Antonino Pioppo, Antonio Marino, Marco Piergentili, Emanuele Malvone, Tiziana Fioretti, Angela Vitrano, Maria Piccione, Teresio Avitabile, Francesco Salvatore, Matteo Bertelli, Ciro Costagliola, Maria Francesca Cordeiro, Aurelio Maggio, Elena D’Alcamo
Medicina (Kaunas) 2024 Feb; 60(2): 254. Published online 2024 Feb 1. doi: 10.3390/medicina60020254
PMCID:
PMC10890639
AbstractArticlePDF–834K
5.
FBXO22 promotes leukemogenesis by targeting BACH1 in MLL-rearranged acute myeloid leukemia
Xiao-Na Zhu, Yu-Sheng Wei, Qian Yang, Hao-Ran Liu, Zhe Zhi, Di Zhu, Li Xia, Deng-Li Hong, Yun Yu, Guo-Qiang Chen
J Hematol Oncol. 2023; 16: 9. Published online 2023 Feb 11. doi: 10.1186/s13045-023-01400-0
PMCID:
PMC9922468
AbstractArticlePDF–4.9M
6.
Cullin 3 Exon 9 Deletion in Familial Hyperkalemic Hypertension Impairs Cullin3-Ring-E3 Ligase (CRL3) Dynamic Regulation and Cycling
Ilektra Kouranti, Waed Abdel Khalek, Stephani Mazurkiewicz, Irmine Loisel-Ferreira, Alexis M. Gautreau, Lionel Pintard, Xavier Jeunemaitre, Eric Clauser
Int J Mol Sci. 2022 May; 23(9): 5151. Published online 2022 May 5. doi: 10.3390/ijms23095151
PMCID:
PMC9105235
AbstractArticlePDF–5.8M
7.
In Silico identification of a common mobile element insertion in exon 4 of RP1
Dongju Won, Joo-Yeon Hwang, Yeeun Shim, Suk Ho Byeon, Junwon Lee, Christopher Seungkyu Lee, Min Kim, Hyun Taek Lim, Jong Rak Choi, Seung-Tae Lee, Jinu Han
Sci Rep. 2021; 11: 13381. Published online 2021 Jun 28. doi: 10.1038/s41598-021-92834-4
PMCID:
PMC8238996
AbstractArticlePDF–2.2M
8.
Clinical heterogeneity in retinitis pigmentosa caused by variants in RP1 and RLBP1 in five extended consanguineous pedigrees
Muawyah Al-Bdour, Svenja Pauleck, Zain Dardas, Raghda Barham, Dema Ali, Sami Amr, Lina Mustafa, Mohammed Abu-Ameerh, Ranad Maswadi, Belal Azab, Abdalla Awidi
Mol Vis. 2020; 26: 445–458. Published online 2020 Jun 19.
PMCID:
PMC7305691
AbstractArticlePDF–1.7M
9.
Retinitis Pigmentosa Due to Rp1 Biallelic Variants
Rita Sousa Silva, Mariana Vallim Salles, Fabiana Louise Motta, Juliana Maria Ferraz Sallum
Sci Rep. 2020; 10: 1603. Published online 2020 Jan 31. doi: 10.1038/s41598-020-58243-9
PMCID:
PMC6994576
AbstractArticlePDF–1.4M
10.
A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy
Konstantinos Nikopoulos, Katarina Cisarova, Mathieu Quinodoz, Hanna Koskiniemi-Kuendig, Noriko Miyake, Pietro Farinelli, Atta Ur Rehman, Muhammad Imran Khan, Andrea Prunotto, Masato Akiyama, Yoichiro Kamatani, Chikashi Terao, Fuyuki Miya, Yasuhiro Ikeda, Shinji Ueno, Nobuo Fuse, Akira Murakami, Yuko Wada, Hiroko Terasaki, Koh-Hei Sonoda, Tatsuro Ishibashi, Michiaki Kubo, Frans P. M. Cremers, Zoltán Kutalik, Naomichi Matsumoto, Koji M. Nishiguchi, Toru Nakazawa, Carlo Rivolta
Nat Commun. 2019; 10: 2884. Published online 2019 Jun 28. doi: 10.1038/s41467-019-10746-4
PMCID:
PMC6599023
AbstractArticlePDF–688K
11.
POH1 contributes to hyperactivation of TGF-β signaling and facilitates hepatocellular carcinoma metastasis through deubiquitinating TGF-β receptors and caveolin-1
Boshi Wang, Xiaoli Xu, Zhaojuan Yang, Li Zhang, Yun Liu, Aihui Ma, Guiqin Xu, Ming Tang, Tiantian Jing, Lin Wu, Yongzhong Liu
EBioMedicine. 2019 Mar; 41: 320–332. Published online 2019 Feb 7. doi: 10.1016/j.ebiom.2019.01.058
PMCID:
PMC6441868
AbstractArticlePDF–7.0M
12.
Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei
Domenico Fasci, Hugo van Ingen, Richard A. Scheltema, Albert J. R. Heck
Mol Cell Proteomics. 2018 Oct; 17(10): 2018–2033. Published online 2018 Jul 18. doi: 10.1074/mcp.RA118.000924
PMCID:
PMC6166682
AbstractArticlePDF–3.8M
13.
Molecular basis for photoreceptor outer segment architecture
Andrew F. X. Goldberg, Orson L. Moritz, David S. Williams
Prog Retin Eye Res. Author manuscript; available in PMC 2017 Nov 1.
Published in final edited form as: Prog Retin Eye Res. 2016 Nov; 55: 52–81. Published online 2016 Jun 1. doi: 10.1016/j.preteyeres.2016.05.003
PMCID:
PMC5112118
AbstractArticlePDF–2.8M
14.
Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases
Firoz Kabir, Inayat Ullah, Shahbaz Ali, Alexander D.H. Gottsch, Muhammad Asif Naeem, Muhammad Zaman Assir, Shaheen N. Khan, Javed Akram, Sheikh Riazuddin, Radha Ayyagari, J. Fielding Hejtmancik, S. Amer Riazuddin
Mol Vis. 2016; 22: 610–625. Published online 2016 Jun 10.
PMCID:
PMC4901054
AbstractArticlePDF–4.6M
15.
Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa
Raquel Perez-Carro, Marta Corton, Iker Sánchez-Navarro, Olga Zurita, Noelia Sanchez-Bolivar, Rocío Sánchez-Alcudia, Stefan H. Lelieveld, Elena Aller, Miguel Angel Lopez-Martinez, Mª Isabel López-Molina, Patricia Fernandez-San Jose, Fiona Blanco-Kelly, Rosa Riveiro-Alvarez, Christian Gilissen, Jose M Millan, Almudena Avila-Fernandez, Carmen Ayuso
Sci Rep. 2016; 6: 19531. Published online 2016 Jan 25. doi: 10.1038/srep19531
Correction in:
Sci Rep. 2016; 6: 24843.
PMCID:
PMC4726392
AbstractArticlePDF–829K
16.
Targeted Next Generation Sequencing Identifies Novel Mutations in RP1 as a Relatively Common Cause of Autosomal Recessive Rod-Cone Dystrophy
Said El Shamieh, Elise Boulanger-Scemama, Marie-Elise Lancelot, Aline Antonio, Vanessa Démontant, Christel Condroyer, Mélanie Letexier, Jean-Paul Saraiva, Saddek Mohand-Saïd, José-Alain Sahel, Isabelle Audo, Christina Zeitz
Biomed Res Int. 2015; 2015: 485624. Published online 2015 Jan 6. doi: 10.1155/2015/485624
PMCID:
PMC4307388
AbstractArticlePDF–1.2M
17.
Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree
Cristina Méndez-Vidal, Nereida Bravo-Gil, María González-del Pozo, Alicia Vela-Boza, Joaquín Dopazo, Salud Borrego, Guillermo Antiñolo
BMC Genet. 2014; 15: 143. Published online 2014 Dec 14. doi: 10.1186/s12863-014-0143-2
PMCID:
PMC4271491
AbstractArticlePDF–1.0M
18.
A Murine Rp1 Missense Mutation Causes Protein Mislocalization and Slowly Progressive Photoreceptor Degeneration
Delu Song, Steve Grieco, Yafeng Li, Allan Hunter, Sally Chu, Liangliang Zhao, Ying Song, Robert A. DeAngelis, Lan-Ying Shi, Qin Liu, Eric A. Pierce, Patsy M. Nishina, John D. Lambris, Joshua L. Dunaief
Am J Pathol. 2014 Oct; 184(10): 2721–2729. doi: 10.1016/j.ajpath.2014.06.010
PMCID:
PMC4188862
AbstractArticlePDF–2.6M
19.
RP1 Is a Phosphorylation Target of CK2 and Is Involved in Cell Adhesion
Frank Stenner, Heike Liewen, Stephan Göttig, Reinhard Henschler, Norbert Markuly, Sascha Kleber, Michael Faust, Axel Mischo, Stefan Bauer, Martin Zweifel, Alexander Knuth, Christoph Renner, Andreas Wadle
PLoS One. 2013; 8(7): e67595. Published online 2013 Jul 3. doi: 10.1371/journal.pone.0067595
PMCID:
PMC3701075
AbstractArticlePDF–1.4M
20.
Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis
Marta Corton, Koji M. Nishiguchi, Almudena Avila-Fernández, Konstantinos Nikopoulos, Rosa Riveiro-Alvarez, Sorina D. Tatu, Carmen Ayuso, Carlo Rivolta
PLoS One. 2013; 8(6): e65574. Published online 2013 Jun 14. doi: 10.1371/journal.pone.0065574
Correction in:
PLoS One. 2016; 11(3): e0153121.
PMCID:
PMC3683009
AbstractArticlePDF–389K

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