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Select item 108906391.

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

Abstract Article PDF–834K

Select item 99224682.

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

Abstract Article PDF–4.9M

Select item 91052353.

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

Abstract Article PDF–5.8M

Select item 82389964.

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

Abstract Article PDF–2.2M

Select item 73056915.

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

Abstract Article PDF–1.7M

Select item 69945766.

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

Abstract Article PDF–1.4M

Select item 65990237.

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

Abstract Article PDF–688K

Select item 64418688.

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

Abstract Article PDF–7.0M

Select item 61666829.

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

Abstract Article PDF–3.8M

Select item 511211810.

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

Abstract Article PDF–2.8M

Select item 490105411.

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

Abstract Article PDF–4.6M

Select item 472639212.

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

Abstract Article PDF–829K

Select item 430738813.

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

Abstract Article PDF–1.2M

Select item 427149114.

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

Abstract Article PDF–1.0M

Select item 418886215.

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

Abstract Article PDF–2.6M

Select item 370107516.

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

Abstract Article PDF–1.4M

Select item 368300917.

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