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Select item 109946781.

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

Abstract Article PDF–529K

Select item 109689612.

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

Abstract Article PDF–11M

Select item 107062863.

Towards a Long-Read Sequencing Approach for the Molecular Diagnosis of RPGR^ORF15 Genetic Variants

Gabriele Bonetti, William Cozza, Andrea Bernini, Jurgen Kaftalli, Chiara Mareso, Francesca Cristofoli, Maria Chiara Medori, Leonardo Colombo, Salvatore Martella, Giovanni Staurenghi, Anna Paola Salvetti, Benedetto Falsini, Giorgio Placidi, Marcella Attanasio, Grazia Pertile, Mario Bengala, Francesca Bosello, Antonio Petracca, Fabiana D’Esposito, Benedetta Toschi, Paolo Lanzetta, Federico Ricci, Francesco Viola, Giuseppe Marceddu, Matteo Bertelli

Int J Mol Sci. 2023 Dec; 24(23): 16881. Published online 2023 Nov 28. doi: 10.3390/ijms242316881

PMCID:: PMC10706286

Abstract Article PDF–1.8M

Select item 106068434.

Identification of the RPGR Gene Pathogenic Variants in a Cohort of Polish Male Patients with Retinitis Pigmentosa Phenotype

Katarzyna Nowomiejska, Katarzyna Baltaziak, Paulina Całka, Marzanna Ciesielka, Grzegorz Teresiński, Robert Rejdak

Genes (Basel) 2023 Oct; 14(10): 1950. Published online 2023 Oct 17. doi: 10.3390/genes14101950

PMCID:: PMC10606843

Abstract Article PDF–6.7M

Select item 105014885.

RPGR: Deep Phenotyping and Genetic Characterization With Findings Specific to the 3′-end of ORF15

Matthew D. Benson, Souvick Mukherjee, Aime R. Agather, Delphine Blain, Denise Cunningham, Robert Mays, Xun Sun, Tiansen Li, Robert B. Hufnagel, Brian P. Brooks, Laryssa A. Huryn, Wadih M. Zein, Catherine A. Cukras

Invest Ophthalmol Vis Sci. 2023 Sep; 64(12): 19. Published online 2023 Sep 11. doi: 10.1167/iovs.64.12.19

PMCID:: PMC10501488

Abstract Article PDF–2.7M

Select item 104036396.

Skewed X-inactivation is associated with retinal dystrophy in female carriers of RPGR mutations

Muhammad Usman, Christoph Jüschke, Fei Song, Dennis Kastrati, Marta Owczarek-Lipska, Jannis Eilers, Laurenz Pauleikhoff, Clemens Lange, John Neidhardt

Life Sci Alliance. 2023 Oct; 6(10): e202201814. Published online 2023 Aug 4. doi: 10.26508/lsa.202201814

PMCID:: PMC10403639

Abstract Article PDF–2.1M

Select item 102999217.

Long-Read Nanopore Sequencing of RPGR ORF15 is Enhanced Following DNase I Treatment of MinION Flow Cells

Samar Yahya, Christopher M. Watson, Ian Carr, Martin McKibbin, Laura A. Crinnion, Morag Taylor, Hope Bonin, Tracy Fletcher, Mohammed E. El-Asrag, Manir Ali, Carmel Toomes, Chris F. Inglehearn

Mol Diagn Ther. 2023; 27(4): 525–535. Published online 2023 Jun 7. doi: 10.1007/s40291-023-00656-z

PMCID:: PMC10299921

Abstract Article PDF–3.4M

Select item 99683618.

Clinical Characteristics of High Myopia in Female Carriers of Pathogenic RPGR Mutations: A Case Series and Review of the Literature

Matthew Tran, Masha Kolesnikova, Angela H. Kim, Tia Kowal, Ke Ning, Vinit B. Mahajan, Stephen H. Tsang, Yang Sun

Ophthalmic Genet. Author manuscript; available in PMC 2024 Jun 1.

Published in final edited form as: Ophthalmic Genet. 2023 Jun; 44(3): 295–303. Published online 2022 Aug 26. doi: 10.1080/13816810.2022.2113544

PMCID:: PMC9968361

Abstract Article PDF–1.5M

Select item 98974309.

Impaired glutamylation of RPGR^ORF15 underlies the cone-dominated phenotype associated with truncating distal ORF15 variants

Jasmina Cehajic-Kapetanovic, Cristina Martinez-Fernandez de la Camara, Johannes Birtel, Salwah Rehman, Michelle E. McClements, Peter Charbel Issa, Andrew J Lotery, Robert E. MacLaren

Proc Natl Acad Sci U S A. 2022 Dec 6; 119(49): e2208707119. Published online 2022 Nov 29. doi: 10.1073/pnas.2208707119

PMCID:: PMC9897430

Abstract Article PDF–5.8M

Select item 983600910.

Microperimetry and Adaptive Optics Imaging Reveal Localized Functional and Structural Changes in Asymptomatic RPGR Mutation Carriers

Danial Roshandel, Tina M. Lamey, Jason Charng, Rachael C. Heath Jeffery, Terri L. McLaren, Jennifer A. Thompson, John N. De Roach, Samuel McLenachan, David A. Mackey, Fred K. Chen

Invest Ophthalmol Vis Sci. 2023 Jan; 64(1): 3. Published online 2023 Jan 6. doi: 10.1167/iovs.64.1.3

PMCID:: PMC9836009

Abstract Article PDF–16M

Select item 981711311.

Identification of circular RNAs hosted by the RPGR ORF15 genomic locus

Tatyana Appelbaum, Gustavo D. Aguirre, William A. Beltran

RNA Biol. 2023; 20(1): 31–47. Published online 2023 Jan 2. doi: 10.1080/15476286.2022.2159165

PMCID:: PMC9817113

Abstract Article PDF–6.0M

Select item 943393812.

Defining the proximal interaction networks of Arf GTPases reveals a mechanism for the regulation of PLD1 and PI4KB

Fu‐Long Li, Zhengming Wu, Yong‐Qi Gao, Forrest Z Bowling, J Matthew Franklin, Chongze Hu, Raymond T Suhandynata, Michael A Frohman, Michael V Airola, Huilin Zhou, Kun‐Liang Guan

EMBO J. 2022 Sep; 41(17): e110698. Published online 2022 Jul 17. doi: 10.15252/embj.2022110698

PMCID:: PMC9433938

Abstract Article PDF–9.3M

Select item 926681513.

Retrospective Natural History Study of RPGR-Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease

Marco Nassisi, Giuseppe De Bartolo, Saddek Mohand-Said, Christel Condroyer, Aline Antonio, Marie-Elise Lancelot, Kinga Bujakowska, Vasily Smirnov, Thomas Pugliese, John Neidhardt, José-Alain Sahel, Christina Zeitz, Isabelle Audo

Int J Mol Sci. 2022 Jul; 23(13): 7189. Published online 2022 Jun 28. doi: 10.3390/ijms23137189

PMCID:: PMC9266815

Abstract Article PDF–3.5M

Select item 816965414.

A novel mutation of the RPGR gene in a Chinese X-linked retinitis pigmentosa family and possible involvement of X-chromosome inactivation

Yun Wang, Lan Lu, Daren Zhang, Yueqiu Tan, Danli Li, Fen He, Xiaodong Jiao, Ming Yang, J. Fielding Hejtmancik, Xuyang Liu

Eye (Lond) 2021 Jun; 35(6): 1688–1696. Published online 2020 Aug 24. doi: 10.1038/s41433-020-01150-0

PMCID:: PMC8169654

Abstract Article PDF–2.0M

Select item 816503015.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Abstract Article PDF–2.2M

Select item 806679216.

Cone Dystrophy Associated with a Novel Variant in the Terminal Codon of the RPGR-ORF15

Vlasta Hadalin, Maja Šuštar, Marija Volk, Aleš Maver, Jana Sajovic, Martina Jarc-Vidmar, Borut Peterlin, Marko Hawlina, Ana Fakin

Genes (Basel) 2021 Apr; 12(4): 499. Published online 2021 Mar 29. doi: 10.3390/genes12040499

PMCID:: PMC8066792

Abstract Article PDF–4.3M

Select item 803764317.

The Major Ciliary Isoforms of RPGR Build Different Interaction Complexes with INPP5E and RPGRIP1L

Christine Vössing, Paul Atigbire, Jannis Eilers, Fenja Markus, Knut Stieger, Fei Song, John Neidhardt

Int J Mol Sci. 2021 Apr; 22(7): 3583. Published online 2021 Mar 30. doi: 10.3390/ijms22073583

PMCID:: PMC8037643

Abstract Article PDF–2.7M

Select item 783025318.

X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in RPGR

Friederike Kortüm, Sinja Kieninger, Pascale Mazzola, Susanne Kohl, Bernd Wissinger, Holger Prokisch, Katarina Stingl, Nicole Weisschuh

Int J Mol Sci. 2021 Jan; 22(2): 850. Published online 2021 Jan 16. doi: 10.3390/ijms22020850

PMCID:: PMC7830253

Abstract Article PDF–1.8M

Select item 782310819.

RPGR isoform imbalance causes ciliary defects due to exon ORF15 mutations in X-linked retinitis pigmentosa (XLRP)

Laura Moreno-Leon, Emma L West, Michelle O’Hara-Wright, Linjing Li, Rohini Nair, Jie He, Manisha Anand, Bhubanananda Sahu, Venkat Ramana Murthy Chavali, Alexander J Smith, Robin R Ali, Samuel G Jacobson, Artur V Cideciyan, Hemant Khanna

Hum Mol Genet. 2020 Nov 15; 29(22): 3706–3716. Published online 2020 Dec 23. doi: 10.1093/hmg/ddaa269

PMCID:: PMC7823108

Abstract Article PDF–1.5M

Select item 780748620.

X-linked dominant RPGR gene mutation in a familial Coats angiomatosis

Marcella Nebbioso, Federica Franzone, Alessandro Lambiase, Maurizio La Cava, Fabiana Mallone, Antonio Pizzuti, Enrica Marchionni

BMC Ophthalmol. 2021; 21: 37. Published online 2021 Jan 14. doi: 10.1186/s12886-020-01791-5

PMCID:: PMC7807486

Abstract Article PDF–1.3M

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