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Select item 109315541.

Lidia Fernández-Caballero, Inmaculada Martín-Merida, Fiona Blanco-Kelly, Almudena Avila-Fernandez, Ester Carreño, Patricia Fernandez-San Jose, Cristina Irigoyen, Belen Jimenez-Rolando, Fermina Lopez-Grondona, Ignacio Mahillo, María Pilar Martin-Gutierrez, Pablo Minguez, Irene Perea-Romero, Marta Del Pozo-Valero, Rosa Riveiro-Alvarez, Cristina Rodilla, Lidya Rodriguez-Peña, Ana Isabel Sánchez-Barbero, Saoud T. Swafiri, María José Trujillo-Tiebas, Olga Zurita, Blanca García-Sandoval, Marta Corton, Carmen Ayuso

Int J Mol Sci. 2024 Mar; 25(5): 2913. Published online 2024 Mar 2. doi: 10.3390/ijms25052913

PMCID:: PMC10931554

Abstract Article PDF–1.5M

Select item 105997962.

Prph2 disease mutations lead to structural and functional defects in the RPE

Lars Tebbe, Haarthi Sakthivel, Mustafa S. Makia, Mashal Kakakhel, Shannon M. Conley, Muayyad R. Al-Ubaidi, Muna I. Naash

FASEB J. Author manuscript; available in PMC 2023 Oct 25.

Published in final edited form as: FASEB J. 2022 May; 36(5): e22284. doi: 10.1096/fj.202101562RR

PMCID:: PMC10599796

Abstract Article PDF–4.9M

Select item 100952113.

New Insight into the Genotype-Phenotype Correlation of PRPH2-Related Diseases Based on a Large Chinese Cohort and Literature Review

Yingwei Wang, Junwen Wang, Yi Jiang, Di Zhu, Jiamin Ouyang, Zhen Yi, Shiqiang Li, Xiaoyun Jia, Xueshan Xiao, Wenmin Sun, Panfeng Wang, Qingjiong Zhang

Int J Mol Sci. 2023 Apr; 24(7): 6728. Published online 2023 Apr 4. doi: 10.3390/ijms24076728

PMCID:: PMC10095211

Abstract Article PDF–2.1M

Select item 93150694.

Delineating the Clinical Phenotype of Patients With the c.629C>G, p.Pro210Arg Mutation in Peripherin-2

Shannon M. Conley, Cynthia K. McClard, Maggie L. Mwoyosvi, Niyaf Alkadhem, Bojana Radojevic, Martin Klein, David Birch, Ashley Ellis, Sonny W. Icks, Tejesh Guddanti, Lea D. Bennett

Invest Ophthalmol Vis Sci. 2022 Jul; 63(8): 19. Published online 2022 Jul 21. doi: 10.1167/iovs.63.8.19

PMCID:: PMC9315069

Abstract Article PDF–3.2M

Select item 92908255.

PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease

Manon H. C. A Peeters, Mubeen Khan, Anoek A. M. B Rooijakkers, Timo Mulders, Lonneke Haer‐Wigman, Camiel J. F. Boon, Caroline C. W. Klaver, L. Ingeborgh van den Born, Carel B. Hoyng, Frans P. M. Cremers, Anneke I. den Hollander, Claire‐Marie Dhaenens, Rob W. J. Collin

Hum Mutat. 2021 Dec; 42(12): 1521–1547. Published online 2021 Sep 20. doi: 10.1002/humu.24275

PMCID:: PMC9290825

Abstract Article PDF–2.4M

Select item 90000556.

Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease

Jana Zernant, Winston Lee, Jun Wang, Kerry Goetz, Ehsan Ullah, Takayuki Nagasaki, Pei-Yin Su, Gerald A. Fishman, Stephen H. Tsang, Santa J. Tumminia, Brian P. Brooks, Robert B. Hufnagel, Rui Chen, Rando Allikmets

PLoS Genet. 2022 Mar; 18(3): e1010129. Published online 2022 Mar 30. doi: 10.1371/journal.pgen.1010129

PMCID:: PMC9000055

Abstract Article PDF–1.3M

Select item 86241697.

Genetic and Phenotypic Landscape of PRPH2-Associated Retinal Dystrophy in Japan

Akio Oishi, Kaoru Fujinami, Go Mawatari, Nobuhisa Naoi, Yasuhiro Ikeda, Shinji Ueno, Kazuki Kuniyoshi, Takaaki Hayashi, Hiroyuki Kondo, Atsushi Mizota, Kei Shinoda, Sentaro Kusuhara, Makoto Nakamura, Takeshi Iwata, Akitaka Tsujikawa, Kazushige Tsunoda

Genes (Basel) 2021 Nov; 12(11): 1817. Published online 2021 Nov 18. doi: 10.3390/genes12111817

PMCID:: PMC8624169

Abstract Article PDF–37M

Select item 83697288.

A novel mutation in the PRPH2 gene in a Chinese pedigree with retinitis pigmentosa and angle-closure glaucoma

Wei-ning Li, Xiu-juan Du, Yu-ting Zhang, Le-yi Wang, Jing Zhu

BMC Ophthalmol. 2021; 21: 302. Published online 2021 Aug 16. doi: 10.1186/s12886-021-02064-5

PMCID:: PMC8369728

Abstract Article PDF–1.2M

Select item 81650309.

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 803637410.

Impairments of Photoreceptor Outer Segments Renewal and Phototransduction Due to a Peripherin Rare Haplotype Variant: Insights from Molecular Modeling

Luigi Donato, Ebtesam Mohamed Abdalla, Concetta Scimone, Simona Alibrandi, Carmela Rinaldi, Karim Mahmoud Nabil, Rosalia D’Angelo, Antonina Sidoti

Int J Mol Sci. 2021 Apr; 22(7): 3484. Published online 2021 Mar 27. doi: 10.3390/ijms22073484

PMCID:: PMC8036374

Abstract Article PDF–1.6M

Select item 753053311.

ROM1 contributes to phenotypic heterogeneity in PRPH2-associated retinal disease

Daniel Strayve, Mustafa S Makia, Mashal Kakakhel, Haarthi Sakthivel, Shannon M Conley, Muayyad R Al-Ubaidi, Muna I Naash

Hum Mol Genet. 2020 Aug 15; 29(16): 2708–2722. Published online 2020 Jul 27. doi: 10.1093/hmg/ddaa160

PMCID:: PMC7530533

Abstract Article PDF–2.6M

Select item 748441912.

Genotype-phenotype associations in a large PRPH2-related retinopathy cohort

Melissa J. Reeves, Kerry E. Goetz, Bin Guan, Ehsan Ullah, Delphine Blain, Wadih M. Zein, Santa J. Tumminia, Robert B. Hufnagel

Hum Mutat. Author manuscript; available in PMC 2021 Sep 1.

Published in final edited form as: Hum Mutat. 2020 Sep; 41(9): 1528–1539. Published online 2020 Jul 5. doi: 10.1002/humu.24065

PMCID:: PMC7484419

Abstract Article PDF–1.1M

Select item 739728613.

Rosa M. Coco-Martin, Hortensia T. Sanchez-Tocino, Carmen Desco, Ricardo Usategui-Martín, Juan J. Tellería

Genes (Basel) 2020 Jul; 11(7): 773. Published online 2020 Jul 9. doi: 10.3390/genes11070773

PMCID:: PMC7397286

Abstract Article PDF–5.9M

Select item 704911114.

Multistep peripherin-2/rds self-assembly drives membrane curvature for outer segment disk architecture and photoreceptor viability

Michelle L. Milstein, Breyanna L. Cavanaugh, Nicole M. Roussey, Stefanie Volland, David S. Williams, Andrew F. X. Goldberg

Proc Natl Acad Sci U S A. 2020 Feb 25; 117(8): 4400–4410. Published online 2020 Feb 10. doi: 10.1073/pnas.1912513117

PMCID:: PMC7049111

Abstract Article PDF–2.2M

Select item 676876415.

A case–control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants

Charles J. Wolock, Nicholas Stong, Chu Jian Ma, Takayuki Nagasaki, Winston Lee, Stephen H. Tsang, Sitharthan Kamalakaran, David B. Goldstein, Rando Allikmets

Genet Med. Author manuscript; available in PMC 2019 Oct 4.

Published in final edited form as: Genet Med. 2019 Oct; 21(10): 2336–2344. Published online 2019 Mar 30. doi: 10.1038/s41436-019-0495-0