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Select item 112653351.

A large-scale screening identified in USH2A gene the P3272L founder pathogenic variant explaining familial Usher syndrome in Sardinia, Italy

Rita Serra, Vincenzo Rallo, Maristella Steri, Stefania Olla, Maria Grazia Piras, Michele Marongiu, Myriam Gorospe, David Schlessinger, Antonio Pinna, Edoardo Fiorillo, Francesco Cucca, Andrea Angius

BMC Ophthalmol. 2024; 24: 306. Published online 2024 Jul 23. doi: 10.1186/s12886-024-03578-4

PMCID:: PMC11265335

Abstract Article PDF–2.4M

Select item 111792092.

High prevalence of exon-13 variants in USH2A-related retinal dystrophies in Taiwanese population

Yu-Wei Lin, Yu-Shu Huang, Chien-Yu Lin, Chao-Wen Lin, Chen-Chi Wu, Chang-Hao Yang, Chung-May Yang, Pei-Lung Chen, Ta-Ching Chen

Orphanet J Rare Dis. 2024; 19: 238. Published online 2024 Jun 15. doi: 10.1186/s13023-024-03238-2

PMCID:: PMC11179209

Abstract Article PDF–2.0M

Select item 110870213.

Change in Cone Structure Over 24 Months in USH2A-Related Retinal Degeneration

JACQUE L. DUNCAN, WENDI LIANG, MAUREEN G. MAGUIRE, TRAVIS C. PORCO, JESSICA WONG, ISABELLE AUDO, JENNA A. CAVA, KATE GRIEVE, ANGELOS KALITZEOS, JOSEPH KREIS, MICHEL MICHAELIDES, NATHANIEL NORBERG, MICHEL PAQUES, JOSEPH CARROLL

Am J Ophthalmol. Author manuscript; available in PMC 2024 Aug 1.

Published in final edited form as: Am J Ophthalmol. 2023 Aug; 252: 77–93. Published online 2023 Mar 21. doi: 10.1016/j.ajo.2023.03.006

PMCID:: PMC11087021

Abstract Article PDF–1.6M

Select item 104659664.

USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids

Carla Sanjurjo-Soriano, Carla Jimenez-Medina, Nejla Erkilic, Luisina Cappellino, Arnaud Lefevre, Kerstin Nagel-Wolfrum, Uwe Wolfrum, Erwin Van Wijk, Anne-Françoise Roux, Isabelle Meunier, Vasiliki Kalatzis

HGG Adv. 2023 Oct 12; 4(4): 100229. Published online 2023 Aug 7. doi: 10.1016/j.xhgg.2023.100229

PMCID:: PMC10465966

Abstract Article PDF–6.9M

Select item 102602845.

USH2A mutation and specific driver mutation subtypes are associated with clinical efficacy of immune checkpoint inhibitors in lung cancer

Dexin YANG, Yuqin FENG, Haohua LU, Kelie CHEN, Jinming XU, Peiwei LI, Tianru WANG, Dajing XIA, Yihua WU

J Zhejiang Univ Sci B. 2023 Feb 15; 24(2): 143–156. doi: 10.1631/jzus.B2200292

PMCID:: PMC10260284

Abstract Article PDF–4.1M

Select item 102436746.

USH2A mutational spectrum causing syndromic and non-syndromic retinal dystrophies in a large cohort of Mexican patients

Vianey Ordoñez-Labastida, Oscar F. Chacon-Camacho, Victor R. Lopez-Rodriguez, Juan C. Zenteno

Mol Vis. 2023; 29: 31–38. Published online 2023 Apr 29.

PMCID:: PMC10243674

Abstract Article PDF–513K

Select item 100483577.

Natural Disease Course in Usher Syndrome Patients Harboring USH2A Variant p.Cys870* in Exon 13, Amenable to Exon Skipping Therapy

Katja Čadonič, Jana Sajovic, Marko Hawlina, Ana Fakin

Genes (Basel) 2023 Mar; 14(3): 652. Published online 2023 Mar 5. doi: 10.3390/genes14030652

PMCID:: PMC10048357

Abstract Article PDF–3.9M

Select item 99184278.

Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction

Janine Reurink, Nicole Weisschuh, Alejandro Garanto, Adrian Dockery, L. Ingeborgh van den Born, Isabelle Fajardy, Lonneke Haer-Wigman, Susanne Kohl, Bernd Wissinger, G. Jane Farrar, Tamar Ben-Yosef, Fatma Kivrak Pfiffner, Wolfgang Berger, Marianna E. Weener, Lubica Dudakova, Petra Liskova, Dror Sharon, Manar Salameh, Ashley Offenheim, Elise Heon, Giorgia Girotto, Paolo Gasparini, Anna Morgan, Arthur A. Bergen, Jacoline B. ten Brink, Caroline C.W. Klaver, Lisbeth Tranebjærg, Nanna D. Rendtorff, Sascha Vermeer, Jeroen J. Smits, Ronald J.E. Pennings, Marco Aben, Jaap Oostrik, Galuh D.N. Astuti, Jordi Corominas Galbany, Hester Y. Kroes, Milan Phan, Wendy A.G. van Zelst-Stams, Alberta A.H.J. Thiadens, Joke B.G.M. Verheij, Mary J. van Schooneveld, Suzanne E. de Bruijn, Catherina H.Z. Li, Carel B. Hoyng, Christian Gilissen, Lisenka E.L.M. Vissers, Frans P.M. Cremers, Hannie Kremer, Erwin van Wijk, Susanne Roosing

HGG Adv. 2023 Apr 13; 4(2): 100181. Published online 2023 Jan 18. doi: 10.1016/j.xhgg.2023.100181

PMCID:: PMC9918427

Abstract Article PDF–1.9M

Select item 96545119.

Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in USH2A

Janine Reurink, Jaap Oostrik, Marco Aben, Mariana Guimarães Ramos, Emma van Berkel, Monika Ołdak, Erwin van Wijk, Hannie Kremer, Susanne Roosing, Frans P. M. Cremers

Int J Mol Sci. 2022 Nov; 23(21): 13343. Published online 2022 Nov 1. doi: 10.3390/ijms232113343

PMCID:: PMC9654511

Abstract Article PDF–1.2M

Select item 930892610.

Novel mutations of the USH2A gene cause Usher syndrome in five Chinese families

Dongjun Xing, Rongguo Yu, Linni Wang, Liying Hu, Yang Yang, Chang Li, Zhiqing Li, Xiaorong Li

BMC Ophthalmol. 2022; 22: 317. Published online 2022 Jul 23. doi: 10.1186/s12886-022-02532-6

PMCID:: PMC9308926

Abstract Article PDF–2.0M

Select item 894438911.

The RUSH2A Study: Dark-Adapted Visual Fields in Patients With Retinal Degeneration Associated With Biallelic Variants in the USH2A Gene

David G. Birch, Lassana Samarakoon, Michele Melia, Jacque L. Duncan, Allison R. Ayala, Isabelle Audo, Janet K. Cheetham, Todd A. Durham, Alessandro Iannaccone, Mark E. Pennesi, Katarina Stingl, for the Foundation Fighting Blindness Consortium Investigator Group

Invest Ophthalmol Vis Sci. 2022 Mar; 63(3): 17. Published online 2022 Mar 16. doi: 10.1167/iovs.63.3.17

PMCID:: PMC8944389

Abstract Article PDF–1.7M

Select item 871786412.

Auditory and Olfactory Findings in Patients with USH2A-related Retinal Degeneration – Findings at Baseline from the Rate of Progression in USH2A-related Retinal Degeneration Natural History Study (RUSH2A)

Alessandro Iannaccone, Carmen C. Brewer, Peiyao Cheng, Jacque L. Duncan, Maureen G. Maguire, Isabelle Audo, Allison R. Ayala, Paul S. Bernstein, Gavin M. Bidelman, Janet K. Cheetham, Richard L. Doty, Todd A. Durham, Robert B. Hufnagel, Mark H. Myers, Katarina Stingl, Wadih M. Zein, Foundation Fighting Blindness Consortium Investigator Group

Am J Med Genet A. Author manuscript; available in PMC 2022 Dec 1.

Published in final edited form as: Am J Med Genet A. 2021 Dec; 185(12): 3717–3727. Published online 2021 Jul 30. doi: 10.1002/ajmg.a.62437

PMCID:: PMC8717864

Abstract Article PDF–391K

Select item 859630213.

Baseline Visual Field Findings in the RUSH2A Study: Associated Factors and Correlation with Other Measures of Disease Severity

Jacque L. Duncan, Wendi Liang, Maureen G. Maguire, Isabelle Audo, Allison R. Ayala, David G. Birch, Joseph Carroll, Janet K. Cheetham, Simona Degli Esposti, Todd A. Durham, Laura Erker, Sina Farsiu, Frederick L. Ferris, III, Elise Heon, Robert B. Hufnagel, Alessandro F. Iannaccone, Glenn J. Jaffe, Christine N. Kay, Michel Michaelides, Mark E. Pennesi, José-Alain Sahel, Foundation Fighting Blindness Consortium Investigator Group

Am J Ophthalmol. Author manuscript; available in PMC 2021 Nov 17.

Published in final edited form as: Am J Ophthalmol. 2020 Nov; 219: 87–100. Published online 2020 May 22. doi: 10.1016/j.ajo.2020.05.024

PMCID:: PMC8596302

Article PDF–818K

Select item 823272814.

Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases

Janine Reurink, Adrian Dockery, Dominika Oziębło, G. Jane Farrar, Monika Ołdak, Jacoline B. ten Brink, Arthur A. Bergen, Tuula Rinne, Helger G. Yntema, Ronald J. E. Pennings, L. Ingeborgh van den Born, Marco Aben, Jaap Oostrik, Hanka Venselaar, Astrid S. Plomp, M. Imran Khan, Erwin van Wijk, Frans P. M. Cremers, Susanne Roosing, Hannie Kremer

Int J Mol Sci. 2021 Jun; 22(12): 6419. Published online 2021 Jun 15. doi: 10.3390/ijms22126419

PMCID:: PMC8232728

Abstract Article PDF–1.7M

Select item 808633015.

USH2A gene variants cause Keratoconus and Usher syndrome phenotypes in Pakistani families

Asif Naveed Ahmed, Raheel Tahir, Niamat Khan, Mushtaq Ahmad, Muhammad Dawood, Abdul Basit, Muhammad Yasin, Maha Nowshid, Muhammad Marwan, Komal Sultan, Shamim Saleha

BMC Ophthalmol. 2021; 21: 191. Published online 2021 Apr 29. doi: 10.1186/s12886-021-01957-9

PMCID:: PMC8086330

Abstract Article PDF–898K

Select item 778822316.

Prevalence and genetic–phenotypic characteristics of patients with USH2A mutations in a large cohort of Chinese patients with inherited retinal disease

Feng-Juan Gao, Dan-Dan Wang, Fang Chen, Hao-Xiang Sun, Fang-Yuan Hu, Ping Xu, Jiankang Li, Wei Liu, Yu-He Qi, Wei Li, Ming Wang, Shenghai Zhang, Ge-Zhi Xu, Qing Chang, Ji-Hong Wu

Br J Ophthalmol. 2021 Jan; 105(1): 87–92. Published online 2020 Mar 18. doi: 10.1136/bjophthalmol-2020-315878

PMCID:: PMC7788223

Abstract Article PDF–583K

Select item 772722017.

Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report

Dongjun Xing, Huaiyu Zhou, Rongguo Yu, Linni Wang, Liying Hu, Zhiqing Li, Xiaorong Li

BMC Ophthalmol. 2020; 20: 485. Published online 2020 Dec 10. doi: 10.1186/s12886-020-01711-7

PMCID:: PMC7727220

Abstract Article PDF–1.4M

Select item 766735218.

Multimodal imaging and genetic characteristics of Chinese patients with USH2A‐associated nonsyndromic retinitis pigmentosa

Chong Chen, Qiao Sun, Mingmin Gu, Tianwei Qian, Dawei Luo, Kun Liu, Xun Xu, Suqin Yu

Mol Genet Genomic Med. 2020 Nov; 8(11): e1479. Published online 2020 Sep 6. doi: 10.1002/mgg3.1479

PMCID:: PMC7667352

Abstract Article PDF–2.7M

Select item 765993619.

Truncating Variants Contribute to Hearing Loss and Severe Retinopathy in USH2A-Associated Retinitis Pigmentosa in Japanese Patients

Akira Inaba, Akiko Maeda, Akiko Yoshida, Kanako Kawai, Yasuhiko Hirami, Yasuo Kurimoto, Shinji Kosugi, Masayo Takahashi

Int J Mol Sci. 2020 Nov; 21(21): 7817. Published online 2020 Oct 22. doi: 10.3390/ijms21217817

PMCID:: PMC7659936

Abstract Article PDF–9.1M

Select item 745366120.

Novel compound heterozygous nonsense variants, p.L150* and p.Y3565*, of the USH2A gene in a Chinese pedigree are associated with Usher syndrome type IIA

Jiewen Fu, Jingliang Cheng, Qi Zhou, Md. Asaduzzaman Khan, Chengxia Duan, Jiangzhou Peng, Hongbin Lv, Junjiang Fu

Mol Med Rep. 2020 Oct; 22(4): 3464–3472. Published online 2020 Aug 3. doi: 10.3892/mmr.2020.11400

PMCID:: PMC7453661

Abstract Article PDF–916K

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