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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 104975394.

Expression of the human usherin c.2299delG mutation leads to early-onset auditory loss and stereocilia disorganization

Ryan Crane, Lars Tebbe, Maggie L. Mwoyosvi, Muayyad R. Al-Ubaidi, Muna I. Naash

Commun Biol. 2023; 6: 933. Published online 2023 Sep 12. doi: 10.1038/s42003-023-05296-x

PMCID:: PMC10497539

Abstract Article PDF–4.0M

Select item 104659665.

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 102602846.

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 102436747.

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 100483578.

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 99868179.

METTL3 protects METTL14 from STUB1‐mediated degradation to maintain m⁶A homeostasis

Zhan‐Cheng Zeng, Qi Pan, Yu‐Meng Sun, Heng‐Jing Huang, Xiao‐Tong Chen, Tian‐Qi Chen, Bo He, Hua Ye, Shun‐Xin Zhu, Ke‐Jia Pu, Ke Fang, Wei Huang, Yue‐Qin Chen, Wen‐Tao Wang

EMBO Rep. 2023 Mar; 24(3): e55762. Published online 2023 Jan 4. doi: 10.15252/embr.202255762

PMCID:: PMC9986817

Abstract Article PDF–3.5M

Select item 991842710.

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 965451111.

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 930892612.

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 894438913.

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 871786414.

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 870398915.

The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A

Luke Mansard, David Baux, Christel Vaché, Catherine Blanchet, Isabelle Meunier, Marjolaine Willems, Valérie Faugère, Corinne Baudoin, Melody Moclyn, Julie Bianchi, Helene Dollfus, Brigitte Gilbert-Dussardier, Delphine Dupin-Deguine, Dominique Bonneau, Isabelle Drumare, Sylvie Odent, Xavier Zanlonghi, Mireille Claustres, Michel Koenig, Vasiliki Kalatzis, Anne-Françoise Roux

Int J Mol Sci. 2021 Dec; 22(24): 13294. Published online 2021 Dec 10. doi: 10.3390/ijms222413294

PMCID:: PMC8703989

Abstract Article PDF–2.7M

Select item 859630216.

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 850902917.

Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush

Ana Fakin, Crystel Bonnet, Anne Kurtenbach, Saddek Mohand-Said, Ditta Zobor, Katarina Stingl, Francesco Testa, Francesca Simonelli, José-Alain Sahel, Isabelle Audo, Eberhart Zrenner, Marko Hawlina, Christine Petit

Int J Mol Sci. 2021 Oct; 22(19): 10352. Published online 2021 Sep 26. doi: 10.3390/ijms221910352

PMCID:: PMC8509029

Abstract Article PDF–2.0M

Select item 849618218.

Linking nuclear matrix–localized PIAS1 to chromatin SUMOylation via direct binding of histones H3 and H2A.Z

Zhaosu Chen, Yunpeng Zhang, Qingqing Guan, Huifang Zhang, Jing Luo, Jialun Li, Wei Wei, Xiang Xu, Lujian Liao, Jiemin Wong, Jiwen Li

J Biol Chem. 2021 Oct; 297(4): 101200. Published online 2021 Sep 17. doi: 10.1016/j.jbc.2021.101200

PMCID:: PMC8496182

Abstract Article PDF–5.8M

Select item 823272819.

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 808633020.

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

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