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Select item 92680791.

Development and Evaluation from Laboratory to Field Trial of a Dual-Purpose Fracturing Nanofluid: Inhibition of Associated Formation Damage and Increasing Heavy Crude Oil Mobility

María A. Giraldo, Richard D. Zabala, Jorge I. Bahamón, Juan M. Ulloa, José M. Usurriaga, José C. Cárdenas, Camilo Mazo, Juan D. Guzmán, Sergio H. Lopera, Camilo A. Franco, Farid B. Cortés

Nanomaterials (Basel) 2022 Jul; 12(13): 2195. Published online 2022 Jun 26. doi: 10.3390/nano12132195

PMCID:: PMC9268079

Abstract Article PDF–4.3M

Select item 111161542.

儿童轻中度感音神经性听力损失的遗传特征分析

周睿, 关静, 王秋菊

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2024 Jan 3; 38(1): 18–22. Chinese. doi: 10.13201/j.issn.2096-7993.2024.01.003

PMCID:: PMC11116154

Abstract Article PDF–683K

Select item 111061483.

Genetic profile of syndromic retinitis pigmentosa in Portugal

Telmo Cortinhal, Cristina Santos, Sara Vaz-Pereira, Ana Marta, Lilianne Duarte, Vitor Miranda, José Costa, Ana Berta Sousa, Virginie G. Peter, Karolina Kaminska, Carlo Rivolta, Ana Luísa Carvalho, Jorge Saraiva, Célia Azevedo Soares, Rufino Silva, Joaquim Murta, Luísa Coutinho Santos, João Pedro Marques

Graefes Arch Clin Exp Ophthalmol. 2024; 262(6): 1883–1897. Published online 2024 Jan 8. doi: 10.1007/s00417-023-06360-2

PMCID:: PMC11106148

Abstract Article PDF–1.5M

Select item 110531294.

Metabolomics facilitates differential diagnosis in common inherited retinal degenerations by exploring their profiles of serum metabolites

Wei-Chieh Wang, Chu-Hsuan Huang, Hsin-Hsiang Chung, Pei-Lung Chen, Fung-Rong Hu, Chang-Hao Yang, Chung-May Yang, Chao-Wen Lin, Cheng-Chih Hsu, Ta-Ching Chen

Nat Commun. 2024; 15: 3562. Published online 2024 Apr 26. doi: 10.1038/s41467-024-47911-3

PMCID:: PMC11053129

Abstract Article PDF–3.0M

Select item 108816395.

Screening copy number variations in 35 unsolved inherited retinal disease families

Xiaozhen Liu, Hehua Dai, Genlin Li, Ruixuan Jia, Xiang Meng, Shicheng Yu, Liping Yang, Jing Hong

Hum Genet. 2024; 143(2): 197–210. Published online 2024 Jan 29. doi: 10.1007/s00439-023-02631-4

PMCID:: PMC10881639

Abstract Article PDF–9.3M

Select item 108603286.

Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico

Rocio A. Villafuerte-de la Cruz, Lucas A. Garza-Garza, Manuel Garza-Leon, Cesar Rodriguez-De la Torre, Cinthya Parra-Bernal, Ilse Vazquez-Camas, David Ramos-Gonzalez, Andrea Rangel-Padilla, Angelina Espino Barros-Palau, Jose Nava-García, Javier Castillo-Velazquez, Erick Castillo-De Leon, Agustin Del Valle-Penella, Jorge E. Valdez-Garcia, Augusto Rojas-Martinez

BMC Ophthalmol. 2024; 24: 60. Published online 2024 Feb 12. doi: 10.1186/s12886-023-03276-7

PMCID:: PMC10860328

Abstract Article PDF–1.1M

Select item 107162687.

Multimodal photoacoustic microscopy, optical coherence tomography, and fluorescence imaging of USH2A knockout rabbits

Van Phuc Nguyen, Justin Hu, Josh Zhe, Eugene Y. Chen, Dongshan Yang, Yannis M. Paulus

Sci Rep. 2023; 13: 22071. Published online 2023 Dec 12. doi: 10.1038/s41598-023-48872-1

PMCID:: PMC10716268

Abstract Article PDF–2.3M

Select item 106580808.

Allelic hierarchy for USH2A influences auditory and visual phenotypes in South Korean patients

Dong Woo Nam, Yong Keun Song, Jeong Hun Kim, Eun Kyoung Lee, Kyu Hyung Park, JuHyuen Cha, Byung Yoon Choi, Jun Ho Lee, Seung Ha Oh, Dong Hyun Jo, Sang-Yeon Lee

Sci Rep. 2023; 13: 20239. Published online 2023 Nov 19. doi: 10.1038/s41598-023-47166-w

PMCID:: PMC10658080

Abstract Article PDF–1.6M

Select item 105311659.

Foveal Hypoplasia in CRB1-Related Retinopathies

Ana Catalina Rodriguez-Martinez, Bethany Elora Higgins, Vijay Tailor-Hamblin, Samantha Malka, Riccardo Cheloni, Alexander Mark Collins, John Bladen, Robert Henderson, Mariya Moosajee

Int J Mol Sci. 2023 Sep; 24(18): 13932. Published online 2023 Sep 11. doi: 10.3390/ijms241813932

PMCID:: PMC10531165

Abstract Article PDF–1.4M

Select item 1046596610.

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 1045466811.

A Comprehensive Report of Intrinsically Disordered Regions in Inherited Retinal Diseases

Karen E. Lee, Jose S. Pulido, Mariana M. da Palma, Rebecca Procopio, Robert B. Hufnagel, Margaret Reynolds

Genes (Basel) 2023 Aug; 14(8): 1601. Published online 2023 Aug 8. doi: 10.3390/genes14081601

PMCID:: PMC10454668

Abstract Article PDF–1.5M

Select item 1044568212.

Natural history of retinitis pigmentosa based on genotype, vitamin A/E supplementation, and an electroretinogram biomarker

Jason Comander, Carol Weigel DiFranco, Kit Sanderson, Emily Place, Matthew Maher, Erin Zampaglione, Yan Zhao, Rachel M. Huckfeldt, Kinga M. Bujakowska, Eric Pierce

JCI Insight. 2023 Aug 8; 8(15): e167546. Published online 2023 Aug 8. doi: 10.1172/jci.insight.167546

PMCID:: PMC10445682

Abstract Article PDF–2.1M

Select item 1043121113.

Rod and Cone Function Measured Objectively by Chromatic Pupil Campimetry Show a Different Preservation Between Distinct Genotypes in Retinitis Pigmentosa

Carina Kelbsch, Melanie Kempf, Ronja Jung, Friederike Kortüm, Milda Reith, Laura Kuehlewein, Susanne Kohl, Torsten Strasser, Tobias Peters, Helmut Wilhelm, Barbara Wilhelm, Krunoslav Stingl, Katarina Stingl

Invest Ophthalmol Vis Sci. 2023 Aug; 64(11): 18. Published online 2023 Aug 14. doi: 10.1167/iovs.64.11.18

PMCID:: PMC10431211

Abstract Article PDF–1.7M

Select item 1036292514.

Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review

Kirk A. J. Stephenson, Laura Whelan, Julia Zhu, Adrian Dockery, Niamh C. Wynne, Rebecca M. Cairns, Claire Kirk, Jacqueline Turner, Emma S. Duignan, James J. O'Byrne, Giuliana Silvestri, Paul F. Kenna, G. Jane Farrar, David J. Keegan

Invest Ophthalmol Vis Sci. 2023 Jul; 64(10): 23. Published online 2023 Jul 19. doi: 10.1167/iovs.64.10.23

PMCID:: PMC10362925

Abstract Article PDF–794K

Select item 1024367415.

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 1021992616.

Targeted adaptive long-read sequencing for discovery of complex phased variants in inherited retinal disease patients

Kenji Nakamichi, Russell N. Van Gelder, Jennifer R. Chao, Debarshi Mustafi

Sci Rep. 2023; 13: 8535. Published online 2023 May 26. doi: 10.1038/s41598-023-35791-4

PMCID:: PMC10219926

Abstract Article PDF–2.4M

Select item 1021801717.

Genotypic Profile and Clinical Characteristics of CRX-Associated Retinopathy in Koreans

Dong Geun Kim, Kwangsic Joo, Jinu Han, Mihyun Choi, Seong-Woo Kim, Kyu Hyung Park, Sang Jun Park, Christopher Seungkyu Lee, Suk Ho Byeon, Se Joon Woo

Genes (Basel) 2023 May; 14(5): 1057. Published online 2023 May 8. doi: 10.3390/genes14051057

PMCID:: PMC10218017

Abstract Article PDF–3.7M

Select item 1014647318.

A Review of CRISPR Tools for Treating Usher Syndrome: Applicability, Safety, Efficiency, and In Vivo Delivery

Lauren Major, Michelle E. McClements, Robert E. MacLaren

Int J Mol Sci. 2023 Apr; 24(8): 7603. Published online 2023 Apr 20. doi: 10.3390/ijms24087603

PMCID:: PMC10146473

Abstract Article PDF–5.2M

Select item 1004835719.

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 1003906720.

Temporal and spatial assembly of inner ear hair cell ankle link condensate through phase separation

Huang Wang, Haibo Du, Rui Ren, Tingting Du, Lin Lin, Zhe Feng, Dange Zhao, Xiaoxi Wei, Xiaoyan Zhai, Hongyang Wang, Tingting Dong, Jin-Peng Sun, Hao Wu, Zhigang Xu, Qing Lu

Nat Commun. 2023; 14: 1657. Published online 2023 Mar 24. doi: 10.1038/s41467-023-37267-5