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Select item 110598181.

miR-26 Deficiency Causes Alterations in Lens Transcriptome and Results in Adult-Onset Cataract

Anil Upreti, Thanh V. Hoang, Minghua Li, Jared A. Tangeman, David S. Dierker, Brad D. Wagner, Panagiotis A. Tsonis, Chun Liang, Salil A. Lachke, Michael L. Robinson

Invest Ophthalmol Vis Sci. 2024 Apr; 65(4): 42. Published online 2024 Apr 29. doi: 10.1167/iovs.65.4.42

PMCID:: PMC11059818

Abstract Article PDF–2.3M

Select item 109952952.

Association of autoimmune and allergic diseases with senile cataract: a bidirectional two-sample Mendelian randomization study

Weichen Yuan, Xiangrui Li, Guan Wang, Bo Qu, Fangkun Zhao

Front Immunol. 2024; 15: 1325868. Published online 2024 Mar 22. doi: 10.3389/fimmu.2024.1325868

PMCID:: PMC10995295

Abstract Article PDF–2.1M

Select item 109188853.

Clinical features and genetic spectrum of a multicenter Chinese cohort with myotonic dystrophy type 1

Huahua Zhong, Li Zeng, Xuefan Yu, Qing Ke, Jihong Dong, Yan Chen, Lijun Luo, Xueli Chang, Junhong Guo, Yiqi Wang, Hui Xiong, Rongrong Liu, Changxia Liu, Jibao Wu, Jie Lin, Jianying Xi, Wenhua Zhu, Song Tan, Fuchen Liu, Jiahong Lu, Chongbo Zhao, Sushan Luo

Orphanet J Rare Dis. 2024; 19: 103. Published online 2024 Mar 7. doi: 10.1186/s13023-024-03114-z

PMCID:: PMC10918885

Abstract Article PDF–1.0M

Select item 105991644.

Molecular and Phenotypic Characterization of Ocular Methicillin-Resistant Staphylococcus epidermidis Isolates in Taiwan

Yin-Hsi Chang, Yhu-Chering Huang, Hung-Chi Chen, David H. K. Ma, Lung-Kun Yeh, Kuo-Hsuan Hung, Ching-Hsi Hsiao

Invest Ophthalmol Vis Sci. 2023 Oct; 64(13): 33. Published online 2023 Oct 20. doi: 10.1167/iovs.64.13.33

PMCID:: PMC10599164

Abstract Article PDF–592K

Select item 104960475.

Mutational spectrum in a Chinese cohort with congenital cataracts

Hong‐Li Liu, Dao‐Wei Zhang, Fang‐Yuan Hu, Ping Xu, Sheng‐Hai Zhang, Ji‐Hong Wu

Mol Genet Genomic Med. 2023 Sep; 11(9): e2196. Published online 2023 Jun 20. doi: 10.1002/mgg3.2196

PMCID:: PMC10496047

Abstract Article PDF–584K

Select item 100481766.

Evaluation of Genetic Testing in a Cohort of Diverse Pediatric Patients in the United States with Congenital Cataracts

Jennifer L. Rossen, Brenda L. Bohnsack, Kevin X. Zhang, Alexander Ing, Andy Drackley, Valerie Castelluccio, Hanta Ralay-Ranaivo

Genes (Basel) 2023 Mar; 14(3): 608. Published online 2023 Feb 28. doi: 10.3390/genes14030608

PMCID:: PMC10048176

Abstract Article PDF–651K

Select item 97492897.

Prospective cholestanol screening of cerebrotendinous xanthomatosis among patients with juvenile-onset unexplained bilateral cataracts

Gorka Fernández-Eulate, Gilles C. Martin, Pascal Dureau, Claude Speeg-Spatz, Anais Brassier, Perrine Gillard, Dominique Bremond-Gignac, Dominique Thouvenin, Cecile Pagan, Foudil Lamari, Yann Nadjar

Orphanet J Rare Dis. 2022; 17: 434. Published online 2022 Dec 13. doi: 10.1186/s13023-022-02591-4

PMCID:: PMC9749289

Abstract Article PDF–928K

Select item 95819498.

Genotypic spectrum and phenotype correlations of EYS-associated disease in a Chinese cohort

Feng-Juan Gao, Dan-Dan Wang, Fang-Yuan Hu, Ping Xu, Qing Chang, Jian-Kang Li, Wei Liu, Sheng-Hai Zhang, Ge-Zhi Xu, Ji-Hong Wu

Eye (Lond) 2022 Nov; 36(11): 2122–2129. Published online 2021 Oct 23. doi: 10.1038/s41433-021-01794-6

PMCID:: PMC9581949

Abstract Article PDF–1.7M

Select item 95020639.

Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement

Rauan Kaiyrzhanov, Sami E.M. Mohammed, Reza Maroofian, Ralf A. Husain, Alessia Catania, Alessandra Torraco, Ahmad Alahmad, Marina Dutra-Clarke, Sabine Grønborg, Annapurna Sudarsanam, Julie Vogt, Filippo Arrigoni, Julia Baptista, Shahzad Haider, René G. Feichtinger, Paolo Bernardi, Alessandra Zulian, Mirjana Gusic, Stephanie Efthymiou, Renkui Bai, Farah Bibi, Alejandro Horga, Julian A. Martinez-Agosto, Amanda Lam, Andreea Manole, Diego-Perez Rodriguez, Romina Durigon, Angela Pyle, Buthaina Albash, Carlo Dionisi-Vici, David Murphy, Diego Martinelli, Enrico Bugiardini, Katrina Allis, Costanza Lamperti, Siegfried Reipert, Lotte Risom, Lucia Laugwitz, Michela Di Nottia, Robert McFarland, Laura Vilarinho, Michael Hanna, Holger Prokisch, Johannes A. Mayr, Enrico Silvio Bertini, Daniele Ghezzi, Elsebet Østergaard, Saskia B. Wortmann, Rosalba Carrozzo, Tobias B. Haack, Robert W. Taylor, Antonella Spinazzola, Karin Nowikovsky, Henry Houlden

Am J Hum Genet. 2022 Sep 1; 109(9): 1692–1712. Published online 2022 Sep 1. doi: 10.1016/j.ajhg.2022.07.007

PMCID:: PMC9502063

Abstract Article PDF–3.8M

Select item 835283510.

MicroRNAs in the aqueous humor of patients with different types of glaucoma

Ewa Kosior-Jarecka, Marcin Czop, Karolina Gasińska, Dominika Wróbel-Dudzińska, Daniel P. Zalewski, Anna Bogucka-Kocka, Janusz Kocki, Tomasz Żarnowski

Graefes Arch Clin Exp Ophthalmol. 2021; 259(8): 2337–2349. Published online 2021 Apr 30. doi: 10.1007/s00417-021-05214-z

PMCID:: PMC8352835

Abstract Article PDF–1.4M

Select item 829502911.

A novel homozygous variant in JAM3 gene causing hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts (HDBSCC) with neonatal onset

Domenico Umberto De Rose, Francesca Gallini, Domenica Immacolata Battaglia, Eloisa Tiberi, Simona Gaudino, Ilaria Contaldo, Chiara Veredice, Domenico Marco Romeo, Luca Massimi, Alessia Asaro, Cristina Cereda, Giovanni Vento, Eugenio Maria Mercuri

Neurol Sci. 2021; 42(11): 4759–4765. Published online 2021 Jul 22. doi: 10.1007/s10072-021-05480-z

PMCID:: PMC8295029

Abstract Article PDF–1.6M

Select item 823889312.

Identification of missense MAB21L1 variants in microphthalmia and aniridia

Sarah E. Seese, Linda M. Reis, Brett Deml, Christopher Griffith, Adi Reich, Robyn V. Jamieson, Elena V. Semina

Hum Mutat. 2021 Jul; 42(7): 877–890. Published online 2021 May 24. doi: 10.1002/humu.24218

PMCID:: PMC8238893

Abstract Article PDF–1.7M

Select item 820456713.

The engineered expression of secreted HSPB5-Fc in CHO cells exhibits cytoprotection in vitro

Jing Li, Jingjing Yu, Wenxian Xue, Huili Huang, Longjun Yan, Fan Sang, Shuangshuang An, Jing Zhang, Mingli Wang, Jun Zhang, Hui Li, Xiukun Cui, Jiang He, Yanzhong Hu

BMC Biotechnol. 2021; 21: 39. Published online 2021 Jun 14. doi: 10.1186/s12896-021-00700-y

PMCID:: PMC8204567

Abstract Article PDF–4.2M

Select item 776425214.

Effect of a Lens Protein in Low-Temperature Culture of Novel Immortalized Human Lens Epithelial Cells (iHLEC-NY2)

Naoki Yamamoto, Shun Takeda, Natsuko Hatsusaka, Noriko Hiramatsu, Noriaki Nagai, Saori Deguchi, Yosuke Nakazawa, Takumi Takata, Sachiko Kodera, Akimasa Hirata, Eri Kubo, Hiroshi Sasaki

Cells. 2020 Dec; 9(12): 2670. Published online 2020 Dec 11. doi: 10.3390/cells9122670