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Items: 1 to 20 of 200

1.
Chitin deacetylases Cod4 and Cod7 are involved in polar growth of Aspergillus fumigatus
Mingming Xie, Xiaobing Zhao, Yang Lü, Cheng Jin
Microbiologyopen. 2020 Jan; 9(1): e00943. Published online 2019 Oct 11. doi: 10.1002/mbo3.943
PMCID:
PMC6957412
ArticlePubReaderPDF–2.0MCite
2.
Identification of Sec36p, Sec37p, and Sec38p: Components of Yeast Complex That Contains Sec34p and Sec35p
Rachna J. Ram, Baojie Li, Chris A. Kaiser
Mol Biol Cell. 2002 May; 13(5): 1484–1500. doi: 10.1091/mbc.01-10-0495
PMCID:
PMC111121
ArticlePubReaderPDF–574KCite
3.
A natural history study of autosomal dominant GUCY2D-associated cone–rod dystrophy
Amanda J. Scopelliti, Robyn V. Jamieson, Elizabeth H. Barnes, Benjamin Nash, Sulekha Rajagopalan, Elisa L. Cornish, John R. Grigg
Doc Ophthalmol. 2023; 147(3): 189–201. Published online 2023 Sep 29. doi: 10.1007/s10633-023-09954-7
PMCID:
PMC10638150
ArticlePubReaderPDF–1.7MCite
4.
An early onset cone dystrophy due to CEP290 mutation: a case report
Anastasia Binder, Susanne Kohl, Ute Grasshoff, Karin Schäferhoff, Katarina Stingl
Doc Ophthalmol. 2023; 147(3): 203–209. Published online 2023 Aug 29. doi: 10.1007/s10633-023-09940-z
PMCID:
PMC10638109
ArticlePubReaderPDF–1.0MCite
5.
RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History
Michalis Georgiou, Anthony G. Robson, Katarina Jovanovic, Thales A. C. de Guimarães, Naser Ali, Nikolas Pontikos, Sami H. Uwaydat, Omar A. Mahroo, Michael E. Cheetham, Andrew R. Webster, Alison J. Hardcastle, Michel Michaelides
Ophthalmology. 2023 Apr; 130(4): 413–422. doi: 10.1016/j.ophtha.2022.11.015
PMCID:
PMC10567581
ArticlePubReaderPDF–1.9MCite
6.
Clinical Observation and Genotype-Phenotype Analysis of ABCA4-Related Hereditary Retinal Degeneration before Gene Therapy
Xuan Xiao, Lin Ye, Changzheng Chen, Hongmei Zheng, Jiajia Yuan
Curr Gene Ther. 2022 Jun 1; 22(4): 342–351. Published online 2022 Jun 1. doi: 10.2174/1566523222666220216101539
PMCID:
PMC10495610
ArticlePubReaderPDF–6.7MCite
7.
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
ArticlePubReaderPDF–6.9MCite
8.
A novel KCNV2 mutation in a patient taking hydroxychloroquine associated with cone dystrophy with supernormal rod response
Pei-Kang Liu, Joseph Ryu, Lung-Kun Yeh, Kuan-Jen Chen, Stephen H. Tsang, Laura Liu, Nan-Kai Wang
Ophthalmic Genet. Author manuscript; available in PMC 2023 Jun 1.
Published in final edited form as: Ophthalmic Genet. 2021 Aug; 42(4): 458–463. Published online 2021 May 7. doi: 10.1080/13816810.2021.1920039
PMCID:
PMC10234695
ArticlePubReaderPDF–1.3MCite
9.
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
ArticlePubReaderPDF–3.7MCite
10.
Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet–Biedl Syndrome
Hamed Nawaz, Mujahid, Sher Alam Khan, Farhana Bibi, Ahmed Waqas, Abdul Bari, Fardous, Niamatullah Khan, Nazif Muhammad, Amjad Khan, Sohail Aziz Paracha, Qamre Alam, Mohammad Azhar Kamal, Misbahuddin M. Rafeeq, Noor Muhammad, Fayaz Ul Haq, Shazia Khan, Arif Mahmood, Saadullah Khan, Muhammad Umair
Genes (Basel) 2023 May; 14(5): 1113. Published online 2023 May 19. doi: 10.3390/genes14051113
PMCID:
PMC10217928
ArticlePubReaderPDF–2.2MCite
11.
Unravelling the genetic basis of retinal dystrophies in Pakistani consanguineous families
Muhammad Marwan, Muhammad Dawood, Mukhtar Ullah, Irfan Ullah Shah, Niamat Khan, Muhammad Taimur Hassan, Muhammad Karam, Lettie E. Rawlins, Emma L Baple, Andrew H. Crosby, Shamim Saleha
BMC Ophthalmol. 2023; 23: 205. Published online 2023 May 10. doi: 10.1186/s12886-023-02948-8
PMCID:
PMC10170854
ArticlePubReaderPDF–1.1MCite
12.
Unique Haplotypes in OPN1LW as a Common Cause of High Myopia With or Without Protanopia: A Potential Window Into Myopic Mechanism
Yingwei Wang, Wenmin Sun, Xueshan Xiao, Yi Jiang, Jiamin Ouyang, Junwen Wang, Zhen Yi, Shiqiang Li, Xiaoyun Jia, Panfeng Wang, J. Fielding Hejtmancik, Qingjiong Zhang
Invest Ophthalmol Vis Sci. 2023 Apr; 64(4): 29. Published online 2023 Apr 25. doi: 10.1167/iovs.64.4.29
PMCID:
PMC10148663
ArticlePubReaderPDF–6.5MCite
13.
Ophthalmic Manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) Syndrome, an Inherited NF κB–Mediated Autoinflammatory Disease with Retinal Dystrophy
Laryssa A. Huryn, Christina Torres Kozycki, Jasmine Y. Serpen, Wadih M. Zein, Ehsan Ullah, Alessandro Iannaccone, Lloyd B. Williams, Lucia Sobrin, Brian P. Brooks, H. Nida Sen, Robert B. Hufnagel, Daniel L. Kastner, Shilpa Kodati
Ophthalmology. Author manuscript; available in PMC 2023 Apr 1.
Published in final edited form as: Ophthalmology. 2023 Apr; 130(4): 423–432. Published online 2022 Nov 2. doi: 10.1016/j.ophtha.2022.10.026
PMCID:
PMC10038920
ArticlePubReaderPDF–1.2MCite
14.
CDHR1-Related Cone–Rod Dystrophy: Clinical Characteristics, Imaging Findings, and Genetic Test Results—A Case Report
Małgorzata Sobolewska, Marta Świerczyńska, Mariola Dorecka, Dorota Wyględowska-Promieńska, Maciej R. Krawczyński, Ewa Mrukwa-Kominek
Medicina (Kaunas) 2023 Feb; 59(2): 399. Published online 2023 Feb 17. doi: 10.3390/medicina59020399
PMCID:
PMC9966332
ArticlePubReaderPDF–4.3MCite
15.
High-Efficiency CRISPR/Cas9-Mediated Correction of a Homozygous Mutation in Achromatopsia-Patient-Derived iPSCs
Laura Siles, Paula Gaudó, Esther Pomares
Int J Mol Sci. 2023 Feb; 24(4): 3655. Published online 2023 Feb 11. doi: 10.3390/ijms24043655
PMCID:
PMC9964936
ArticlePubReaderPDF–4.3MCite
16.
Genetic Characteristics and Long-Term Follow-Up of Slovenian Patients with RPGR Retinal Dystrophy
Vlasta Hadalin, Maša Buscarino, Jana Sajovic, Andrej Meglič, Martina Jarc-Vidmar, Marko Hawlina, Marija Volk, Ana Fakin
Int J Mol Sci. 2023 Feb; 24(4): 3840. Published online 2023 Feb 14. doi: 10.3390/ijms24043840
PMCID:
PMC9958649
ArticlePubReaderPDF–8.7MCite
17.
Quantitative and Qualitative Characterization of Retinal Dystrophies in Canine Models of Inherited Retinal Diseases Using Spectral Domain Optical Coherence Tomography (SD-OCT)
Shin Ae Park, Jamie Rhodes, Simone Iwabe, Gui-Shuang Ying, Wei Pan, Jiayan Huang, András M. Komáromy
Exp Eye Res. Author manuscript; available in PMC 2023 Jul 1.
Published in final edited form as: Exp Eye Res. 2022 Jul; 220: 109106. Published online 2022 May 16. doi: 10.1016/j.exer.2022.109106
PMCID:
PMC9789526
ArticlePubReaderPDF–2.0MCite
18.
PCYT1A Missense Variant in Vizslas with Disproportionate Dwarfism
Odette Ludwig-Peisker, Emily Ansel, Daniela Schweizer, Vidhya Jagannathan, Robert Loechel, Tosso Leeb
Genes (Basel) 2022 Dec; 13(12): 2354. Published online 2022 Dec 13. doi: 10.3390/genes13122354
PMCID:
PMC9777673
ArticlePubReaderPDF–2.3MCite
19.
Depleted Calcium Stores and Increased Calcium Entry in Rod Photoreceptors of the Cacna2d4 Mouse Model of Cone-Rod Dystrophy RCD4
Vittorio Vellani, Giovanna Mauro, Gian Carlo Demontis
Int J Mol Sci. 2022 Nov; 23(21): 13080. Published online 2022 Oct 28. doi: 10.3390/ijms232113080
PMCID:
PMC9656469
ArticlePubReaderPDF–4.9MCite
20.
Identification of a novel CACNA1F mutation in a Chinese family with CORDX3
Meng Du, Yang Li, Panpan Zheng, Liang Zhong, Weili Zhao, Yuxin Zhang, Haiyan Gu, Xue Li, Zanchao Liu
Mol Genet Genomic Med. 2022 Nov; 10(11): e2060. Published online 2022 Sep 27. doi: 10.1002/mgg3.2060
PMCID:
PMC9651601
ArticlePubReaderPDF–2.5MCite

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