Showing 1,661 - 1,674 results of 1,674 for search '"retinitis pigmentosa"', query time: 0.15s Refine Results
  1. 1661

    Cholesterol synthesis inhibition promotes axonal regeneration in the injured central nervous system by Alireza P. Shabanzadeh, Jason Charish, Nardos G. Tassew, Nahal Farhani, Jinzhou Feng, Xinjue Qin, Shuzo Sugita, Andrea J. Mothe, Thomas Wälchli, Paulo D. Koeberle, Philippe P. Monnier

    Published 2021-03-01
    “…Cholesterol inhibition also enhanced photoreceptor survival in a model of Retinitis Pigmentosa. Our data reveal that Lovastatin leads to several opposing effects on regenerating axons: cholesterol synthesis inhibition promotes regeneration whereas altered prenylation impairs regeneration. …”
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  2. 1662
  3. 1663

    Generation of three induced pluripotent stem cell lines from a patient with Usher syndrome caused by biallelic c.949C > A and c.1256G > T mutations in the USH2A gene by Khine Zaw, Elaine Y.M. Wong, Xiao Zhang, Dan Zhang, Shang-Chih Chen, Jennifer A. Thompson, Tina Lamey, Terri McLaren, John N. De Roach, Steve D. Wilton, Sue Fletcher, Chalermchai Mitrpant, Marcus D. Atlas, Fred K. Chen, Samuel McLenachan

    Published 2021-01-01
    “…Mutations in the USH2A gene are the most common cause of Usher syndrome and autosomal recessive non-syndromic retinitis pigmentosa. Here, we describe the generation of three induced pluripotent stem cell lines from dermal fibroblasts derived from a patient carrying biallelic c.949C > A and c.1256G > T variants in the USH2A gene, using episomal reprogramming plasmids expressing OCT4, SOX2, KLF4, MYCL, LIN28, mir302/367 and shRNA targeting TP53. …”
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  4. 1664

    Noninvasive optical inhibition with a red-shifted microbial rhodopsin by Miri, Mitra L., Busskamp, Volker, Young, Andrew, Ogawa, Masaaki, Ramanlal, Shreshtha B., Forest, Craig R., Chow, Brian Y., Han, Xue, Lin, Yingxi, Roska, Botond, Cardin, Jessica A., Chuong, Amy S., Acker, Leah Christine, Henninger, Michael Alan, Kodandaramaiah, Suhasa Bangalo, Bandler, Rachel C., Allen, Brian Douglas, Boyden, Edward Stuart, Sorensen, Andreas Toft, Klapoetke, Nathan Cao, Matthews, Gillian A., Tye, Kay

    Published 2015
    “…Jaws exhibits robust inhibition of sensory-evoked neural activity in the cortex and results in strong light responses when used in retinas of retinitis pigmentosa model mice. We also demonstrate that Jaws can noninvasively mediate transcranial optical inhibition of neurons deep in the brains of awake mice. …”
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  5. 1665

    Roles for IFT172 and Primary Cilia in Cell Migration, Cell Division, and Neocortex Development by Michal Pruski, Michal Pruski, Michal Pruski, Michal Pruski, Michal Pruski, Ling Hu, Ling Hu, Cuiping Yang, Yubing Wang, Jin-Bao Zhang, Lei Zhang, Lei Zhang, Ying Huang, Ying Huang, Ying Huang, Ann M. Rajnicek, David St Clair, Colin D. McCaig, Bing Lang, Bing Lang, Bing Lang, Yu-Qiang Ding, Yu-Qiang Ding

    Published 2019-11-01
    “…IFT172 is a member of the IFT complex B, and IFT172 mutation is associated with pathologies including short rib thoracic dysplasia, retinitis pigmentosa and Bardet-Biedl syndrome, but how it underpins these conditions is not clear. …”
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  6. 1666

    Retinal degeneration in rpgra mutant zebrafish by Xiliang Liu, Xiliang Liu, Shanshan Han, Shanshan Han, Fei Liu, Fei Liu, Shanshan Yu, Shanshan Yu, Yayun Qin, Yayun Qin, Jingzhen Li, Danna Jia, Pan Gao, Xiang Chen, Zhaohui Tang, Mugen Liu, Yuwen Huang

    Published 2023-06-01
    “…Introduction: Pathogenic mutations in RPGRORF15, one of two major human RPGR isoforms, were responsible for most X-linked retinitis pigmentosa cases. Previous studies have shown that RPGR plays a critical role in ciliary protein transport. …”
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  7. 1667

    A Systematic Review on Transplantation Studies of the Retinal Pigment Epithelium in Animal Models by Céline Koster, Kimberley E. Wever, Ellie L. Wagstaff, Koen T. van den Hurk, Carlijn R. Hooijmans, Arthur A. Bergen

    Published 2020-04-01
    “…There are currently almost no effective therapies available for RPE disorders such as Stargardt disease, specific types of retinitis pigmentosa, and age-related macular degeneration. …”
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  8. 1668

    Compound heterozygous WDR19 variants associated with nephronophthisis, Caroli disease, refractory epilepsy and congenital bilateral central blindness: Case report by Xianglian Tang, Sheng Yi, Zailong Qin, Shang Yi, Junjie Chen, Qi Yang, Shanshan Li, Jingsi Luo

    Published 2024-01-01
    “…The WDR19 gene has been reported to be involved in nephronophthisis-related ciliopathies such as isolated nephronophthisis 13 (NPHP13), Sensenbrenner syndrome, Jeune syndrome, Senior-Loken syndrome, Caroli disease, retinitis pigmentosa and Asthenoteratospermia. In the present study, we provided the detailed clinical characteristics and genetic analysis of a patient with four variants in WDR19 and TG, reviewed a comprehensive mutation analysis in the WDR19-related ciliopathies, discussed the relationship between genotype and phenotype, and compared the allele frequencies (AFs) of WDR19 variants depending on the ethnic background. …”
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  9. 1669
  10. 1670

    Megaloblastic Anemia in Bardet-Biedl Syndrome: A Rare Case Report by Subtain Hassan, Qaisar Ali Khan, Priyadharshini Saravanan, Sumaira Iram, Samia Rohail, Naod F Belay, Muhammad Afzal, Faiza Amatul Hadi, Harshawardhan Pande

    Published 2023-08-01
    “…She had bilateral retinal pigmentosa in her eyes and her laboratory evaluation and bone marrow biopsy revealed megaloblastic anemia secondary to vitamin B12 deficiency. …”
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  11. 1671

    Vertebrate Animal Models of RP59: Current Status and Future Prospects by Steven J. Fliesler, Sriganesh Ramachandra Rao, Mai N. Nguyen, Mahmoud Tawfik KhalafAllah, Steven J. Pittler

    Published 2022-11-01
    “…Retinitis pigmentosa-59 (RP59) is a rare, recessive form of RP, caused by mutations in the gene encoding DHDDS (dehydrodolichyl diphosphate synthase). …”
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  12. 1672

    Kearns–Sayre syndrome: a case series of 35 adults and children by Khambatta S, Nguyen DL, Beckman TJ, Wittich CM

    Published 2014-07-01
    “…Keywords: heart block, mitochondrial diseases, ophthalmoplegia, retinitis pigmentosa…”
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  13. 1673

    Ameliorative potential of stem cells from human exfoliated deciduous teeth (SHED) in preclinical studies: A meta-analysis by Pooja Yadav, Ravina Vats, Afsareen Bano, Ritu Namdev, Rashmi Bhardwaj

    Published 2023-12-01
    “…The intervention of SHED and its derivatives in several diseases depicted statistically significant therapeutic effects in periodontitis, pulpitis, spinal cord injury, parkinson's disease, alzheimer's disease, focal cerebral ischemia, peripheral nerve injury, and retinal pigmentosa. SHED also improved levels of alanine aminotransferase, aspartate aminotransferase, and bilirubin in liver fibrosis . …”
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  14. 1674