Hasil Pencarian - Dror Sharon

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  1. 1
    Translational Read-Through Drugs (TRIDs) Are Able to Restore Protein Expression and Ciliogenesis in Fibroblasts of Patients with Retinitis Pigmentosa Caused by a Premature Termination Codon in <i>FAM161A</i>

    Translational Read-Through Drugs (TRIDs) Are Able to Restore Protein Expression and Ciliogenesis in Fibroblasts of Patients with Retinitis Pigmentosa Caused by a Premature Terminat... oleh Avigail Beryozkin, Ananya Samanta, Prakadeeswari Gopalakrishnan, Samer Khateb, Eyal Banin, Dror Sharon, Kerstin Nagel-Wolfrum

    Diterbitkan 2022-03-01
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  2. 2
    A new mouse model for retinal degeneration due to Fam161a deficiency

    A new mouse model for retinal degeneration due to Fam161a deficiency oleh Avigail Beryozkin, Chen Matsevich, Alexey Obolensky, Corinne Kostic, Yvan Arsenijevic, Uwe Wolfrum, Eyal Banin, Dror Sharon

    Diterbitkan 2021-01-01
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  3. 3
    Exome sequencing identifies a founder frameshift mutation in an alternative exon of USH1C as the cause of autosomal recessive retinitis pigmentosa with late-onset hearing loss.

    Exome sequencing identifies a founder frameshift mutation in an alternative exon of USH1C as the cause of autosomal recessive retinitis pigmentosa with late-onset hearing loss. oleh Samer Khateb, Lina Zelinger, Tamar Ben-Yosef, Saul Merin, Ornit Crystal-Shalit, Menachem Gross, Eyal Banin, Dror Sharon

    Diterbitkan 2012-01-01
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  4. 4
    Photoreceptor Guanylate Cyclase (GUCY2D) Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca2+-Dependent Cyclic GMP Synthesis

    Photoreceptor Guanylate Cyclase (GUCY2D) Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca2+-Dependent Cyclic GMP Synthesis oleh Hanna Wimberg, Dorit Lev, Dorit Lev, Keren Yosovich, Keren Yosovich, Prasanthi Namburi, Eyal Banin, Dror Sharon, Karl-Wilhelm Koch

    Diterbitkan 2018-09-01
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  5. 5
    A pipeline for identifying guide RNA sequences that promote RNA editing of nonsense mutations that cause inherited retinal diseases

    A pipeline for identifying guide RNA sequences that promote RNA editing of nonsense mutations that cause inherited retinal diseases oleh Nina Schneider, Ricky Steinberg, Amit Ben-David, Johanna Valensi, Galit David-Kadoch, Zohar Rosenwasser, Eyal Banin, Erez Y. Levanon, Dror Sharon, Shay Ben-Aroya

    Diterbitkan 2024-03-01
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  6. 6
    Retinal Structure and Function in a Knock-in Mouse Model for the FAM161A-p.Arg523∗ Human Nonsense Pathogenic Variant

    Retinal Structure and Function in a Knock-in Mouse Model for the FAM161A-p.Arg523∗ Human Nonsense Pathogenic Variant oleh Chen Matsevich, MSc, Prakadeeswari Gopalakrishnan, PhD, Alexey Obolensky, MD, PhD, Eyal Banin, MD, PhD, Dror Sharon, PhD, Avigail Beryozkin, PhD

    Diterbitkan 2023-03-01
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  7. 7
    Knockdown of Dehydrodolichyl Diphosphate Synthase in the Drosophila Retina Leads to a Unique Pattern of Retinal Degeneration

    Knockdown of Dehydrodolichyl Diphosphate Synthase in the Drosophila Retina Leads to a Unique Pattern of Retinal Degeneration oleh Tal Brandwine, Reut Ifrah, Tzofia Bialistoky, Rachel Zaguri, Elisheva Rhodes-Mordov, Liliana Mizrahi-Meissonnier, Dror Sharon, Vladimir L. Katanaev, Vladimir L. Katanaev, Offer Gerlitz, Baruch Minke

    Diterbitkan 2021-07-01
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  8. 8
    Fine-tuning FAM161A gene augmentation therapy to restore retinal function

    Fine-tuning FAM161A gene augmentation therapy to restore retinal function oleh Yvan Arsenijevic, Ning Chang, Olivier Mercey, Younes El Fersioui, Hanna Koskiniemi-Kuendig, Caroline Joubert, Alexis-Pierre Bemelmans, Carlo Rivolta, Eyal Banin, Dror Sharon, Paul Guichard, Virginie Hamel, Corinne Kostic

    Diterbitkan 2024-03-01
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  9. 9
    Enhancer of Zeste Homolog 2 (EZH2) Contributes to Rod Photoreceptor Death Process in Several Forms of Retinal Degeneration and Its Activity Can Serve as a Biomarker for Therapy Efficacy

    Enhancer of Zeste Homolog 2 (EZH2) Contributes to Rod Photoreceptor Death Process in Several Forms of Retinal Degeneration and Its Activity Can Serve as a Biomarker for Therapy Eff... oleh Martial Mbefo, Adeline Berger, Karine Schouwey, Xavier Gérard, Corinne Kostic, Avigail Beryozkin, Dror Sharon, Hélène Dolfuss, Francis Munier, Hoai Viet Tran, Maarten van Lohuizen, William A. Beltran, Yvan Arsenijevic

    Diterbitkan 2021-08-01
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  10. 10
    A novel intronic mutation of PDE6B is a major cause of autosomal recessive retinitis pigmentosa among Caucasus Jews

    A novel intronic mutation of PDE6B is a major cause of autosomal recessive retinitis pigmentosa among Caucasus Jews oleh Yasmin Tatour, Jonathan Tamaiev, Shamaly Shamaly, Roberto Colombo, Ephrat Bril, Tom Rabinowitz, Alona Yaakobi, Eedy Mezer, Rina Leibu, Beatrice Tiosano, Noam Shomron, Itay Chowers, Eyal Banin, Dror Sharon, Tamar Ben-Yosef

    Diterbitkan 2019-02-01
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  11. 11
    Retinal Degeneration Associated With RPGRIP1: A Review of Natural History, Mutation Spectrum, and Genotype–Phenotype Correlation in 228 Patients

    Retinal Degeneration Associated With RPGRIP1: A Review of Natural History, Mutation Spectrum, and Genotype–Phenotype Correlation in 228 Patients oleh Avigail Beryozkin, Hamzah Aweidah, Roque Daniel Carrero Valenzuela, Myriam Berman, Oscar Iguzquiza, Frans P. M. Cremers, Muhammad Imran Khan, Anand Swaroop, Radgonde Amer, Samer Khateb, Tamar Ben-Yosef, Dror Sharon, Eyal Banin

    Diterbitkan 2021-10-01
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  12. 12
    Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability

    Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability oleh Zelia Corradi, Mubeen Khan, Rebekkah Hitti-Malin, Ketan Mishra, Laura Whelan, Stéphanie S. Cornelis, Carel B. Hoyng, Kati Kämpjärvi, Caroline C.W. Klaver, Petra Liskova, Heidi Stöhr, Bernhard H.F. Weber, Sandro Banfi, G. Jane Farrar, Dror Sharon, Jana Zernant, Rando Allikmets, Claire-Marie Dhaenens, Frans P.M. Cremers

    Diterbitkan 2023-10-01
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  13. 13
    Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD

    Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD oleh Riccardo Sangermano, Iris Deitch, Virginie G. Peter, Rola Ba-Abbad, Emily M. Place, Erin Zampaglione, Naomi E. Wagner, Anne B. Fulton, Luisa Coutinho-Santos, Boris Rosin, Vincent Dunet, Ala’a AlTalbishi, Eyal Banin, Ana Berta Sousa, Mariana Neves, Anna Larson, Mathieu Quinodoz, Michel Michaelides, Tamar Ben-Yosef, Eric A. Pierce, Carlo Rivolta, Andrew R. Webster, Gavin Arno, Dror Sharon, Rachel M. Huckfeldt, Kinga M. Bujakowska

    Diterbitkan 2021-06-01
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  14. 14
    Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction

    Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction oleh 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

    Diterbitkan 2023-04-01
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  15. 15
    Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes

    Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes oleh Rebekkah J. Hitti-Malin, Daan M. Panneman, Zelia Corradi, Erica G. M. Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard H. F. Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Sandro Banfi, Tamar Ben-Yosef, Damjan Glavač, G. Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P. Szaflik, Anna Matynia, Michael B. Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfride De Baere, Carel B. Hoyng, Catherina H. Z. Li, Caroline C. W. Klaver, Chris F. Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L. Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L. Vincent, Lisa Roberts, Raj Ramesar, Giovanna Sartor, Elena Luppi, Susan M. Downes, L. Ingeborgh van den Born, Terri L. McLaren, John N. De Roach, Tina M. Lamey, Jennifer A. Thompson, Fred K. Chen, Anna M. Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J. Bolz, Hülya Kayserili, Susanne Roosing, Frans P. M. Cremers

    Diterbitkan 2024-03-01
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