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Peripherin mutations cause a distinct form of recessive Leber congenital amaurosis and dominant phenotypes in asymptomatic parents heterozygous for the mutation
Author / Creator:Khan, Arif O ; Al Rashaed, Saba ; Neuhaus, Christine ; Bergmann, Carsten ; Bolz, Hanno J
Publisher:England: BMJ Publishing Group LTD
Journal title:British journal of ophthalmology, 2016-02, Vol.100 (2), p.209-215
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Maternal plasma folate impacts differential DNA methylation in an epigenome-wide meta-analysis of newborns
Author / Creator:Joubert, Bonnie R. ; den Dekker, Herman T. ; Felix, Janine F. ; Bohlin, Jon ; Ligthart, Symen ; Beckett, Emma ; Tiemeier, Henning ; van Meurs, Joyce B. ; Uitterlinden, Andre G. ; Hofman, Albert ; Håberg, Siri E. ; Reese, Sarah E. ; Peters, Marjolein J. ; Kulle Andreassen, Bettina ; Steegers, Eric A. P. ; Nilsen, Roy M. ; Vollset, Stein E. ; Midttun, Øivind ; Ueland, Per M. ; Franco, Oscar H. ; Dehghan, Abbas ; de Jongste, Johan C. ; Wu, Michael C. ; Wang, Tianyuan ; Peddada, Shyamal D. ; Jaddoe, Vincent W. V. ; Nystad, Wenche ; Duijts, Liesbeth ; London, Stephanie J.
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2016-02, Vol.7 (1), p.10577-10577, Article 10577
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Downregulation of rhodopsin is an effective therapeutic strategy in ameliorating peripherin-2-associated inherited retinal disorders
Author / Creator:Rutan Woods, Christian T. ; Makia, Mustafa S. ; Lewis, Tylor R. ; Crane, Ryan ; Zeibak, Stephanie ; Yu, Paul ; Kakakhel, Mashal ; Castillo, Carson M. ; Arshavsky, Vadim Y. ; Naash, Muna I. ; Al-Ubaidi, Muayyad R.
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2024-06, Vol.15 (1), p.4756-16, Article 4756
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The Type III Intermediate Filament Protein Peripherin Regulates Lysosomal Degradation Activity and Autophagy
Author / Creator:Romano, Roberta ; Cordella, Paola ; Bucci, Cecilia
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2025-01, Vol.26 (2), p.549
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Developmental differentiation of mouse inner ear neuron subpopulations resolved with a peripherin-promoter reporter within the Grm8 locus
Author / Creator:Pearson, Lily J. ; Pinyon, Jeremy L. ; Cederholm, Jennie M. E. ; von Jonquieres, Georg ; Bartlett, Florence ; Vázquez-Campos, Xabier ; Delerue, Fabien ; Ittner, Lars M. ; Housley, Gary D.
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2025-03, Vol.15 (1), p.10281-20, Article 10281
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Role of the Intermediate Filament Protein Peripherin in Health and Disease
Author / Creator:Romano, Roberta ; Del Fiore, Victoria Stefania ; Bucci, Cecilia
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2022-12, Vol.23 (23), p.15416
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Multistep peripherin-2/rds self-assembly drives membrane curvature for outer segment disk architecture and photoreceptor viability
Author / Creator:Milstein, Michelle L. ; Cavanaugh, Breyanna L. ; Roussey, Nicole M. ; Volland, Stefanie ; Williams, David S. ; Goldberg, Andrew F. X.
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2020-02, Vol.117 (8), p.4400-4410
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ROM1 is redundant to PRPH2 as a molecular building block of photoreceptor disc rims
Author / Creator:Lewis, Tylor R ; Makia, Mustafa S ; Castillo, Carson M ; Hao, Ying ; Al-Ubaidi, Muayyad R ; Skiba, Nikolai P ; Conley, Shannon M ; Arshavsky, Vadim Y ; Naash, Muna I
Publisher:England: eLife Sciences Publications Ltd
Journal title:eLife, 2023-11, Vol.12
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Type II spiral ganglion afferent neurons drive medial olivocochlear reflex suppression of the cochlear amplifier
Author / Creator:Froud, Kristina E. ; Wong, Ann Chi Yan ; Cederholm, Jennie M. E. ; Klugmann, Matthias ; Sandow, Shaun L. ; Julien, Jean-Pierre ; Ryan, Allen F. ; Housley, Gary D.
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2015-05, Vol.6 (1), p.7115-7115, Article 7115
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A case–control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants
Author / Creator:Wolock, Charles J. ; Stong, Nicholas ; Ma, Chu Jian ; Nagasaki, Takayuki ; Lee, Winston ; Tsang, Stephen H. ; Kamalakaran, Sitharthan ; Goldstein, David B. ; Allikmets, Rando
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2019-10, Vol.21 (10), p.2336-2344
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A novel splicing mutation in the PRPH2 gene causes autosomal dominant retinitis pigmentosa in a Chinese pedigree
Author / Creator:Cheng, Jingliang ; Fu, Jiewen ; Zhou, Qi ; Xiang, Xiaohong ; Wei, Chunli ; Yang, Lisha ; Fu, Shangyi ; Khan, Md. Asaduzzaman ; Lv, Hongbin ; Fu, Junjiang
Publisher:England: John Wiley & Sons, Inc
Journal title:Journal of cellular and molecular medicine, 2019-05, Vol.23 (5), p.3776-3780
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Dynamic Expression of Sox2, Gata3, and Prox1 during Primary Auditory Neuron Development in the Mammalian Cochlea
Author / Creator:Nishimura, Koji ; Noda, Teppei ; Dabdoub, Alain
Publisher:United States: Public Library of Science
Journal title:PloS one, 2017-01, Vol.12 (1), p.e0170568-e0170568
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Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases
Author / Creator:Maggi, Jordi ; Koller, Samuel ; Bähr, Luzy ; Feil, Silke ; Kivrak Pfiffner, Fatma ; Hanson, James V M ; Maspoli, Alessandro ; Gerth-Kahlert, Christina ; Berger, Wolfgang
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2021-02, Vol.22 (4), p.1508
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Retbindin: A riboflavin Binding Protein, Is Critical for Photoreceptor Homeostasis and Survival in Models of Retinal Degeneration
Author / Creator:Genc, Ayse M ; Makia, Mustafa S ; Sinha, Tirthankar ; Conley, Shannon M ; Al-Ubaidi, Muayyad R ; Naash, Muna I
Publisher:Switzerland: MDPI
Journal title:International journal of molecular sciences, 2020-10, Vol.21 (21), p.8083
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Genetic and Phenotypic Landscape of PRPH2 -Associated Retinal Dystrophy in Japan
Author / Creator:Oishi, Akio ; Fujinami, Kaoru ; Mawatari, Go ; Naoi, Nobuhisa ; Ikeda, Yasuhiro ; Ueno, Shinji ; Kuniyoshi, Kazuki ; Hayashi, Takaaki ; Kondo, Hiroyuki ; Mizota, Atsushi ; Shinoda, Kei ; Kusuhara, Sentaro ; Nakamura, Makoto ; Iwata, Takeshi ; Tsujikawa, Akitaka ; Tsunoda, Kazushige
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2021-11, Vol.12 (11), p.1817
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PRPH2 -Related Retinal Diseases: Broadening the Clinical Spectrum and Describing a New Mutation
Author / Creator:Coco-Martin, Rosa M ; Sanchez-Tocino, Hortensia T ; Desco, Carmen ; Usategui-Martín, Ricardo ; Tellería, Juan J
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2020-07, Vol.11 (7), p.773
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Temporal progression of PARP activity in the Prph2 mutant rd2 mouse: Neuroprotective effects of the PARP inhibitor PJ34
Author / Creator:Sahaboglu, Ayse ; Sharif, Alaa ; Feng, Lili ; Secer, Enver ; Zrenner, Eberhart ; Paquet-Durand, François
Publisher:United States: Public Library of Science
Journal title:PloS one, 2017-07, Vol.12 (7), p.e0181374-e0181374
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A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy
Author / Creator:Bjornsdottir, Gyda ; Ivarsdottir, Erna V. ; Bjarnadottir, Kristbjorg ; Benonisdottir, Stefania ; Gylfadottir, Sandra Sif ; Arnadottir, Gudny A. ; Benediktsson, Rafn ; Halldorsson, Gisli Hreinn ; Helgadottir, Anna ; Jonasdottir, Adalbjorg ; Jonasdottir, Aslaug ; Jonsdottir, Ingileif ; Kristinsdottir, Anna Margret ; Magnusson, Olafur Th ; Masson, Gisli ; Melsted, Pall ; Rafnar, Thorunn ; Sigurdsson, Asgeir ; Sigurdsson, Gunnar ; Skuladottir, Astros ; Steinthorsdottir, Valgerdur ; Styrkarsdottir, Unnur ; Thorgeirsson, Gudmundur ; Thorleifsson, Gudmar ; Vikingsson, Arnor ; Gudbjartsson, Daniel F. ; Holm, Hilma ; Stefansson, Hreinn ; Thorsteinsdottir, Unnur ; Norddahl, Gudmundur L. ; Sulem, Patrick ; Thorgeirsson, Thorgeir E. ; Stefansson, Kari
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2019-04, Vol.10 (1), p.1777-1777, Article 1777
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In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone Photoreceptors
Author / Creator:Becirovic, Elvir ; Böhm, Sybille ; Nguyen, Ong Nam Phuong ; Riedmayr, Lisa Maria ; Koch, Mirja Annika ; Schulze, Elisabeth ; Kohl, Susanne ; Borsch, Oliver ; Santos-Ferreira, Tiago ; Ader, Marius ; Michalakis, Stylianos ; Biel, Martin
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2016-01, Vol.12 (1), p.e1005811-e1005811
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Mutation analysis of BEST1 in Japanese patients with Best's vitelliform macular dystrophy
Author / Creator:Katagiri, Satoshi ; Hayashi, Takaaki ; Ohkuma, Yasuhiro ; Sekiryu, Tetsuju ; Takeuchi, Tomokazu ; Gekka, Tamaki ; Kondo, Mineo ; Iwata, Takeshi ; Tsuneoka, Hiroshi
Publisher:England: BMJ Publishing Group LTD
Journal title:British journal of ophthalmology, 2015-11, Vol.99 (11), p.1577-1582
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Showing 1 to 20 of 27 results

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Peripherin mutations cause a distinct form of recessive Leber congenital amaurosis and dominant phenotypes in asymptomatic parents heterozygous for the mutation

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Maternal plasma folate impacts differential DNA methylation in an epigenome-wide meta-analysis of newborns

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Downregulation of rhodopsin is an effective therapeutic strategy in ameliorating peripherin-2-associated inherited retinal disorders

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The Type III Intermediate Filament Protein Peripherin Regulates Lysosomal Degradation Activity and Autophagy

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Developmental differentiation of mouse inner ear neuron subpopulations resolved with a peripherin-promoter reporter within the Grm8 locus

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Role of the Intermediate Filament Protein Peripherin in Health and Disease

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Multistep peripherin-2/rds self-assembly drives membrane curvature for outer segment disk architecture and photoreceptor viability

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ROM1 is redundant to PRPH2 as a molecular building block of photoreceptor disc rims

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Type II spiral ganglion afferent neurons drive medial olivocochlear reflex suppression of the cochlear amplifier

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A case–control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants

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A novel splicing mutation in the PRPH2 gene causes autosomal dominant retinitis pigmentosa in a Chinese pedigree

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Dynamic Expression of Sox2, Gata3, and Prox1 during Primary Auditory Neuron Development in the Mammalian Cochlea

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Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases

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Retbindin: A riboflavin Binding Protein, Is Critical for Photoreceptor Homeostasis and Survival in Models of Retinal Degeneration

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Genetic and Phenotypic Landscape of PRPH2 -Associated Retinal Dystrophy in Japan

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PRPH2 -Related Retinal Diseases: Broadening the Clinical Spectrum and Describing a New Mutation

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Temporal progression of PARP activity in the Prph2 mutant rd2 mouse: Neuroprotective effects of the PARP inhibitor PJ34

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A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy

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In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone Photoreceptors

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Mutation analysis of BEST1 in Japanese patients with Best's vitelliform macular dystrophy

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