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Kaoru Fujinami on Muck Rack

Kaoru Fujinami

As seen in: Emerging Infectious Diseases Journal, Nature, MDPI, British Journal of Ophthalmology, OCT News
経済産業省「新事業創出支援事業」のホットなトピックや旬の話題を配信するニュースアカウントを開設しました！現在推進中の支援事業の動きや各事業者からの告知などをどんどん配信してまいります！
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Articles

Variants in the ciliopathy gene SCLT1 are associated with non-syndromic and syndromic retinal degeneration of variable severity

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By Riccardo Sangermano, Kaoru Fujinami, Suk Ho Byeon, Julien Navarro, Samer Khateb, Eyal Banin, Stephanie P. DiTroia, Dror Sharon, Christina Zeitz, Isabelle Audo, Kinga M. Bujakowska, Jinu Han, Johanna Valensi, Christel Condroyer
| Nature Verified
Abstract Inherited retinal degenerations (IRDs) are a group of clinically and genetically heterogeneous blinding disorders. In this study, we describe five families clearly or which were presumed to be diagnosed with autosomal recessive non-syndromic IRD and one with mild syndromic IRD, in which affected probands carried rare bi-allelic variants in SCLT1, a gene previously associated with multiple autosomal recessive ciliopathies.
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Yu Fujinami-Yokokawa

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By Kaoru Fujinami, Yu Fujinami-Yokokawa
| OCT News
April 14, 2019 | Ophthalmology | University College London Purpose . To illustrate a data-driven deep learning approach to predicting the gene responsible for the inherited retinal disorder (IRD) in macular dystrophy caused by ABCA4 and RP1L1 gene aberration in comparison with retinitis pigmentosa caused by EYS gene aberration and normal subjects. Methods .
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Stargardt macular dystrophy and therapeutic approaches

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By Kaoru Fujinami, Nadia K. Waheed, Paul Yang, Yannik Laich
| British Journal of Ophthalmology
Statistics from Altmetric.com Request Permissions If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.
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