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The Structural Abnormalities Are Deeply Involved in the Cause of RPGRIP1 -Related Retinal Dystrophy in Japanese Patients.

Autor: Torii, Kaoruko¹ (AUTHOR), Nishina, Sachiko² (AUTHOR), Morikawa, Hazuki² (AUTHOR), Mizobuchi, Kei³ (AUTHOR), Takayama, Masakazu¹ (AUTHOR), Tachibana, Nobutaka¹ (AUTHOR), Kurata, Kentaro¹ (AUTHOR), Hikoya, Akiko¹ (AUTHOR), Sato, Miho¹ (AUTHOR), Nakano, Tadashi³ (AUTHOR), Fukami, Maki⁴ (AUTHOR), Azuma, Noriyuki^2,5 (AUTHOR), Hayashi, Takaaki³ (AUTHOR), Saitsu, Hirotomo⁶ (AUTHOR), Hotta, Yoshihiro¹ (AUTHOR) hotta@hama-med.ac.jp

Publikováno v: International Journal of Molecular Sciences. Sep2023, Vol. 24 Issue 18, p13678. 15p.

Delayed-onset cord1 progressive retinal atrophy in English Springer Spaniels genetically affected with the RPGRIP1 variant.

Autor: Kwok JC; Department of Clinical Sciences and Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Sato Y; Department of Clinical Sciences and Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Niggel JK; Department of Clinical Sciences and Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Ozdogan E; Department of Clinical Sciences and Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Murgiano L; Department of Clinical Sciences and Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Miyadera K; Department of Clinical Sciences and Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

Publikováno v: Veterinary ophthalmology [Vet Ophthalmol] 2024 Oct 20. Date of Electronic Publication: 2024 Oct 20.

A homozygous structural variant of RPGRIP1 is frequently associated with achromatopsia in Japanese patients with IRD

Autor: Ishibashi-Ueda, Hatsue, Tomita, Tsutomu, Noguchi, Michio, Takahashi, Ayako, Goto, Yu-ichi, Yoshida, Sumiko, Hattori, Kotaro, Matsumura, Ryo, Iida, Aritoshi, Maruoka, Yutaka, Gatanaga, Hiroyuki, Sugiyama, Masaya, Suzuki, Satoshi, Miyo, Kengo, Matsubara, Yoichi, Umezawa, Akihiro, Hata, Kenichiro, Kaname, Tadashi, Ozaki, Kouichi, Tokuda, Haruhiko, Watanabe, Hiroshi, Niida, Shumpei, Noiri, Eisei, Kitajima, Koji, Omae, Yosuke, Miyahara, Reiko, Shimanuki, Hideyuki, Kawai, Yosuke, Tokunaga, Katsushi, Suga, Akiko, Mizobuchi, Kei, Inooka, Taiga, Yoshitake, Kazutoshi, Minematsu, Naoko, Tsunoda, Kazushige, Kuniyoshi, Kazuki, Hayashi, Takaaki, Ueno, Shinji, Iwata, Takeshi

Publikováno v: In Genetics in Medicine Open 2024 2

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