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Page 1
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.
Quinodoz M, Rodenburg K, Cvackova Z, Kaminska K, de Bruijn SE, Iglesias-Romero AB, Boonen EGM, Ullah M, Zomer N, Folcher M, Bijon J, Holtes LK, Tsang SH, Corradi Z, Freund KB, Shliaga S, Panneman DM, Hitti-Malin RJ, Ali M, AlTalbishi A, Andréasson S, Ansari G, Arno G, Astuti GDN, Ayuso C, Ayyagari R, Banfi S, Banin E, Barboni MTS, Bauwens M, Ben-Yosef T, Birch DG, Biswas P, Blanco-Kelly F, Bocquet B, Boon CJF, Branham K, Britten-Jones AC, Bujakowska KM, Cadena EL, Calzetti G, Cancellieri F, Cattaneo L, Issa PC, Chadderton N, Coutinho-Santos L, Daiger SP, De Baere E, de la Cerda B, De Roach JN, De Zaeytijd J, Derks R, Dhaenens CM, Dudakova L, Duncan JL, Farrar GJ, Feltgen N, Fernández-Caballero L, Sallum JMF, Gana S, Garanto A, Gardner JC, Gilissen C, Goto K, Gonzàlez-Duarte R, Griffiths-Jones S, Haack TB, Haer-Wigman L, Hardcastle AJ, Hayashi T, Héon E, Hoischen A, Holtan JP, Hoyng CB, Ibanez MBB, Inglehearn CF, Iwata T, Jones K, Kalatzis V, Kamakari S, Karali M, Kellner U, Knézy K, Klaver CCW, Koenekoop RK, Kohl S, Kominami T, Kühlewein L, Lamey TM, Leroy BP, Martín-Gutiérrez MP, Martins N, Mauring L, Leibu R, Lin S, Liskova P, Lopez I, López-Rodríguez VRJ, Mahroo OA, Manes G, Mc… See abstract for full author list ➔ Quinodoz M, et al. Among authors: yoshitake k. medRxiv [Preprint]. 2025 Jan 6:2025.01.06.24317169. doi: 10.1101/2025.01.06.24317169. medRxiv. 2025. PMID: 39830270 Free PMC article. Preprint.
A homozygous structural variant of RPGRIP1 is frequently associated with achromatopsia in Japanese patients with IRD.
Suga A, Mizobuchi K, Inooka T, Yoshitake K, Minematsu N, Tsunoda K, Kuniyoshi K, Kawai Y, Omae Y, Tokunaga K; NCBN Controls WGS Consortium; Hayashi T, Ueno S, Iwata T. Suga A, et al. Among authors: yoshitake k. Genet Med Open. 2024 Mar 26;2:101843. doi: 10.1016/j.gimo.2024.101843. eCollection 2024. Genet Med Open. 2024. PMID: 39669618 Free PMC article.
Epidermal distribution of tetrodotoxin-rich cells in newly hatched larvae of Takifugu spp.
Inahashi K, Yonezawa R, Hayashi K, Watanabe S, Yoshitake K, Smith AR, Kaneko Y, Watanabe I, Suo R, Kinoshita S, Rafiuddin MA, Seki Y, Nagami A, Matsubara H, Suzuki N, Takatani T, Arakawa O, Suzuki M, Asakawa S, Itoi S. Inahashi K, et al. Among authors: yoshitake k. Mar Biotechnol (NY). 2024 Dec;26(6):1367-1374. doi: 10.1007/s10126-024-10377-x. Epub 2024 Oct 2. Mar Biotechnol (NY). 2024. PMID: 39356382 Free PMC article.
GENETIC ETIOLOGY AND CLINICAL FEATURES OF ACHROMATOPSIA IN JAPAN.
Inooka T, Hayashi T, Tsunoda K, Kuniyoshi K, Kondo H, Mizobuchi K, Suga A, Iwata T, Yoshitake K, Kondo M, Goto K, Ota J, Kominami T, Nishiguchi KM, Ueno S. Inooka T, et al. Among authors: yoshitake k. Retina. 2024 Oct 1;44(10):1836-1844. doi: 10.1097/IAE.0000000000004170. Retina. 2024. PMID: 39287548
Japanese Planocerid Flatworms: Difference in Composition of Tetrodotoxin and Its Analogs and the Effects of Ingestion by Toxin-Bearing Fishes in the Ryukyu Islands, Japan.
Ueda H, Ito M, Yonezawa R, Hayashi K, Tomonou T, Kashitani M, Oyama H, Shirai K, Suo R, Yoshitake K, Kinoshita S, Asakawa S, Itoi S. Ueda H, et al. Among authors: yoshitake k. Mar Biotechnol (NY). 2024 Jun;26(3):500-510. doi: 10.1007/s10126-024-10312-0. Epub 2024 Apr 17. Mar Biotechnol (NY). 2024. PMID: 38630353 Free PMC article.
270 results