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Page 1
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
Martin CA, Sarlós K, Logan CV, Thakur RS, Parry DA, Bizard AH, Leitch A, Cleal L, Ali NS, Al-Owain MA, Allen W, Altmüller J, Aza-Carmona M, Barakat BAY, Barraza-García J, Begtrup A, Bogliolo M, Cho MT, Cruz-Rojo J, Mundi Dhahrabi HA, Elcioglu NH, GOSgene, Gorman GS, Jobling R, Kesterton I, Kishita Y, Kohda M, Le Quesne Stabej P, Malallah AJ, Nürnberg P, Ohtake A, Okazaki Y, Pujol R, Ramirez MJ, Revah-Politi A, Shimura M, Stevens P, Taylor RW, Turner L, Williams H, Wilson C, Yigit G, Zahavich L, Alkuraya FS, Surralles J, Iglesias A, Murayama K, Wollnik B, Dattani M, Heath KE, Hickson ID, Jackson AP. Martin CA, et al. Among authors: ohtake a. Am J Hum Genet. 2024 May 2;111(5):996. doi: 10.1016/j.ajhg.2024.04.008. Am J Hum Genet. 2024. PMID: 38701747 Free PMC article. No abstract available.
Novel ITPA variants identified by whole genome sequencing and RNA sequencing.
Omichi N, Kishita Y, Nakama M, Sasai H, Terazawa A, Kobayashi E, Fushimi T, Sugiyama Y, Ichimoto K, Nitta KR, Yatsuka Y, Ohtake A, Murayama K, Okazaki Y. Omichi N, et al. Among authors: ohtake a. J Hum Genet. 2023 Sep;68(9):649-652. doi: 10.1038/s10038-023-01156-y. Epub 2023 May 29. J Hum Genet. 2023. PMID: 37246162
Association between maternally inherited deafness, epilepsy, and intellectual disability and the m.12207G > A MT-TS2 pathogenic variant in a Japanese family.
Suzuki-Ajihara S, Saito-Tsuruoka M, Harashima H, Arai K, Koide H, Yatsuka Y, Imai-Okazaki A, Okazaki Y, Murayama K, Numakura C, Akioka Y, Ohtake A. Suzuki-Ajihara S, et al. Among authors: ohtake a. Mol Genet Metab Rep. 2023 Mar 17;35:100966. doi: 10.1016/j.ymgmr.2023.100966. eCollection 2023 Jun. Mol Genet Metab Rep. 2023. PMID: 36967720 Free PMC article.
Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy.
Ozaki K, Yatsuka Y, Oyazato Y, Nishiyama A, Nitta KR, Kishita Y, Fushimi T, Shimura M, Noma S, Sugiyama Y, Tagami M, Fukunaga M, Kinoshita H, Hirata T, Suda W, Murakawa Y, Carninci P, Ohtake A, Murayama K, Okazaki Y. Ozaki K, et al. Among authors: ohtake a. NPJ Genom Med. 2024 Oct 25;9(1):48. doi: 10.1038/s41525-024-00429-5. NPJ Genom Med. 2024. PMID: 39455596 Free PMC article.
Genetic, metabolic and clinical delineation of an MRPS23-associated mitochondrial disorder.
Ittiwut C, Ittiwut R, Kuptanon C, Matsuhashi T, Shimura M, Sugiyama Y, Onuki T, Ohtake A, Murayama K, Vatanavicharn N, Dejputtawat W, Tantisirivit N, Kor-Anantakul P, Kamolvisit W, Suphapeetiporn K, Shotelersuk V. Ittiwut C, et al. Among authors: ohtake a. Sci Rep. 2023 Dec 12;13(1):22005. doi: 10.1038/s41598-023-49161-7. Sci Rep. 2023. PMID: 38086984 Free PMC article.
275 results