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A response to: loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, "dermatan sulfate-deficient Adducted Thumb-Clubfoot Syndrome". Which name is appropriate, "Adducted Thumb-Clubfoot Syndrome" or "Ehlers-Danlos syndrome"?
Kosho T, Miyake N, Mizumoto S, Hatamochi A, Fukushima Y, Yamada S, Sugahara K, Matsumoto N. Kosho T, et al. Among authors: fukushima y. Hum Mutat. 2011 Dec;32(12):1507-9. doi: 10.1002/humu.21586. Epub 2011 Sep 30. Hum Mutat. 2011. PMID: 21964831 No abstract available.
Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.
Miyake N, Kosho T, Mizumoto S, Furuichi T, Hatamochi A, Nagashima Y, Arai E, Takahashi K, Kawamura R, Wakui K, Takahashi J, Kato H, Yasui H, Ishida T, Ohashi H, Nishimura G, Shiina M, Saitsu H, Tsurusaki Y, Doi H, Fukushima Y, Ikegawa S, Yamada S, Sugahara K, Matsumoto N. Miyake N, et al. Among authors: fukushima y. Hum Mutat. 2010 Aug;31(8):966-74. doi: 10.1002/humu.21300. Hum Mutat. 2010. PMID: 20533528
Delineation of dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome: observation of two additional patients and comprehensive review of 20 reported patients.
Shimizu K, Okamoto N, Miyake N, Taira K, Sato Y, Matsuda K, Akimaru N, Ohashi H, Wakui K, Fukushima Y, Matsumoto N, Kosho T. Shimizu K, et al. Among authors: fukushima y. Am J Med Genet A. 2011 Aug;155A(8):1949-58. doi: 10.1002/ajmg.a.34115. Epub 2011 Jul 8. Am J Med Genet A. 2011. PMID: 21744491 Review.
Rivaroxaban Monotherapy vs Combination Therapy With Antiplatelets on Total Thrombotic and Bleeding Events in Atrial Fibrillation With Stable Coronary Artery Disease: A Post Hoc Secondary Analysis of the AFIRE Trial.
Naito R, Miyauchi K, Yasuda S, Kaikita K, Akao M, Ako J, Matoba T, Nakamura M, Hagiwara N, Kimura K, Hirayama A, Matsui K, Ogawa H; AFIRE Investigators. Naito R, et al. JAMA Cardiol. 2022 Jun 15. doi: 10.1001/jamacardio.2022.1561. Online ahead of print. JAMA Cardiol. 2022. PMID: 35704345
Brain Dp140 alters glutamatergic transmission and social behaviour in the mdx52 mouse model of Duchenne muscular dystrophy.
Hashimoto Y, Kuniishi H, Sakai K, Fukushima Y, Du X, Yamashiro K, Hori K, Imamura M, Hoshino M, Yamada M, Araki T, Sakagami H, Takeda S, Itaka K, Ichinohe N, Muntoni F, Sekiguchi M, Aoki Y. Hashimoto Y, et al. Among authors: fukushima y. Prog Neurobiol. 2022 May 30;216:102288. doi: 10.1016/j.pneurobio.2022.102288. Online ahead of print. Prog Neurobiol. 2022. PMID: 35654209 Free article.
Worldwide Disparities in Recovery of Cardiac Testing 1 Year Into COVID-19.
Einstein AJ, Hirschfeld C, Williams MC, Vitola JV, Better N, Villines TC, Cerci R, Shaw LJ, Choi AD, Dorbala S, Karthikeyan G, Lu B, Sinitsyn V, Ansheles AA, Kudo T, Bucciarelli-Ducci C, Nørgaard BL, Maurovich-Horvat P, Campisi R, Milan E, Louw L, Allam AH, Bhatia M, Sewanan L, Malkovskiy E, Cohen Y, Randazzo M, Narula J, Morozova O, Pascual TNB, Pynda Y, Dondi M, Paez D; INCAPS COVID 2 Investigators Group. Einstein AJ, et al. J Am Coll Cardiol. 2022 May 24;79(20):2001-2017. doi: 10.1016/j.jacc.2022.03.348. J Am Coll Cardiol. 2022. PMID: 35589162 Free PMC article.
1,539 results