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Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.
Amyere M, Revencu N, Helaers R, Pairet E, Baselga E, Cordisco M, Chung W, Dubois J, Lacour JP, Martorell L, Mazereeuw-Hautier J, Pyeritz RE, Amor DJ, Bisdorff A, Blei F, Bombei H, Dompmartin A, Brooks D, Dupont J, González-Enseñat MA, Frieden I, Gérard M, Kvarnung M, Hanson-Kahn AK, Hudgins L, Léauté-Labrèze C, McCuaig C, Metry D, Parent P, Paul C, Petit F, Phan A, Quere I, Salhi A, Turner A, Vabres P, Vicente A, Wargon O, Watanabe S, Weibel L, Wilson A, Willing M, Mulliken JB, Boon LM, Vikkula M. Amyere M, et al. Among authors: watanabe s. Circulation. 2017 Sep 12;136(11):1037-1048. doi: 10.1161/CIRCULATIONAHA.116.026886. Epub 2017 Jul 7. Circulation. 2017. PMID: 28687708 Free article.
Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK.
Reichenberger E, Tiziani V, Watanabe S, Park L, Ueki Y, Santanna C, Baur ST, Shiang R, Grange DK, Beighton P, Gardner J, Hamersma H, Sellars S, Ramesar R, Lidral AC, Sommer A, Raposo do Amaral CM, Gorlin RJ, Mulliken JB, Olsen BR. Reichenberger E, et al. Among authors: watanabe s. Am J Hum Genet. 2001 Jun;68(6):1321-6. doi: 10.1086/320612. Epub 2001 Apr 16. Am J Hum Genet. 2001. PMID: 11326338 Free PMC article.
Tip Detection-Antegrade Dissection and Re-Entry With New Puncture Wire in CTO Intervention: Revolution Through 3D-Wiring.
Tanaka K, Okamura A, Yoshikawa R, Tsuchikane E, Ishikawa M, Suzuki S, Nagai H, Sumiyoshi A, Kawahira M, Yamasaki T, Matsuda H, Iwamoto M, Watanabe S, Yamasaki K, Tanaka N, Koyama Y, Iwanaga Y, Watanabe H. Tanaka K, et al. Among authors: watanabe s. JACC Asia. 2024 Feb 27;4(5):359-372. doi: 10.1016/j.jacasi.2023.11.017. eCollection 2024 May. JACC Asia. 2024. PMID: 38765666 Free PMC article.
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