Somatic GJA4 gain-of-function mutation in orbital cavernous venous malformations

Orbital cavernous venous malformation (OCVM) is a sporadic vascular anomaly of uncertain etiology characterized by abnormally dilated vascular channels. Here, we identify a somatic missense mutation, c.121G > T (p.Gly41Cys) in GJA4, which encodes a transmembrane protein that is a component of gap...

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Detalles Bibliográficos
Autores principales: Hongo, Hiroki, Miyawaki, Satoru, Teranishi, Yu, Mitsui, Jun, Katoh, Hiroto, Komura, Daisuke, Tsubota, Kinya, Matsukawa, Takashi, Watanabe, Masakatsu, Kurita, Masakazu, Yoshimura, Jun, Dofuku, Shogo, Ohara, Kenta, Ishigami, Daiichiro, Okano, Atsushi, Kato, Motoi, Hakuno, Fumihiko, Takahashi, Ayaka, Kunita, Akiko, Ishiura, Hiroyuki, Shin, Masahiro, Nakatomi, Hirofumi, Nagao, Toshitaka, Goto, Hiroshi, Takahashi, Shin-Ichiro, Ushiku, Tetsuo, Ishikawa, Shumpei, Okazaki, Mutsumi, Morishita, Shinichi, Tsuji, Shoji, Saito, Nobuhito
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2022
Materias:
Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9908695/
https://www.ncbi.nlm.nih.gov/pubmed/35902510
http://dx.doi.org/10.1007/s10456-022-09846-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9908695/
https://www.ncbi.nlm.nih.gov/pubmed/35902510
http://dx.doi.org/10.1007/s10456-022-09846-5

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