Article
Monoallelic mutations in MMD2 cause autosomal dominant aggressive periodontitis.
The Journal of experimental medicine - 1 Sept 2025
Iwata Tomoyuki, Mizoguchi Yoko, Yoshimoto Tetsuya, Tsumura Miyuki, Sakura Fumiaki, Johnson Jeffrey R, Matsuda Shinji, Ouhara Kazuhisa, Nagatani Yukiko, Asano Takaki, Ohnishi Hidenori, Kato Zenichiro, Mihara Keichiro, Kanegane Hirokazu, Ueda Tomoya, Sasaki Shinya, Taniguchi Yuri, Ninomiya Yurika, Ohno Yoshinori, Suzuki-Takedachi Kyoko, Sotomaru Yusuke, Sakuma Tetsushi, Yamamoto Takashi, Matsuda Yukiko, Kume Kodai, Sanui Terukazu, Nishimura Fusanori, Kajiya Mikihito, Ueki Yasuyoshi, Kurihara Hidemi, Morino Hiroyuki, Okada Satoshi, Kawakami Hideshi, Mizuno Noriyoshi
Abstract excerpt
Aggressive periodontitis causes rapid destruction of periodontal tissue. It occurs at a young age with familial clustering. We report on the first time on molecular and cellular basis of a Mendelian form of autosomal dominant aggressive periodontitis. Monoallelic mutations in the monocyte to macrophage differentiation-associated 2 (MMD2) gene, encoding MMD2, in two Japanese families with autosomal dominant...
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