Akira Kinoshita

Haploinsufficiency of NSD1 causes Sotos syndrome

Naohiro Kurotaki, Kiyoshi Imaizumi, Naoki Harada et al. · Nature Genetics · 2002 · 655 citations

Clinical Disorders, Sotos Syndrome, Neurological Disorder +5

Heterozygous TGFBR2 mutations in Marfan syndrome

Takeshi Mizuguchi, Gwenaëlle Collod‐Béroud, Takushi Akiyama et al. · Nature Genetics · 2004 · 612 citations · Full text

Marfan Syndrome, Mendelian Disorder, Genetic Disorder +4

Structural Fragility and Inflammatory Response of Ruptured Cerebral Aneurysms

Kazuo Kataoka, Mamoru Taneda, Toshiharu Asai et al. · Stroke · 1999 · 436 citations

Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 (Irf6)

Christopher R. Ingraham, Akira Kinoshita, Shinji Kondo et al. · Nature Genetics · 2006 · 358 citations

Knockout Mouse, Skin Development, Developmental Biology +13

Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome

Kazuhiko Arima, Akira Kinoshita, Hiroyuki Mishima et al. · Proceedings of the National Academy of Sciences · 2011 · 317 citations · Full text

Autoinflammatory Disorder, Immunology, Proteasome +29