Akira Kinoshita

Haploinsufficiency of NSD1 causes Sotos syndrome

Naohiro Kurotaki, Kiyoshi Imaizumi, Naoki Harada et al. · Nature Genetics · 2002 · 656 citations

Life Sciences, Genetics, Molecular Genetics +3

Heterozygous TGFBR2 mutations in Marfan syndrome

Takeshi Mizuguchi, Gwenaëlle Collod‐Béroud, Takushi Akiyama et al. · Nature Genetics · 2004 · 616 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Structural Fragility and Inflammatory Response of Ruptured Cerebral Aneurysms

Kazuo Kataoka, Mamoru Taneda, Toshiharu Asai et al. · Stroke · 1999 · 437 citations

Medicine, Neurosurgery, Surgery +16

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 · 363 citations

Life Sciences, Genetics, Molecular Biology +17

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 · 320 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +16