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Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling.
Callier P, Calvel P, Matevossian A, Makrythanasis P, Bernard P, Kurosaka H, Vannier A, Thauvin-Robinet C, Borel C, Mazaud-Guittot S, Rolland A, Desdoits-Lethimonier C, Guipponi M, Zimmermann C, Stévant I, Kuhne F, Conne B, Santoni F, Lambert S, Huet F, Mugneret F, Jaruzelska J, Faivre L, Wilhelm D, Jégou B, Trainor PA, Resh MD, Antonarakis SE, Nef S. Callier P, et al. Among authors: kurosaka h. PLoS Genet. 2014 May 1;10(5):e1004340. doi: 10.1371/journal.pgen.1004340. eCollection 2014 May. PLoS Genet. 2014. PMID: 24784881 Free PMC article.
Characteristic craniofacial defects associated with a novel USP9X truncation mutation.
Nagata N, Kurosaka H, Higashi K, Yamaguchi M, Yamamoto S, Inubushi T, Nagata M, Ishihara Y, Yonei A, Miyashita Y, Asano Y, Sakai N, Sakata Y, Kawabata S, Yamashiro T. Nagata N, et al. Among authors: kurosaka h. Hum Genome Var. 2024 May 16;11(1):21. doi: 10.1038/s41439-024-00277-w. Hum Genome Var. 2024. PMID: 38755172 Free PMC article.
The roles of JAK2/STAT3 signaling in fusion of the secondary palate.
Yoshida N, Inubushi T, Hirose T, Aoyama G, Kurosaka H, Yamashiro T. Yoshida N, et al. Among authors: kurosaka h. Dis Model Mech. 2023 Oct 1;16(10):dmm050085. doi: 10.1242/dmm.050085. Epub 2023 Oct 17. Dis Model Mech. 2023. PMID: 37846594 Free PMC article.
Tmem2 Deficiency Leads to Enamel Hypoplasia and Soft Enamel in Mouse.
Nag P, Inubushi T, Sasaki JI, Murotani T, Kusano S, Nakanishi Y, Shiraishi Y, Kurosaka H, Imazato S, Yamaguchi Y, Yamashiro T. Nag P, et al. Among authors: kurosaka h. J Dent Res. 2023 Sep;102(10):1162-1171. doi: 10.1177/00220345231182355. Epub 2023 Jul 14. J Dent Res. 2023. PMID: 37449307
On-demand chlorine dioxide solution enhances odontoblast differentiation through desulfation of cell surface heparan sulfate proteoglycan and subsequent activation of canonical Wnt signaling.
Inubushi T, Priyanka N, Watanabe M, Takahashi Y, Kusano S, Kurosaka H, Papagerakis S, Papagerakis P, Hayashi M, Yamashiro T. Inubushi T, et al. Among authors: kurosaka h. Front Cell Dev Biol. 2023 Oct 26;11:1271455. doi: 10.3389/fcell.2023.1271455. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 37954207 Free PMC article.
87 results