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MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration.
Hamanaka K, Takata A, Uchiyama Y, Miyatake S, Miyake N, Mitsuhashi S, Iwama K, Fujita A, Imagawa E, Alkanaq AN, Koshimizu E, Azuma Y, Nakashima M, Mizuguchi T, Saitsu H, Wada Y, Minami S, Katoh-Fukui Y, Masunaga Y, Fukami M, Hasegawa T, Ogata T, Matsumoto N. Hamanaka K, et al. Hum Mol Genet. 2019 Jul 15;28(14):2319-2329. doi: 10.1093/hmg/ddz066. Hum Mol Genet. 2019. PMID: 30985895
Testicular dysgenesis/regression without campomelic dysplasia in patients carrying missense mutations and upstream deletion of SOX9.
Katoh-Fukui Y, Igarashi M, Nagasaki K, Horikawa R, Nagai T, Tsuchiya T, Suzuki E, Miyado M, Hata K, Nakabayashi K, Hayashi K, Matsubara Y, Baba T, Morohashi K, Igarashi A, Ogata T, Takada S, Fukami M. Katoh-Fukui Y, et al. Mol Genet Genomic Med. 2015 Jul 14;3(6):550-7. doi: 10.1002/mgg3.165. eCollection 2015 Nov. Mol Genet Genomic Med. 2015. PMID: 26740947 Free PMC article.
A novel C-terminal truncating NR5A1 mutation in dizygotic twins.
Hattori A, Zukeran H, Igarashi M, Toguchi S, Toubaru Y, Inoue T, Katoh-Fukui Y, Fukami M. Hattori A, et al. Hum Genome Var. 2017 Mar 16;4:17008. doi: 10.1038/hgv.2017.8. eCollection 2017. Hum Genome Var. 2017. PMID: 28326187 Free PMC article.
Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature.
Hattori A, Katoh-Fukui Y, Nakamura A, Matsubara K, Kamimaki T, Tanaka H, Dateki S, Adachi M, Muroya K, Yoshida S, Ida S, Mitani M, Nagasaki K, Ogata T, Suzuki E, Hata K, Nakabayashi K, Matsubara Y, Narumi S, Tanaka T, Fukami M. Hattori A, et al. Endocr J. 2017 Oct 28;64(10):947-954. doi: 10.1507/endocrj.EJ17-0150. Epub 2017 Aug 3. Endocr J. 2017. PMID: 28768959 Free article.
The p.R92W variant of NR5A1/Nr5a1 induces testicular development of 46,XX gonads in humans, but not in mice: phenotypic comparison of human patients and mutation-induced mice.
Miyado M, Inui M, Igarashi M, Katoh-Fukui Y, Takasawa K, Hakoda A, Kanno J, Kashimada K, Miyado K, Tamano M, Ogata T, Takada S, Fukami M. Miyado M, et al. Biol Sex Differ. 2016 Nov 8;7:56. doi: 10.1186/s13293-016-0114-6. eCollection 2016. Biol Sex Differ. 2016. PMID: 27833742 Free PMC article.
47 results