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ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19.
Takahashi Y, Fukuda Y, Yoshimura J, Toyoda A, Kurppa K, Moritoyo H, Belzil VV, Dion PA, Higasa K, Doi K, Ishiura H, Mitsui J, Date H, Ahsan B, Matsukawa T, Ichikawa Y, Moritoyo T, Ikoma M, Hashimoto T, Kimura F, Murayama S, Onodera O, Nishizawa M, Yoshida M, Atsuta N, Sobue G; JaCALS; Fifita JA, Williams KL, Blair IP, Nicholson GA, Gonzalez-Perez P, Brown RH Jr, Nomoto M, Elenius K, Rouleau GA, Fujiyama A, Morishita S, Goto J, Tsuji S. Takahashi Y, et al. Among authors: higasa k. Am J Hum Genet. 2013 Nov 7;93(5):900-5. doi: 10.1016/j.ajhg.2013.09.008. Epub 2013 Oct 10. Am J Hum Genet. 2013. PMID: 24119685 Free PMC article.
CSF1R mutations identified in three families with autosomal dominantly inherited leukoencephalopathy.
Mitsui J, Matsukawa T, Ishiura H, Higasa K, Yoshimura J, Saito TL, Ahsan B, Takahashi Y, Goto J, Iwata A, Niimi Y, Riku Y, Goto Y, Mano K, Yoshida M, Morishita S, Tsuji S. Mitsui J, et al. Among authors: higasa k. Am J Med Genet B Neuropsychiatr Genet. 2012 Dec;159B(8):951-7. doi: 10.1002/ajmg.b.32100. Epub 2012 Oct 4. Am J Med Genet B Neuropsychiatr Genet. 2012. PMID: 23038421
Trans-ethnic meta-analysis of white blood cell phenotypes.
Keller MF, Reiner AP, Okada Y, van Rooij FJ, Johnson AD, Chen MH, Smith AV, Morris AP, Tanaka T, Ferrucci L, Zonderman AB, Lettre G, Harris T, Garcia M, Bandinelli S, Qayyum R, Yanek LR, Becker DM, Becker LC, Kooperberg C, Keating B, Reis J, Tang H, Boerwinkle E, Kamatani Y, Matsuda K, Kamatani N, Nakamura Y, Kubo M, Liu S, Dehghan A, Felix JF, Hofman A, Uitterlinden AG, van Duijn CM, Franco OH, Longo DL, Singleton AB, Psaty BM, Evans MK, Cupples LA, Rotter JI, O'Donnell CJ, Takahashi A, Wilson JG, Ganesh SK, Nalls MA; CHARGE Hematology; COGENT; BioBank Japan Project (RIKEN) Working Groups. Keller MF, et al. Hum Mol Genet. 2014 Dec 20;23(25):6944-60. doi: 10.1093/hmg/ddu401. Epub 2014 Aug 5. Hum Mol Genet. 2014. PMID: 25096241 Free PMC article.
Human genetic variation database, a reference database of genetic variations in the Japanese population.
Higasa K, Miyake N, Yoshimura J, Okamura K, Niihori T, Saitsu H, Doi K, Shimizu M, Nakabayashi K, Aoki Y, Tsurusaki Y, Morishita S, Kawaguchi T, Migita O, Nakayama K, Nakashima M, Mitsui J, Narahara M, Hayashi K, Funayama R, Yamaguchi D, Ishiura H, Ko WY, Hata K, Nagashima T, Yamada R, Matsubara Y, Umezawa A, Tsuji S, Matsumoto N, Matsuda F. Higasa K, et al. J Hum Genet. 2016 Jun;61(6):547-53. doi: 10.1038/jhg.2016.12. Epub 2016 Feb 25. J Hum Genet. 2016. PMID: 26911352 Free PMC article.
Contribution of a Non-classical HLA Gene, HLA-DOA, to the Risk of Rheumatoid Arthritis.
Okada Y, Suzuki A, Ikari K, Terao C, Kochi Y, Ohmura K, Higasa K, Akiyama M, Ashikawa K, Kanai M, Hirata J, Suita N, Teo YY, Xu H, Bae SC, Takahashi A, Momozawa Y, Matsuda K, Momohara S, Taniguchi A, Yamada R, Mimori T, Kubo M, Brown MA, Raychaudhuri S, Matsuda F, Yamanaka H, Kamatani Y, Yamamoto K. Okada Y, et al. Among authors: higasa k. Am J Hum Genet. 2016 Aug 4;99(2):366-74. doi: 10.1016/j.ajhg.2016.06.019. Am J Hum Genet. 2016. PMID: 27486778 Free PMC article.
Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy.
Ishiura H, Doi K, Mitsui J, Yoshimura J, Matsukawa MK, Fujiyama A, Toyoshima Y, Kakita A, Takahashi H, Suzuki Y, Sugano S, Qu W, Ichikawa K, Yurino H, Higasa K, Shibata S, Mitsue A, Tanaka M, Ichikawa Y, Takahashi Y, Date H, Matsukawa T, Kanda J, Nakamoto FK, Higashihara M, Abe K, Koike R, Sasagawa M, Kuroha Y, Hasegawa N, Kanesawa N, Kondo T, Hitomi T, Tada M, Takano H, Saito Y, Sanpei K, Onodera O, Nishizawa M, Nakamura M, Yasuda T, Sakiyama Y, Otsuka M, Ueki A, Kaida KI, Shimizu J, Hanajima R, Hayashi T, Terao Y, Inomata-Terada S, Hamada M, Shirota Y, Kubota A, Ugawa Y, Koh K, Takiyama Y, Ohsawa-Yoshida N, Ishiura S, Yamasaki R, Tamaoka A, Akiyama H, Otsuki T, Sano A, Ikeda A, Goto J, Morishita S, Tsuji S. Ishiura H, et al. Among authors: higasa k. Nat Genet. 2018 Apr;50(4):581-590. doi: 10.1038/s41588-018-0067-2. Epub 2018 Mar 5. Nat Genet. 2018. PMID: 29507423
Genetic basis for plasma amino acid concentrations based on absolute quantification: a genome-wide association study in the Japanese population.
Imaizumi A, Adachi Y, Kawaguchi T, Higasa K, Tabara Y, Sonomura K, Sato TA, Takahashi M, Mizukoshi T, Yoshida HO, Kageyama N, Okamoto C, Takasu M, Mori M, Noguchi Y, Shimba N, Miyano H, Yamada R, Matsuda F. Imaizumi A, et al. Among authors: higasa k. Eur J Hum Genet. 2019 Apr;27(4):621-630. doi: 10.1038/s41431-018-0296-y. Epub 2019 Jan 18. Eur J Hum Genet. 2019. PMID: 30659259 Free PMC article.
84 results