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Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures.
Knierim E, Hirata H, Wolf NI, Morales-Gonzalez S, Schottmann G, Tanaka Y, Rudnik-Schöneborn S, Orgeur M, Zerres K, Vogt S, van Riesen A, Gill E, Seifert F, Zwirner A, Kirschner J, Goebel HH, Hübner C, Stricker S, Meierhofer D, Stenzel W, Schuelke M. Knierim E, et al. Among authors: hirata h. Am J Hum Genet. 2016 Mar 3;98(3):473-489. doi: 10.1016/j.ajhg.2016.01.006. Epub 2016 Feb 25. Am J Hum Genet. 2016. PMID: 26924529 Free PMC article.
ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.
Hirata H, Nanda I, van Riesen A, McMichael G, Hu H, Hambrock M, Papon MA, Fischer U, Marouillat S, Ding C, Alirol S, Bienek M, Preisler-Adams S, Grimme A, Seelow D, Webster R, Haan E, MacLennan A, Stenzel W, Yap TY, Gardner A, Nguyen LS, Shaw M, Lebrun N, Haas SA, Kress W, Haaf T, Schellenberger E, Chelly J, Viot G, Shaffer LG, Rosenfeld JA, Kramer N, Falk R, El-Khechen D, Escobar LF, Hennekam R, Wieacker P, Hübner C, Ropers HH, Gecz J, Schuelke M, Laumonnier F, Kalscheuer VM. Hirata H, et al. Am J Hum Genet. 2013 May 2;92(5):681-95. doi: 10.1016/j.ajhg.2013.03.021. Epub 2013 Apr 25. Am J Hum Genet. 2013. PMID: 23623388 Free PMC article.
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.
Frints SGM, Hennig F, Colombo R, Jacquemont S, Terhal P, Zimmerman HH, Hunt D, Mendelsohn BA, Kordaß U, Webster R, Sinnema M, Abdul-Rahman O, Suckow V, Fernández-Jaén A, van Roozendaal K, Stevens SJC, Macville MVE, Al-Nasiry S, van Gassen K, Utzig N, Koudijs SM, McGregor L, Maas SM, Baralle D, Dixit A, Wieacker P, Lee M, Lee AS, Engle EC, Houge G, Gradek GA, Douglas AGL, Longman C, Joss S, Velasco D, Hennekam RC, Hirata H, Kalscheuer VM. Frints SGM, et al. Among authors: hirata h. Hum Mutat. 2019 Dec;40(12):2270-2285. doi: 10.1002/humu.23841. Epub 2019 Aug 21. Hum Mutat. 2019. PMID: 31206972 Free PMC article.
Recurrent NFIA K125E substitution represents a loss-of-function allele: Sensitive in vitro and in vivo assays for nontruncating alleles.
Uehara T, Sanuki R, Ogura Y, Yokoyama A, Yoshida T, Futagawa H, Yoshihashi H, Yamada M, Suzuki H, Takenouchi T, Matsubara K, Hirata H, Kosaki K, Takano-Shimizu T. Uehara T, et al. Among authors: hirata h. Am J Med Genet A. 2021 Jul;185(7):2084-2093. doi: 10.1002/ajmg.a.62226. Epub 2021 May 11. Am J Med Genet A. 2021. PMID: 33973697 Free PMC article.
Characterization of zebrafish GABAA receptor subunits.
Sadamitsu K, Shigemitsu L, Suzuki M, Ito D, Kashima M, Hirata H. Sadamitsu K, et al. Among authors: hirata h. Sci Rep. 2021 Mar 18;11(1):6242. doi: 10.1038/s41598-021-84646-3. Sci Rep. 2021. PMID: 33737538 Free PMC article.
1,480 results