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Page 1
SLC4A2 Deficiency Causes a New Type of Osteopetrosis.
Xue JY, Grigelioniene G, Wang Z, Nishimura G, Iida A, Matsumoto N, Tham E, Miyake N, Ikegawa S, Guo L. Xue JY, et al. Among authors: wang z. J Bone Miner Res. 2022 Feb;37(2):226-235. doi: 10.1002/jbmr.4462. Epub 2021 Nov 11. J Bone Miner Res. 2022. PMID: 34668226 Free article.
Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations.
Wang Z, Iida A, Miyake N, Nishiguchi KM, Fujita K, Nakazawa T, Alswaid A, Albalwi MA, Kim OH, Cho TJ, Lim GY, Isidor B, David A, Rustad CF, Merckoll E, Westvik J, Stattin EL, Grigelioniene G, Kou I, Nakajima M, Ohashi H, Smithson S, Matsumoto N, Nishimura G, Ikegawa S. Wang Z, et al. PLoS One. 2016 Mar 14;11(3):e0150555. doi: 10.1371/journal.pone.0150555. eCollection 2016. PLoS One. 2016. PMID: 26974433 Free PMC article.
Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity.
Iida A, Xing W, Docx MK, Nakashima T, Wang Z, Kimizuka M, Van Hul W, Rating D, Spranger J, Ohashi H, Miyake N, Matsumoto N, Mohan S, Nishimura G, Mortier G, Ikegawa S. Iida A, et al. Among authors: wang z. J Med Genet. 2016 Aug;53(8):568-74. doi: 10.1136/jmedgenet-2016-103756. Epub 2016 Apr 7. J Med Genet. 2016. PMID: 27055475 Free PMC article.
Autosomal recessive brachyolmia: early radiological findings.
Handa A, Tham E, Wang Z, Horemuzova E, Grigelioniene G. Handa A, et al. Among authors: wang z. Skeletal Radiol. 2016 Nov;45(11):1557-60. doi: 10.1007/s00256-016-2458-8. Epub 2016 Aug 21. Skeletal Radiol. 2016. PMID: 27544198
Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations.
Wang Z, Horemuzova E, Iida A, Guo L, Liu Y, Matsumoto N, Nishimura G, Nordgren A, Miyake N, Tham E, Grigelioniene G, Ikegawa S. Wang Z, et al. J Hum Genet. 2017 Apr;62(4):503-506. doi: 10.1038/jhg.2016.157. Epub 2017 Jan 26. J Hum Genet. 2017. PMID: 28123176
Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies.
Hammarsjö A, Wang Z, Vaz R, Taylan F, Sedghi M, Girisha KM, Chitayat D, Neethukrishna K, Shannon P, Godoy R, Gowrishankar K, Lindstrand A, Nasiri J, Baktashian M, Newton PT, Guo L, Hofmeister W, Pettersson M, Chagin AS, Nishimura G, Yan L, Matsumoto N, Nordgren A, Miyake N, Grigelioniene G, Ikegawa S. Hammarsjö A, et al. Among authors: wang z. Sci Rep. 2017 Nov 14;7(1):15585. doi: 10.1038/s41598-017-15442-1. Sci Rep. 2017. PMID: 29138412 Free PMC article.
Dysosteosclerosis is also caused by TNFRSF11A mutation.
Guo L, Elcioglu NH, Karalar OK, Topkar MO, Wang Z, Sakamoto Y, Matsumoto N, Miyake N, Nishimura G, Ikegawa S. Guo L, et al. Among authors: wang z. J Hum Genet. 2018 Jun;63(6):769-774. doi: 10.1038/s10038-018-0447-6. Epub 2018 Mar 22. J Hum Genet. 2018. PMID: 29568001
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