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Human Genetics|December 17, 2002
Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctataShuya Shirahama, Akira Miyahara, Hiroshi Kitoh, et al.
Nature Genetics|January 11, 2005
An aspartic acid repeat polymorphism in asporin inhibits chondrogenesis and increases susceptibility to osteoarthritisHideki Kizawa, Ikuyo Kou, Aritoshi Iida, et al.
Human Molecular Genetics|March 5, 2005
A functional single nucleotide polymorphism in the core promoter region of CALM1 is associated with hip osteoarthritis in JapaneseHideyuki Mototani, Akihiko Mabuchi, Susumu Saito, et al.
Scientific Reports|October 24, 2018
Identification of a two-SNP PLA2R1 Haplotype and HLA-DRB1 Alleles as Primary Risk Associations in Idiopathic Membranous NephropathyKhun Zaw Latt, Kenjiro Honda, Myo Thiri, et al.
Nature Genetics|March 27, 2007
A functional polymorphism in the 5' UTR of GDF5 is associated with susceptibility to osteoarthritisYoshinari Miyamoto, Akihiko Mabuchi, Dongquan Shi, et al.
Human Genetics|December 17, 2002
Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasiaAkihiko Mabuchi, Noriyo Manabe, Nobuhiko Haga, et al.
Human Molecular Genetics|November 19, 2011
C/EBPβ and RUNX2 cooperate to degrade cartilage with MMP-13 as the target and HIF-2α as the inducer in chondrocytesMakoto Hirata, Fumitaka Kugimiya, Atsushi Fukai, et al.
Plos One|July 14, 2012
Common variants on chromosome 9p21 are associated with normal tension glaucomaMitsuko Takamoto, Toshikatsu Kaburaki, Akihiko Mabuchi, et al.
Scientific Reports|March 25, 2023
A common variant rs2054564 in ADAMST17 is associated with susceptibility to lumbar spondylosisYuki Taniguchi, Toru Akune, Nao Nishida, et al.
Nature Genetics|November 11, 2003
An intronic SNP in a RUNX1 binding site of SLC22A4, encoding an organic cation transporter, is associated with rheumatoid arthritisShinya Tokuhiro, Ryo Yamada, Xiaotian Chang, et al.
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