メンバー紹介

mabuchi
氏名
馬淵 昭彦, 博士(医学)
Akihiko Mabuchi, MD, PhD
連絡先
mabuchi[at]m.u-tokyo.ac.jp

略歴

2007年5月
東京大学大学院医学系研究科人類遺伝学教室准教授
2005年10月
東京大学医学部附属病院22世紀医療センター
臨床運動器医学講座客員助教授
2004年1月
東京大学医学部附属病院輸血部医員
2000年7月
理化学研究所遺伝子多型研究センター
変形性関節症関連遺伝子研究チーム研究員
1999年1月
東京大学医学部附属病院整形外科・脊椎外科助手
1997年1月
JR東京総合病院整形外科
1992年6月
東京大学医学部整形外科入局
1992年3月
東京大学医学部卒業

業績

  • Takatori Y, Ninomiya S, Nakamura S, Morimoto S, Moro T, Nagai I, and Mabuchi A: Long-term results of rotational acetabular osteotomy in patients with slight narrowing of the joint space on preoperative radiographic findings. J Orthop Sci 6: 137-140, 2001
  • Mabuchi A, Ikeda T, Fukuda A, Koshizuka Y, Hiraoka H, Miyoshi K, Haga N, Kawaguchi H, Kawakami A, Yamamoto S, Takatori Y, Nakamura K, and Ikegawa S: Identification of sequence polymorphisms of the COMP (cartilage oligomeric matrix protein) gene and association study in osteoarthrosis of the knee and hip joints. J Hum Genet 46: 456-462, 2001
  • Ikeda T, Mabuchi A, Fukuda A, Hiraoka H, Kawakami A, Yamamoto S, Machida H, Takatori Y, Kawaguchi H, Nakamura K, and Ikegawa S: Identification of sequence polymorphisms in two sulfation-related genes, PAPSS2 and SLC26A2, and an association analysis with knee osteoarthritis. J Hum Genet 46: 538-543, 2001
  • Mabuchi A, Haga N, Ikeda T, Manabe N, Ohashi H, Takatori Y, Nakamura K, and Ikegawa S: Novel mutation in exon 18 of the cartilage oligomeric matrix protein gene causes a severe pseudoachondroplasia. Am J Med Genet 104: 135-139, 2001
  • Koshizuka Y, Kawaguchi H, Ogata N, Ikeda T, Mabuchi A, Seichi A, Nakamura Y, Nakamura K, and Ikegawa S: Nucleotide pyrophosphatase gene polymorphism associated with ossification of the posterior longitudinal ligament of the spine. J Bone Miner Res 17: 138-144, 2002
  • Takatori Y, Nagai I, Moro T, Kuruta Y, Karita T, Mabuchi A, and Ninomiya S: Ten-year follow-up of a proximal circumferential porous-coated femoral prosthesis: radiographic evaluation and stability. J Orthop Sci 7: 68-73, 2002
  • Nagai I, Takatori Y, Kuruta Y, Moro T, Karita T, Mabuchi A, and Nakamura K: Nonself-centering Bateman bipolar endoprosthesis for nontraumatic osteonecrosis of the femoral head: a 12- to 18-year follow-up study. J Orthop Sci 7: 74-78, 2002
  • Chano T, Ikegawa S, Saito-Ohara F, Inazawa J, Mabuchi A, Saeki Y, and Okabe H: Isolation, characterization and mapping of the mouse and human RB1CC1 genes. Gene 291: 29-34, 2002
  • Ikeda T, Mabuchi A, Fukuda A, Kawakami A, Ryo Y, Yamamoto S, Miyoshi K, Haga N, Hiraoka H, Takatori Y, Kawaguchi H, Nakamura K, and Ikegawa S: Association analysis of single nucleotide polymorphisms in cartilage-specific collagen genes with knee and hip osteoarthritis in the Japanese population. J Bone Miner Res 17: 1290-1296, 2002
  • Ikegawa S, Mabuchi A, Ogawa M, and Ikeda T: Allele-specific PCR amplification due to sequence identity between a PCR primer and an amplicon: is direct sequencing so reliable? Hum Genet 110: 606-608, 2002
  • Ikeda T, Zhang J, Chano T, Mabuchi A, Fukuda A, Kawaguchi H, Nakamura K, and Ikegawa S: Identification and characterization of the human long form of Sox5 (L-SOX5) gene. Gene 298: 59-68, 2002
  • Shirahama S, Miyahara A, Kitoh H, Honda A, Kawase A, Yamada K, Mabuchi A, Kura H, Yokoyama Y, Tsutsumi M, Ikeda T, Tanaka N, Nishimura G, Ohashi H, and Ikegawa S: Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctata. Hum Genet 112: 78-83, 2003
  • Mabuchi A, Manabe N, Haga N, Kitoh H, Ikeda T, Kawaji H, Tamai K, Hamada J, Nakamura S, Brunetti-Pierri N, Kimizuka M, Takatori Y, Nakamura K, Nishimura G, Ohashi H, and Ikegawa S: Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia. Hum Genet 112: 84-90, 2003
  • Kawaji H, Nishimura G, Watanabe S, Mabuchi A, Ikeda T, Ohashi H, Sasaki A, Sano T, and Ikegawa S: Autosomal dominant precocious osteoarthropathy due to a mutation of the cartilage oligomeric matrix protein (COMP) gene: further expansion of the phenotypic variations of COMP defects. Skeletal Radiol 31: 730-737, 2002
  • Matsuyama J, Mabuchi A, Zhang J, Iida A, Ikeda T, Kimizuka M, and Ikegawa S: A pair of sibs with tibial hemimelia born to phenotypically normal parents. J Hum Genet 48: 173-176, 2003
  • Ikegawa S, Ikeda T, and Mabuchi A: Genetic analysis of osteoarthritis: toward identification of its susceptibility genes. J Orthop Sci 8: 737-739, 2003
  • Tokuhiro S, Yamada R, Chang X, Suzuki A, Kochi Y, Sawada T, Suzuki M, Nagasaki M, Ohtsuki M, Ono M, Furukawa H, Nagashima M, Yoshino S, Mabuchi A, Sekine A, Saito S, Takahashi A, Tsunoda T, Nakamura Y, and Yamamoto K: An intronic SNP in a RUNX1 binding site of SLC22A4, encoding an organic cation transporter, is associated with rheumatoid arthritis. Nat Genet 35: 341-348, 2003
  • Nakashima E, Mabuchi A, Kashimada K, Onishi T, Zhang J, Ohashi H, Nishimura G, and Ikegawa S: RMRP mutations in Japanese patients with cartilage-hair hypoplasia. Am J Med Genet A 123: 253-256, 2003
  • Nishimura G, Nakashima E, Mabuchi A, Shimamoto K, Shimamoto T, Shimao Y, Nagai T, Yamaguchi T, Kosaki R, Ohashi H, Makita Y, and Ikegawa S: Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type. J Med Genet 41: 75-79, 2004
  • Kochi Y, Yamada R, Kobayashi K, Takahashi A, Suzuki A, Sekine A, Mabuchi A, Akiyama F, Tsunoda T, Nakamura Y, and Yamamoto K: Analysis of single-nucleotide polymorphisms in Japanese rheumatoid arthritis patients shows additional susceptibility markers besides the classic shared epitope susceptibility sequences. Arthritis Rheum 50: 63-71, 2004
  • Nakashima E, Mabuchi A, Makita Y, Masuno M, Ohashi H, Nishimura G, and Ikegawa S: Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome. Hum Genet 114: 345-348, 2004
  • Mabuchi A, Momohara S, Ohashi H, Takatori Y, Haga N, Nishimura G, and Ikegawa S: Circulating COMP is decreased in pseudoachondroplasia and multiple epiphyseal dysplasia patients carrying COMP mutations. Am J Med Genet A 129: 35-38, 2004
  • Mabuchi A, Haga N, Maeda K, Nakashima E, Manabe N, Hiraoka H, Kitoh H, Kosaki R, Nishimura G, Ohashi H, and Ikegawa S: Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia. Hum Mutat 24: 439-440, 2004
  • Ikeda T, Kamekura S, Mabuchi A, Kou I, Seki S, Takato T, Nakamura K, Kawaguchi H, Ikegawa S, and Chung UI: The combination of SOX5, SOX6, and SOX9 (the SOX trio) provides signals sufficient for induction of permanent cartilage. Arthritis Rheum 50: 3561-3573, 2004
  • Nakashima E, Mabuchi A, Kubota M, Ishikiriyama S, Ohashi H, Nishimura G, and Ikegawa S: Novel and recurrent exon 13 mutations of COMP in pseudoachondroplasia. Am J Med Genet A 132: 108-109, 2005
  • Maeda K, Horikoshi T, Nakashima E, Miyamoto Y, Mabuchi A, and Ikegawa S: MATN and LAPTM are parts of larger transcription units produced by intergenic splicing: intergenic splicing may be a common phenomenon. DNA Res 12: 365-372, 2005
  • Kizawa H, Kou I, Iida A, Sudo A, Miyamoto Y, Fukuda A, Mabuchi A, Kotani A, Kawakami A, Yamamoto S, Uchida A, Nakamura K, Notoya K, Nakamura Y, and Ikegawa S: An aspartic acid repeat polymorphism in asporin inhibits chondrogenesis and increases susceptibility to osteoarthritis. Nat Genet 37: 138-144, 2005
  • Nakashima E, Kitoh H, Maeda K, Haga N, Kosaki R, Mabuchi A, Nishimura G, Ohashi H, and Ikegawa S: Novel COL9A3 mutation in a family with multiple epiphyseal dysplasia. Am J Med Genet A 132: 181-184, 2005
  • Maeda K, Nakashima E, Horikoshi T, Mabuchi A, and Ikegawa S: Mutation in the von Willebrand factor-A domain is not a prerequisite for the MATN3 mutation in multiple epiphyseal dysplasia. Am J Med Genet A 136: 285-286, 2005
  • Mototani H, Mabuchi A, Saito S, Fujioka M, Iida A, Takatori Y, Kotani A, Kubo T, Nakamura K, Sekine A, Murakami Y, Tsunoda T, Notoya K, Nakamura Y, and Ikegawa S: A functional single nucleotide polymorphism in the core promoter region of CALM1 is associated with hip osteoarthritis in Japanese. Hum Mol Genet 14: 1009-1017, 2005
  • Mabuchi A, Nakamura S, Takatori Y, and Ikegawa S: Familial osteoarthritis of the hip joint associated with acetabular dysplasia maps to chromosome 13q. Am J Hum Genet 79: 163-168, 2006
  • Miyamoto Y, Mabuchi A, Shi D, Kubo T, Takatori Y, Saito S, Fujioka M, Sudo A, Uchida A, Yamamoto S, Ozaki K, Takigawa M, Tanaka T, Nakamura Y, Jiang Q, Ikegawa S. A functional polymorphism in the 5' UTR of GDF5 is associated with susceptibility to osteoarthritis. Nat Genet. 39:529, 2007
  • Yoshimura N, Kinoshita H, Takijiri T, Oka H, Muraki S, Mabuchi A, Kawaguchi H, Nakamura K, Nakamura T. Association between height loss and bone loss, cumulative incidence of vertebral fractures and future quality of life: the Miyama study. Osteoporos Int. 2008 Jan;19(1):21-8.
  • Oka H, Muraki S, Akune T, Mabuchi A, Suzuki T, Yoshida H, Yamamoto S, Nakamura K, Yoshimura N, Kawaguchi H. Fully automatic quantification of knee osteoarthritis severity on plain radiographs. Osteoarthritis Cartilage. 2008 Nov;16(11):1300-6.
  • Muraki S, Oka H, Akune T, Mabuchi A, En-Yo Y, Yoshida M, Saika A, Suzuki T, Yoshida H, Ishibashi H, Yamamoto S, Nakamura K, Kawaguchi H, Yoshimura N. Prevalence of radiographic lumbar spondylosis and its association with low back pain in elderly subjects of population-based cohorts: the ROAD study. Ann Rheum Dis. 2009 Sep;68(9):1401-6.
  • Yoshimura N, Muraki S, Oka H, Mabuchi A, Kinoshita H, Yosihda M, Kawaguchi H, Nakamura K, Akune T. Epidemiology of lumbar osteoporosis and osteoarthritis and their causal relationship--is osteoarthritis a predictor for osteoporosis or vice versa?: the Miyama study. Osteoporos Int. 2009 Jun;20(6):999-1008.
  • Muraki S, Oka H, Akune T, Mabuchi A, En-yo Y, Yoshida M, Saika A, Suzuki T, Yoshida H, Ishibashi H, Yamamoto S, Nakamura K, Kawaguchi H, Yoshimura N. Prevalence of radiographic knee osteoarthritis and its association with knee pain in the elderly of Japanese population-based cohorts: the ROAD study. Osteoarthritis Cartilage. 2009 Sep;17(9):1137-43.
  • Muraki S, Akune T, Oka H, Mabuchi A, En-Yo Y, Yoshida M, Saika A, Nakamura K, Kawaguchi H, Yoshimura N. Association of occupational activity with radiographic knee osteoarthritis and lumbar spondylosis in elderly patients of population-based cohorts: a large-scale population-based study. Arthritis Rheum. 2009 Jun 15;61(6):779-86.
  • Yoshimura N, Muraki S, Oka H, Mabuchi A, En-Yo Y, Yoshida M, Saika A, Yoshida H, Suzuki T, Yamamoto S, Ishibashi H, Kawaguchi H, Nakamura K, Akune T. Prevalence of knee osteoarthritis, lumbar spondylosis, and osteoporosis in Japanese men and women: the research on osteoarthritis/osteoporosis against disability study. J Bone Miner Metab. 2009;27(5):620-8.
  • Yuliwulandari R, Sachrowardi Q, Nakajima H, Kashiwase K, Hirayasu K, Mabuchi A, Sofro AS, Tokunaga K. Association of HLA-A, -B, and -DRB1 with pulmonary tuberculosis in western Javanese Indonesia. Hum Immunol. 2010 Jul;71(7):697-701.
  • Saito T, Fukai A, Mabuchi A, Ikeda T, Yano F, Ohba S, Nishida N, Akune T, Yoshimura N, Nakagawa T, Nakamura K, Tokunaga K, Chung UI, Kawaguchi H. Transcriptional regulation of endochondral ossification by HIF-2alpha during skeletal growth and osteoarthritis development. Nat Med. 2010 Jun;16(6):678-86.
  • Evangelou E, Valdes AM, Kerkhof HJ et al.; Translation Research in Europe Applied Technologies for Osteoarthritis (TreatOA).Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22. Ann Rheum Dis. 2011 Feb;70(2):349-55.
  • Okamoto K, Tokunaga K, Doi K, Fujita T, Suzuki H, Katoh T, Watanabe T, Nishida N, Mabuchi A, Takahashi A, Kubo M, Maeda S, Nakamura Y, Noiri E. Common variation in GPC5 is associated with acquired nephrotic syndrome.
    Nat Genet. 2011 May;43(5):459-63.
  • Hirata M, Kugimiya F, Fukai A, Saito T, Yano F, Ikeda T, Mabuchi A, Sapkota BR, Akune T, Nishida N, Yoshimura N, Nakagawa T, Tokunaga K, Nakamura K, Chung UI, Kawaguchi H. C/EBPβ and RUNX2 cooperate to degrade cartilage with MMP-13 as the target and HIF-2α as the inducer in chondrocytes. Hum Mol Genet. 2012 Mar 1;21(5):1111-23.
  • Takamoto M, Kaburaki T, Mabuchi A, Araie M, Amano S, Aihara M, Tomidokoro A, Iwase A, Mabuchi F, Kashiwagi K, Shirato S, Yasuda N, Kawashima H, Nakajima F, Numaga J, Kawamura Y, Sasaki T, Tokunaga K. Common variants on chromosome 9p21 are associated with normal tension glaucoma. PLoS One. 2012;7(7):e40107.