研究所

トップページ研究所研究分野紹介分子遺伝学分野業績

分子遺伝学分野 業績

2020年

  1. Osumi K, Suga K, Ono A, Goji A, Mori T, Kinoshita Y, Sugano M, Toda Y, Urushihara M, Nakagawa R, Hayabuchi Y, Imoto I, Shoji Kagami S. Molecular diagnosis of an infant with TSC2/PKD1 contiguous gene syndrome. Hum Genome Var. (in press).
  2. Tsuchiya M, Yamada T, Akaishi R, Hamanoue H, Hirasawa A, Hyodo M, Imoto I, Kosho T, Kurosawa K, Murakami H, Nakatani K, Nomura F, Sasaki A, Shimizu K, Tamai M, Umemura H, Watanabe A, Yoshida A, Yoshihashi H, Yotsumoto J, Kosugi S. Attitudes toward and current status of disclosure of secondary findings from next-generation sequencing: A nation-wide survey of clinical genetics professionals in Japan. J Hum Genet. 2020 Jul 13. doi: 10.1038/s10038-020-0802-2.( Online ahead of print.)
  3. Lin Y, Nakatochi M, Hosono Y, Ito H, Kamatani Y, Inoko A, Sakamoto H, Kinoshita F, Kobayashi Y, Ishii H, Ozaka M, Sasaki T, Matsuyama M, Sasahira N, Morimoto M, Kobayashi S, Fukushima T, Ueno M, Ohkawa S, Egawa N, Kuruma S, Mori M, Nakao H, Adachi Y, Okuda M, Osaki T, Kamiya S, Wang C, Hara K, Shimizu Y, Miyamoto T, Hayashi Y, Ebi H, Kohmoto T, Imoto I, Kasugai Y, Murakami Y, Akiyama M, Ishigaki K, Matsuda K, Hirata M, Shimada K, Okusaka T, Kawaguchi T, Takahashi M, Watanabe Y, Kuriki K, Kadota A, Okada R, Mikami H, Takezaki T, Suzuki S, Yamaji T, Iwasaki M, Sawada N, Goto A, Kinoshita K, Fuse N, Katsuoka F, Shimizu A, Nishizuka SS, Tanno K, Suzuki K, Okada Y, Horikoshi M, Yamauchi T, Kadowaki T, Yu H, Zhong J, Amundadottir LT, Doki Y, Ishii H, Eguchi H, Bogumil D, Haiman CA, Le Marchand L, Mori M, Risch H, Setiawan VW, Tsugane S, Wakai K, Yoshida T, Matsuda F, Kubo M, Kikuchi S, Matsuo K. Genome-wide association meta-analysis identifies GP2 gene risk variants for pancreatic cancer. Nat Commun. 2020 Jun 24;11(1):3175.
  4. Ishigaki K, Akiyama M, Kanai M, Takahashi A, Kawakami E, Sugishita H, Sakaue S, Matoba N, Low SK, Okada Y, Terao C, Amariuta T, Gazal S, Kochi Y, Horikoshi M, Suzuki K, Ito K, Koyama S, Ozaki K, Niida S, Sakata Y, Sakata Y, Kohno T, Shiraishi K, Momozawa Y, Hirata M, Matsuda K, Ikeda M, Iwata N, Ikegawa S, Kou I, Tanaka T, Nakagawa H, Suzuki A, Hirota T, Tamari M, Chayama K, Miki D, Mori M, Nagayama S, Daigo Y, Miki Y, Katagiri T, Ogawa O, Obara W, Ito H, Yoshida T, Imoto I, Takahashi T, Tanikawa C, Suzuki T, Sinozaki N, Minami S, Yamaguchi H, Asai S, Takahashi Y, Yamaji K, Takahashi K, Fujioka T, Takata R, Yanai H, Masumoto A, Koretsune Y, Kutsumi H, Higashiyama M, Murayama S, Minegishi N, Suzuki K, Tanno K, Shimizu A, Yamaji T, Iwasaki M, Sawada N, Uemura H, Tanaka K, Naito M, Sasaki M, Wakai K, Tsugane S, Yamamoto M, Yamamoto K, Murakami Y, Nakamura Y, Raychaudhuri S, Inazawa J, Yamauchi T, Kadowaki T, Kubo M, Kamatani Y. Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases. Nat Genet. 2020;52(7):669-679.
  5. Sato Y, Tajima A, Kiguchi M, Kogusuri S, Fujii A, Sato T, Nozawa S, Yoshiike M, Naka-Mieno M, Kojo K, Uchida M, Tsuchiya H, Yamasaki K, Imoto I, Yamauchi A, Iwamoto T. Genome-wide association study of semen volume, sperm concentration, testis size, and plasma inhibin B levels. J Hum Genet 2020;65(8):683-691.
  6. Ichihara A, Yasue A, Mitsui SN, Arai D, Minegishi Y, Oyadomari S, Imoto I, Tanaka E. The C-terminal region including the MH6 domain of Msx1 regulates skeletal development. Biochem Biophys Res Commun. 2020;526(1):62-69.
  7. Koyanagi Y, Suzuki E, Imoto I, Kasugai Y, Isao Oze I, Ugai T, Iwase M, Usui Y, Kawakatsu Y, Sawabe M, Hirayama Y, Tanaka T, Abe T, Ito S, Komori K, Hanai N, Tajika M, Shimizu Y, Niwa Y, Ito H, Matsuo K. Across-site differences in the mechanism of alcohol-induced digestive tract carcinogenesis: an evaluation by mediation analysis. Cancer Res 2020;80(7):1601-1610.
  8. Kohmoto T, Masuda K, Shoda K, Takahashi R, Ujiro S, Tange S, Ichikawa D, Otsuji E, Imoto I*. Claudin-6 is a single prognostic marker and functions as a tumor-promoting gene in a subgroup of intestinal type gastric cancer. Gastric Cancer. 2020; 23(3): 403-417.
  9. Akahane T, Hirasawa A, Imoto I, Okubo A, Itoh M, Nanki Y, Yoshihama T, Tominaga E, Aoki D. Establishment and characterization of a new malignant peritoneal mesothelioma cell line, KOG-1, from the ascitic fluid of a patient with pemetrexed chemotherapy resistance. Hum Cell 2020;33(1):272-282.

2019年

  1. Miyake K, Sakane A, Tsuchiya Y, Sagawa I, Tomida Y, Kasahara J, Imoto I, Watanabe S, Higo D, Mizuguchi K, Sasaki T. Actin cytoskeletal reorganization function of JRAB/MICAL-L2 is fine-tuned by intramolecular interaction between first LIM zinc finger and C-terminal coiled-coil domains. Sci Rep. 2019;9:12794.
  2. Mori T, Goji A,, Toda Y, Ito H, Mori K, Kohmoto T, Imoto I, Kagami S. A 16q22.2-q23.1 deletion identified in a male infant with West syndrome. Brain Dev. 2019;41(10):888-893.
  3. Taguchi I, Yamada T, Akaishi R, Imoto I, Kurosawa K, Nakatani K, Nomura F, Hamanoue H, Hyodo M, Murakami H, Yoshihashi H, Yotsumoto J, Kosugi S. Attitudes of clinical geneticists and certified genetic counselors to genome editing and its clinical applications: A nation-wide questionnaire survey in Japan. J Hum Genet. 2019;64(9):945-954
  4. Tsuboi M, Kondo K, Masuda K, Tange S, Kajiura K, Kohmoto T, Watanabe M, Takizawa H, Imoto I, Tangoku A. Prognostic significance of GAD1 overexpression in patients with resected lung adenocarcinoma. Cancer Medicine. (in press)
  5. Kikuchi-Koike R, Nagasaka K, Tsuda H, Ishii Y, Sakamoto M, Kikuchi Y, Fukui S, Miyagawa Y, Hiraike H, Kobayashi T, Kinoshita T, Kanai Y, Shibata T, Imoto I, Inazawa J, Matsubara O, Ayabe T. Array comparative genomic hybridization analysis discloses chromosome copy number alterations as indicators of patient outcome in lymph node-negative breast cancer. BMC Cancer. 2019;19(1):521.
  6. Fukuda D, Nishimoto S, Aini K, Tanaka A, Nishiguchi T, Kim-Kaneyama J, Lei XF, Masuda K, Naruto T, Tanaka K, Higashikuni Y, Hirata Y, Yagi S, Kusunose K, Yamada H, Soeki T, Imoto I, Akasaka T, Shimabukuro M, Sata M. Toll-like receptor 9 plays a pivotal role in angiotensin ll-induced atherosclerosis. J Am Heart Assoc. 2019;8(7):e010860
  7. Okano S, Makita Y, Katada A, Harabuchi Y, Kohmoto T, Naruto T, Masuda K, Imoto I. Novel compound heterozygous CDH23 variants in a patient with Usher syndrome type I. Hum Genome Var. 2019;6:8.

2018年

  1. Tanikawa C, Kamatani Y, Toyoshima O, Sakamoto H, Ito H, Takahashi A, Momozawa Y, Hirata M, Fuse N, Takai-Igarashi T, Shimizu A, Sasaki M, Yamaji T, Sawada N, Iwasaki M, Tsugane S, Naito M, Hishida A, Wakai K, Furusyo N, Murakami Y, Nakamura Y, Imoto I, Inazawa J, Oze I, Sato N, Tanioka F, Sugimura H, Hirose H, Yoshida T, Matsuo K, Kubo M, Matsuda K. A GWAS identifies gastric cancer susceptibility loci at 12q24.11-1 12 and 20q11.21. Cancer Sci. 2018;109(12):4015-4024.
  2. Miki A, Sakurada Y, Tanaka K, Semba K, Mitamura Y, Yuzawa M, Tajima A, Nakatochi M, Yamamoto K, Matsuo K, Imoto I, Honda S. Genome-wide association study to identify a new susceptibility locus for central serous chorioretinopathy in the Japanese population. Invest Ophthalmol Vis Sci. 2018;59(13):5542-5547
  3. Hara T, Phuong PT, Fukuda D, Yamaguchi K, Murata C, Nishimoto S, Yagi S, Kusunose K, Yamada H, Soeki T, Wakatsuki T, Imoto I, Shimabukuro M, Sata M. Protease-activated receptor-2 plays a critical role in vascular inflammation and atherosclerosis in apolipoprotein e-deficient mice. Circulation. 2018;38(16):1706-1719.. doi: 10.1161/CIRCULATIONAHA.118.033544.
  4. Okamoto N, Kohmoto T, Naruto T, Masuda K, Imoto I*. Primary microcephaly caused by novel compound heterozygous mutations in ASPM. Hum Genome Var. 2018;5:18015 doi: 10.1038/hgv.2018.15
  5. Sato Y, Tajima A, Sato T, Nozawa S, Yoshiike M, Imoto I, Yamauchi A, Iwamoto T. Genome-wide association study identifies ERBB4 on 2q34 as a novel locus associated with sperm motility in Japanese men. J Med Genet. 2018;55(6):415-21. doi: 10.1136/jmedgenet-2017-104991.
  6. Enya T, Okamoto N, Iba Y, Miyazawa T, Okada M, Ida S, Naruto T, Imoto I, Fujita A, Miyake N, Matsumoto N, Sugimoto K, Takemura T. Three patients with Schaaf-Yang syndrome exhibiting arthrogryposis and endocrinological abnormalities. Am J Med Genet A. 2018;176(3):707-11. doi: 10.1002/ajmg.a.38606
  7. Tokaji N, Ito H, Kohmoto T, Naruto T, Takahashi R, Goji A, Mori M, Toda Y, Saito M, Tange S, Masuda K, Kagami S, Imoto I*. A rare male patient with classic Rett syndrome caused by MeCP2_e1 mutation. Am J Med Genet A. 2018;176(3):699-702. doi: 10.1002/ajmg.a.38595
  8. Harada R, Kimura M, Sato Y, Taniguchi T, Tomonari T, Tanaka T, Tanaka H, Muguruma N, Shinomiya H, Honda H, Imoto I, Sogabe M, Okahisa T, Takayama T. APOB codon 4311 polymorphism is associated with hepatitis C virus infection through altered lipid metabolism. BMC Gastroenterol. 2018;18:24. doi: 10.1186/s12876-018-0747-5
  9. Eguchi M, Ozaki E, Yamauchi T, Ohta M, Higaki T, Masuda K, Imoto I, Ishii E, Eguchi-Ishimae M. Manifestation of recessive combined D-2-, L-2-hydroxyglutaric aciduria in combination with 22q11.2 deletion syndrome. Am J Med Genet A. 2018;176:351-8. doi: 10.1002/ajmg.a.38578.

2017年

  1. Hirasawa A, Imoto I*, Naruto T, Akahane T, Yamagami W, Nomura H, Masuda K, Susumu N, Tsuda H, Aoki D. Prevalence of pathogenic germline variants detected by multigene sequencing in unselected Japanese patients with ovarian cancer. Oncotarget. 2017;8:112258-67. doi:10.18632/oncotarget.22733
  2. Fujita Y, Masuda K, Hamada J, Shoda K, Naruto T, Hamada S, Miyakami Y, Kohmoto T, Watanabe M, Takahashi R, Tange S, Saito M, Kudo Y, Fujiwara H, Ichikawa D, Tangoku A, Otsuji E, Imoto I*. KH-type splicing regulatory protein is involved in esophageal squamous cell carcinoma progression. Oncotarget. 2017;8:101130-45. doi: 10.18632/oncotarget.20926.
  3. Kajiura K, Takizawa H, Morimoto Y, Masuda K, Tsuboi M, Kishibuchi R, Wusiman N, Sawada T, Kawakita N, Toba H, Yoshida M, Kawakami Y, Naruto T, Imoto I, Tangoku A, Kondo K. Frequent silencing of RASSF1A by DNA methylation in thymic neuroendocrine tumours. Lung Cancer. 2017;111:116-23. doi: 10.1016/j.lungcan.2017.05.019.
  4. Okamoto N, Kohmoto T, Naruto T, Masuda K, Komori T, Imoto I*. Novel CLCN7 compound heterozygous mutations in intermediate autosomal recessive osteopetrosis. Hum Genome Var. 2017;4:17036. doi: 10.1038/hgv.2017.36.
  5. Okada A, Kohmoto T, Naruto T, Yokota I, Kotani M, Shimada A, Miyamoto Y, Takahashi R, Goji A, Masuda K, Kagami S, Imoto I*. The first Japanese patient with mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) diagnosed via POLD1 mutation detection. Hum Genome Var. 2017;4:17031;doi10.1038/hgv/2017.31.
  6. Kohmoto T, Masuda K, Naruto T, Tange S, Shoda K, Hamada J, Saito M, Ichikawa D, Tajima A, Otsuji E, Imoto I*. Construction of a combinatorial pipeline using two somatic variant calling methods for whole exome sequence data of gastric cancer. J Med Invest. 2017;64:223-240. doi: 10.2152/jmi.64.233
  7. Obata F, Tani K, Yamaguchi H, Tabata R, Bando H, Imoto I. Comparison of the efficacy and safety of 10-mg empagliflozin every day versus every other day in Japanese patients with Type 2 Diabetes Mellitus: a pilot trial. J Med Invest. 2017;64:50-57.
  8. Nishi A, Numata S, Tajima A, Zhu X, Ito K, Saito A, Kato Y, Kinoshita M, Shimodera S, Ono S, Ochi S, Imamura A, Kurotaki N, Ueno SI, Iwata N, Fukui K, Imoto I, Kamiya A, Ohmori T. De novo non-synonymous TBL1XR1 mutation alters Wnt signaling activity. Sci Rep. 2017;7(1):2887. doi: 10.1038/s41598-017-02792-z.
  9. Yoshimaru T, Ono M, Bando Y, Chen YA, Mizuguchi K, Komatsu M, Shima H, Imoto I, Izumi K, Honda J, Miyoshi Y, Sasa M, Katagiri T. A-kinase anchoring protein BIG3 coordinates oestrogen signaling in breast cancer cells. Nat Commun. 2017;8:15427. doi: 10.1038/ncomms15427
  10. Kohmoto T, Okamoto N, Naruto T, Murata C, Ouchi Y, Fujita N, Inagaki H, Satomura S, Okamoto N, Saito M, Masuda K, Kurahashi H, Imoto I*. A case with concurrent duplication, triplication, and uniparental isodisomy at 1q42.12-qter supporting microhomology-mediated break-induced replication model for replicative rearrangements. Mol Cytogenet. 2017;10:15. doi: 10.1186/s13039-017-0316-6.
  11. Sato Y, Tajima A, Katsurayama M, Nozawa S, Yoshiike M, Koh E, Kanaya J, Namiki M, Matsumiya K, Tsujimura A, Komatsu K, Itoh N, Eguchi J, Imoto I, Yamauchi A, Iwamoto T. An independent validation study of three single nucleotide polymorphisms at the sex hormone-binding globulin locus for testosterone levels identified by genome-wide association studies. Hum Reprod Open. 2017:hox002. Doi. 10.193/hropen/hox002
  12. Matsudate Y, Naruto T, Hayashi Y, Minami M, Tohyama M, Yokota K, Yamada D, Imoto I, Kubo Y. Targeted exome sequencing and chromosomal microarray for the molecular diagnosis of nevoid basal cell carcinoma syndrome. J Dermatol Sci. 2017;86(3):206-11. doi: 10.1016/j.jdermsci.2017.02.282.
  13. Shoda K, Ichikawa D, Fujita Y, Masuda K, Hiramoto H, Hamada J, Arita T, Konishi H, Kosuga T, Komatsu S, Shinozaki A, Okamoto K, Imoto I*, Otsuji E. Clinical utility of circulating cell-free Epstein-Barr virus DNA in patients with gastric cancer. Oncotarget. 2017;8(17):28796-28804. doi: 10.18632/oncotarget.15675.
  14. Kinoshita M, Numata S, Tajima A, Yamamori H, Yasuda Y, Fujimoto M, Watanabe S, Umehara H, Shimodera S, Nakazawa T, Kikuchi M, Nakaya A, Hashimoto H, Imoto I, Hashimoto R, Ohmori T. Effect of Clozapine on DNA Methylation in Peripheral Leukocytes from Patients with Treatment-Resistant Schizophrenia. Int J Mol Sci. 2017;18(3). pii: E632. doi: 10.3390/ijms18030632.
  15. Kohmoto T, Naruto T, Watanabe M, Fujita Y, Ujiro S, Okamoto N, Horikawa H, Masuda K, Imoto I*. A 590 kb deletion caused by non-allelic homologous recombination between two LINE-1 elements in a patient with mesomelia-synostosis syndrome. Am J Med Genet A. 2017;173(4):1082-1086. doi: 10.1002/ajmg.a.38122.
  16. Shoda K, Ichikawa D, Fujita Y, Masuda K, Hiramoto H, Hamada J, Arita T, Konishi H, Komatsu S, Shinozaki A, Kakihara N, Okamoto K, Taniguchi H, Imoto I*, Otsuji E. Monitoring the HER2 copy number status in circulating tumor DNA by droplet digital PCR in patients with gastric cancer. Gastric Cancer. 2017;20:126-135. doi. 10.1007/s10120-016-0599-z.
  17. Kajiura K, Masuda K, Naruto T, Kohmoto T, Watanabe M, Tsuboi M, Takizawa H, Kondo K, Tangoku A, Imoto I*. Frequent silencing of the candidate tumor suppressor TRIM58 by promoter methylation in early-stage lung adenocarcinoma. Oncotarget. 2017;8(2):2890-2905. doi: 10.18632/oncotarget.13761.
  18. Okamoto N, Watanabe M, Naruto T, Matsuda K, Kohmoto T, Saito M, Masuda K, Imoto I*. Genome-first approach diagnosed Cabezas syndrome via novel CUL4B mutation detection. Hum Genome Var. 2017;4:16045 doi: 10.1038/hgv.2016.45