TEL.0725-56-1220
languageEnglish
tel
MENU CLOSE
当センターについて
出産をご希望の方
採用情報
看護部
キービジュアル

分子遺伝病研究部門

業績

年度を選択

選択する

2022年

  1. Phenotypic and mutational spectrum of ROR2-related Robinow syndrome. Lima AR, Ferreira BM, Zhang C, Jolly A, Du H, WhiteJJ, Dawood M, Lins TC, Chiabai MA, van Beusekom E, Cordoba MS, Caldas Rosa ECC, Kayserili H, Kimonis V, Wu E, Mellado C, Aggarwal V, Richieri-Costa A, Brunoni D, Canó TM, Jorge AAL, Kim CA, Honjo R, Bertola DR, Dandalo-Girardi RM, Bayram Y, Gezdirici A, Yilmaz-Gulec E, Gumus E, Yilmaz GC, Okamoto N, Ohashi H, Coban-Akdemir Z, Mitani T, Jhangiani SN, Muzny DM, Regattieri NAP, Pogue R, Pereira RW, Otto PA, Gibbs RA, Ali BR, van Bokhoven H, Brunner HG, Reid Sutton V, Lupski JR, Vianna-Morgante AM, Carvalho CMB, Mazzeu JF. Hum Mutat. 2022 Jul;43(7):900-918.
  2. Tachibana N, Hosono K, Nomura S, Arai S, Torii K, Kurata K, Sato M, Shimakawa S, Azuma N, Ogata T, Wada Y, Okamoto N, Saitsu H, Nishina S, Hotta Y.
    Genes (Basel). Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: SRD5A3-Congenital Disorders of Glycosylation and RP1-Related Retinitis Pigmentosa.
    Genes (Basel). 2022 Feb 16;13(2):359.
  3. Suzuki H, Nozaki M, Yoshihashi H, Imagawa K, Kajikawa D, Yamada M, Yamaguchi Y, Morisada N, Eguchi M, Ohashi S, Ninomiya S, Seto T, Tokutomi T, Hida M, Toyoshima K, Kondo M, Inui A, Kurosawa K, Kosaki R, Ito Y, Okamoto N, Kosaki K, Takenouchi T. Genome Analysis in Sick Neonates and Infants: High-yield Phenotypes and Contribution of Small Copy Number Variations.
    J Pediatr. 2022 May;244:38-48.e1.
  4. Nagai K, Niihori T, Okamoto N, Kondo A, Suga K, Ohhira T, Hayabuchi Y, Homma Y, Nakagawa R, Ifuku T, Abe T, Mizuguchi T, Matsumoto N, Aoki Y.  Duplications in the G3 domain or switch II region in HRAS identified in patients with Costello syndrome.
    Hum Mutat. 2022 Jan;43(1):3-15.
  5. Okamoto N, Miya F, Tsunoda T, Kanemura Y, Saitoh S, Kato M, Yanagi K, Kaname T, Kosaki K.　Four pedigrees with aminoacyl-tRNA synthetase abnormalities.
    Neurol Sci. 2022 Apr;43(4):2765-2774.

2021年

  1. Okamoto N, Ohto T, Enokizono T, Wada Y, Kohmoto T, Imoto I, Haga Y, Seino J, Suzuki T. Siblings with MAN1B1-CDG Showing Novel Biochemical Profiles.
    Cells. 2021 Nov 10;10(11):3117.
  2. Daimon E, Shibukawa Y, Thanasegaran S, Yamazaki N, Okamoto N.　 Macrothrombocytopenia of Takenouchi-Kosaki syndrome is ameliorated by CDC42 specific- and lipidation inhibitors in MEG-01 cells.　Sci Rep. 2021 Sep 9;11(1):17990.
  3. Hiraide T, Wada Y, Matsubayashi T, Kadoya M, Masunaga Y, Ohkubo Y, Nakashima M, Okamoto N, Ogata T, Saitsu H. 1. Novel ALG12 variants and hydronephrosis in siblings with impaired N-glycosylation.
    Brain Dev. 2021 Oct;43(9):945-951.
  4. Masunaga Y, Mochizuki M, Kadoya M, Wada Y, Okamoto N, Fukami M, Kato F, Saitsu H, Ogata T. Primary ovarian insufficiency in a female with phosphomannomutase-2 gene (PMM2) mutations for congenital disorder of glycosylation.
    Endocr J. 2021 May 28;68(5):605-611.
  5. Yamamoto-Shimojima K, Akagawa H, Yanagi K, Kaname T, Okamoto N, Yamamoto T.
    Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease.
    Hum Genome Var. 2021 Apr 1;8(1):14.
  6. Okamoto N, Miya F, Kitai Y, Tsunoda T, Kato M, Saitoh S, Kanemura Y, Kosaki K. Homozygous ADCY5 mutation causes early-onset movement disorder with severe intellectual disability.
    Neurol Sci. 2021 Jul;42(7):2975-2978.
  7. Faundes V, Goh S, Akilapa R, Bezuidenhout H, Bjornsson HT, Bradley L, Brady AF, Brischoux-Boucher E, Brunner H, Bulk S, Canham N, Cody D, Dentici ML, Digilio MC, Elmslie F, Fry AE, Gill H, Hurst J, Johnson D, Julia S, Lachlan K, Lebel RR, Byler M, Gershon E, Lemire E, Gnazzo M, Lepri FR, Marchese A, McEntagart M, McGaughran J, Mizuno S, Okamoto N, Rieubland C, Rodgers J, Sasaki E, Scalais E, Scurr I, Suri M, van der Burgt I, Matsumoto N, Miyake N, Benoit V, Lederer D, Banka S. Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.
    Genet Med. 2021 Jul;23(7):1202-1210.
  8. Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities. Chowdhury F, Wang L, Al-Raqad M, Amor DJ, Baxová A, Bendová Š, Biamino E, Brusco A, Caluseriu O, Cox NJ, Froukh T, Gunay-Aygun M, Hančárová M, Haynes D, Heide S, Hoganson G, Kaname T, Keren B, Kosaki K, Kubota K, Lemons JM, Magriña MA, Mark PR, McDonald MT, Montgomery S, Morley GM, Ohnishi H, Okamoto N, Rodriguez-Buritica D, Rump P, Sedláček Z, Schatz K, Streff H, Uehara T, Walia JS, Wheeler PG, Wiesener A, Zweier C, Kawakami K, Wentzensen IM, Lalani SR, Siu VM, Bi W, Balci TB.
    Genet Med. 2021 Jul;23(7):1234-1245.
  9. Zarate YA, Uehara T, Abe K, Oginuma M, Harako S, Ishitani S, Lehesjoki AE, Bierhals T, Kloth K, Ehmke N, Horn D, Holtgrewe M, Anderson K, Viskochil D, Edgar-Zarate CL, Sacoto MJG, Schnur RE, Morrow MM, Sanchez-Valle A, Pappas J, Rabin R, Muona M, Anttonen AK, Platzer K, Luppe J, Gburek-Augustat J, Kaname T, Okamoto N, Mizuno S, Kaido Y, Ohkuma Y, Hirose Y, Ishitani T, Kosaki K. CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants.
    Genet Med. 2021 Jun;23(6):1050-1057.
  10. Wada Y, Okamoto N.
    Apolipoprotein C-III O-glycoform profiling of 500 serum samples by matrix-assisted laser desorption/ionization mass spectrometry for diagnosis of congenital disorders of glycosylation.
    J Mass Spectrom. 2021 Apr;56(4):e4597.
  11. Anzai R, Tsuji M, Yamashita S, Wada Y, Okamoto N, Saitsu H, Matsumoto N, Goto T.
    Congenital disorders of glycosylation type IIb with MOGS mutations cause early infantile epileptic encephalopathy, dysmorphic features, and hepatic dysfunction.
    Brain Dev. 2021 Mar;43(3):402-410.
  12. Tajima D, Nakamura T, Ichinose F, Okamoto N, Tomonoh Y, Uda K, Furukawa R, Tashiro K, Matsuo M. Transient hypoglycorrhachia with paroxysmal abnormal eye movement in early infancy. Brain Dev. 2021 Mar;43(3):482-485.
  13. Sakamoto M, Iwama K, Sekiguchi F, Mashimo H, Kumada S, Ishigaki K, Okamoto N, Behnam M, Ghadami M, Koshimizu E, Miyatake S, Mitsuhashi S, Mizuguchi T, Takata A, Saitsu H, Miyake N, Matsumoto N. Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy.
    J Hum Genet. 2021 Apr;66(4):401-407.
  14. Mizuguchi T, Okamoto N, Yanagihara K, Miyatake S, Uchiyama Y, Tsuchida N, Hamanaka K, Fujita A, Miyake N, Matsumoto N. Pathogenic 12-kb copy-neutral inversion in syndromic intellectual disability identified by high-fidelity long-read sequencing.
    Genomics. 2021 Jan;113(1 Pt 2):1044-1053.
  15. Uchiyama Y, Yamaguchi D, Iwama K, Miyatake S, Hamanaka K, Tsuchida N, Aoi H, Azuma Y, Itai T, Saida K, Fukuda H, Sekiguchi F, Sakaguchi T, Lei M, Ohori S, Sakamoto M, Kato M, Koike T, Takahashi Y, Tanda K, Hyodo Y, Honjo RS, Bertola DR, Kim CA, Goto M, Okazaki T, Yamada H, Maegaki Y, Osaka H, Ngu LH, Siew CG, Teik KW, Akasaka M, Doi H, Tanaka F, Goto T, Guo L, Ikegawa S, Haginoya K, Haniffa M, Hiraishi N, Hiraki Y, Ikemoto S, Daida A, Hamano SI, Miura M, Ishiyama A, Kawano O, Kondo A, Matsumoto H, Okamoto N, Okanishi T, Oyoshi Y, Takeshita E, Suzuki T, Ogawa Y, Handa H, Miyazono Y, Koshimizu E, Fujita A, Takata A, Miyake N, Mizuguchi T, Matsumoto N.
    Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses. Hum Mutat. 2021 Jan;42(1):50-65.
  16. Malhotra A, Ziegler A, Shu L, Perrier R, Amlie-Wolf L, Wohler E, Lygia de Macena Sobreira N, Colin E, Vanderver A, Sherbini O, Stouffs K, Scalais E, Serretti A, Barth M, Navet B, Rollier P, Xi H, Wang H, Zhang H, Perry DL, Ferrarini A, Colombo R, Pepler A, Schneider A, Tomiwa K, Okamoto N, Matsumoto N, Miyake N, Taft R, Mao X, Bonneau D.  De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features.
    J Med Genet. 2021 Oct;58(10):712-716.

2020年

  1. Uehara T, Abe K, Oginuma M, Ishitani S, Yoshihashi H, Okamoto N, Takenouchi T, Kosaki K, Ishitani T. Pathogenesis of CDK8-associated disorder: two patients with novel CDK8 variants and in vitro and in vivo functional analyses of the variants.
  2. Yanagishita T, Imaizumi T, Yamamoto-Shimojima K, Yano T, Okamoto N, Nagata S, Yamamoto T. Breakpoint junction analysis for complex genomic rearrangements with the caldera volcano-like pattern.
  3. Hamada N, Ito H, Shibukawa Y, Morishita R, Iwamoto I, Okamoto N, Nagata KI. Neuropathophysiological significance of the c.1449T>C/p.(Tyr64Cys) mutation in the CDC42 gene responsible for Takenouchi-Kosaki syndrome.
  4. Cappuccio G, Sayou C, Tanno PL, Tisserant E, Bruel AL, Kennani SE, Sá J, Low KJ, Dias C, Havlovicová M, Hančárová M, Eichler EE, Devillard F, Moutton S, Van-Gils J, Dubourg C, Odent S, Gerard B, Piton A, Yamamoto T, Okamoto N, Firth H, Metcalfe K, Moh A, Chapman KA, Aref-Eshghi E, Kerkhof J, Torella A, Nigro V, Perrin L, Piard J, Le Guyader G, Jouan T, Thauvin-Robinet C, Duffourd Y, George-Abraham JK, Buchanan CA, Williams D, Kini U, Wilson K; Telethon Undiagnosed Diseases Program, Sousa SB, Hennekam RCM, Sadikovic B, Thevenon J, Govin J, Vitobello A, Brunetti-Pierri N. De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome.
  5. Watanabe H, Higashimoto K, Miyake N, Morita S, Horii T, Kimura M, Suzuki T, Maeda T, Hidaka H, Aoki S, Yatsuki H, Okamoto N, Uemura T, Hatada I, Matsumoto N, Soejima H.　DNA methylation analysis of multiple imprinted DMRs in Sotos syndrome reveals IGF2-DMR0 as a DNA methylation-dependent, P0 promoter-specific enhancer.
    FASEB J. 2020 Jan;34(1):960-973.
  6. Choufani S, Gibson WT, Turinsky AL, Chung BHY, Wang T, Garg K, Vitriolo A, Cohen ASA, Cyrus S, Goodman S, Chater-Diehl E, Brzezinski J, Brudno M, Ming LH, White SM, Lynch SA, Clericuzio C, Temple IK, Flinter F, McConnell V, Cushing T, Bird LM, Splitt M, Kerr B, Scherer SW, Machado J, Imagawa E, Okamoto N, Matsumoto N, Testa G, Iascone M, Tenconi R, Caluseriu O, Mendoza-Londono R, Chitayat D, Cytrynbaum C, Tatton-Brown K, Weksberg R. DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.

    分子遺伝病研究部門