研究業績

原著論文

2020年

  1. Yigit G, Saida K, DeMarzo D, Miyake N, Fujita A, Yang Tan T, White SM, Wadley A, Toliat MR, Motameny S, Franitza M, Stutterd CA, Chong PF, Kira R, Sengoku T, Ogata K, Guillen Sacoto MJ, Fresen C, Beck BB, Nürnberg P, Dieterich C, Wollnik B, Matsumoto N, Altmüller J: The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype. Hum Mutat, 41(3): 591-599, 2020.
  2. Endo W, Ikemoto S, Togashi N, Miyabayashi T, Nakajima E, Hamano SI, Shibuya M, Sato R, Takezawa Y, Okubo Y, Inui T, Kato M, Sengoku T, Ogata K, Hamanaka K, Mizuguchi T, Miyatake S, Nakashima M, Matsumoto N, Haginoya K: Phenotype-genotype correlations in patients with GNB1 gene variants, including the first three reported Japanese patients to exhibit spastic diplegia, dyskinetic quadriplegia, and infantile spasms. Brain Dev, 42(2): 199-204, 2020.
  3. Miyake N, Takahashi H, Nakamura K, Isidor B, Hiraki Y, Koshimizu E, Shiina M, Sasaki K, Suzuki H, Abe R, Kimura Y, Akiyama T, Tomizawa SI, Hirose T, Hamanaka K, Miyatake S, Mitsuhashi S, Mizuguchi T, Takata A, Obo K, Kato M, Ogata K, Matsumoto N: Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities. Am J Hum Genet, 106(1): 13-25, 2020.

2019年

  1. Hashiguchi S, Doi H, Kunii M, Nakamura Y, Shimuta M, Suzuki E, Koyano S, Okubo M, Kishida H, Shiina M, Ogata K, Hirashima F, Inoue Y, Kubota S, Hayashi N, Nakamura H, Takahashi K, Katsumoto A, Tada M, Tanaka K, Sasaoka T, Miyatake S, Miyake N, Saitsu H, Sato N, Ozaki K, Ohta K, Yokota T, Mizusawa H, Mitsui J, Ishiura H, Yoshimura J, Morishita S, Tsuji S, Takeuchi H, Ishikawa K, Matsumoto N, Ishikawa T, Tanaka F: Ataxic phenotype with altered CaV3.1 channel property in a mouse model for spinocerebellar ataxia 42. Neurobiology of disease, 130: 104516, 2019.
  2. Nakashima M, Ogata K, Saitsu H, Matsumoto N: Reply to "Reduced CYFIP2 Stability by Arg87 Variants Causing Human Neurological Disorders". Ann Neurol, 86: 805-806, 2019.
  3. Iwama K, Mizuguchi T, Takeshita E, Nakagawa E, Okazaki T, Nomura Y, Iijima Y, Kajiura I, Sugai K, Saito T, Sasaki M, Yuge K, Saikusa T, Okamoto N, Takahashi S, Amamoto M, Tomita I, Kumada S, Anzai Y, Hoshino K, Fattal-Valevski A, Shiroma N, Ohfu M, Moroto M, Tanda K, Nakagawa T, Sakakibara T, Nabatame S, Matsuo M, Yamamoto A, Yukishita S, Inoue K, Waga C, Nakamura Y, Watanabe S, Ohba C, Sengoku T, Fujita A, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Ogata K, Ito S, Saitsu H, Matsuishi T, Goto YI, Matsumoto N: Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing. Journal of medical genetics, 56: 396-407, 2019.
  4. Miyado M, Fukami M, Takada S, Terao M, Nakabayashi K, Hata K, Matsubara Y, Tanaka Y, Sasaki G, Nagasaki K, Shiina M, Ogata K, Masunaga Y, Saitsu H, Ogata T: Germline-Derived Gain-of-Function Variants of Gsα-Coding GNAS Gene Identified in Nephrogenic Syndrome of Inappropriate Antidiuresis. Journal of medical genetics, 56: 396-407 2019.

2018年

  1. Tsuchida N, Hamada K, Shiina M, Kato M, Kobayashi Y, Tohyama J, Kimura K, Hoshino K, Ganesan V, Teik KW, Nakashima M, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Saitsu H, Ogata K, Miyatake S, Matsumoto N: GRIN2D variants in three cases of developmental and epileptic encephalopathy. Clinical Genetics, 94: 538-547, 2018.
  2. Miyatake S, Schneeberger S, Koyama N, Yokochi K, Ohmura K, Shiina M, Mori H, Koshimizu E, Imagawa E, Uchiyama Y, Mitsuhashi S, Frith MC, Fujita A, Satoh M, Taguri M, Tomono Y, Takahashi K, Doi H, Takeuchi H, Nakashima M, Mizuguchi T, Takata A, Miyake N, Saitsu H, Tanaka F, Ogata K, Hennet T, Matsumoto N: Biallelic COLGALT1 variants are associated with cerebral small vessel disease. Ann Neurol, 84: 843-853, 2018.
  3. Fujita A, Tsukaguchi H, Koshimizu E, Nakazato H, Itoh K, Kuraoka S, Komohara Y, Shiina M, Nakamura S, Kitajima M, Tsurusaki Y, Miyatake S, Ogata K, Iijima K, Matsumoto N, Miyake N: Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome. Ann Neurol, 84: 814-828, 2018.
  4. Uchiyama Y, Yanagisawa K, Kunishima S, Shiina M, Ogawa Y, Nakashima M, Hirato J, Imagawa E, Fujita A, Hamanaka K, Miyatake S, Mitsuhashi S, Takata A, Miyake N, Ogata K, Handa H, Matsumoto N, Mizuguchi T: A novel CYCS mutation in the α-helix of the CYCS C-terminal domain causes non-syndromic thrombocytopenia. Clinical Genetics, 94: 548-553, 2018.
  5. Uchiyama Y, Ogawa Y, Kunishima S, Shiina M, Nakashima M, Yanagisawa K, Yokohama A, Imagawa E, Miyatake S, Mizuguchi T, Takata A, Miyake N, Ogata K, Handa H, Matsumoto N: A novel GFI1B mutation at the first zinc finger domain causes congenital macrothrombocytopeni. Br J Haematol, 181: 843-847, 2018.
  6. Miyake N, Ozasa S, Mabe H, Kimura S, Shiina M, Imagawa E, Miyatake S, Nakashima M, Mizuguchi T, Takata A, Ogata K, Matsumoto N: A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs-Hoeijmakers syndrome. Clinical Genetics, 93: 929-930, 2018.
  7. Fassio A, Esposito A, Kato M, Saitsu H, Mei D, Marini C, Conti V, Nakashima M, Okamoto N, Olmez Turker A, Albuz B, Semerci Gündüz CN, Yanagihara K, Belmonte E, Maragliano L, Ramsey K, Balak C, Siniard A, Narayanan V, C4RCD Research Group, Ohba C, Shiina M, Ogata K, Matsumoto N, Benfenati F, Guerrini R: De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy. Brain : a journal of neurology 141: 1703-1718, 2018.
  8. Mizuguchi T, Nakashima M, Kato M, Okamoto N, Kurahashi H, Ekhilevitch N, Shiina M, Nishimura G, Shibata T, Matsuo M, Ikeda T, Ogata K, Tsuchida N, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Hata K, Kaname T, Matsubara Y, Saitsu H, Matsumoto N: Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders. Hum Mol Genet, 27: 1421-1433, 2018.
  9. Suzuki T, Behnam M, Ronasian F, Salehi M, Shiina M, Koshimizu E, Fujita A, Sekiguchi F, Miyatake S, Mizuguchi T, Nakashima M, Ogata K, Takeda S, Matsumoto N, Miyake N: A homozygous NOP14 variant is likely to cause recurrent pregnancy loss. J Hum Genet, 63: 425-430, 2018.
  10. Nakashima M, Kato M, Aoto K, Shiina M, Belal H, Mukaida S, Kumada S, Sato A, Zerem A, Lerman-Sagie T, Lev D, Leong HY, Tsurusaki Y, Mizuguchi T, Miyatake S, Miyake N, Ogata K, Saitsu H, Matsumoto N: De novo Hotspot Variants in CYFIP2 Cause Early-Onset Epileptic Encephalopathy. Ann Neurol, 83: 794-806, 2018.
  11. Kasahara K, Shiina M, Higo J, Ogata K, Nakamura H: Phosphorylation of an intrinsically disordered region of Ets1 shifts a multi-modal yields a specific interaction ensemble to among many multi-modal interactions an auto-inhibitory state. Nucleic Acids Research, 46: 2243-2251, 2018.
  12. Cho K, Yamada M, Agematsu K, Kanegane H, Miyake N, Ueki M, Akimoto T, Kobayashi N, Ikemoto S, Tanino M, Fujita A, Hayasaka I, Miyamoto S, Tanaka-Kubota M, Nakata K, Shiina M, Ogata K, Minakami H, Matsumoto N, Ariga T: Heterozygous Mutations in OAS1 Cause Infantile-Onset Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia. Am J Hum Genet, 102: 480-486, 2018.
  13. Akita T, Aoto K, Kato M, Shiina M, Mutoh H, Nakashima M, Kuki I, Okazaki S, Magara S, Shiihara T, Yokochi K, Aiba K, Tohyama J, Ohba C, Miyatake S, Miyake N, Ogata K, Fukuda A, Matsumoto N, Saitsu H: De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders. Ann Clin Transl Neurol, 5: 280-296, 2018.
  14. Iwama K, Iwata A, Shiina M, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Ogata K, Ito S, Mizuguchi T, Matsumoto N: A novel mutation in SLC1A3 causes episodic ataxia. J Hum Genet, 63: 207-211, 2018.
  15. Nishio K, Belle R, Katoh T, Kawamura A, Sengoku T, Hanada K, Ohsawa N, Shirouzu M, Yokoyama S, Suga H: Thioether Macrocyclic Peptides Selected against TET1 Compact Catalytic Domain Inhibit TET1 Catalytic Activity. Chembiochem, 19: 979-985, 2018.
  16. Sengoku T, Suzuki T, Dohmae N, Watanabe C, Honma T, Hikida Y, Yamaguchi Y, Takahashi H, Yokoyama S, Yanagisawa T: Structural basis of protein arginine rhamnosylation by glycosyltransferase EarP. Nat Chem Biol, 14: 368-374, 2018.

2017

  1. Miyake N, Inaba M, Mizuno S, Shiina M, Imagawa 1, Miyatake S, Nakashima M, Mizuguchi T, Takata A, Ogata K, Matsumoto N: A case of atypical Kabuki syndrome arising from a novel missense variant in HNRNPK. Clin Genet, 92: 554-555, 2017.
  2. Mizuguchi T, Nakashima M, Kato M, Yamada K, Okanishi T, Ekhilevitch N, Mandel H, Eran A, Toyono M, Sawaishi Y, Motoi H, Shiina M, Ogata K, Miyatake S, Miyake N, Saitsu H, Matsumoto N: PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder. J Hum Genet, 62: 525-529, 2017.
  3. Yamamoto T, Endo W, Ohnishi H, Kubota K, Kawamoto N, Inui T, Imamura A, Takanashi JI, Shiina M, Saitsu H, Ogata K, Matsumoto N, Haginoya K, Fukao T: The first report of Japanese patients with asparagine synthetase deficiency. Brain Dev, 39: 236-242, 2017.
  4. Lardelli RM, Schaffer AE, Eggens VR, Zaki MS, Grainger S, Sathe S, Van Nostrand EL, Schlachetzki Z, Rosti B, Akizu N, Scott E, Silhavy JL, Heckman LD, Rosti RO, Dikoglu E, Gregor A, Guemez-Gamboa A, Musaev D, Mande R, Widjaja A, Shaw TL, Markmiller S, Marin-Valencia I, Davies JH, de Meirleir L, Kayserili H, Altunoglu U, Freckmann ML11, Warwick L, Chitayat D, Blaser S, Çağlayan AO, Bilguvar K, Per H, Fagerberg C, Christesen HT, Kibaek M, Aldinger KA, Manchester D, Matsumoto N, Muramatsu K, Saitsu H, Shiina M, Ogata K, Foulds N, Dobyns WB, Chi NC, Traver D, Spaccini L, Bova SM, Gabriel SB, Gunel M, Valente EM, Nassogne MC, Bennett EJ1, Yeo GW, Baas F, Lykke-Andersen J, Gleeson JG: Biallelic Mutations in the 3’ Exonuclease TOE1 Cause Pontocerebellar Hypoplasia and Uncover a Role in snRNA Processing. Nat Genet, 49: 457-464, 2017.
  5. Kasahara K, Shiina M, Fukuda I, Ogata K, Nakamura H: Molecular mechanisms of cooperative binding of transcription factors Runx1-CBFβ-Ets1 on the TCRα gene enhancer. PLoS One, 12: e0172654, 2017.
  6. Miyatake S, Mitsuhashi S, Hayashi YK, Purevjav E, Nishikawa A, Koshimizu E, Suzuki M, Yatabe K, Tanaka Y, Ogata K, Kuru S, Shiina M, Tsurusaki Y, Nakashima M, Mizuguchi T, Miyake N, Saitsu H, Ogata K, Kawai M, Towbin J, Nonaka I, Nishino I, Matsumoto N: Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy. Am J Hum Genet, 100: 169-178, 2017.

2016

  1. Miyake N, Fukai R, Ohba C, Chihara T, Miura M, Shimizu H, Kakita A, Imagawa E, Shiina M, Ogata K, Okuno-Yuguchi J, Fueki N, Ogiso Y, Suzumura H, Watabe Y, Imataka G, Leong HY, Fattal-Valevski A, Kramer U, Miyatake S, Kato M, Okamoto N, Sato Y, Mitsuhashi S, Nishino I, Kaneko N, Nishiyama A, Tamura T, Mizuguchi T, Nakashima M, Tanaka F, Saitsu H, Matsumoto N: Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy. Am J Hum Genet, 99: 950-961, 2016.
  2. Čulić V, Miyake N, Janković S, Petrović D, Šimunović M, Đapić T, Shiina M, Ogata K, Matsumoto N: Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation. Hum Genome Var, 3: 16035, 2016.
  3. Fukai R, Saitsu H, Okamoto N, Sakai Y, Fattal-Valevski A, Shiina M, Kitai Y, Torio M, Kojima-Ishii K, Ihara K, Chernuha V, Nakashima M, Miyatake S, Tanaka F, Miyake N, Matsumoto N: De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia. J Hum Genet, 61: 451-455, 2016.
  4. Miyamoto T, Bando Y, Koh E, Tsujimura A, Miyagawa Y, Iijima M, Namiki M, Shiina M, Ogata K, Matsumoto N, Sengoku K: A PLK4 mutation causing azoospermia in a man with Sertoli cell-only syndrome. Andrology, 4: 75-81, 2016.
  5. Nakashima M, Kouga T, Lourenco CM, Shiina M, Goto T, Tsurusak Yi, Miyatake S, Miyake N, Saitsu H, Ogata K, Osaka H, Matsumoto N: De novo DNM1 mutations in two cases of epileptic encephalopathy. Epilepsia, 57: e18-e23, 2016.
  6. Saitsu H, Fukai R, Ben-Zeev B, Sakai Y, Mimaki M, Okamoto N, Suzuki Y, Monden Y, Saito H, Tziperman B, Torio M, Akamine S, Takahashi N, Osaka H, Yamagata T, Nakamura K, Tsurusaki Y, Nakashima M, Miyake N, Shiina M, Ogata K, Matsumoto N: Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay. Eur J Hum Genet, 24: 129-134, 2016.

2015

  1. Tsurusaki Y, Tanaka R, Shimada S, Shimojima K, Shiina M, Nakashima M, Saitsu H, Miyake N, Ogata K, Yamamoto T, Matsumoto N: Novel compound heterozygous LIAS mutations cause glycine encephalopathy. J Hum Genet, 60: 631-635, 2015.
  2. Nakashima M, Saitsu H, Takei N, Tohyama J, Kato M, Kitaura H, Shiina M, Shirozu H, Masuda H, Watanabe K, Ohba C, Tsurusaki Y, Miyake N, Zheng Y, Sato T, Takebayashi H, Ogata K, Kameyama S, Kakita A, Matsumoto N: Somatic mutations in the MTOR gene cause focal cortical dysplasia type IIb. Ann Neurol, 78: 375-386, 2015.
  3. Ohba C, Shiina M, Tohyama J, Haginoya K, Lerman-Sagie T, Okamoto N, Blumkin L, Lev D, Mukaida S, Nozaki F, Uematsu M, Onuma A, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Tanaka F, Kato M, Ogata K, Saitsu H, Matsumoto N: GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders. Epilepsia, 56: 841-848, 2015.
  4. Shiina M, Hamada K, Inoue-Bungo T, Shimamura M, Uchiyama A, Baba S, Sato K, Yamamoto M, Ogata K: A novel allosteric mechanism on protein-DNA interactions underlying the phosphorylation-dependent regulation of Ets1 target gene expressions. J Mol Biol, 427: 1655-1669, 2015.
  5. Miyake N, Tsukaguchi H, Koshimizu E, Shono A, Matsunaga S, Shiina M, Mimura Y, Imamura S, Hirose T, Okudela K, Nozu K, Akioka Y, Hattori M, Yoshikawa N, Kitamura A, Cheong HI, Kagami S, Yamashita M, Fujita A, Miyatake S, Tsurusaki Y, Nakashima M, Saitsu H, Ohashi K, Imamoto N, Ryo A, Ogata K, Iijima K, Matsumoto N: Biallelic mutations in nuclear pore complex subunit NUP107 cause early-childhood-onset steroid-resistant nephrotic syndrome. Am J Hum Genet, 97: 555-566, 2015.
  6. Imai N, Miyake N, Saito Y, Kobayashi E, Ikawa M, Manaka S, Shiina M, Ogata K, Matsumoto N: Short-lasting unilateral neuralgiform headache attacks with ispilateral facial flushing is a new variant of paroxysmal extreme pain disorder. J Headache Pain, 16: 519, 2015.
  7. Ogura Y, Miyake N, Kou I, Iida A, Nakajima M, Takeda K, Fujibayashi S, Shiina M, Okada E, Toyama Y, Iwanami A, Ishii K, Ogata K, Asahara H, Matsumoto N, Nakamura M, Matsumoto M, Ikegawa S: Identification of HOXD4 Mutations in Spinal Extradural Arachnoid Cyst. PLoS One, 10: e0142126, 2015.
  8. Yanagisawa T, Ishii R, Hikida Y, Fukunaga R, Sengoku T, Sekine S, Yokoyama S: A SelB/EF-Tu/aIF2γ-like protein from Methanosarcina mazei in the GTP-bound form binds cysteinyl-tRNA(Cys.). J Struct Funct Genomics, 16: 25-41, 2015.

2014

  1. Shiina M, Hamada K, Inoue-Bungo T, Shimamura M, Baba S, Sato K, Ogata K: Crystallization of the Ets1-Runx1-CBFβ-DNA complex formed on the TCRα gene enhancer. Acta Crystallogr F Struct Biol Commun, 70: 1380-1384, 2014.
  2. Miyatake S, Koshimizu E, Hayashi YK, Miya K, Shiina M, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Ogata K, Nishino I, Matsumoto N: Deep sequencing detects very-low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy. Neuromuscul Disord, 24: 642-647, 2014.
  3. Tsurusaki Y, Koshimizu E, Ohashi H, Phadke S, Kou I, Shiina M, Suzuki T, Okamoto N, Imamura S, Yamashita M, Watanabe S, Yoshiura K, Kodera H, Miyatake S, Nakashima M, Saitsu H, Ogata K, Ikegawa S, Miyake N, Matsumoto N: De novo SOX11 mutations cause Coffin-Siris syndrome. Nat Commun, 5: 4011, 2014.
  4. Miyatake S, Osaka H, Shiina M, Sasaki M, Takanashi J, Haginoya K, Wada T, Morimoto M, Ando N, Ikuta Y, Nakashima M, Tsurusaki Y, Miyake N, Ogata K, Matsumoto N, Saitsu H: Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephlopathies. Neurology, 82: 2230-2237, 2014.
  5. Imagawa E, Osaka H, Yamashita A, Shiina M, Takahashi E, Sugie H, Nakashima M, Tsurusaki Y, Saitsu H, Ogata K, Matsumoto N, Miyake N: A hemizygous GYG2 mutation and Leigh syndrome: a possible link?. Hum Genet, 133: 225-234, 2014.
  6. Doi H, Ushiyama M, Baba T, Tani K, Shiina M, Ogata K, Miyatake S, Fukuda-Yuzawa Y, Tsuji S, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Ikeda S, Tanaka F, Matsumoto N, Yoshida K: Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation. Sci Rep, 4: 7132, 2014.

2013

  1. Gupta V, Ravenscroft G, Shaheen R, Todd EJ, Swanson L, Shiina M, Ogata K, Hsu C, Clarke N, Darras B, Farrar M, Hashem A, Manton N, Muntoni F, North K, Sandaradura S, Nishino I, Hayashi YK,Sewry C, Thompson E, Yau K, Brownstein C, Yu T, Allcock R, Davis M, Wallgren-Pettersson C, Matsumoto N, Alkuraya F, Laing N, Beggs N: Identification of KLHL41 mutations implicates BTB-Kelch-mediated ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathy. Am J Hum Genet, 93: 1108-1117, 2013.
  2. Ogura Y, Yabuki S, Iida A, Kou I, Nakajima M, Kano H, Shiina M, Kikuchi S, Toyama Y, Ogata K, Nakamura M, Matsumoto M, Ikegawa S: FOXC2 mutations in familial and sporadic spinal extradural arachnoid cyst. PLoS One, 8: e80548, 2013.
  3. Nakamura K, Kodera H, Akita T, Shiina M, Kato M, Hoshino H, Terashima H, Osaka H, Nakamura S, Tohyama J, Kumada T, Furukawa T, Iwata S, Shiihara T, Kubota M, Miyatake S, Koshimizu E, Nishiyama K, Nakashima M, Tsurusaki Y, Miyake N, Hayasaka K, Ogata K, Fukuda A, Matsumoto N, Saitsu H: De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy. Am J Hum Genet, 93: 496-505, 2013.
  4. Ravenscroft G, Miyatake S, Lehtokari VL, Todd EJ, Vornanen P, Yau KS, Hayashi YK, Miyake N, Tsurusaki Y, Doi H, Saitsu H, Osaka H, Yamashita S, Ohya T, Sakamoto Y, Koshimizu E, Imamura S, Yamashita M, Ogata K, Shiina M, Bryson-Richardson RJ, Vaz R, Ceyhan O, Brownstein CA, Swanson LC, Monnot S, Romero NB, Amthor H, Kresoje N, Sivadorai P, Kiraly-Borri C, Haliloglu G, Talim B, Orhan D, Kale G, Charles AK, Fabian VA, Davis MR, Lammens M, Sewry CA, Manzur A, Muntoni F, Clarke NF, North KN, Bertini E, Nevo Y, Willichowski E, Silberg IE, Topaloglu H, Beggs AH, Allcock RJ, Nishino I, Wallgren-Pettersson C, Matsumoto N, Laing NG: Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. Am J Hum Genet, 93: 6-18, 2013.
  5. Iida A, Okamoto N, Miyake N, Nishimura G, Minami S, Sugimoto T, Nakashima M, Tsurusaki Y, Saitsu H, Shiina M, Ogata K, Watanabe S, Ohashi H, Matsumoto N, Ikegawa S: Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia. J Hum Genet, 58: 391-394, 2013.
  6. Miyake N, Yano S, Sakai C, Hatakeyama H, Matsushima Y, Shiina M, Watanabe Y, Bartley J, Abdenur JE, Wang RY, Chang R, Tsurusaki Y, Doi H, Nakashima M, Saitsu H, Ogata K, Goto Y, Matsumoto N: Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation. Hum Mutat, 34: 446-452, 2013.
  7. Miyake N, Mizuno S, Okamoto N, Ohashi H, Shiina M, Ogata K, Tsurusaki Y, Nakashima M, Saitsu H, Niikawa N, Matsumoto N: KDM6A point mutations cause Kabuki syndrome. Hum Mutat, 34: 108-110, 2013.
  8. Tang Z, Chen WY, Shimada M, Nguyen UT, Kim J, Sun XJ, Sengoku T, McGinty RK, Fernandez JP, Muir TW, Roeder RG: SET1 and p300 act synergistically, through coupled histone modifications, in transcriptional activation by p53. Cell, 154: 297-310, 2013.

2012

  1. Yoneda Y, Saitsu H, Touyama M, Makita Y, Miyamoto A, Hamada K, Kurotaki N, Tomita H, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Ogata K, Naritomi K, Matsumoto N: Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features. J Hum Genet, 57: 207-211, 2012.
  2. Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, Kaname T, Naritomi K, Kawame H, Wakui K, Fukushima Y, Homma T, Kato M, Hiraki Y, Yamagata T, Yano S, Mizuno S, Sakazume S, Ishii T, Nagai T, Shiina M, Ogata K, Ohta T, Niikawa N, Miyatake S, Okada I, Mizuguchi T, Doi H, Saitsu H, Miyake N, Matsumoto N: Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. Nat Genet, 44: 376-378, 2012.
  3. Kitamura A, Nishimoto M, Sengoku T, Shibata R, Jager G, Bjork GR, Grosjean H, Yokoyama S, Bessho Y: Characterization and structure of the Aquifex aeolicus protein DUF752: a bacterial tRNA-methyltransferase (MnmC2) functioning without the usually fused oxidase domain (MnmC1). J Biol Chem, 287: 43950-43960, 2012.
  4. Shpargel KB, Sengoku T, Yokoyama S, Magnuson T: UTX and UTY demonstrate histone demethylase-independent function in mouse embryonic development. PLoS Genet, 8: e1002964, 2012.

2011

  1. Saitsu H, Osaka H, Sasaki M, Takanashi JI, Hamada K, Yamashita A, Shibayama H, Shiina M, Kondo Y, Nishiyama K, Tsurusaki Y, Miyake N, Doi H, Ogata K, Inoue K, Matsumoto N: Mutations in POLR3A and POLR3B Encoding RNA Polymerase III Subunits Cause an Autosomal-Recessive Hypomyelinating Leukoencephalopathy. Am J Hum Genet, 89: 644-651, 2011.
  2. Doi H, Yoshida K, Yasuda T, Fukuda M, Fukuda Y, Morita H, Ikeda S, Kato R, Tsurusaki Y, Miyake N, Saitsu H, Sakai H, Miyatake S, Shiina M, Nukina N, Koyano S, Tsuji S, Kuroiwa Y, Matsumoto N: Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation. Am J Hum Genet, 89: 320-327, 2011.
  3. Jounai N, Kobiyama K, Shiina M, Ogata K, Ishii KJ, Takeshita F: NLRP4 negatively regulates autophagic processes through an association with Beclin1. J Immunol, 186: 1646-1655, 2011.
  4. Sengoku T, Yokoyama S: Structural basis for histone H3 Lys 27 demethylation by UTX/KDM6A. Genes Dev, 25: 2266-2277, 2011.
  5. Awai T, Ochi A, Ihsanawati, Sengoku T, Hirata A, Bessho Y, Yokoyama S, Hori H: Substrate tRNA recognition mechanism of a multisite-specific tRNA methyltransferase, Aquifex aeolicus Trm1, based on the X-ray crystal structure. J Biol Chem, 286: 35236-35246, 2011.
  6. Kitamura A, Sengoku T, Nishimoto M, Yokoyama S, Bessho Y: Crystal structure of the bifunctional tRNA modification enzyme MnmC from Escherichia coli. Protein Sci, 20: 1105-1113, 2011.

2001~2010

  1. Miyake N, Kosho T, Mizumoto S, Furuichi T, Hatamochi A, Nagashima Y, Arai E, Takahashi K, Kawamura R, Wakui K, Takahashi J, Kato H, Yasui H, Ishida T, Ohashi H, Nishimura G, Shiina M, Saitsu H, Tsurusaki Y, Doi H, Fukushima Y, Ikegawa S, Yamada S, Sugahara K, Matsumoto N: Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome. Hum Mutat, 31: 966-974, 2010.
  2. Babayeva ND, Wilder PJ, Shiina M, Mino K, Desler M, Ogata K, Rizzino A, Tahirov TH: Structural basis of Ets1 cooperative binding to palindromic sequences on stromelysin-1 promoter DNA. Cell Cycle, 9: 3054-3062, 2010.
  3. Saitsu H, Tohyama J, Kumada T, Egawa K, Hamada K, Okada I, Mizuguchi T, Osaka H, Miyata R, Furukawa T, Haginoya K, Hoshino H, Goto T, Hachiya Y, Yamagata T, Saitoh S, Nagai T, Nishiyama K, Nishimura A, Miyake N, Komada M, Hayashi K, Hirai S, Ogata K, Kato M, Fukuda A, Matsumoto N: Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay. Am J Hum Genet, 86: 881-891, 2010.
  4. Theeraladanon C, Takahashi N, Shiina M, Hamada K, Takada Y, Endo H, Tateishi U, Oka T, Ogata K, Inoue T: Rational approach to the synthesis, evaluation and 68Ga labeling of a novel 4-anilinoquinoline EGFR inhibitor as a new imaging agent that selectively targets the EGFR tyrosine kinase. Cancer Biother Radiopharm, 25: 479-485, 2010.
  5. Yamashita K, Suzuki A, Satoh Y, Ide M, Amano Y, Masuda-Hirata M, Hayashi YK, Hamada K, Ogata K, Ohno S: The 8th and 9th tandem spectrin-like repeats of utrophin cooperatively form a functional unit to interact with polarity-regulating kinase PAR-1b. Biochem Biophys Res Commun, 391: 812-817, 2009.
  6. Saitsu H, Kato M, Mizuguchi T, Hamada K, Osaka H, Tohyama J, Uruno K, Kumada S, Nishiyama K, Nishimura A, Okada I, Yoshimura Y, Hirai S, Kumada T, Hayasaka K, Fukuda A, Ogata K, Matsumoto N: De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. Nat Genet, 40: 782-788, 2008.
  7. Mimasu S, Sengoku T, Fukuzawa S, Umehara T, Yokoyama S: Crystal structure of histone demethylase LSD1 and tranylcypromine at 2.25 A. Biochem Biophys Res Commun, 366: 15-22, 2008.
  8. Sekine K, Chen YR, Kojima N, Ogata K, Fukamizu A, Miyajima A: Foxo1 links insulin signaling to C/EBPα and regulates gluconeogenesis during liver development. EMBO J, 26: 3607-3615, 2007.
  9. Morita T, Yamashita A, Kashima I, Ogata K, Ishiura S, Ohno S: Distant N-terminal and C-terminal domains are required for intrinsic kinase activity of SMG-1, a critical component of nonsense-mediated mRNA decay. J Biol Chem, 282: 7799-7808, 2007.
  10. Sasaki HM, Sekine S, Sengoku T, Fukunaga R, Hattori M, Utsunomiya Y, Kuroishi C, Kuramitsu S, Shirouzu M, Yokoyama S: Structural and mutational studies of the amino acid-editing domain from archaeal/eukaryal phenylalanyl-tRNA synthetase. Proc Natl Acad Sci USA, 103: 14744-14749, 2006.
  11. Sengoku T, Nureki O, Nakamura A, Kobayashi S, Yokoyama S: Structural basis for RNA unwinding by the DEAD-box protein Drosophila Vasa. Cell, 125: 287-300, 2006.
  12. Watanabe N, Arai H, Iwasaki J, Shiina M, Ogata K, Hunter T, Osada H: Cyclin-dependent kinase (CDK) phosphorylation destabilizes somatic Wee1 via multiple pathways. Proc Natl Acad Sci USA, 102: 11663-11668, 2005.
  13. Kuratani M, Ishii R, Bessho Y, Fukunaga R, Sengoku T, Shirouzu M, Sekine S, Yokoyama S: Crystal structure of tRNA adenosine deaminase (TadA) from Aquifex aeolicus. J Biol Chem, 280: 16002-16008, 2005.
  14. Sakurai S, Kitano K, Yamaguchi H, Hamada K, Okada K, Fukuda K, Uchida M, Ohtsuka E, Morioka H, Hakoshima T: Structural basis for recruitment of human flap endonuclease 1 to PCNA. EMBO J, 24: 683-693, 2005.
  15. Hamada K, Kato M, Shimizu T, Ihara K, Mizuno T, Hakoshima T: Crystal structure of the protein histidine phosphatase SixA in the multistep His-Asp phosphorelay. Genes Cells, 10: 1-11, 2005.
  16. Hisanaga Y, Ago H, Nakagawa N, Hamada K, Ida K, Yamamoto M, Hori T, Arii Y, Sugahara M, Kuramitsu S, Yokoyama S, Miyano M: Structural basis of the substrate-specific two-step catalysis of long chain fatty acyl-CoA synthetase dimer. J Biol Chem, 279: 31717-31726, 2004.
  17. Sengoku T, Nureki O, Dohmae N, Nakamura A, Yokoyama S: Crystallization and preliminary X-ray analysis of the helicase domains of Vasa complexed with RNA and an ATP analogue. Acta Crystallogr D Biol Crystallogr, 60: 320-322, 2004.
  18. Kise Y, Lee SW, Park SG, Fukai S, Sengoku T, Ishii R, Yokoyama S, Kim S, Nureki O: A short peptide insertion crucial for angiostatic activity of human tryptophanyl-tRNA synthetase. Nat Struct Mol Biol, 11: 149-156, 2004.
  19. Hamada K, Ago H, Sugahara M, Nodake Y, Kuramitsu S, Miyano M: Oxyanion hole-stabilized stereospecific isomerization in ribose-5-phosphate isomerase (Rpi). J Biol Chem, 278: 49183-49190, 2003.
  20. Sakurai S, Kitano K, Okada K, Hamada K, Morioka H, Hakoshima T: Preparation and crystallization of human flap endonuclease FEN-1 in complex with proliferating-cell nuclear antigen, PCNA. Acta Crystallogr D Biol Crystallogr, 59: 933-935, 2003.
  21. Ogata K, Sato K, Tahirov TH: Eukaryotic transcriptional regulatory complexes: cooperativity from near and afar. Curr Opin Struct Biol, 13: 40-48, 2003.
  22. Hamada K, Shimizu T, Yonemura S, Tsukita S, Tsukita S, Hakoshima T: Structural basis of adhesion-molecule recognition by ERM proteins revealed by the crystal structure of the radixin-ICAM-2 complex. EMBO J, 22: 502-514, 2003.
  23. Shimizu T, Seto A, Maita N, Hamada K, Tsukita S, Tsukita S, Hakoshima T: Structural basis for neurofibromatosis type 2. Crystal structure of the merlin FERM domain. J Biol Chem, 277: 10332-10336, 2002.
  24. Tahirov TH, Sato K, Ichikawa-Iwata E, Sasaki M, Inoue-Bungo T, Shiina M, Kimura K, Takata S, Fujikawa A, Morii H, Kumasaka T, Yamamoto M, Ishii S, Ogata K: Mechanism of c-Myb-C/EBPβ cooperation from separated sites on a promoter. Cell, 108: 57-70, 2002.
  25. Tahirov TH, Sasaki M, Inoue T, Fujikawa A, Sato K, Kumasaka T, Yamamoto M, Ogata K: Crystals of ternary protein-DNA complexes composed of DNA binding domains of c-Myb or v-Myb, C/EBPα or C/EBPβ, and tom-1A promoter fragment. Acta Crystallogr D Biol Crystallogr, 57: 1655-1658, 2001.
  26. Hamada K, Shimizu T, Matsui T, Tsukita S, Tsukita S, Hakoshima T: Crystallographic characterization of the radixin FERM domain bound to the cytoplasmic tail of the adhesion protein ICAM-2. Acta Crystallogr D Biol Crystallogr, 57: 891-892, 2001.
  27. Hamada K, Seto A, Shimizu T, Matsui T, Takai Y, Tsukita S, Tsukita S, Hakoshima T: Crystallization and preliminary crystallographic studies of RhoGDI in complex with the radixin FERM domain. Acta Crystallogr D Biol Crystallogr, 57: 889-890, 2001.
  28. Lassalle MW, Yamada H, Morii H, Ogata K, Sarai A, Akasaka K: Filling a cavity dramatically increases pressure stability of the c-Myb R2 subdomain. Proteins, 45: 96-101, 2001.
  29. Tahirov TH, Inoue T, Sasaki M, Shiina M, Kimura K, Sato K, Kumasaka T, Yamamoto M, Kamiya N, Ogata K: Crystallization and preliminary X-ray analyses of quaternary, ternary and binary protein-DNA complexes with involvement of AML1/Runx-1/CBFα Runt domain, CBFβ and the C/EBPβbZip region. Acta Crystallogr D Biol Crystallogr, 57: 850-853, 2001.
  30. Tahirov TH, Inoue T, Sasaki M, Fujikawa A, Kimura K, Sato K, Adachi S, Kamiya N, Ogata K: Crystallization and preliminary X-ray analysis of the C/EBPβ C-terminal region in complex with DNA. Acta Crystallogr D Biol Crystallogr, 57: 854-856, 2001.
  31. Tahirov TH, Inoue T, Sasaki M, Kimura K, Morii H, Fujikawa A, Shiina M, Sato K, Kumasaka T, Yamamoto M, Ishii S, Ogata K: Structural analyses of DNA recognition by the AML1/Runx-1 Runt domain and its allosteric control by CBFβ. Cell, 104: 755-767, 2001.

総説

  1. 椎名政昭,緒方一博: 見てわかる構造生命科学ー生命科学研究へのタンパク質構造の利用ー 中村春木編. 化学同人, 133-160, 2014.
  2. 緒方一博、浜田恵輔:転写制御因子の分子構造と作用機構.転写制御とエピジェネティクス―ゲノムデコードに向けて― 南山堂, 116-129, 2008.
  3. 緒方一博: 実験医学増刊号「転写因子による生命現象解明の最前線」分子構造を基盤とした転写制御因子の活性制御機構. 羊土社, 25(10): 1469-1476, 2007.
  4. 椎名政昭,浜田恵輔、緒方一博:分子生物学実験シリーズ「図・写真で観るタンパク構造・機能解析実験実践ガイド」タンパク質の立体構造解析を行うために分子構造解析のためのタンパク質試料調整法.メディカル ドゥ, 18-32, 2005.
  5. 緒方一博: 特集 転写制御と疾患 タンパク質の分子構造異常と癌化.Molecular Medicine, 42: 64-75, 2005.  
  6. Ogata K, Tahirov TH, Ishii S: c-Myb DNA-binding domain: from molecular structure to functions “Myb Transcription Factors: Their Role in Growth, Differentiation and Disease”, ed. by J. Frampton. Kluwer Academic Publishers B.V., 223-238, 2004.
  7. 緒方一博: 特集 ゲノムからプロテオームへヒトプロテオミクスの目指すもの ポストゲノム時代の生化学,構造生物学生体分子の機能発現機構の解明を目指して生化学, 76: 1305-1319, 2004
  8. 緒方一博: プロモーターDNA上での転写制御因子会合体の形成と転写調節の分子機構.日本結晶学会誌, 45: 19-25, 2003
  9. 緒方一博: 構造解析のための試料調製(総論) タンパク質-DNA複合体を中心として遺伝子医学, 6: 86-95 , 2002.
  10. 緒方一博: 分子構造から見たRunxタンパク質によるDNA認識とその制御.細胞工学, 21: 1216-1219, 2002
  11. 緒方一博, Tahirov TH 転写因子Runx-1/AML1CBFβによるアロステリック制御.細胞工学, 20: 488-489, 2001