大量並行シーケンスによるゲノムアッセイ

• Project Area: Integral understanding of the mechanism of transcription cycle through quantitative, high-resolution approaches
• Project/Area Number: 24118007
• Research Category: Grant-in-Aid for Scientific Research on Innovative Areas (Research in a proposed research area)
• Research Institution: Yokohama City University
• Principal Investigator: 松本 直通 横浜市立大学, 医学研究科, 教授 (80325638)
• Co-Investigator(Kenkyū-buntansha): 三宅 紀子 横浜市立大学, 医学部, 准教授 (40523494)
• Project Fiscal Year: 2012-06-28 – 2017-03-31
• Project Status: Granted(Fiscal Year 2016)
• Budget Amount: ¥106,080,000 (Direct Cost : ¥81,600,000、Indirect Cost : ¥24,480,000); Fiscal Year 2016 : ¥20,150,000 (Direct Cost : ¥15,500,000、Indirect Cost : ¥4,650,000); Fiscal Year 2015 : ¥20,150,000 (Direct Cost : ¥15,500,000、Indirect Cost : ¥4,650,000); Fiscal Year 2014 : ¥20,280,000 (Direct Cost : ¥15,600,000、Indirect Cost : ¥4,680,000); Fiscal Year 2013 : ¥20,150,000 (Direct Cost : ¥15,500,000、Indirect Cost : ¥4,650,000); Fiscal Year 2012 : ¥25,350,000 (Direct Cost : ¥19,500,000、Indirect Cost : ¥5,850,000)
• Keywords: ゲノム / 発現制御 / 次世代シーケンス

Outline of Annual Research Achievements

次世代シーケンサー（NGS）を効率的に用いて転写サイクルの解明に資するゲノムアッセイを行うことを目的に研究を進めている。平成26年度は、導入したIon Protonの稼働率を向上させ班内連携を進めた。スタンダードタイプとデスクトットタイプのNGS特性に合わせた効率的な解析フローを確立させ解析を進めている。転写サイクル異常に関わる疾患として解明を進めているCoffin-Siris症候群はBAF複合体の5つのサブユニットをコードするいずれかの遺伝子の突然変異が原因であることを、本研究において突き止めたが、さらに解析を継続して、あらたな原因遺伝子であるSOX11の突然変異を2例で同定した。この変異は、HMGドメイン内に存在し、構造解析やin vitroの機能解析で明らかな病的効果を示した。さらにゼブラフィッシュを用いたsox11のノックダウン解析とレスキュー実験においてCoffin-Siris症候群に類似した小頭症、脳細胞のアポトーシス等が出現し、ヒトSOX11のmRNAで一定のレスキュー効果を見出した。SOX11はBAFの下流に位置する転写因子で脳プロげニター細胞の維持や分化と関連することが明らかにされている。

Current Status of Research Progress

Research has progressed on the whole more than it was originally planned.

Reason

平成26年度は、Coffin-Siris症候群に関するあたらな原因遺伝子のSOX11の同定に成功した。SOX11はBAF複合体の下流に位置する転写因子でこれら一連の遺伝子異常が、類似の臨床症状を呈していることが大変興味深い。またこれら一連の研究が、転写サイクル研究に資すると考える。

Research Output

• [Journal Article] Aortic aneurysm and craniosynostosis in a family with Cantu syndrome. (2014)
  • Author(s): Hiraki Y, Miyatake S, Hayashidani M, Nishimura Y, Matsuura H, Kamada M, Kawagoe T, Yunoki K, Okamoto N, Yofune H, Nakashima M, Tsurusaki Y, Satisu H, Murakami A, Miyake N, Nishimura G, *Matsumoto N.
  • Journal Title: Am J Med Genet Part A Volume : 164 Pages : 231-236
  • DOI: 10.1002/ajmg.a.36228.
• [Journal Article] Different patterns of cerebellar abnormality and hypomyelination between POLR3A and POLR3B mutations. (2014)
  • Author(s): *Takanashi JI, Osaka H, Saitsu H, Sasaki M, Mori H, Shibayama H, Tanaka M, Nomura Y, Terao Y, Inoue K, Matsumoto N, Barkovich JA.
  • Journal Title: Brain Dev Volume : 36 Pages : 259-263
  • DOI: 10.1016/j.braindev.2013.03.006
• [Journal Article] A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot. (2014)
  • Author(s): Nakamura K, Jinnou H, Yokochi K, Okanishi T, Enoki H, Ohki S, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake M, Matsumoto N, Saitsu H*.
  • Journal Title: Brain Dev Volume : 36 Pages : 272-273
  • DOI: 10.1016/j.braindev.2013.03.007
• [Journal Article] Is there relation between COL4A1/A2 mutations and antenatally detected fetal intraventricular hemorrhage? (2014)
  • Author(s): Kutuk MS, Balta B, Kodera H, Matsumoto N, Saitsu H, Doganay S, Canpolat M, Dolanbay M, Unal E, Dundar M.
  • Journal Title: Childs Nerv Syst Volume : 30 Pages : 419-424
  • DOI: 10.1007/s00381-013-2338-7.
• [Journal Article] A hemizygous GYG2 mutation causes Leigh syndrome. (2014)
  • Author(s): Imagawa E, Osaka H, Yamashita A, Shiina M, Takahashi E・Hideo Sugie H, Nakashima M, Tsurusaki Y, Saitsu H, Ogata K, Matsumoto N, Miyake N.
  • Journal Title: Hum Genet Volume : 133 Pages : 225-234
  • DOI: 10.1007/s00439-013-1372-6
• [Journal Article] Clinical exome sequencing in neurology practice. (2014)
  • Author(s): Miyatake S,*Matsumoto N (*: correspondence).
  • Journal Title: Nat Rev Neurol Volume : 10（12） Pages : 676-8
  • DOI: 10.1038/nrneurol.2014.213.
• [Journal Article] De novo SOX11 mutations cause Coffin-Siris syndrome. (2014)
  • Author(s): Tsurusaki Y, Ohashi H, Phadke S, Koshimizu E, Kou I, Shiina M, Suzuki T, Okamoto N, Imamura S, Yamashita M, Watanabe S, Yoshiura K-i, Kodera H, Miyatake S, Nakashima N, Saitsu H, Ogata K, Ikegawa S, Miyake N, and *Matsumoto N.
  • Journal Title: Nat Commun Volume : 5 Pages : 4011
  • DOI: 10.1038/ncomms5011
• [Journal Article] Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies, (2014)
  • Author(s): Miyatake S, Osaka H, Shiina M, Sasaki M, Takanashi J, Haginoya K, Wada T, Morimoto M, Ando N, Ikuta Y, Nakashima N, Tsurusaki Y, Miyake N, Ogata K, *Matsumoto N, *Saitsu H (*: co-correspondence).
  • Journal Title: Neurology Volume : 82(24) Pages : 2230-7
  • DOI: 10.1212/WNL.0000000000000535.
• [Journal Article] PIGA mutations cause early-onset epileptic encephalopathies and distinctive features. (2014)
  • Author(s): *Kato M#, *Saitsu H#, *Murakami Y (*: co-first authors, #: co-corespondence), Kikuchi K, Watanabe S, Iai M, Miya K, Matsuura R, Takayama R, Ohba C, Nakashima M, Tsurusaki Y, Miyake N, Hamano S, Osaka H, Hayasaka K, Kinoshita T, Matsumoto N.
  • Journal Title: Neurology Volume : 82（18） Pages : 1587-96
  • DOI: 10.1212/WNL.0000000000000389
• [Journal Article] AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes. (2014)
  • Author(s): *Nakamura K, Kato M, Tohyama J, Shiohama T, Hayasaka K, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Matsumoto N, Saitsu H.
  • Journal Title: Clin Genet Volume : 85（4） Pages : 396-8
  • DOI: 10.1111/cge.12188.
• [Journal Article] PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy. (2014)
  • Author(s): Ohba C, Okamoto N, Murakami Y, Kawato K, Suzuki Y, Ikeda T, Tsurusaki Y, Nakashima M, Miyake N, Tanaka F, Kinoshita T, *Matsumoto N, *Saitsu H (*: co-correspondence).
  • Journal Title: Neurogenet Volume : 15（2） Pages : 85-92
  • DOI: 10.1007/s10048-013-0384-7.
• [Journal Article] Early onset epileptic encephalopathy caused by de novo SCN8A mutations. (2014)
  • Author(s): Ohba C, MD, Kato M, Takahashi S, Lerman-Sagie T, Lev D, Terashima H, Kubota M, Kawawaki H, Matsufuji M, Kojima Y, Tateno A, Goldberg-Stern H, Straussberg R, MD, Marom D, Leshinsky-Silver E, Nakashima M, Nishiyama K, Tsurusaki T, Miyake N, Tanaka F, *Matsumoto N, *Saitsu H (*: co-correspondence).
  • Journal Title: Epilepsia Volume : 55（7） Pages : 994-1000
  • DOI: 10.1111/epi.12668.
• [Journal Article] De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain. (2014)
  • Author(s): #Ohba C, #Nabatame S, (# denotes equal contribution) Iijima Y, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Tanaka F, Ozono K, Saitsu H*, Matsumoto N* (*: co-corresponding).
  • Journal Title: J Hum Genet Volume : 59（5） Pages : 292-5
  • DOI: 10.1038/jhg.2014.18.
• [Journal Article] Deep sequencing detects very low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy. (2014)
  • Author(s): #Miyatake S, #Koshimizu E (# denotes equal contribution), Hayashi YK, Miya K, Shiina M, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Ogata K, Nishino I, *Matsumoto N.
  • Journal Title: Neuromuscul Disord Volume : 24（7） Pages : 642-7
  • DOI: 10.1016/j.nmd.2014.04.002.
• [Journal Article] Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3. (2014)
  • Author(s): Nakashima M, Kashii H, Murakami Y, Kato M, Tsurusaki Y, Miyake N, Kubota M, Kinoshita T, Saitsu H, Matsumoto N*.
  • Journal Title: Neurogenet Volume : 15（3） Pages : 193-200
  • DOI: 10.1007/s10048-014-0408-y.
• [Journal Article] Numerous BAF complex genes are mutated in Coffin-Siris syndrome. (2014)
  • Author(s): *Miyake N (*: corresponding author), Tsurusaki Y, Matsumoto N.
  • Journal Title: Am J Med Genet Part C Volume : 166c（3） Pages : 257-61
  • DOI: 10.1002/ajmg.c.31406.
• [Journal Article] Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss. (2014)
  • Author(s): *Nakashima M (*: corresponding author), Takano K, Osaka H, Aida N, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N.
  • Journal Title: J Hum Genet Volume : 59（8） Pages : 471-4
  • DOI: 10.1038/jhg.2014.51
• [Journal Article] Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa. (2014)
  • Author(s): Katagiri S, Akahori M, Sergeev Y, Yoshitake K, Ikeo K, Furuno M, Hayashi T, Kondo M, Ueno S, Tsunoda K, Shinoda K, Kuniyoshi K, Tsurusaki Y, Matsumoto N, Tsuneoka H, Iwata T.
  • Journal Title: Plos One 9(9) Volume : 9（9） Pages : e108721
  • DOI: 10.1371/journal.pone.0108721.
• [Journal Article] Whole exome sequencing revealed causative biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss. (2014)
  • Author(s): Tsurusaki Y, Yonezawa R, Furuya M, Nishimura G, Pooh RK, Nakashima M, Saitsu H, Miyake N, Saito S, *Matsumoto N.
  • Journal Title: Clin Genet Volume : 85（6） Pages : 592-4
  • DOI: 10.1111/cge.12215.
• [Journal Article] Coffin-Siris syndrome is a SWI/SNF complex disorder. (2014)
  • Author(s): Tsurusaki Y, Okamoto N, Ohashi H, Mizuno S, Matsumoto N, Makita Y, Fukuda M, Isidor B, Perrier J, Aggarwal S, Al-Kindy A, Liebelt J, Mowat D, Nakashima M, Saitsu H, Miyake N, *Matsumoto N.
  • Journal Title: Clin Genet Volume : 85（6） Pages : 548-54
  • DOI: 10.1111/cge.12225.
• [Journal Article] De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability and, autistic behaviors and epilepsy. (2014)
  • Author(s): Nakajima J, Okamoto N, Tohyama J, Kato M, Arai H, Funahashi O, Tsurusakia Y, Nakashima M, Kawashima H, Saitsu H, Matsumoto N#, Miyake N# (#: co-corresponding).
  • Journal Title: Clin Genet Volume : 87(4) Pages : 356-61
  • DOI: 10.1111/cge.12394.
• [Journal Article] Dominant mutations in ORAI1 cause tubular-aggregate- myopathy with hypocalcemia by constitutive activation of store-operated Ca2+ channel. (2014)
  • Author(s): Endo Y, *Noguchi S, Hara Y, Hayashi YK, Motomura K, Murakami N, Tanaka S, Yamashita S, Kizu R, Bamba M, Goto Y, Matsumoto N, Nonaka I, Nishino I.
  • Journal Title: Hum Mol Genet Volume : 24（3） Pages : 637-48
  • DOI: 10.1093/hmg/ddu477.
• [Journal Article] Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation. (2014)
  • Author(s): 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.
  • Journal Title: Sci Rep Volume : 24（4） Pages : 7132
  • DOI: 10.1038/srep07132.
• [Journal Article] Atypical giant axonal neuropathy arising from a homozygous mutation by uniparental isodisomy. (2014)
  • Author(s): *Miyatake S, *Koshimizu E, (*: corresponding author), Tada H, Satoshi Moriya S, Takanashi J, Hirano Y, Hayashi M, Nakashima M, Tsurusaki Y, Miyake N, Matsumoto N, Saitsu H.
  • Journal Title: Clin Genet Volume : 87（4） Pages : 395-7
  • DOI: 10.1111/cge.12455.
• [Journal Article] Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta. (2014)
  • Author(s): Cho SY, Asharani PV, Kim OH, Iida A, Miyake N, Matsumoto N, Nishimura G, Ki CS, Hong G, Kim SJ, Sohn YB, Park SW, Lee J, Kwun Y, Carney TJ, Huh R, Ikegawa S, Jin DK.
  • Journal Title: Hum Mutat Volume : 36（2） Pages : 191-5
  • DOI: 10.1002/humu.22731
• [Journal Article] Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation. (2013)
  • Author(s): *Miyake N#, Yano S# (# denotes equal contribution), Sakai C, Hatakeyama H, Shiina M, Watanabe Y, Bartley J, Abdenur JE, Wang RY, Chang R, Tsurusaki Y, Doi H, Saitsu H, Ogata K, Goto Y, *Matsumoto N (*: corresponding).
  • Journal Title: Hum Mut Volume : 34 Pages : 446-452
  • DOI: 10.1002/humu.22257
• [Journal Article] De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. (2013)
  • Author(s): *Saitsu H#, Nishimura T#, Muramatsu K# (# denotes equal contribution), Kodera H, Kumada S, Sugai K, Kasai-Yoshida E, Sawaura N, Nishida H, Hoshino A, Ryujin F, Yoshioka S, Nishiyama K, Kondo Y, Tsurusaki Y, Nakashima M, Miyake N, Arakawa H, Kato M, *Mizushima, *Matsumoto N (*: co-corresponding).
  • Journal Title: Nat Genet Volume : 45 Pages : 445-449
  • DOI: 10.1038/ng.2562
• [Journal Article] Essential role of the IRF8-KLF4 transcription factor cascade in the monocyte differentiation program. (2013)
  • Author(s): Kurotaki D, Osato N, Nishiyama A, Yamamoto M, Sato H, Nakabayashi J, Ban T, Miyake N, Matsumoto N, Nakazawa M, Ozato K, *Tamura T.
  • Journal Title: Blood Volume : 121 Pages : 1839-1849
  • DOI: 10.1182/blood-2012-06-437863
• [Journal Article] Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders. (2013)
  • Author(s): Nakajima M,# Mizumoto S,# Miyake N,# (# denotes equal contribution) et al., Matsumoto N, et al.
  • Journal Title: Am J Hum Genet Volume : 92 Pages : 927-934
  • DOI: 10.1038/ng.2562
• [Journal Article] Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene. (2013)
  • Author(s): Nishiguchi KM, Tearle RG, Liu Y, Oh EC, Miyake N, Benaglio P, Harper S, Koskiniemi-Kuendig H, Venturini G, Sharon D, Koenekoop RK, Nakamura M, Kondo M, Ueno S, Yasuma T, Beckmann JS, Ikegawa I, Matsumoto N, Terasaki H, Berson EL, Katsanis N, Rivolta C.
  • Journal Title: Proc Natl Acad Sci USA Volume : 110 Pages : 16139-16144
  • DOI: 10.1073/pnas.1308243110
• [Journal Article] Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. (2013)
  • Author(s): Ravenscroft G#, Miyatake S# (# denotes the first authors with equal contribution), et al., Miyake N, et al., *Matsumoto N§, *Laing NG§ (§ denotes equal contribution as the last author)
  • Journal Title: Am J Hum Genet Volume : 93 Pages : 6-18
  • DOI: 10.1016/j.ajhg.2013.05.004.
• [Journal Article] MLL2 and KDM6A mutations and their clinical consequences in Kabuki syndrome. (2013)
  • Author(s): *Miyake N, et al., *Matsumoto N, Niikawa N.
  • Journal Title: Am J Med Genet Part A Volume : 161 Pages : 2234-2243
  • DOI: 10.1002/ajmg.a.36072
• [Journal Article] De novo mutations in GNAO1 encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy. (2013)
  • Author(s): #Nakamura K, #Kodera H, #Akita T (# denotes equal contribution), et al., Miyake N, et al., *Matsumoto N, *Saitsu H (* denotes co-correspondence)
  • Journal Title: Am J Hum Genet Volume : 93 Pages : 496-505
  • DOI: 10.1016/j.ajhg.2013.07.014
• [Journal Article] Identification of KLHL41 mutations implicates BTB-Kelch-mediated ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathy. (2013)
  • Author(s): Gupta VA, et al., Matsumoto N, et al.
  • Journal Title: Am J Hum Genet Volume : 93 Pages : 1108-1117
  • DOI: 10.1016/j.ajhg.2013.10.020
• [Journal Article] A de novo deletion at 16q24.3 involving ANKRD11 in a Japanese patient with KBG syndrome. (2013)
  • Author(s): Miyatake S, Murakami A, Okamoto N, Miyake N, Saitsu H, *Matsumoto N.
  • Journal Title: Am J Med Genet Part A Volume : 161A Pages : 1073-1077
  • DOI: 10.1002/ajmg.a.35661.
• [Journal Article] A novel homozygous SCARB2 mutation causes late-onset progressive myoclonus epilepsy without renal failure. (2013)
  • Author(s): Higashiyama Y, *Doi H, Wakabayashi M, Tsurusaki Y, Miyake N, Saitsu H, Ohba C, Fukai R, Miyatake S, Koyano S, Suzuki Y, Kuroiwa Y, Matsumoto N.
  • Journal Title: Mov disord Volume : 28 Pages : 552-553
  • DOI: 10.1002/mds.25296.
• [Journal Article] Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition Microphthalmia with Limb Anomalies-like. (2013)
  • Author(s): Kondo Y, Koshimizu E, Megarbane A, Hamanoue H, Okada I, Nishiyama K, Kodera H, Miyatake S, Tsurusaki Y, Nakashima M, Doi H, Miyake N, Saitsu H, *Matsumoto N.
  • Journal Title: Am J Med Genet Part A Volume : 161A Pages : 1543-1546
  • DOI: 10.1002/ajmg.a.35983.
• [Journal Article] Pathogenic mutations in two families with congenital cataract identified by whole-exome sequencing. (2013)
  • Author(s): Kondo Y, Saitsu H, Miyamoto T, Lee BJ, Nishiyama K, Mitsuko Nakashima1, Tsurusaki Y, Doi H, Miyake N, Kim JH, Yu YS, *Matsumoto N.
  • Journal Title: Mol Vis Volume : 19 Pages : 384-389
• [Journal Article] A case of Toriello-Carey syndrome with severe congenital tracheal stenosis. (2013)
  • Author(s): Yokoo N, Marumo C, Nishida Y, Iio J, Maeda S, Nonaka M, Maihara T, Chujoh S, Katayama T, Sakazaki H, Matsumoto N, Okamoto N.
  • Journal Title: Am J Med Genet Part A Volume : 161 Pages : 2291-2293
  • DOI: 10.1002/ajmg.a.35861.
• [Journal Article] Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome. (2013)
  • Author(s): Nakamura K, et al., Miyake N, et al., *Matsumoto N, *Saitsu H (* denotes co-corresponding).
  • Journal Title: Neurology Volume : 81 Pages : 992-998
  • DOI: 10.1212/WNL.0b013e3182a43e57
• [Journal Article] Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with autism spectrum disorder. (2013)
  • Author(s): Koshimizu E#, Miyatake S# (# denotes equal contribution), Okamoto N, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N.
  • Journal Title: Plos One Volume : 8 Pages : e74167
  • DOI: 10.1371/journal.pone.0074167
• [Journal Article] Co-occurrence of 22q11 deletion syndrome and HDR Syndrome. (2013)
  • Author(s): Fukai R, Ochi N, Murakamia A, Nakashima M, Tsurusakia Y, Saitsu H, *Matsumoto N, *Miyake N.
  • Journal Title: Am J Med Genet Part A Volume : 161 Pages : 2576-2581
  • DOI: 10.1002/ajmg.a.36083.
• [Journal Article] Clinical consequences of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature. (2013)
  • Author(s): *Kosho T, et al., Miyake N, *Matsumoto N (*: co-corresponding).
  • Journal Title: Am J Med Genet Part A Volume : 161 Pages : 1221-1237
  • DOI: 10.1002/ajmg.a.35933
• [Journal Article] Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia. (2013)
  • Author(s): Iida A, Nobuhiko 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.
  • Journal Title: J Hum Genet Volume : 58 Pages : 391-394
  • DOI: 10.1038/jhg.2013.25.
• [Journal Article] Target capture sequencing for detection of mutations and copy number changes causing early-onset epileptic encephalopathy. (2013)
  • Author(s): Kodera H, Kato M, Nord AS, Walsh T, Lee M, Yamanaka G, Tohyama J, Nakamura K, Nakagawa E, Ikeda T, Ben-Zeev B, Lev D, Lerman-Sagie T, Straussberg R, Tanabe S, Ueda K, Amamoto M, Ohta S, Nododa Y, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Hayasaka K, King M-C, Matsumoto N, *Saitsu H.
  • Journal Title: Epilepsia Volume : 54 Pages : 1262-1269
  • DOI: 10.1111/epi.12203
• [Journal Article] Y-Chromosome-linked B- and NK-cell deficiency in mice. (2013)
  • Author(s): Sun S-L, Horino S, Itoh-Nakadai A, Kawabe T, Asao A, Takahashi T, So T, Ryo Funayama R, Kondo M, Saitsu H, Matsumoto N, Nakayama K, Ishii N*.
  • Journal Title: J Immunol Volume : 190 Pages : 6209-6220
  • DOI: 10.4049/jimmunol.1300303.
• [Journal Article] Diagnostic utility of exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia: identification of a novel homozygous SPG7 mutation. (2013)
  • Author(s): *Doi H, Ohba C, Tsurusaki Y, Miyake N, Saitsu H, Miyatake S, Kawamoto Y, Yoshida T, Koyano S, Suzuki Y, Kuroiwa Y, Matsumoto N.
  • Journal Title: Intern Med Volume : 52 Pages : 1629-1633
• [Journal Article] A Unique Case of de novo 5q33.3q34 Triplication with Uniparental Isodisomy of 5q34qter. (2013)
  • Author(s): Fujita A, Suzumura H, Nakashima M, Tsurusaki Y, Saitsu H, Harada N, *Matsumoto N,*Miyake N.
  • Journal Title: Am J Med Genet Part A Volume : 161 Pages : 1904-1909
  • DOI: 10.1002/ajmg.a.36026.
• [Journal Article] De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy. (2013)
  • Author(s): Kodera H#, Nakamura K# (# denotes equal contribution), Osaka H, Maegaki Y,Haginoya K, Mizumoto S, Kato M, Okamoto N, Iai M, Kondo Y, Nishiyama K, Tsurusaki Y, Mitsuko Nakashima M, Miyake N, Hayasaka K, Sugahara K, Yuasa I, Wada Y, *Matsumoto N, *Saitsu H (*: co-corresponding).
  • Journal Title: Hum Mut Volume : 34 Pages : 1708-1714
  • DOI: 10.1002/humu.22446.
• [Journal Article] Diagnostic utility of whole exome sequencing in cerebellar atrophy in childhood. (2013)
  • Author(s): Ohba C, Osaka H, Iai M, Yamashita S, Suzuki S, Aida N, Doi H, Tomita-Katsumoto A, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Tanaka F, *Matsumoto N, *Saitsu H (*: co-correspondence).
  • Journal Title: Neurogenet Volume : 14 Pages : 225-232
  • DOI: 10.1007/s10048-013-0375-8.
• [Journal Article] A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia syndrome. (2013)
  • Author(s): Nakajima J, Eminoglu TF, Vatansever G, Nakashima M, Tsurusakia Y, Saitsu H, Kawashima H, *Matsumoto N, *Miyake N (*: co-correspondence).
  • Journal Title: J Hum Genet Volume : 58 Pages : 822-824
  • DOI: 10.1038/jhg.2013.104.
• [Journal Article] Clinical spectrum of early-onset epileptic encephalopathies caused by KCNQ2 mutations. (2013)
  • Author(s): *Kato M, Yamagata T, Kubota M, Arai H, Yamashita S, Nakagawa T, Fujii T, Sugai K, Imai K, Uster T, Chitayat D, Weise S, Kashii H, Kusano R, Matsumoto A, Nakamura K, Oyazato Y, Maeno M, Nishiyama K, Kadera H, Nakashima M, Tsurusaki Y, Miyake N, Saito K, Hayasaka K, Matsumoto N, *Saitsu H.
  • Journal Title: Epilepsia Volume : 54 Pages : 1282-1287
  • DOI: 10.1111/epi.12200
• [Presentation] 個別化医療を進めるために (2014)
  • Author(s): 松本 直通
  • Organizer: 日本遺伝子診療学会：遺伝子診断・検査技術推進フォーラム公開シンポジウム2014
  • Place of Presentation: コクヨホール（東京都）
  • Year and Date: 2014-12-12 – 2014-12-12
• [Presentation] Coffin-Siris症候群の新規遺伝子探索 (2014)
  • Author(s): 松本 直通
  • Organizer: NCNP（精神・神経疾患研究開発費（後藤班）平成26年度報告会
  • Place of Presentation: NCNP（東京都）
  • Year and Date: 2014-12-09 – 2014-12-09
• [Presentation] TUBB4A変異による先天性白質形成不全症 (2014)
  • Author(s): 松本 直通
  • Organizer: NCNP（精神・神経疾患研究開発費（佐々木班）平成26年度報告会
  • Place of Presentation: NCNP（東京都）
  • Year and Date: 2014-11-30 – 2014-11-30
• [Presentation] “Congenital intellectual disability syndromes arising from mutations of epigenetic regulators”in the symposium for epigenetic dysregulation and disease. (2014)
  • Author(s): 松本 直通
  • Organizer: The 37th annual meeting of the molecular biology society of Japan
  • Place of Presentation: Pacifico Yokohama（神奈川県）
  • Year and Date: 2014-11-27 – 2014-11-27
• [Presentation] 人類遺伝学研究におけるデータベースの重要性 (2014)
  • Author(s): 松本 直通
  • Organizer: 日本人類遺伝学会第59回大会 NPGランチョンセミナー
  • Place of Presentation: タワーホール船堀（東京都）
  • Year and Date: 2014-11-22 – 2014-11-22
• [Presentation] 次世代シーケンサーを用いた染色体・ゲノム構造異常解析 (2014)
  • Author(s): 松本 直通
  • Organizer: 日本人類遺伝学会第59回大会
  • Place of Presentation: タワーホール船堀（東京都）
  • Year and Date: 2014-11-21 – 2014-11-21
• [Presentation] 次世代シーケンサーによる遺伝子解析 (2014)
  • Author(s): 松本 直通
  • Organizer: 第56回日本先天代謝異常学会総会
  • Place of Presentation: 江陽グランドホテル・仙台（宮城県）
  • Year and Date: 2014-11-14 – 2014-11-14
• [Presentation] 次世代シーケンサーの活用法 (2014)
  • Author(s): 松本 直通
  • Organizer: 第17回胎児遺伝子診断研究会
  • Place of Presentation: 長崎ハウステンボス（長崎県）
  • Year and Date: 2014-11-07 – 2014-11-07
• [Presentation] ゲノム解析と医療--1000ドルゲノム時代を迎えて-- (2014)
  • Author(s): 松本 直通
  • Organizer: KOBE内分泌・代謝スキルアップセミナー特別講演
  • Place of Presentation: ホテルクラウンパレス神戸（兵庫県）
  • Year and Date: 2014-08-23 – 2014-08-23
• [Presentation] ヒト発生・発達異常の分子探索と診断法の開発 (2014)
  • Author(s): 松本 直通
  • Organizer: 文部科学省イノベーションシステム整備事業先端融合領域イノベーション創出拠点形成プログラム「翻訳後修飾プロテオミクス医療研究拠点の形成」第5回公開シンポジウム
  • Place of Presentation: 県民共済みなとみらいホール（神奈川県）
  • Year and Date: 2014-08-19 – 2014-08-19
• [Presentation] 難病を解き明かすヒト全遺伝子・全ゲノム解析 (2014)
  • Author(s): 松本 直通
  • Organizer: 横浜市立大学先端医科学研究センター市民講座
  • Place of Presentation: ウィング横浜（神奈川県）
  • Year and Date: 2014-08-07 – 2014-08-07
• [Presentation] 遺伝性疾患のゲノム解析---1000ドルゲノム時代を迎えて--- (2014)
  • Author(s): 松本 直通
  • Organizer: がん研臨床試験・研究センター 第12回臨床研究セミナー
  • Place of Presentation: がん研究会（東京都）
  • Year and Date: 2014-07-03 – 2014-07-03
• [Presentation] 発達障害のゲノム解析 (2014)
  • Author(s): 松本 直通
  • Organizer: 第110回日本精神神経学会学術総会
  • Place of Presentation: パシフィコ横浜（神奈川県）
  • Year and Date: 2014-06-27 – 2014-06-27
• [Presentation] ゲノム解析と医療：1000ドルゲノム時代を迎えて (2014)
  • Author(s): 松本 直通
  • Organizer: 藤田保健衛生大学遺伝子網羅的解析センター開所記念セミナー・特別講演
  • Place of Presentation: 藤田保健衛生大学（愛知県）
  • Year and Date: 2014-06-21 – 2014-06-21
• [Presentation] Neurodegeneration with Brain Iron Accumulation (NBIA): 急速に広がる疾患概念 (2014)
  • Author(s): 松本 直通
  • Organizer: 第55回日本神経病理学会総会学術集会
  • Place of Presentation: 学術総合センター（東京都）
  • Year and Date: 2014-06-07 – 2014-06-07
• [Presentation] ゲノム解析と医療：1000ドルゲノムシーケンス時代を迎えて (2014)
  • Author(s): 松本 直通
  • Organizer: 信州大学先鋭領域融合研究群バイオメディカル研究所設立記念講演会・記念講演会
  • Place of Presentation: 信州大学医学部（長野県）
  • Year and Date: 2014-05-25 – 2014-05-25
• [Presentation] ゲノム解析と医療：1000ドルゲノム時代を迎えて (2014)
  • Author(s): 松本 直通
  • Organizer: 九州大学産婦人科セミナー
  • Place of Presentation: 第二博多偕成ビルアイクレオ（福岡県）
  • Year and Date: 2014-05-21 – 2014-05-21
• [Presentation] 遺伝性疾患におけるエクソーム解析の有用性 (2014)
  • Author(s): 松本 直通
  • Organizer: 第382回医学研究の基礎を語り合う集い
  • Place of Presentation: 東京慈恵医科大学（東京都）
  • Year and Date: 2014-04-21 – 2014-04-21
• [Presentation] Next generation sequencing dissecting human genetic diseases (2014)
  • Author(s): 松本 直通
  • Organizer: The 9th Cherry Blossom Symposium.
  • Place of Presentation: 横浜赤レンガ倉庫（神奈川県）
  • Year and Date: 2014-04-19 – 2014-04-19
• [Presentation] 次世代シーケンサー解析のポテンシャルと小児医療 (2014)
  • Author(s): 松本 直通
  • Organizer: 第37回日本小児遺伝学会学術集会・シンポジウム
  • Place of Presentation: 名古屋市立大学桜山キャンパス（愛知県）
  • Year and Date: 2014-04-10 – 2014-04-10
• [Presentation] Mendelian Exome Analysis
  • Author(s): Naomichi Matsumoto
  • Organizer: The 10th International Workshop on Advanced Genomics
  • Place of Presentation: National Center of Sciences, Tokyo
• [Presentation] De novo mutations in the autophagy gene encoding WDR45 (WIPI4) cause static encephalopathy of childhood with neurodegeneration in adulthood
  • Author(s): N. Matsumoto, T. Nishimura, K. Muramatsu, H. Kodera, S. Kumada, K. Sugai, E. Kasai-Yoshida, N. Sawaura, H. Nishida, A. Hoshino, F. Ryujin, S. Yoshioka, H. Arakawa, M. Kato, N. Mizushima, H. Saitsu
  • Organizer: European Conference of Human Genetic 2013
  • Place of Presentation: Palais des Congrès, Paris, France
• [Presentation] 次世代シーケンサーを用いてわかってきたこと
  • Author(s): 松本直通
  • Organizer: 第17回小児分子内分泌研究会
  • Place of Presentation: 札幌北広島クラッセホテル・北海道
• [Presentation] 疾患ゲノム解析における次世代シーケンサーの有用性
  • Author(s): 松本直通
  • Organizer: 第20回日本遺伝子診療学会大会
  • Place of Presentation: アクトシティ―浜松コングレスセンター・静岡県浜松市
• [Presentation] 次世代シーケンサーを用いた疾患ゲノム解析
  • Author(s): 松本直通
  • Organizer: CiRA genomics epigenomics and bioinformatics seminar series VIII
  • Place of Presentation: CiRA京都大学・京都府京都市
• [Presentation] NGSがもたらしたヒト疾患ゲノム解析のパラダイムシフト
  • Author(s): 松本直通
  • Organizer: 現場の会第三回研究会
  • Place of Presentation: 神戸国際会議場・兵庫県神戸市
• [Presentation] 次世代シーケンサーを用いた疾患ゲノム解析：現状と限界
  • Author(s): 松本直通
  • Organizer: 第22回発達腎研究会
  • Place of Presentation: 高槻市生涯学習センター・大阪府高槻市
• [Presentation] 次世代シーケンス解析で分かってきたこと
  • Author(s): 松本直通
  • Organizer: 第18回山形小児神経研究会
  • Place of Presentation: パレスグランデール・山形県山形市
• [Presentation] ヒト疾患エクソーム解析の現状と課題
  • Author(s): 松本直通
  • Organizer: 第58回日本人類遺伝学会大会
  • Place of Presentation: 江陽グランドホテル仙台・宮城県仙台市
• [Presentation] 希少疾患・難病の全エクソーム解析-現状と課題-
  • Author(s): 松本直通
  • Organizer: 日経バイオテク「希少疾患・難病の治療薬開発におけるゲノム活用」
  • Place of Presentation: 秋葉原コンベンションホ―ル・東京
• [Patent(Industrial Property Rights/JSPS)] Coffin-Siris症候群の新規遺伝子診断法
  • Inventor(s): 鶴崎美徳/松本直通
  • Industrial Property Rights Holder: 横浜市立大学
  • Industrial Property Rights Type: 特許
  • Industrial Property Number: 特願2013-252720
  • Filing Date: 2013-12-06
  • Application Year: 2013
• [Patent(Industrial Property Rights/JSPS)] ミトコンドリア複合体III欠乏症患者又は保因者の検出方法
  • Inventor(s): 松本直通/三宅紀子
  • Industrial Property Rights Holder: 横浜市立大学
  • Industrial Property Rights Type: 特許
  • Industrial Property Number: PCT/JP2013/71620
  • Filing Date: 2014-02-07
  • Application Year: 2014
• [Patent(Industrial Property Rights/JSPS)] ケトン血症を伴うリー脳症患者または保因者の検出法
  • Inventor(s): 松本直通/三宅紀子
  • Industrial Property Rights Holder: 横浜市立大学
  • Industrial Property Rights Type: 特許
  • Industrial Property Number: 特願2013-157339
  • Filing Date: 2013-07-31
  • Application Year: 2013
• [Patent(Industrial Property Rights/JSPS)] 小児期のてんかんおよび不随意運動をきたす疾患の検出方法
  • Inventor(s): 才津浩智/松本直通
  • Industrial Property Rights Holder: 横浜市立大学
  • Industrial Property Rights Type: 特許
  • Industrial Property Number: 特願2013-123660
  • Filing Date: 2013-06-12
  • Application Year: 2013
• [Patent(Industrial Property Rights/JSPS)] 重度の知的障害及び運動発達遅滞を伴う難治性てんかんの検出方法
  • Inventor(s): 松本直通・才津浩智
  • Industrial Property Rights Holder: 横浜市立大学
  • Industrial Property Rights Type: 特許
  • Industrial Property Number: PCT/JP2014/065217
  • Filing Date: 2014-06-09
  • Application Year: 2014
• [Patent(Industrial Property Rights/JSPS)] コフィン－シリス症候群の検出方法
  • Inventor(s): 松本直通・三宅紀子・鶴崎美徳
  • Industrial Property Rights Holder: 横浜市立大学
  • Industrial Property Rights Type: 特許
  • Industrial Property Number: 2013-552406
  • Filing Date: 2014-07-14
  • Application Year: 2014
• [Patent(Industrial Property Rights/JSPS)] 孔脳症又は脳出血のリスクを予測する方法
  • Inventor(s): 松本直通・才津浩智
  • Industrial Property Rights Holder: 横浜市立大学
  • Industrial Property Rights Type: 特許
  • Industrial Property Number: 14/357,373
  • Filing Date: 2014-05-09
  • Application Year: 2014