Identification of novel disease genes utilizing next generation sequencer

• Project/Area Number: 23689052
• Research Category: Grant-in-Aid for Young Scientists (A)
• Allocation Type: Single-year Grants
• Research Field: Pediatrics
• Research Institution: Yokohama City University
• Principal Investigator: MIYAKE Noriko 横浜市立大学, 医学部, 准教授 (40523494)
• Co-Investigator(Renkei-kenkyūsha): KATO Mitsuhiro 山形大学, 医学部, 講師 (10292434) ; OKAMOTO Nobuhiko 大阪府立母子総合医療センター, 企画調査部, 参事 (30416242)
• Project Period (FY): 2011 – 2012
• Project Status: Completed (Fiscal Year 2012)
• Budget Amount: ¥25,350,000 (Direct Cost: ¥19,500,000、Indirect Cost: ¥5,850,000); Fiscal Year 2012: ¥12,480,000 (Direct Cost: ¥9,600,000、Indirect Cost: ¥2,880,000); Fiscal Year 2011: ¥12,870,000 (Direct Cost: ¥9,900,000、Indirect Cost: ¥2,970,000)
• Keywords: 遺伝 / 先天異常学 / 分子遺伝学 / 人類遺伝学 / 先天奇形学 / 小児科

Research Abstract

Our aim is to identify the novel disease genes responsible for the congenital diseases. Based on the genetic evidence, we intend to clarify the whole picture of the etiology and contribute to develop the diagnostic tools, prevention and treatment. In this project, utilizing the emerging technology of next generation sequencer, we successfully identified total number of eight novel responsible genes for Coffin-Siris syndrome, Mitochondrial complex III deficiency and autosomal recessive brachyolmia.

Research Products

• [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
  • Journal Title: Hum Mut Volume: 34(3):446-452 Issue: 3 Pages: 446-452
  • DOI: 10.1002/humu.22257
  • Peer Reviewed
• [Journal Article] The diagnostic utility of exome sequencing in Joubert syndrome related disorders (2013)
  • Author(s): Tsurusaki Y, Kobayashi Y, Hisano M, Ito S, Doi H, Nakashima M, Saitsu H, Matsumoto N, Miyake N
  • Journal Title: J Hum Genet Volume: 58(2):113-115 Issue: 2 Pages: 113-115
  • DOI: 10.1038/jhg.2012.117
  • NAID: 10031156434
  • Peer Reviewed
• [Journal Article] Essential role of the IRF8-KLF4 transcription factor cascade in murine monocyte differentiation. (2013)
  • Author(s): Daisuke Kurotaki et al.
  • Journal Title: Blood Volume: 121 Issue: 10 Pages: 1839-1849
  • DOI: 10.1182/blood-2012-06-437863
  • Peer Reviewed
• [Journal Article] Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly (2013)
  • Author(s): Yoneda Y, Haginoya K,…..*Saitsu H
  • Journal Title: Ann Neurol Volume: 73(1):48-57 Issue: 1 Pages: 48-57
  • DOI: 10.1002/ana.23736
  • Peer Reviewed
• [Journal Article] Neuropathology of leukoencephalopathy with brainstem and spinal cord involvement and high lactate caused by a homozygous mutation of DARS2. (2013)
  • Author(s): Yamashita S
  • Journal Title: Brain Dev. Volume: 35 Issue: 4 Pages: 312-316
  • DOI: 10.1016/j.braindev.2012.05.007
  • Peer Reviewed
• [Journal Article] A case of cerebral hypomyelination with spondylo-epi-metaphyseal dysplasia. (2013)
  • Author(s): 97. Kimura-Ohba S, Kagitani-Shimono K, Hashimoto N, Nabatame S, Okinaga T,Murakami A, Miyake N, Matsumoto N, Osaka H, Hojo K, Tomita R, Taniike M, Ozono K.
  • Journal Title: Am J Med Genet A. Volume: 161 Issue: 1 Pages: 203-7
  • DOI: 10.1002/ajmg.a.35686
  • Peer Reviewed
• [Journal Article] Exome sequencing in a family with an X-linked lethal malformation syndrome : clinical consequences of hemizygous truncating OFD1 mutations in male patients (2012)
  • Author(s): Tsurusaki Y, Kosho T, Hatasaki K, Narumi Y, Wakui K, Fukushima Y, Doi H, Saitsu H, Miyake N, Matsumoto N
  • Journal Title: Clin Genet Volume: (in press) Issue: 2 Pages: 135-144
  • DOI: 10.1111/j.1399-0004.2012.01885.x
  • Peer Reviewed
• [Journal Article] Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome (2012)
  • Author(s): 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
  • Journal Title: Nat Genet Volume: 44 Issue: 4 Pages: 376-378
  • DOI: 10.1038/ng.2219
  • Peer Reviewed
• [Journal Article] KDM6A point mutations cause Kabuki syndrome (2012)
  • Author(s): Miyake N, Mizuno S, Okamoto N, Ohashi H, Shiina M, Ogata K, Tsurusaki Y, Nakashima M, Saitsu H, *Matsumoto N (*: co-corresponding)
  • Journal Title: Hum Mut Volume: 34(1):108-110 Issue: 1 Pages: 108-110
  • DOI: 10.1002/humu.22229
  • Peer Reviewed
• [Journal Article] PAPSS2 mutations cause autosomal recessive brachyolmia (2012)
  • Author(s): Miyake N^<#>, Elcioglu NH^<#> (# denotes equal contribution), Iida A, Isguven P, Dai J, Murakami N, Takamura K, Cho T-J, Kim O-H, Nagai T, Ohashi H, Nishimura G, Matsumoto N, Ikegawa S
  • Journal Title: J Med Genet Volume: 49(8): 533-538 Issue: 8 Pages: 533-538
  • DOI: 10.1136/jmedgenet-2012-101039
  • Peer Reviewed
• [Journal Article] A novel SACS mutation in a Japanese family with atypical phenotype of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) (2012)
  • Author(s): Miyatake S, Miyake N, Doi H, Ogata K, Kawai M, Matsumoto N
  • Journal Title: Intern Med Volume: 51: 2221-2226
  • URL: https://www.jstage.jst.go.jp/article/internalmedicine/51/16/51_51.7374/_article
  • Peer Reviewed
• [Journal Article] Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods : resequencing microarray technology and next-generation sequencing (2012)
  • Author(s): Sakai H, Suzuki S, Mizuguchi T, Imoto K, Yamashita Y, Doi H, Kikuchi M, Tsurusaki Y, Saitsu H, Miyake N, Masuda M, Matsumoto N
  • Journal Title: Hum Genet Volume: 131巻 Issue: 4 Pages: 591-599
  • DOI: 10.1007/s00439-011-1105-7
  • Peer Reviewed
• [Journal Article] Homozygous c. 14576G> A Variant of<I> RNF213</I> Predicts Early-Onset and Severe Form of Moyamoya Disease (2012)
  • Author(s): Miyatake S, Miyake N, Touho H, Nishimura-T, A, Kondo Y, Okada ; I, Tsurusaki ; Y, Doi H, Sakai H, Saitsu ; H, Shimojima K, Yamamoto T, Higurashi M, Kawahara, N, Kawauchi, H, Nagasaka, K, Okamoto N, Mori, T, Koyano S, Kuroiwa Y, Taguri M, Morita S, Matsuba S, Kure S, Matsumoto N
  • Journal Title: Neurology Volume: 78(11) Issue: 11 Pages: 803-10
  • DOI: 10.1212/wnl.0b013e318249f71f
  • Peer Reviewed
• [Journal Article] Whole exome sequenwcing identifies KCNQ2 mutations in Ohtahara syndrome. (2012)
  • Author(s): Saitsu H, Kato M, Koide A, Goto T, Fujita T, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Hayasaka K, Matsumoto N
  • Journal Title: Ann Neurol Volume: 72(2): 298-300
  • Peer Reviewed
• [Journal Article] CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia (2012)
  • Author(s): *Saitsu H et al.
  • Journal Title: Epilepsia Volume: 53(8):1441-1449 Issue: 8 Pages: 1441-1449
  • DOI: 10.1111/j.1528-1167.2012.03548.x
  • Peer Reviewed
• [Journal Article] Association of genomic deletions in the STXBP1 gene with Ohtahara syndrome (2012)
  • Author(s): *Saitsu H et al.
  • Journal Title: Clinical Genetics Volume: 81(4):399-402 Issue: 4 Pages: 86-90
  • DOI: 10.1111/j.1399-0004.2011.01733.x
  • Peer Reviewed
• [Journal Article] A family of oculofaciocardiodental syndrome(OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS (2012)
  • Author(s): Kondo Y, Saitsu H, Miyamoto T, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Ryoo NK, Kim JH, Yu YS, Matsumoto N
  • Journal Title: J Hum Genet Volume: 57巻 Issue: 3 Pages: 197-201
  • DOI: 10.1038/jhg.2012.4
  • NAID: 10030712110
  • Peer Reviewed
• [Journal Article] Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features (2012)
  • Author(s): 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
  • Journal Title: J Hum Genet Volume: 57巻 Issue: 3 Pages: 207-211
  • DOI: 10.1038/jhg.2012.7
  • NAID: 10030712151
  • Peer Reviewed
• [Journal Article] A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity. (2012)
  • Author(s): Tsurusaki Y, Saitoh S, Tomizawa K, Sudo A, Asahina N, Shiraishi H, Ito J, Tanaka H, Doi H, Saitsu H, Miyake N, Matsumoto N.
  • Journal Title: Neurogenetics. Volume: 13 Issue: 4 Pages: 327-332
  • DOI: 10.1007/s10048-012-0337-6
  • Peer Reviewed
• [Journal Article] Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome (2012)
  • Author(s): *Saitsu H et al.
  • Journal Title: Ann Neurol Volume: 72(2):298-300 Issue: 2 Pages: 298-300
  • DOI: 10.1002/ana.23620
  • Peer Reviewed
• [Journal Article] Sibling cases of moyamoya disease having homozygous and heterozygous c.14576G>A variant in RNF213 showed varying clinical course and severity. (2012)
  • Author(s): Miyatake S
  • Journal Title: J Hum Genet. Volume: 57 Issue: 12 Pages: 804-806
  • DOI: 10.1038/jhg.2012.105
  • Peer Reviewed
• [Journal Article] Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease (2012)
  • Author(s): Miyatake S, et al
  • Journal Title: Neurology Volume: 78 Pages: 803-810
  • Peer Reviewed
• [Journal Article] De novo and inherited mutations in COL4A2, encoding the type IV collagen a2 chain cause porencephaly (2012)
  • Author(s): Yoneda Y, et al
  • Journal Title: Am J Hum Genet Volume: 90 Pages: 86-90
  • Peer Reviewed
• [Journal Article] De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen alpha2 Chain Cause Porencephaly (2011)
  • Author(s): Yoneda Y, et al.
  • Journal Title: Am J Hum Genet Volume: 90 Issue: 1 Pages: 86-90
  • DOI: 10.1016/j.ajhg.2011.11.016
  • Peer Reviewed
• [Journal Article] A novel homozygous mutation of DARS2 may cause a severe LBSL variant (2011)
  • Author(s): Miyake N, Yamashita S, Kurosawa K, Miyatake S, Tsurusaki Y, Doi H, Saitsu H, Matsumoto N
  • Journal Title: Clin Genet Volume: 80巻 Issue: 3 Pages: 293-296
  • DOI: 10.1111/j.1399-0004.2011.01644.x
  • Peer Reviewed
• [Journal Article] Expansion of the CHN1 strabismus phenotype (2011)
  • Author(s): Miyake N, Demer JL, Shaaban S, Andrews C, Chan WM, Christiansen SP, Hunter DG, Engle EC
  • Journal Title: Invest Ophthalmol Vis Sci Volume: 52(9):6321-6328 Issue: 9 Pages: 6321-6321
  • DOI: 10.1167/iovs.11-7950
  • Peer Reviewed
• [Journal Article] Rapid detection of a mutation causing X-linked leucoencephalopathy by exome sequencing (2011)
  • Author(s): Tsurusaki Y, Osaka H, Hamanoue H, Shimbo H, Tsuji M, Doi H, Saitsu H, Matsumoto N, Miyake N
  • Journal Title: J Med Genet Volume: 48巻 Issue: 9 Pages: 606-609
  • DOI: 10.1136/jmg.2010.083535
  • Peer Reviewed
• [Journal Article] A response to: loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, dermatan sulfate-deficient Adducted Thumb-Clubfoot Syndrome. Which name is appropriate, Adducted Thumb-Clubfoot Synd (2011)
  • Author(s): Kosho T, Miyake N, Mizumoto S, Hatamochi A, Fukushima Y, Yamada S, Sugahara K, Matsumoto N
  • Journal Title: Hum Mutat Volume: 32(12):1507-9
  • Peer Reviewed
• [Journal Article] A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder (2011)
  • Author(s): Abdel-Salam GM, Miyake N, Eid MM, Abdel-Hamid MS, Hassan NA, Eid OM, Effat LK, El-Badry TH, El-Kamah GY, El-Darouti M, Matsumoto N
  • Journal Title: Am J Med Genet A Volume: 155A(11):2885-2896 Issue: 11 Pages: 2885-2896
  • DOI: 10.1002/ajmg.a.34299
  • Peer Reviewed
• [Journal Article] Two novel CHN1 mutations in 2 families with Duane retraction syndrome (2011)
  • Author(s): Chan WM^<#>, Miyake N^<#> (# denotes equal contribution), Zhu-Tam L, Andrews C, Engle EC
  • Journal Title: Arch Ophthalmol Volume: 129(5):649-52 Issue: 5 Pages: 649-649
  • DOI: 10.1001/archophthalmol.2011.84
  • Peer Reviewed
• [Journal Article] A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia (2011)
  • Author(s): Dai J, Kim OH, Cho TJ, Miyake N, Song HR, Karasugi T, Sakazume S, Ikema M, Matsui Y, Nagai T, Matsumoto N, Ohashi H, Kamatani N, Nishimura G, Furuichi T, Takahashi A, Ikegawa S
  • Journal Title: J Hum Genet Volume: 56(5):398-400 Issue: 5 Pages: 398-400
  • DOI: 10.1038/jhg.2011.28
  • NAID: 10030659461
  • Peer Reviewed
• [Journal Article] Delineation of dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome: observation of two additional patients and comprehensive review of 20 reported patients (2011)
  • Author(s): Shimizu K, Okamoto N, Miyake N, Taira K, Sato Y, Matsuda K, Akimaru N, Ohashi H, Wakui K, Fukushima Y, Matsumoto N, Kosho T
  • Journal Title: Am J Med Genet A. Volume: 155A(8):1949-1958
  • Peer Reviewed
• [Journal Article] Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. (2011)
  • Author(s): Saitsu H. et al.
  • Journal Title: Am J Hum Genet. Volume: 89 Issue: 5 Pages: 644-651
  • DOI: 10.1016/j.ajhg.2011.10.003
  • Peer Reviewed
• [Journal Article] Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation (2011)
  • Author(s): Doi H, Yoshida K, Yasuda T, Fukuda M, Fukuda Y, Morita H, et al
  • Journal Title: Am J Hum Genet Volume: 89 Issue: 2 Pages: 320-327
  • DOI: 10.1016/j.ajhg.2011.07.012
  • Peer Reviewed
• [Journal Article] Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy (2011)
  • Author(s): Saitsu, et al
  • Journal Title: Am J Hum Genet Volume: 89 Pages: 644-651
  • Peer Reviewed
• [Journal Article] Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation (2011)
  • Author(s): Doi, et al
  • Journal Title: Am J Hum Genet Volume: 89 Pages: 320-327
  • Peer Reviewed
• [Journal Article] Exome sequencing of two patients in a family with atypical X-linked leukodystrophy (2011)
  • Author(s): Tsurusaki Y, Okamoto N, Suzuki Y, Doi H, Saitsu H, Miyake N, Matsumoto N
  • Journal Title: Clin Genet Volume: 80巻 Issue: 2 Pages: 161-166
  • DOI: 10.1111/j.1399-0004.2011.01721.x
  • Peer Reviewed
• [Journal Article] Rapid detection of a mutation causing X-linked leucoencephal opathy by exome sequencing (2011)
  • Author(s): Tsurusaki Y, et al
  • Journal Title: J Med Genet Volume: 606 Pages: 606-609
  • Peer Reviewed
• [Journal Article] Delineation of dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome : observation of two additional patients and comprehensive review of 20 reported patients (2011)
  • Author(s): Shimizu K, Okamoto N, Miyake N, Taira K, Sato Y, Matsuda K, Akimaru N, Ohashi H, Wakui K, Fukushima Y, Matsumoto N, Kosho T
  • Journal Title: Am J Med Genet A Volume: 155A Issue: 8 Pages: 949-1958
  • DOI: 10.1002/ajmg.a.34115
  • Peer Reviewed
• [Journal Article] Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome (2011)
  • Author(s): Hannibal, et al
  • Journal Title: Am J Med Genet A Volume: 115A(7) Issue: 7 Pages: 1511-1516
  • DOI: 10.1002/ajmg.a.34074
  • Peer Reviewed
• [Journal Article] De novo 19q13.42 duplications involving NLRP gene cluster in a patient with systemic-onset juvenile idiopathic arthritis (2011)
  • Author(s): Tadaki H, et al
  • Journal Title: J Hum Genet Volume: 56 Pages: 343-347
  • Peer Reviewed
• [Journal Article] Exonic deletion of CASP10 in a patient presenting with systemic juvenile idiopathic arthritis, but not with autoimmune lymphoproliferative syndrome type IIa (2011)
  • Author(s): Tadaki H, Saitsu H, Kanegane H, Miyake N, Imagawa T, Kikuchi M, Hara R, Kaneko U, Kishi T, Miyamae T, Nishimura A, Doi H, Tsurusaki Y, Sakai H, Yokota S, Matsumoto N
  • Journal Title: Int J Immunogenet Volume: 38巻 Issue: 4 Pages: 287-293
  • DOI: 10.1111/j.1744-313x.2011.01005.x
  • Peer Reviewed
• [Journal Article] A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia (2011)
  • Author(s): Dai J, et al
  • Journal Title: J Hum Genet Volume: 56 Pages: 398-400
  • Peer Reviewed
• [Journal Article] A girl with early-onset epileptic encephalopathy associated with microdeletion involving CDKL5 (2011)
  • Author(s): Saitsu H, et al
  • Journal Title: Brain Dev Volume: 34 Pages: 364-367
  • Peer Reviewed
• [Journal Article] Hypothalamic pituitary complications in Kabuki syndrome (2011)
  • Author(s): Ito N, et al
  • Journal Title: Pituitary Volume: (印刷中)
  • Peer Reviewed
• [Presentation] X連鎖性を疑われたがミトコンドリア遺伝病であった一難聴家系の解析 (2012)
  • Author(s): 三宅紀子、鶴崎美徳、Desheng Liang、Lingqian Wu、松本直通
  • Organizer: 人類遺伝学会第57回大会・一般口演・臨床遺伝学3
  • Place of Presentation: 日京王プラザホテル(東京)
  • Year and Date: 2012-10-27
• [Presentation] CHST14 mutations in Ehlers-Danlos syndrome (2011)
  • Author(s): Noriko Miyake, Tomoki Kosho, Shuji Mizumoto, Tatsuya Furuichi, Atsushi Hatamochi, Shiro Ikegawa, Shuhei Yamada, Kazuyuki Sugahara, Naomichi Matsumoto
  • Organizer: The 11th East Asia Union of Human Genetics Annual meeting (oral oresentation)
  • Place of Presentation: 幕張メッセ (千葉県)
  • Year and Date: 2011-11-10
• [Presentation] 新型 Ehlers-Danlos 症候群(D4ST1 欠損症)の遺伝学的検索 (2011)
  • Author(s): 三宅紀子、古庄知己、水本秀二、松本直通
  • Organizer: 日本人類遺伝学会第56回大会(一般口演)
  • Place of Presentation: 幕張メッセ (千葉県)
  • Year and Date: 2011-11-10
• [Presentation] CHST14 mutations in Ehlers-Danlos syndrome (2011)
  • Author(s): Noriko Miyake
  • Organizer: The 11^<th> East Asia Union of Human Genetics Annual meeting
  • Place of Presentation: 幕張メッセ(千葉県)
  • Year and Date: 2011-11-10
• [Presentation] 新型Ehlers-Danlos症候群(D4ST1欠損症)の遺伝学的検索 (2011)
  • Author(s): 三宅紀子
  • Organizer: 日本人類遺伝学会第56回大会
  • Place of Presentation: 幕張メッセ(千葉県)
  • Year and Date: 2011-11-10
• [Presentation] Loss-of-function mutations of CHST14 cause a new type of autosomal recessive Ehlers-Danlos syndrome (2011)
  • Author(s): Noriko Miyake, Tomoki Kosho, Shuji Mizumoto, Tatsuya Furuichi, Atsushi Hatamochi, Shiro Ikegawa, Shuhei Yamada, Kazuyuki Sugahara, Naomichi Matsumoto
  • Organizer: Europian Human Genetics Conference 2011 (poster session)
  • Place of Presentation: Amsterdam, The Netherlands
  • Year and Date: 2011-05-30
• [Presentation] Loss-of-function mutations of CHST14 cause a new type of autosomal recessive Ehlers-Danlos syndrome (2011)
  • Author(s): Noriko Miyake
  • Organizer: Europian Human Genetics Conference 2011
  • Place of Presentation: オランダ・アムステルダム
  • Year and Date: 2011-05-30
• [Presentation] X連鎖性を疑われたがミトコンドリア遺伝病であった一難聴家系の解析
  • Author(s): 三宅紀子
  • Organizer: 人類遺伝学会第57回大会
  • Place of Presentation: 京王プラザホテル (東京都）
• [Remarks]
  • URL: http://www.yokohama-cu.ac.jp/univ/pr/press/120314_amedrc.html
• [Patent(Industrial Property Rights)] ミトコンドリア複合体 III 欠乏症の確定診断法 (2012)
  • Inventor(s): 松本直通/三宅紀子
  • Industrial Property Rights Holder: 横浜市立大学
  • Filing Date: 2012-08-16
• [Patent(Industrial Property Rights)] コフィン-シリス症候群の検出方法 (2012)
  • Inventor(s): 松本直通/鶴崎美徳/三宅紀子
  • Industrial Property Rights Holder: 横浜市立大学
  • Filing Date: 2012-01-04
• [Patent(Industrial Property Rights)] コフィン－シリス症候群の検出方法 (2012)
  • Inventor(s): 松本直通／鶴崎美徳／三宅紀子
  • Industrial Property Rights Holder: 松本直通／鶴崎美徳／三宅紀子
  • Industrial Property Rights Type: 特許
  • Filing Date: 2012-12-20
• [Patent(Industrial Property Rights)] ミトコンドリア複合体III欠乏症の確定診断法 (2012)
  • Inventor(s): 松本直通／三宅紀子
  • Industrial Property Rights Holder: 松本直通／三宅紀子
  • Industrial Property Rights Type: 特許
  • Industrial Property Number: 2012-180356
  • Filing Date: 2012-08-16
• [Patent(Industrial Property Rights)] コフインーシリス症候群の検出方法 (2012)
  • Inventor(s): 松本直通/鶴崎美徳/三宅紀子
  • Industrial Property Rights Holder: 公立大学法人横浜市立大学
  • Industrial Property Number: 2012-000136
  • Filing Date: 2012-01-04