matsura toru

FacultyInternalMedicineNeurology
Job titleProfessorWeb site

Profile

Research Areas

  • Biological science / Molecular biology
  • Basic medicine / Human genetics
  • Clinical internal medicine / Neurology

Career

  • 1998
    - Postdoctoral Fellow, Neurology, Baylor College of Medicine
  • 2000
    - Instructor, Neurology, Baylor College of Medicine
  • 2002
    - Assistant Professor, Molecular and Human Genetics, Baylor College of Medicine

Academic Societies

  • American Society of Human Genetics (ASHG)
  • The Society for Neuroscience (SFN)
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Academic Societiesclose
  • American Society of Human Genetics (ASHG)
  • The Society for Neuroscience (SFN)

Research Activities

Papers(other)

  • Ancestral Origin of the ATTCT Repeat Expansion in Spinocerebellar Ataxia Type 10 (SCA10).
    PLoS One in press 2009
  • Myotonic dystrophy type 2 in Japan: ancestral origin distinct from Caucasian families.
    Neurogenetics 9 61-63 2008
  • Instability of expanded CAG/CAA repeats in spinocerebellar ataxia type 17.
    Eur J Hum Genet 16 215-222 2008
  • Long-range PCR for the diagnosis of spinocerebellar ataxia type 10.
    Neurogenetics 9 151-152 2008
  • Human branch point consensus sequence is yUnAy.
    Nucleic Acids Research 36(7) 2257-2267 2008
  • HnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome.
    Hum Mol Genet in press. 2008
  • The ATTCT repeats of spinocerebellar ataxia type 10 display strong nucleosome assembly which is enhanced by repeat interruptions.
    Gene in press. 2008
  • Thermodynamic instability of siRNA duplex is a prerequisite for dependable prediction of siRNA activities.
    Nucleic Acids Research 35 e123 2007
  • In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5' splice sites.
    Nucleic Acids Research 35(18) 5995-6003 2007
  • Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10. Repeat purity as a disease modifier?
    Am J Hum Genet 78(1) 125-129 2006
Display all
Papers(other)close
  • Ancestral Origin of the ATTCT Repeat Expansion in Spinocerebellar Ataxia Type 10 (SCA10).
    PLoS One in press 2009
  • Myotonic dystrophy type 2 in Japan: ancestral origin distinct from Caucasian families.
    Neurogenetics 9 61-63 2008
  • Instability of expanded CAG/CAA repeats in spinocerebellar ataxia type 17.
    Eur J Hum Genet 16 215-222 2008
  • Long-range PCR for the diagnosis of spinocerebellar ataxia type 10.
    Neurogenetics 9 151-152 2008
  • Human branch point consensus sequence is yUnAy.
    Nucleic Acids Research 36(7) 2257-2267 2008
  • HnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome.
    Hum Mol Genet in press. 2008
  • The ATTCT repeats of spinocerebellar ataxia type 10 display strong nucleosome assembly which is enhanced by repeat interruptions.
    Gene in press. 2008
  • Thermodynamic instability of siRNA duplex is a prerequisite for dependable prediction of siRNA activities.
    Nucleic Acids Research 35 e123 2007
  • In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5' splice sites.
    Nucleic Acids Research 35(18) 5995-6003 2007
  • Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10. Repeat purity as a disease modifier?
    Am J Hum Genet 78(1) 125-129 2006
  • Reduced penetrance of intermediate size alleles in spinocerebellar ataxia type 10.
    Neurology 66 1602-1604 2006
  • The role of ataxin 10 in spinocerebellar ataxia type 10 pathogenesis.
    Neurology 67 607-613 2006
  • FXTAS, SCA10, and SCA17 in American patients with movement disorders.
    Am J Med Genet A. 136 87-89 2005
  • A rare truncating mutation in ADH1C (G78stop) shows significant association with Parkinson’s disease in a large international sample.
    Arch Neurol 62 74-78 2005
  • Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10.
    Am J Hum Genet 74 1216-1224 2004
  • Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20.
    Brain 127 1172-1181 2004
  • Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay.
    J Mol Diag 6 96-100 2004
  • Neurophysiological findings in SPG4 are variable, dependent on the type of spastin mutation.
    Neurology e-letters 2003
  • Huntington’s disease-like 2 can present as chorea-acanthocytosis.
    Neurology 61 1002-1004 2003
  • Spinocerebellar ataxia type 15 (SCA15) maps to 3p24.2-3pter: exclusion of the ITPR1 gene, the human orthologue of an ataxic mouse mutant.
    Neurobiol Dis 13 147-157 2003
  • Unpaired Structures in SCA10 (ATTCT)(n).(AGAAT)(n) Repeats.
    J Mol Biol 326(4) 1095-1111 2003
  • Polymerase chain reaction amplification of expanded ATTCT repeat in spinocerebellar ataxia type 10.
    Ann Neurol 51 271-272 2002
  • Spinocerebellar ataxia type 10 is rare in populations other than Mexicans.
    Neurology 58 983-984 2002
  • Spinocerebellar ataxia type 10 in the French population.
    Ann Neurol 51 408-409 2002
  • Clinical features and ATTCT repeat expansion in spinocerebellar ataxia type 10.
    Arch Neurol 59 1285-1290 2002
  • Spastin gene mutation in Japanese with hereditary spastic paraplegia.
    J Med Genet 39 46 2002
  • Clinical and genetic analysis of four Mexican families with spinocerebellar ataxia type 10.
    Ann Neurol 50 234-239 2001
  • Alcohol dehydrogenase polymorphism and Parkinson's disease.
    Neurosci Lett 305 70-72 2001
  • Large expansion of ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.
    Nat Genet 26(2) 191-194 2000
  • Genetic localization of the CA2+ channel gene Cacng2 near SCA10 on chromosome 22q13.
    Epilepsia 41 24-27 2000
  • Polymorphism of NACP-Rep 1 in Parkinson’s disease: An etiologic link with essential tremor?
    Neurology 54 1195-1198 2000
  • Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies.
    Neurology 55 224-230 2000
  • A “dystrophic” variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene.
    Neurology 55 1697-1703 2000
  • Mapping of the gene for a novel spinocerebellar ataxia with pure cerebellar signs and epilepsy.
    Ann Neurol 45 407-411 1999
  • Mosaicism of unstable CAG repeats in the brain of spinocerebellar ataxia type 2.
    J Neurol 246 835-839 1999
  • Atypical MR findings in Wilson disease: marked lesions in the dentate nucleus causing tremor.
    J Neurol Neurosurg Psychiatry 64 160 1998
  • SCA6 mutation analysis in the large cohort with late-onset pure cerebellar ataxia.
    J Neurol Sci 156 89-95 1998
  • Suatained release dosage of thyrotropin-releasing hormone improves experimental Japanese encephalitis virus-induced parkinsonism rats.
    J Neurol Sci 159 135-139 1998
  • The reduction of androgen receptor mRNA in motoneurons of X-linked spinal and bulbar muscualr atrophy.
    J Neurol Sci 150 161-165 1997
  • Autosomal dominant spastic paraplegia linked to chromosome 2p: clinical and genetic studies of a large Japanese pedigree.
    J Neurol Sci 151 65-70 1997
  • CAG repeat expansion of Machado-Joseph disease in the Japanese: analysis of the repeat instability for parental transmission, and correlation with disease phenotype.
    J Neurol Sci 133 28-133 1995
  • Unusual complications caused by endo-clip migration following a laparoscopic cholecystectomy: report of a case.
    Surg Today 24(4) 360-362 1994
  • Expression of androgen receptor in X-linked spinal and bulbar muscular atrophy and amyotrophic lateral sclerosis.
    J Neurol Neurosurg Psychiatry 57 1274-1275 1994
  • Identification of androgen receptor in the rat spinal motoneurons, immunohistochemical and immunoblotting analyses with monoclonal antibody.
    Neurosci Lett 158(1) 5-8 1993
  • Migartion of “endo-clips” into common bile duct after laparoscopic cholecystectomy.
    Lancet 340 306 1992
  • Minocycline-related lupus
    Lancet 340 1553 1992
  • Androgen receptor abnormality in X-linked spinal and bulbar muscular atrophy.
    Neurology 42 1724-1726 1992
  • A case of Kennedy-Alter-Sung syndrome with type IIa hyperlipidemia. (*corresponding author); Study on sex hormone receptor and lipid metabolism.
    31 291-295 1991

Book

  • SCA10の分子遺伝学.
    神経研究の進歩 2006
  • 非翻訳領域リピート病のRNA病態.
    Medical Science Digest 2006
  • Spinocerebellar Ataxia Type 10 in: GeneReviews at GeneTests: Medical Genetics Information Resource.
    Copyright, University of Washington, Seattle. 1997-2006. Available at http://www.genetests.org. 2006
  • Spinocerebellar Ataxia Type 10 in: /GeneReviews /at GeneTests: Medical Genetics Information Resource.
    Copyright, University of Washington, Seattle. 1997-2004. Available at www.genetests.org . 2004
  • Spinocerebellar Ataxia Type 10 in: /GeneReviews /at GeneTests: Medical Genetics Information Resource.
    Copyright, University of Washington, Seattle. 1997-2002. Available at www.genetests.org . 2002
  • Spinocerebellar Ataxia Type 10: A Disease Caused by a Large ATTCT Repeat Expansion. In: Trinucleotide Expansions and Human Diseases.
    Timchenko L ed. Landes Bioscience, Georgetown 2002
  • Spinocerebellar ataxia type 10: a disease caused by a large ATTCT repeat expansion.
    Adv Exp Med Biol 2002
  • SCA10遺伝子の同定―新しいリピート (pentanucleotide repeat) 病.
    臨床神経学 2001
  • Spinocerebellar ataxia type 10. In: Genetics of Movement Disorders.
    Pulst SM ed. Academic Press, San Diego 2001
  • A glycoprotein detected with peanut agglutin: a specific marker of myelin and human lymphocyte lines. In: Japan intractable diseases research foundation publication No.26 Neuroimmunological diseases, recent in pathogenesis and treatment
    Igata A ed., University of Tokyo Press, Tokyo 1989
Display all
Bookclose
  • SCA10の分子遺伝学.
    神経研究の進歩 2006
  • 非翻訳領域リピート病のRNA病態.
    Medical Science Digest 2006
  • Spinocerebellar Ataxia Type 10 in: GeneReviews at GeneTests: Medical Genetics Information Resource.
    Copyright, University of Washington, Seattle. 1997-2006. Available at http://www.genetests.org. 2006
  • Spinocerebellar Ataxia Type 10 in: /GeneReviews /at GeneTests: Medical Genetics Information Resource.
    Copyright, University of Washington, Seattle. 1997-2004. Available at www.genetests.org . 2004
  • Spinocerebellar Ataxia Type 10 in: /GeneReviews /at GeneTests: Medical Genetics Information Resource.
    Copyright, University of Washington, Seattle. 1997-2002. Available at www.genetests.org . 2002
  • Spinocerebellar Ataxia Type 10: A Disease Caused by a Large ATTCT Repeat Expansion. In: Trinucleotide Expansions and Human Diseases.
    Timchenko L ed. Landes Bioscience, Georgetown 2002
  • Spinocerebellar ataxia type 10: a disease caused by a large ATTCT repeat expansion.
    Adv Exp Med Biol 2002
  • SCA10遺伝子の同定―新しいリピート (pentanucleotide repeat) 病.
    臨床神経学 2001
  • Spinocerebellar ataxia type 10. In: Genetics of Movement Disorders.
    Pulst SM ed. Academic Press, San Diego 2001
  • A glycoprotein detected with peanut agglutin: a specific marker of myelin and human lymphocyte lines. In: Japan intractable diseases research foundation publication No.26 Neuroimmunological diseases, recent in pathogenesis and treatment
    Igata A ed., University of Tokyo Press, Tokyo 1989

Prize

  • 2003 Young Investigator Award, National Ataxia Foundation,
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Prizeclose
  • 2003 Young Investigator Award, National Ataxia Foundation,

Industrial Property Rights

  • DNA TEST FOR SCA-10

Works

  • Research Grants from National Ataxia Foundation, MN, USA ($25,000) “The role of interruptions in SCA10 expansion and disease”
    2005-2005
  • Research Grants (Olivopontocerebellar atrophy and related disorders) from NORD ($40,000) “Characterization of the SCA10 ATTCT Expansion and Implications of the Sequence Configurations”
    2005-2005
  • Young Investigator Award from National Ataxia Foundation, MN, USA  ($100,000) “RNA disease mechanism in spinocerebellar ataxia type 10”
    2003-2004
  • Research Grants (Olivopontocerebellar atrophy and related disorders) from National Organization for Rare Disorders (NORD), CT, USA ($40,000) “Complete survey of SCA10 mutation in multiethnic ataxia patients”
    2003-2004
  • Research Grants from National Ataxia Foundation, MN, USA ($30,000) “Search for an expansion mutation of ATTCT/AGAAT repeats in unassigned ataxia patients”
    2002-2002
  • Research Grants from National Ataxia Foundation, MN, USA ($10,000) “Instability of the expanded SCA10 ATTCT pentanucleotide repeat ”
    2001-2001
Display all
Worksclose
  • Research Grants from National Ataxia Foundation, MN, USA ($25,000) “The role of interruptions in SCA10 expansion and disease”
    2005-2005
  • Research Grants (Olivopontocerebellar atrophy and related disorders) from NORD ($40,000) “Characterization of the SCA10 ATTCT Expansion and Implications of the Sequence Configurations”
    2005-2005
  • Young Investigator Award from National Ataxia Foundation, MN, USA  ($100,000) “RNA disease mechanism in spinocerebellar ataxia type 10”
    2003-2004
  • Research Grants (Olivopontocerebellar atrophy and related disorders) from National Organization for Rare Disorders (NORD), CT, USA ($40,000) “Complete survey of SCA10 mutation in multiethnic ataxia patients”
    2003-2004
  • Research Grants from National Ataxia Foundation, MN, USA ($30,000) “Search for an expansion mutation of ATTCT/AGAAT repeats in unassigned ataxia patients”
    2002-2002
  • Research Grants from National Ataxia Foundation, MN, USA ($10,000) “Instability of the expanded SCA10 ATTCT pentanucleotide repeat ”
    2001-2001


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