Takuya Naruto

Takuya Naruto

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Takuya Naruto

Publications by authors named "Takuya Naruto"

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Novel compound heterozygous variants in a patient with Usher syndrome type I.

Hum Genome Var 2019 28;6. Epub 2019 Jan 28.

4Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, Japan.

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http://www.nature.com/articles/s41439-019-0037-y
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http://dx.doi.org/10.1038/s41439-019-0037-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6348282PMC
January 2019

CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability.

Eur J Med Genet 2018 Dec 30. Epub 2018 Dec 30.

Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183015
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http://dx.doi.org/10.1016/j.ejmg.2018.12.015DOI Listing
December 2018

Evaluation of a patient with classical Ehlers-Danlos syndrome due to a 9q34 duplication affecting COL5A1.

Congenit Anom (Kyoto) 2018 Nov 25;58(6):191-193. Epub 2018 Mar 25.

Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.

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http://doi.wiley.com/10.1111/cga.12277
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http://dx.doi.org/10.1111/cga.12277DOI Listing
November 2018

Familial total anomalous pulmonary venous return with 15q11.2 (BP1-BP2) microdeletion.

J Hum Genet 2018 Nov 14;63(11):1185-1188. Epub 2018 Aug 14.

Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.

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http://dx.doi.org/10.1038/s10038-018-0499-7DOI Listing
November 2018

Status of KRAS in iPSCs Impacts upon Self-Renewal and Differentiation Propensity.

Stem Cell Reports 2018 08 5;11(2):380-394. Epub 2018 Jul 5.

Division of Stem Cell Processing/Stem Cell Bank, Center for Stem Cell Biology and Regenerative Medicine, The Institute of Medical Science, The University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo 108-8639, Japan.

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http://dx.doi.org/10.1016/j.stemcr.2018.06.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6092694PMC
August 2018

Nonsyndromic intellectual disability with novel heterozygous mutation and epilepsy.

Hum Genome Var 2018 20;5:20. Epub 2018 Jul 20.

1Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.

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http://dx.doi.org/10.1038/s41439-018-0019-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6054605PMC
July 2018

Primary microcephaly caused by novel compound heterozygous mutations in .

Hum Genome Var 2018 5;5:18015. Epub 2018 Apr 5.

Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, Japan.

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http://dx.doi.org/10.1038/hgv.2018.15DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5885039PMC
April 2018

A rare male patient with classic Rett syndrome caused by MeCP2_e1 mutation.

Am J Med Genet A 2018 03 17;176(3):699-702. Epub 2018 Jan 17.

Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, Japan.

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http://dx.doi.org/10.1002/ajmg.a.38595DOI Listing
March 2018

Frequent silencing of RASSF1A by DNA methylation in thymic neuroendocrine tumours.

Lung Cancer 2017 09 25;111:116-123. Epub 2017 May 25.

Department of Oncological Medical Services, Graduate School of Biomedical Sciences, Tokushima University Graduate School, Tokushima city 770-8503, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.lungcan.2017.05.019DOI Listing
September 2017

Novel compound heterozygous mutations in intermediate autosomal recessive osteopetrosis.

Hum Genome Var 2017 17;4:17036. Epub 2017 Aug 17.

Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, Japan.

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http://www.nature.com/articles/hgv201736
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http://dx.doi.org/10.1038/hgv.2017.36DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5559424PMC
August 2017

Targeted exome sequencing and chromosomal microarray for the molecular diagnosis of nevoid basal cell carcinoma syndrome.

J Dermatol Sci 2017 Jun 11;86(3):206-211. Epub 2017 Mar 11.

Department of Dermatology, Tokushima University Graduate School of Medical Science, Tokushima, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.jdermsci.2017.02.282DOI Listing
June 2017

A novel mutation causes X-linked intellectual disability type Nascimento.

Hum Genome Var 2017 8;4:17019. Epub 2017 Jun 8.

Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.

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http://dx.doi.org/10.1038/hgv.2017.19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5462939PMC
June 2017

Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia.

J Neurol Sci 2017 May 1;376:7-12. Epub 2017 Mar 1.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

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http://dx.doi.org/10.1016/j.jns.2017.02.065DOI Listing
May 2017

A 590 kb deletion caused by non-allelic homologous recombination between two LINE-1 elements in a patient with mesomelia-synostosis syndrome.

Am J Med Genet A 2017 Apr;173(4):1082-1086

Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, Japan.

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http://dx.doi.org/10.1002/ajmg.a.38122DOI Listing
April 2017

Genome-first approach diagnosed Cabezas syndrome via novel mutation detection.

Hum Genome Var 2017 19;4:16045. Epub 2017 Jan 19.

Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University , Tokushima, Japan.

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http://dx.doi.org/10.1038/hgv.2016.45DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5243919PMC
January 2017

Novel human mutation and CRISPR/Cas genome-edited mice reveal the importance of C-terminal domain of MSX1 in tooth and palate development.

Sci Rep 2016 12 5;6:38398. Epub 2016 Dec 5.

Department of Orthodontics and Dentofacial Orthopedics, Institute of Biomedical Sciences, Tokushima University Graduate School, 3-18-15 Kuramoto-cho, Tokushima 770-8504, Japan.

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http://dx.doi.org/10.1038/srep38398DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5137164PMC
December 2016

Exome-first approach identified a novel gloss deletion associated with Lowe syndrome.

Hum Genome Var 2016 10;3:16037. Epub 2016 Nov 10.

Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, Japan; Support Center for Advanced Medical Sciences, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, Japan.

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http://dx.doi.org/10.1038/hgv.2016.37DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5103007PMC
November 2016

A novel missense mutation of COL5A2 in a patient with Ehlers-Danlos syndrome.

Hum Genome Var 2016 15;3:16030. Epub 2016 Sep 15.

Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University , Tokushima, Japan.

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http://dx.doi.org/10.1038/hgv.2016.30DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5023785PMC
September 2016

Detection of 1p36 deletion by clinical exome-first diagnostic approach.

Hum Genome Var 2016 12;3:16006. Epub 2016 May 12.

Department of Human Genetics, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan.

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http://dx.doi.org/10.1038/hgv.2016.6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5381605PMC
May 2016

A novel PTCH1 mutation in a patient with Gorlin syndrome.

Hum Genome Var 2014 13;1:14022. Epub 2014 Nov 13.

Department of Human Genetics, Institute of Health Biosciences, The University of Tokushima Graduate School , Tokushima, Japan.

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http://dx.doi.org/10.1038/hgv.2014.22DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785514PMC
April 2016

A FRMD7 variant in a Japanese family causes congenital nystagmus.

Hum Genome Var 2015 12;2:15002. Epub 2015 Feb 12.

Department of Human Genetics, Institute of Health Biosciences, The University of Tokushima Graduate School , Tokushima, Japan.

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http://dx.doi.org/10.1038/hgv.2015.2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785577PMC
April 2016

A novel COL11A1 mutation affecting splicing in a patient with Stickler syndrome.

Hum Genome Var 2015 12;2:15043. Epub 2015 Nov 12.

Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health , Osaka, Japan.

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http://dx.doi.org/10.1038/hgv.2015.43DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785552PMC
April 2016

A novel COL11A1 missense mutation in siblings with non-ocular Stickler syndrome.

Hum Genome Var 2016 7;3:16003. Epub 2016 Apr 7.

Department of Human Genetics, Institute of Biomedical Sciences, Tokushima University Graduate School , Tokushima, Japan.

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http://dx.doi.org/10.1038/hgv.2016.3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4823386PMC
April 2016

A novel frameshift mutation of CHD7 in a Japanese patient with CHARGE syndrome.

Hum Genome Var 2016 7;3:16004. Epub 2016 Apr 7.

Department of Human Genetics, Institute of Biomedical Sciences, Tokushima University Graduate School , Tokushima, Japan.

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http://dx.doi.org/10.1038/hgv.2016.4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4823376PMC
April 2016

A unique TBX5 microdeletion with microinsertion detected in patient with Holt-Oram syndrome.

Am J Med Genet A 2015 Dec 28;167A(12):3192-6. Epub 2015 Sep 28.

Department of Human Genetics, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan.

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http://dx.doi.org/10.1002/ajmg.a.37359DOI Listing
December 2015

A postzygotic NRAS mutation in a patient with Schimmelpenning syndrome.

Am J Med Genet A 2015 Sep 25;167A(9):2223-5. Epub 2015 Apr 25.

Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.

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http://dx.doi.org/10.1002/ajmg.a.37135DOI Listing
September 2015

West syndrome in a patient with Schinzel-Giedion syndrome.

J Child Neurol 2015 Jun 14;30(7):932-6. Epub 2014 Jul 14.

Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan

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http://dx.doi.org/10.1177/0883073814541468DOI Listing
June 2015

Delineation of the KIAA2022 mutation phenotype: two patients with X-linked intellectual disability and distinctive features.

Am J Med Genet A 2015 Jun 21;167(6):1349-53. Epub 2015 Apr 21.

Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.

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http://dx.doi.org/10.1002/ajmg.a.37002DOI Listing
June 2015

Deep intronic GPR143 mutation in a Japanese family with ocular albinism.

Sci Rep 2015 Jun 10;5:11334. Epub 2015 Jun 10.

Department of Human Genetics, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima 770-8503, Japan.

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http://dx.doi.org/10.1038/srep11334DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4650666PMC
June 2015

Clinical Control of HIV-1 by Cytotoxic T Cells Specific for Multiple Conserved Epitopes.

J Virol 2015 May 4;89(10):5330-9. Epub 2015 Mar 4.

Center for AIDS Research, Kumamoto University, Chuo-ku, Kumamoto, Japan International Research Center for Medical Sciences, Kumamoto University, Chuo-ku, Kumamoto, Japan

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http://dx.doi.org/10.1128/JVI.00020-15DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4442500PMC
May 2015

Microdeletion of 19p13.3 in a girl with Peutz-Jeghers syndrome, intellectual disability, hypotonia, and distinctive features.

Am J Med Genet A 2015 Feb 8;167A(2):389-93. Epub 2014 Dec 8.

Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.

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http://dx.doi.org/10.1002/ajmg.a.36813DOI Listing
February 2015

Deletion of UBE3A in brothers with Angelman syndrome at the breakpoint with an inversion at 15q11.2.

Am J Med Genet A 2014 Nov 6;164A(11):2873-8. Epub 2014 Aug 6.

Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.

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http://dx.doi.org/10.1002/ajmg.a.36704DOI Listing
November 2014

Refinement of the deletion in 8q22.2-q22.3: the minimum deletion size at 8q22.3 related to intellectual disability and epilepsy.

Am J Med Genet A 2014 Aug 6;164A(8):2104-8. Epub 2014 May 6.

Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.

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http://doi.wiley.com/10.1002/ajmg.a.36604
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http://dx.doi.org/10.1002/ajmg.a.36604DOI Listing
August 2014

De novo duplication of 17p13.1-p13.2 in a patient with intellectual disability and obesity.

Am J Med Genet A 2014 Jun 25;164A(6):1550-4. Epub 2014 Mar 25.

Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.

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http://dx.doi.org/10.1002/ajmg.a.36477DOI Listing
June 2014

Functional heterogeneity of human effector CD8+ T cells.

Blood 2012 Feb 14;119(6):1390-8. Epub 2011 Dec 14.

Center for AIDS Research, Kumamoto University, Kumamoto, Japan.

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http://dx.doi.org/10.1182/blood-2011-03-343251DOI Listing
February 2012

Selection of HLA-B57-associated Gag A146P mutant by HLA-B∗48:01-restricted Gag140-147-specific CTLs in chronically HIV-1-infected Japanese.

Microbes Infect 2011 Aug 5;13(8-9):766-70. Epub 2011 Apr 5.

Center for AIDS Research, Kumamoto University, 2-2-1 Honjo, Kumamoto 860-0811, Japan.

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http://dx.doi.org/10.1016/j.micinf.2011.03.009DOI Listing
August 2011

Association of IRF5 polymorphisms with susceptibility to macrophage activation syndrome in patients with juvenile idiopathic arthritis.

J Rheumatol 2011 Apr 15;38(4):769-74. Epub 2011 Jan 15.

Department of Pediatrics, Yokohama City University Graduate School of Medicine; and the CNV Laboratory, DNA Chip Research Institute, Yokohama, Japan.

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http://dx.doi.org/10.3899/jrheum.100655DOI Listing
April 2011

Long-term control of HIV-1 in hemophiliacs carrying slow-progressing allele HLA-B*5101.

J Virol 2010 Jul 21;84(14):7151-60. Epub 2010 Apr 21.

Division of Viral Immunology, Center for AIDS Research, Kumamoto University, 2-2-1 Honjo, Kumamoto 860-0811, Japan.

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http://dx.doi.org/10.1128/JVI.00171-10DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2898248PMC
July 2010

Soluble tumor necrosis factor receptor-1 in preterm infants with chronic lung disease.

Pediatr Int 2010 Apr 7;52(2):268-72. Epub 2009 Sep 7.

Department of Pediatrics, Yokohama City University School of Medicine, Yokohama, Kanagawa, Japan.

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http://doi.wiley.com/10.1111/j.1442-200X.2009.02954.x
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http://dx.doi.org/10.1111/j.1442-200X.2009.02954.xDOI Listing
April 2010

Chemo-sensitivity in a panel of B-cell precursor acute lymphoblastic leukemia cell lines, YCUB series, derived from children.

Leuk Res 2009 Oct 20;33(10):1386-91. Epub 2009 Jan 20.

Department of Pediatrics, Yokohama City University Hospital, 3-9 Fukuura Kanazawa-ku, Yokohama 236-0044, Japan.

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http://dx.doi.org/10.1016/j.leukres.2008.12.003DOI Listing
October 2009

The role of heme oxygenase-1 in systemic-onset juvenile idiopathic arthritis.

Mod Rheumatol 2009 3;19(3):302-8. Epub 2009 Mar 3.

Department of Pediatrics, Yokohama City University School of Medicine, Kanazawa-ku, Yokohama, Kanagawa, Japan.

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http://dx.doi.org/10.1007/s10165-009-0152-6DOI Listing
October 2009

Suppressed neutrophil function in children with acute lymphoblastic leukemia.

Int J Hematol 2009 Oct 2;90(3):311-317. Epub 2009 Sep 2.

Department of Pediatrics, Yokohama City University Hospital, 3-9 Fukuura Kanazawa-ku, Yokohama, Japan.

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http://dx.doi.org/10.1007/s12185-009-0412-4DOI Listing
October 2009

Interleukin-6 inhibits early differentiation of ATDC5 chondrogenic progenitor cells.

Cytokine 2009 Aug 16;47(2):91-7. Epub 2009 Jun 16.

Department of Pediatrics, Yokohama City University School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, Kanagawa 236-0004, Japan.

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http://dx.doi.org/10.1016/j.cyto.2009.05.002DOI Listing
August 2009

Improvement of reduced serum cartilage oligomeric matrix protein levels in systemic juvenile idiopathic arthritis patients treated with the anti-interleukin-6 receptor monoclonal antibody tocilizumab.

Mod Rheumatol 2009 23;19(1):42-6. Epub 2008 Aug 23.

Department of Pediatrics, Yokohama City University School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, Kanagawa, 236-0004, Japan.

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http://dx.doi.org/10.1007/s10165-008-0115-3DOI Listing
June 2009

Methotrexate for the treatment of juvenile idiopathic arthritis: process to approval for JIA indication in Japan.

Mod Rheumatol 2009 25;19(1):1-11. Epub 2008 Sep 25.

Department of Pediatrics, Yokohama City University School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, Kanagawa, 236-0004, Japan.

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http://dx.doi.org/10.1007/s10165-008-0123-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2638602PMC
June 2009

Hyper-IgD syndrome with novel mutation in a Japanese girl.

Mod Rheumatol 2009 22;19(1):96-9. Epub 2008 Oct 22.

Department of Pediatrics, Yokohama City University School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, Kanagawa, 236-0004, Japan.

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http://dx.doi.org/10.1007/s10165-008-0130-4DOI Listing
June 2009

Soluble tumor necrosis factor receptor-I in preterm infants with chorioamnionitis.

J Obstet Gynaecol Res 2009 Apr;35(2):252-7

Maternity and Neonate Center, Yokohama City University Medical Center, Japan.

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April 2009

[MVK gene abnormality and new approach to treatment of hyper IgD syndrome and periodic fever syndrome].

Authors:
Takuya Naruto

Nihon Rinsho Meneki Gakkai Kaishi 2007 Apr;30(2):86-9

Department of Pediatrics, Yokohama City, University School of Medicine.

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April 2007

A CpG-containing oligodeoxynucleotide as an efficient adjuvant counterbalancing the Th1/Th2 immune response in diphtheria-tetanus-pertussis vaccine.

Vaccine 2005 Nov 21;23(46-47):5450-6. Epub 2005 Jun 21.

Department of Pediatrics, Yokohama City University School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, Kanagawa 236-0004, Japan.

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http://dx.doi.org/10.1016/j.vaccine.2004.09.041DOI Listing
November 2005

Dynamic movement of cytochrome c from mitochondria into cytosol and peripheral circulation in massive hepatic cell injury.

Pediatr Int 2004 Dec;46(6):685-92

Department of Pediatrics, Yokohama City University School of Medicine, Yokohama, Japan.

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http://dx.doi.org/10.1111/j.1442-200x.2004.01980.xDOI Listing
December 2004