T. Naruto

发表

Frequent silencing of the candidate tumor suppressor TRIM58 by promoter methylation in early-stage lung adenocarcinoma

Kazuya Kondo, Kiyoshi Masuda, A. Tangoku, 2016, Oncotarget.

Functional heterogeneity of human effector CD8+ T cells.

M. Takiguchi, T. Naruto, H. Takata, 2012, Blood.

Construction of a combinatorial pipeline using two somatic variant calling methods for whole exome sequence data of gastric cancer.

K. Masuda, I. Imoto, D. Ichikawa, 2017, The journal of medical investigation : JMI.

Genome-first approach diagnosed Cabezas syndrome via novel CUL4B mutation detection

K. Masuda, I. Imoto, N. Okamoto, 2017, Human Genome Variation.

Delineation of the KIAA2022 mutation phenotype: Two patients with X‐linked intellectual disability and distinctive features

Y. Kuroda, K. Kurosawa, J. Nagai, 2015, American journal of medical genetics. Part A.

Identification of target genes within an amplicon at 14q12‐q13 in esophageal squamous cell carcinoma

Y. Nakamura, J. Inazawa, I. Imoto, 2001, Genes, chromosomes & cancer.

HLA Class I-Mediated Control of HIV-1 in the Japanese Population, in Which the Protective HLA-B*57 and HLA-B*27 Alleles Are Absent

M. Carrington, S. Oka, G. Nelson, 2012, Journal of Virology.

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

K. Masuda, I. Imoto, S. Kagami, 2016, Human Genome Variation.

Toll‐Like Receptor 9 Plays a Pivotal Role in Angiotensin II–Induced Atherosclerosis

T. Akasaka, K. Masuda, I. Imoto, 2019, Journal of the American Heart Association.

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

T. Naruto, 2007, Nihon Rinsho Men'eki Gakkai kaishi = Japanese journal of clinical immunology.

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

M. Mori, S. Takei, S. Yokota, 2008, Modern rheumatology.

Hyper-IgD syndrome with novel mutation in a Japanese girl

T. Miyamae, M. Mori, S. Yokota, 2009, Modern rheumatology.

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

T. Miyamae, M. Mori, S. Yokota, 2009, Modern rheumatology.

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

T. Miyamae, M. Mori, S. Yokota, 2009, Modern rheumatology.

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

Y. Kuroda, K. Kurosawa, J. Nagai, 2015, American journal of medical genetics. Part A.

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

K. Masuda, I. Imoto, S. Kagami, 2016, Human Genome Variation.

The first Japanese patient with mandibular hypoplasia, deafness, progeroid features and lipodystrophy diagnosed via POLD1 mutation detection

K. Masuda, I. Imoto, I. Yokota, 2017, Human Genome Variation.

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

T. Miyamae, M. Mori, S. Yokota, 2009, Cytokine.

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

Y. Kuroda, K. Kurosawa, J. Nagai, 2014, American journal of medical genetics. Part A.

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

M. Minami, M. Mori, S. Yokota, 2005, Vaccine.

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

Y. Kuroda, K. Kurosawa, J. Nagai, 2018, Journal of Human Genetics.

Flow cytometric chemosensitivity assay using JC-1, a sensor of mitochondrial transmembrane potential, in acute leukemia

S. Yokota, H. Goto, R. Tanoshima, 2013, Cancer Chemotherapy and Pharmacology.

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

S. Yokota, H. Goto, R. Tanoshima, 2009, Leukemia research.

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

H. Kurahashi, K. Masuda, I. Imoto, 2015, American journal of medical genetics. Part A.

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

A. Tangoku, K. Masuda, K. Kondo, 2017, Lung cancer.

A novel UBE2A mutation causes X-linked intellectual disability type Nascimento

Y. Tsurusaki, J. Mitsui, K. Kurosawa, 2017, Human Genome Variation.

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

M. Mori, S. Yokota, T. Naruto, 2004, Pediatrics international : official journal of the Japan Pediatric Society.

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

K. Masuda, I. Imoto, S. Kagami, 2016, Human Genome Variation.

"Novel applications of DDS on infectious diseases and future prospect" Enhancement of mucosal vaccine using drug delivery systems (DDS)

S. Yokota, T. Naruto, 2006 .

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

Y. Kuroda, K. Kurosawa, J. Nagai, 2014, American journal of medical genetics. Part A.

Nonsyndromic intellectual disability with novel heterozygous SCN2A mutation and epilepsy

Y. Tsurusaki, K. Kurosawa, Takayuki Yokoi, 2018, Human Genome Variation.

Simultaneous Detection of Both Single Nucleotide Variations and Copy Number Alterations by Next-Generation Sequencing in Gorlin Syndrome

J. Inazawa, K. Masuda, I. Imoto, 2015, PloS one.

Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation DNA sequencing

M. Suyama, O. Ohara, Y. Kuroki, 2022, bioRxiv.

Kawasaki disease without changes in inflammatory biomarkers: A case report

Yoshifusa Abe, T. Kanazawa, T. Naruto, 2022, World journal of clinical cases.

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

K. Masuda, I. Imoto, N. Okamoto, 2015, Human Genome Variation.

Selective insufficiency of IFN‐γ secretion in patients with hyper‐IgE syndrome

M. Mori, Y. Aihara, S. Yokota, 2003 .

Selective insufficiency of IFN-gamma secretion in patients with hyper-IgE syndrome.

M. Mori, Y. Aihara, S. Yokota, 2003, Allergy.

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

T. Morio, M. Takagi, M. Nakanishi, 2018, Stem cell reports.

A postzygotic NRAS mutation in a patient with Schimmelpenning syndrome

Yukichi Tanaka, N. Okamoto, T. Niihori, 2015, American journal of medical genetics. Part A.

Suppressed neutrophil function in children with acute lymphoblastic leukemia

S. Yokota, H. Goto, T. Naruto, 2009, International journal of hematology.

Deep intronic GPR143 mutation in a Japanese family with ocular albinism

K. Masuda, I. Imoto, N. Okamoto, 2015, Scientific Reports.

Somatic mosaicism of a heterogeneous mutation of ACTA1 in nemaline myopathy

K. Kurosawa, Takayuki Yokoi, Yumi Enomoto, 2019, Pediatrics international : official journal of the Japan Pediatric Society.

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

K. Masuda, I. Imoto, S. Oyadomari, 2016, Scientific Reports.

Genomics analysis of leukaemia predisposition in X‐linked agammaglobulinaemia

O. Ohara, M. V. van Zelm, H. Kanegane, 2021, British journal of haematology.

West Syndrome in a Patient With Schinzel-Giedion Syndrome

Y. Kuroda, K. Kurosawa, T. Naruto, 2015, Journal of child neurology.

A severe form of Ellis-van Creveld syndrome caused by novel mutations in EVC2

Y. Tsurusaki, Y. Kuroda, G. Nishimura, 2019, Human Genome Variation.

Prevalence of pathogenic germline variants detected by multigene sequencing in unselected Japanese patients with ovarian cancer

H. Tsuda, K. Masuda, I. Imoto, 2017, Oncotarget.

Divergent variant patterns among 19 patients with Rubinstein‐Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing

Y. Tsurusaki, J. Mitsui, Y. Kuroda, 2021, Clinical genetics.

Complex congenital cardiovascular anomaly in a patient with AGO1‐associated disorder

K. Kurosawa, Yumi Enomoto, T. Naruto, 2022, American journal of medical genetics. Part A.

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

K. Masuda, I. Imoto, T. Naruto, 2017, American journal of medical genetics. Part A.

A case with concurrent duplication, triplication, and uniparental isodisomy at 1q42.12-qter supporting microhomology-mediated break-induced replication model for replicative rearrangements

H. Kurahashi, K. Masuda, I. Imoto, 2017, Molecular Cytogenetics.

Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome

K. Kosaki, Y. Kuroki, Y. Tsurusaki, 2020, American journal of medical genetics. Part A.

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

N. Matsumoto, H. Osaka, Toshifumi Suzuki, 2017, Journal of the Neurological Sciences.

Long-Term Control of HIV-1 in Hemophiliacs Carrying Slow-Progressing Allele HLA-B*5101

P. Goulder, S. Oka, H. Gatanaga, 2010, Journal of Virology.

Host-Specific Adaptation of HIV-1 Subtype B in the Japanese Population

M. John, S. Mallal, J. Carlson, 2014, Journal of Virology.

Autosomal recessive complete STAT1 deficiency caused by compound heterozygous intronic mutations.

J. Casanova, O. Ohara, T. Morio, 2020, International immunology.

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

S. Oka, M. Koyanagi, H. Gatanaga, 2011, Microbes and infection.

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

S. Oka, M. Koyanagi, H. Gatanaga, 2015, Journal of Virology.

Association of IRF5 Polymorphisms with Susceptibility to Macrophage Activation Syndrome in Patients with Juvenile Idiopathic Arthritis

Hidenori Sato, T. Miyamae, M. Mori, 2011, The Journal of Rheumatology.

Unbiased Analysis of TCRα/β Chains at the Single-Cell Level in Human CD8+ T-Cell Subsets

M. Saito, T. Ozawa, H. Kishi, 2012, PloS one.

Influence of CYP3A5 and ABCB1 gene polymorphisms on calcineurin inhibitor‐related neurotoxicity after hematopoietic stem cell transplantation

K. Kosaki, S. Yokota, H. Goto, 2010, Clinical transplantation.

Tumor-promoting function and prognostic significance of the RNA-binding protein T-cell intracellular antigen-1 in esophageal squamous cell carcinoma

K. Masuda, I. Imoto, D. Ichikawa, 2016, Oncotarget.

PADI4 and the HLA-DRB1 shared epitope in juvenile idiopathic arthritis

T. Miyamae, M. Mori, S. Yokota, 2017, PloS one.

HIV-1 Control by NK Cells via Reduced Interaction between KIR2DL2 and HLA-C∗12:02/C∗14:03.

M. Carrington, Y. Qi, S. Oka, 2016, Cell reports.

Biallelic mutations of EGFR in a compound heterozygous state cause ectodermal dysplasia with severe skin defects and gastrointestinal dysfunction

Y. Tsurusaki, K. Kurosawa, Takayuki Yokoi, 2018, Human Genome Variation.

Influence of polymorphisms within the methotrexate pathway genes on the toxicity and efficacy of methotrexate in patients with juvenile idiopathic arthritis.

S. Morita, T. Miyamae, M. Mori, 2011, British journal of clinical pharmacology.

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

K. Masuda, I. Imoto, S. Kagami, 2018, American journal of medical genetics. Part A.

Novel CLCN7 compound heterozygous mutations in intermediate autosomal recessive osteopetrosis

T. Komori, K. Masuda, I. Imoto, 2017, Human Genome Variation.

APRIL-dependent life-long plasmacyte maintenance and immunoglobulin production in humans.

H. Kanegane, T. Morio, Likun Du, 2020, The Journal of allergy and clinical immunology.

Influence of pre-hydration and pharmacogenetics on plasma methotrexate concentration and renal dysfunction following high-dose methotrexate therapy

M. Mori, T. Kaneko, S. Yokota, 2013, International Journal of Hematology.

A deep intronic mutation of c.1166-285 T > G in SLC46A1 is shared by four unrelated Japanese patients with hereditary folate malabsorption (HFM).

O. Ohara, M. Yamada, T. Ariga, 2019, Clinical immunology.

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

S. Tsuji, S. Morishita, Y. Tsurusaki, 2018, European journal of medical genetics.

KH-type splicing regulatory protein is involved in esophageal squamous cell carcinoma progression

A. Tangoku, K. Masuda, I. Imoto, 2017, Oncotarget.

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

Y. Kuroda, K. Kurosawa, J. Nagai, 2018, Congenital Anomalies.

A case with concurrent duplication, triplication, and uniparental isodisomy at 1q42.12-qter supporting microhomology-mediated break-induced replication model for replicative rearrangements

H. Kurahashi, K. Masuda, I. Imoto, 2017, Molecular Cytogenetics.

High‐throughput analysis revealed the unique immunoglobulin gene rearrangements in plasmacytoma‐like post‐transplant lymphoproliferative disorder

H. Kanegane, T. Morio, M. Takagi, 2020, British journal of haematology.

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

T. Morio, K. Masuda, I. Imoto, 2016, Human Genome Variation.

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

Y. Kuroda, K. Kurosawa, J. Nagai, 2018, Journal of Human Genetics.

Interleukin-6, interleukin-8, and soluble tumor necrosis factor receptor-I in the cord blood as predictors of chronic lung disease in premature infants.

M. Mori, S. Yokota, T. Naruto, 2004, American journal of obstetrics and gynecology.

Next-generation sequencing for the diagnosis of patients with congenital multiple anomalies and / or intellectual disabilities.

I. Imoto, S. Kagami, M. Urushihara, 2020, The journal of medical investigation : JMI.

Association of HLA-A*02:06 and HLA-DRB1*04:05 with clinical subtypes of juvenile idiopathic arthritis

S. Morita, N. Mizuki, A. Kimura, 2011, Journal of Human Genetics.

Tatton-Brown-Rahman syndrome with a novel DNMT3A mutation presented severe intellectual disability and autism spectrum disorder

Kenji Kurosawa, N. Higurashi, K. Kurosawa, 2020, Human Genome Variation.

Three patients with Schaaf–Yang syndrome exhibiting arthrogryposis and endocrinological abnormalities

N. Matsumoto, I. Imoto, S. Ida, 2018, American journal of medical genetics. Part A.

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

M. Tohyama, Y. Kubo, I. Imoto, 2017, Journal of dermatological science.

PHACES‐like syndrome with TMEM260 compound heterozygous variants

J. Mitsui, Y. Kuroda, K. Kurosawa, 2023, American journal of medical genetics. Part A.

Novel compound heterozygous CDH23 variants in a patient with Usher syndrome type I

K. Masuda, I. Imoto, Y. Makita, 2019, Human Genome Variation.

Primary microcephaly caused by novel compound heterozygous mutations in ASPM

K. Masuda, I. Imoto, N. Okamoto, 2018, Human Genome Variation.

A novel PTCH1 mutation in a patient with Gorlin syndrome

T. Komori, I. Imoto, T. Naruto, 2014, Human Genome Variation.

Biallelic mutations of EGFR in a compound heterozygous state cause ectodermal dysplasia with severe skin defects and gastrointestinal dysfunction

Y. Tsurusaki, K. Kurosawa, Takayuki Yokoi, 2018, Human Genome Variation.

Soluble tumor necrosis factor receptor‐I in preterm infants with chorioamnionitis

M. Mori, S. Yokota, T. Naruto, 2009, The journal of obstetrics and gynaecology research.

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

M. Mori, S. Yokota, T. Naruto, 2010, Pediatrics international : official journal of the Japan Pediatric Society.

Cantú syndrome with novel pathogenic variant in nucleotide‐binding domain 1 of ABCC9

Y. Tsurusaki, K. Kurosawa, Takayuki Yokoi, 2020, Pediatrics international : official journal of the Japan Pediatric Society.

Whole-Exome Sequencing-Based Approach for Germline Mutations in Patients with Inborn Errors of Immunity

O. Ohara, S. Ogawa, H. Kanegane, 2020, Journal of Clinical Immunology.

Tatton-Brown-Rahman syndrome with a novel DNMT3A mutation presented severe intellectual disability and autism spectrum disorder

N. Higurashi, K. Kurosawa, Takayuki Yokoi, 2020, Human Genome Variation.

A FRMD7 variant in a Japanese family causes congenital nystagmus

T. Komori, I. Imoto, T. Naruto, 2015, Human Genome Variation.

Leucine-rich alpha-2-glycoprotein 1 and angiotensinogen as diagnostic biomarkers for Kawasaki disease

T. Morio, T. Fujiwara, Natsuko Suzuki, 2021, PloS one.

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

Y. Kuroda, K. Kurosawa, J. Nagai, 2014, American journal of medical genetics. Part A.