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Items: 1 to 50 of 88

1.

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

Tozawa Y, Abdrabou SSMA, Nogawa-Chida N, Nishiuchi R, Ishida T, Suzuki Y, Sano H, Kobayashi R, Kishimoto K, Ohara O, Imai K, Naruto T, Kobayashi K, Ariga T, Yamada M.

Clin Immunol. 2019 Sep 5;208:108256. doi: 10.1016/j.clim.2019.108256. [Epub ahead of print]

PMID:
31494288
2.

Toll-Like Receptor 9 Plays a Pivotal Role in Angiotensin II-Induced Atherosclerosis.

Fukuda D, Nishimoto S, Aini K, Tanaka A, Nishiguchi T, Kim-Kaneyama JR, Lei XF, Masuda K, Naruto T, Tanaka K, Higashikuni Y, Hirata Y, Yagi S, Kusunose K, Yamada H, Soeki T, Imoto I, Akasaka T, Shimabukuro M, Sata M.

J Am Heart Assoc. 2019 Apr 2;8(7):e010860. doi: 10.1161/JAHA.118.010860.

3.

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

Okano S, Makita Y, Katada A, Harabuchi Y, Kohmoto T, Naruto T, Masuda K, Imoto I.

Hum Genome Var. 2019 Jan 28;6:8. doi: 10.1038/s41439-019-0037-y. eCollection 2019.

4.

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

Enomoto Y, Tsurusaki Y, Yokoi T, Abe-Hatano C, Ida K, Naruto T, Mitsui J, Tsuji S, Morishita S, Kurosawa K.

Eur J Med Genet. 2018 Dec 30. pii: S1769-7212(18)30157-5. doi: 10.1016/j.ejmg.2018.12.015. [Epub ahead of print]

PMID:
30602132
5.

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

Kuroda Y, Ohashi I, Naruto T, Ida K, Enomoto Y, Saito T, Nagai JI, Yanagi S, Ueda H, Kurosawa K.

J Hum Genet. 2018 Nov;63(11):1185-1188. doi: 10.1038/s10038-018-0499-7. Epub 2018 Aug 14.

PMID:
30108319
6.

Nonsyndromic intellectual disability with novel heterozygous SCN2A mutation and epilepsy.

Yokoi T, Enomoto Y, Tsurusaki Y, Naruto T, Kurosawa K.

Hum Genome Var. 2018 Jul 20;5:20. doi: 10.1038/s41439-018-0019-5. eCollection 2018.

7.

Thiamine tetrahydrofurfuryl disulfide promotes voluntary activity through dopaminergic activation in the medial prefrontal cortex.

Saiki M, Matsui T, Soya M, Kashibe T, Shima T, Shimizu T, Naruto T, Kitayoshi T, Akimoto K, Ninomiya S, Soya H.

Sci Rep. 2018 Jul 11;8(1):10469. doi: 10.1038/s41598-018-28462-2.

8.

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

Kubara K, Yamazaki K, Ishihara Y, Naruto T, Lin HT, Nishimura K, Ohtaka M, Nakanishi M, Ito M, Tsukahara K, Morio T, Takagi M, Otsu M.

Stem Cell Reports. 2018 Aug 14;11(2):380-394. doi: 10.1016/j.stemcr.2018.06.008. Epub 2018 Jul 5.

9.

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

Hayashi S, Yokoi T, Hatano C, Enomoto Y, Tsurusaki Y, Naruto T, Kobayashi M, Ida H, Kurosawa K.

Hum Genome Var. 2018 Jun 8;5:11. doi: 10.1038/s41439-018-0011-0. eCollection 2018.

10.

Primary microcephaly caused by novel compound heterozygous mutations in ASPM.

Okamoto N, Kohmoto T, Naruto T, Masuda K, Imoto I.

Hum Genome Var. 2018 Apr 5;5:18015. doi: 10.1038/hgv.2018.15. eCollection 2018.

11.

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

Kuroda Y, Ohashi I, Naruto T, Ida K, Enomoto Y, Saito T, Nagai JI, Kurosawa K.

Congenit Anom (Kyoto). 2018 Nov;58(6):191-193. doi: 10.1111/cga.12277. Epub 2018 Mar 25.

PMID:
29520887
12.

Three patients with Schaaf-Yang syndrome exhibiting arthrogryposis and endocrinological abnormalities.

Enya T, Okamoto N, Iba Y, Miyazawa T, Okada M, Ida S, Naruto T, Imoto I, Fujita A, Miyake N, Matsumoto N, Sugimoto K, Takemura T.

Am J Med Genet A. 2018 Mar;176(3):707-711. doi: 10.1002/ajmg.a.38606. Epub 2018 Jan 23.

PMID:
29359444
13.

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

Hirasawa A, Imoto I, Naruto T, Akahane T, Yamagami W, Nomura H, Masuda K, Susumu N, Tsuda H, Aoki D.

Oncotarget. 2017 Nov 28;8(68):112258-112267. doi: 10.18632/oncotarget.22733. eCollection 2017 Dec 22.

14.

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

Tokaji N, Ito H, Kohmoto T, Naruto T, Takahashi R, Goji A, Mori T, Toda Y, Saito M, Tange S, Masuda K, Kagami S, Imoto I.

Am J Med Genet A. 2018 Mar;176(3):699-702. doi: 10.1002/ajmg.a.38595. Epub 2018 Jan 17.

PMID:
29341476
15.

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

Fujita Y, Masuda K, Hamada J, Shoda K, Naruto T, Hamada S, Miyakami Y, Kohmoto T, Watanabe M, Takahashi R, Tange S, Saito M, Kudo Y, Fujiwara H, Ichikawa D, Tangoku A, Otsuji E, Imoto I.

Oncotarget. 2017 Sep 15;8(60):101130-101145. doi: 10.18632/oncotarget.20926. eCollection 2017 Nov 24.

16.

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

Kohmoto T, Masuda K, Naruto T, Tange S, Shoda K, Hamada J, Saito M, Ichikawa D, Tajima A, Otsuji E, Imoto I.

J Med Invest. 2017;64(3.4):233-240. doi: 10.2152/jmi.64.233.

17.

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

Kajiura K, Takizawa H, Morimoto Y, Masuda K, Tsuboi M, Kishibuchi R, Wusiman N, Sawada T, Kawakita N, Toba H, Yoshida M, Kawakami Y, Naruto T, Imoto I, Tangoku A, Kondo K.

Lung Cancer. 2017 Sep;111:116-123. doi: 10.1016/j.lungcan.2017.05.019. Epub 2017 May 25.

PMID:
28838380
18.

Novel CLCN7 compound heterozygous mutations in intermediate autosomal recessive osteopetrosis.

Okamoto N, Kohmoto T, Naruto T, Masuda K, Komori T, Imoto I.

Hum Genome Var. 2017 Aug 17;4:17036. doi: 10.1038/hgv.2017.36. eCollection 2017.

19.

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

Okada A, Kohmoto T, Naruto T, Yokota I, Kotani Y, Shimada A, Miyamoto Y, Takahashi R, Goji A, Masuda K, Kagami S, Imoto I.

Hum Genome Var. 2017 Aug 3;4:17031. doi: 10.1038/hgv.2017.31. eCollection 2017.

20.

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

Tsurusaki Y, Ohashi I, Enomoto Y, Naruto T, Mitsui J, Aida N, Kurosawa K.

Hum Genome Var. 2017 Jun 8;4:17019. doi: 10.1038/hgv.2017.19. eCollection 2017.

21.

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

Kohmoto T, Okamoto N, Naruto T, Murata C, Ouchi Y, Fujita N, Inagaki H, Satomura S, Okamoto N, Saito M, Masuda K, Kurahashi H, Imoto I.

Mol Cytogenet. 2017 Apr 28;10:15. doi: 10.1186/s13039-017-0316-6. eCollection 2017.

22.

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

Enokizono M, Aida N, Niwa T, Osaka H, Naruto T, Kurosawa K, Ohba C, Suzuki T, Saitsu H, Goto T, Matsumoto N.

J Neurol Sci. 2017 May 15;376:7-12. doi: 10.1016/j.jns.2017.02.065. Epub 2017 Mar 1.

PMID:
28431631
23.

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

Watanabe M, Hayabuchi Y, Ono A, Naruto T, Horikawa H, Kohmoto T, Masuda K, Nakagawa R, Ito H, Kagami S, Imoto I.

Hum Genome Var. 2016 May 12;3:16006. doi: 10.1038/hgv.2016.6. eCollection 2016.

24.

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

Matsudate Y, Naruto T, Hayashi Y, Minami M, Tohyama M, Yokota K, Yamada D, Imoto I, Kubo Y.

J Dermatol Sci. 2017 Jun;86(3):206-211. doi: 10.1016/j.jdermsci.2017.02.282. Epub 2017 Mar 11.

PMID:
28342698
25.

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

Kohmoto T, Naruto T, Watanabe M, Fujita Y, Ujiro S, Okamoto N, Horikawa H, Masuda K, Imoto I.

Am J Med Genet A. 2017 Apr;173(4):1082-1086. doi: 10.1002/ajmg.a.38122.

PMID:
28328141
26.

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

Hisa K, Yanagimachi MD, Naruto T, Miyamae T, Kikuchi M, Hara R, Imagawa T, Yokota S, Mori M.

PLoS One. 2017 Feb 9;12(2):e0171961. doi: 10.1371/journal.pone.0171961. eCollection 2017.

27.

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

Okamoto N, Watanabe M, Naruto T, Matsuda K, Kohmoto T, Saito M, Masuda K, Imoto I.

Hum Genome Var. 2017 Jan 19;4:16045. doi: 10.1038/hgv.2016.45. eCollection 2017.

28.

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

Kajiura K, Masuda K, Naruto T, Kohmoto T, Watabnabe M, Tsuboi M, Takizawa H, Kondo K, Tangoku A, Imoto I.

Oncotarget. 2017 Jan 10;8(2):2890-2905. doi: 10.18632/oncotarget.13761.

29.

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

Mitsui SN, Yasue A, Masuda K, Naruto T, Minegishi Y, Oyadomari S, Noji S, Imoto I, Tanaka E.

Sci Rep. 2016 Dec 5;6:38398. doi: 10.1038/srep38398.

30.

HIV-1 Control by NK Cells via Reduced Interaction between KIR2DL2 and HLA-C12:02/C14:03.

Lin Z, Kuroki K, Kuse N, Sun X, Akahoshi T, Qi Y, Chikata T, Naruto T, Koyanagi M, Murakoshi H, Gatanaga H, Oka S, Carrington M, Maenaka K, Takiguchi M.

Cell Rep. 2016 Nov 22;17(9):2210-2220. doi: 10.1016/j.celrep.2016.10.075.

31.

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

Watanabe M, Nakagawa R, Kohmoto T, Naruto T, Suga KI, Goji A, Horikawa H, Masuda K, Kagami S, Imoto I.

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

32.

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

Watanabe M, Nakagawa R, Naruto T, Kohmoto T, Suga K, Goji A, Kagami S, Masuda K, Imoto I.

Hum Genome Var. 2016 Sep 15;3:16030. doi: 10.1038/hgv.2016.30. eCollection 2016.

33.

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

Kohmoto T, Shono M, Naruto T, Watanabe M, Suga K, Nakagawa R, Kagami S, Masuda K, Imoto I.

Hum Genome Var. 2016 Apr 7;3:16004. doi: 10.1038/hgv.2016.4. eCollection 2016.

34.

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

Kohmoto T, Tsuji A, Morita K, Naruto T, Masuda K, Kashimada K, Enomoto K, Morio T, Harada H, Imoto I.

Hum Genome Var. 2016 Apr 7;3:16003. doi: 10.1038/hgv.2016.3. eCollection 2016.

35.

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

Hamada J, Shoda K, Masuda K, Fujita Y, Naruto T, Kohmoto T, Miyakami Y, Watanabe M, Kudo Y, Fujiwara H, Ichikawa D, Otsuji E, Imoto I.

Oncotarget. 2016 Mar 29;7(13):17111-28. doi: 10.18632/oncotarget.7937.

36.

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

Morine M, Kohmoto T, Masuda K, Inagaki H, Watanabe M, Naruto T, Kurahashi H, Maeda K, Imoto I.

Am J Med Genet A. 2015 Dec;167A(12):3192-6. doi: 10.1002/ajmg.a.37359. Epub 2015 Sep 28. Erratum in: Am J Med Genet A. 2016 Feb;170A(2):548.

PMID:
26780237
37.

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

Morita K, Naruto T, Tanimoto K, Yasukawa C, Oikawa Y, Masuda K, Imoto I, Inazawa J, Omura K, Harada H.

PLoS One. 2015 Nov 6;10(11):e0140480. doi: 10.1371/journal.pone.0140480. eCollection 2015.

38.

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

Naruto T, Okamoto N, Masuda K, Endo T, Hatsukawa Y, Kohmoto T, Imoto I.

Sci Rep. 2015 Jun 10;5:11334. doi: 10.1038/srep11334.

39.

A postzygotic NRAS mutation in a patient with Schimmelpenning syndrome.

Kuroda Y, Ohashi I, Enomoto Y, Naruto T, Baba N, Tanaka Y, Aida N, Okamoto N, Niihori T, Aoki Y, Kurosawa K.

Am J Med Genet A. 2015 Sep;167A(9):2223-5. doi: 10.1002/ajmg.a.37135. Epub 2015 Apr 25. No abstract available.

PMID:
25914220
40.

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

Kuroda Y, Ohashi I, Naruto T, Ida K, Enomoto Y, Saito T, Nagai J, Wada T, Kurosawa K.

Am J Med Genet A. 2015 Jun;167(6):1349-53. doi: 10.1002/ajmg.a.37002. Epub 2015 Apr 21.

PMID:
25900396
41.

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

Murakoshi H, Akahoshi T, Koyanagi M, Chikata T, Naruto T, Maruyama R, Tamura Y, Ishizuka N, Gatanaga H, Oka S, Takiguchi M.

J Virol. 2015 May;89(10):5330-9. doi: 10.1128/JVI.00020-15. Epub 2015 Mar 4.

42.

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

Kohmoto T, Naruto T, Kobayashi H, Watanabe M, Okamoto N, Masuda K, Imoto I, Okamoto N.

Hum Genome Var. 2015 Nov 12;2:15043. doi: 10.1038/hgv.2015.43. eCollection 2015.

43.

A FRMD7 variant in a Japanese family causes congenital nystagmus.

Kohmoto T, Okamoto N, Satomura S, Naruto T, Komori T, Hashimoto T, Imoto I.

Hum Genome Var. 2015 Feb 12;2:15002. doi: 10.1038/hgv.2015.2. eCollection 2015.

44.

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

Kuroda Y, Saito T, Nagai J, Ida K, Naruto T, Masuno M, Kurosawa K.

Am J Med Genet A. 2015 Feb;167A(2):389-93. doi: 10.1002/ajmg.a.36813. Epub 2014 Dec 8.

PMID:
25487640
45.

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

Kuroda Y, Ohashi I, Saito T, Nagai J, Ida K, Naruto T, Wada T, Kurosawa K.

Am J Med Genet A. 2014 Nov;164A(11):2873-8. doi: 10.1002/ajmg.a.36704. Epub 2014 Aug 6.

PMID:
25099823
46.

West syndrome in a patient with Schinzel-Giedion syndrome.

Miyake F, Kuroda Y, Naruto T, Ohashi I, Takano K, Kurosawa K.

J Child Neurol. 2015 Jun;30(7):932-6. doi: 10.1177/0883073814541468. Epub 2014 Jul 14.

PMID:
25028416
47.

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

Kuroda Y, Ohashi I, Saito T, Nagai J, Ida K, Naruto T, Iai M, Kurosawa K.

Am J Med Genet A. 2014 Aug;164A(8):2104-8. doi: 10.1002/ajmg.a.36604. Epub 2014 May 6.

PMID:
24801133
48.

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

Kuroda Y, Ohashi I, Tominaga M, Saito T, Nagai J, Ida K, Naruto T, Masuno M, Kurosawa K.

Am J Med Genet A. 2014 Jun;164A(6):1550-4. doi: 10.1002/ajmg.a.36477. Epub 2014 Mar 25.

PMID:
24668897
49.

Host-specific adaptation of HIV-1 subtype B in the Japanese population.

Chikata T, Carlson JM, Tamura Y, Borghan MA, Naruto T, Hashimoto M, Murakoshi H, Le AQ, Mallal S, John M, Gatanaga H, Oka S, Brumme ZL, Takiguchi M.

J Virol. 2014 May;88(9):4764-75. doi: 10.1128/JVI.00147-14. Epub 2014 Feb 12.

50.

A novel PTCH1 mutation in a patient with Gorlin syndrome.

Okamoto N, Naruto T, Kohmoto T, Komori T, Imoto I.

Hum Genome Var. 2014 Nov 13;1:14022. doi: 10.1038/hgv.2014.22. eCollection 2014.

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