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Items: 1 to 20 of 70

1.

Assessing the Accuracy of Variant Detection in Cost-Effective Gene Panel Testing by Next-Generation Sequencing.

Fujiki R, Ikeda M, Yoshida A, Akiko M, Yao Y, Nishimura M, Matsushita K, Ichikawa T, Tanaka T, Morisaki H, Morisaki T, Ohara O.

J Mol Diagn. 2018 Jun 25. pii: S1525-1578(17)30554-8. doi: 10.1016/j.jmoldx.2018.04.004. [Epub ahead of print]

PMID:
29953964
2.

Development of a molecular diagnostic test for Retinitis Pigmentosa in the Japanese population.

Maeda A, Yoshida A, Kawai K, Arai Y, Akiba R, Inaba A, Takagi S, Fujiki R, Hirami Y, Kurimoto Y, Ohara O, Takahashi M.

Jpn J Ophthalmol. 2018 Jul;62(4):451-457. doi: 10.1007/s10384-018-0601-x. Epub 2018 May 21.

PMID:
29785639
3.

Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity.

Tajima G, Hara K, Tsumura M, Kagawa R, Okada S, Sakura N, Maruyama S, Noguchi A, Awaya T, Ishige M, Ishige N, Musha I, Ajihara S, Ohtake A, Naito E, Hamada Y, Kono T, Asada T, Sasai H, Fukao T, Fujiki R, Ohara O, Bo R, Yamada K, Kobayashi H, Hasegawa Y, Yamaguchi S, Takayanagi M, Hata I, Shigematsu Y, Kobayashi M.

Mol Genet Metab. 2017 Nov;122(3):67-75. doi: 10.1016/j.ymgme.2017.07.011. Epub 2017 Jul 31.

PMID:
28801073
4.

Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis.

Sasai H, Aoyama Y, Otsuka H, Abdelkreem E, Naiki Y, Kubota M, Sekine Y, Itoh M, Nakama M, Ohnishi H, Fujiki R, Ohara O, Fukao T.

J Inherit Metab Dis. 2017 Nov;40(6):845-852. doi: 10.1007/s10545-017-0065-z. Epub 2017 Jul 10.

PMID:
28695376
5.

A case of classical maple syrup urine disease that was successfully managed by living donor liver transplantation.

Takano C, Ishige M, Ogawa E, Usui H, Kagawa R, Tajima G, Fujiki R, Fukao T, Mizuta K, Fuchigami T, Takahashi S.

Pediatr Transplant. 2017 Aug;21(5). doi: 10.1111/petr.12948. Epub 2017 Jun 14.

PMID:
28612395
6.

Molecular mechanism and structural basis of gain-of-function of STAT1 caused by pathogenic R274Q mutation.

Fujiki R, Hijikata A, Shirai T, Okada S, Kobayashi M, Ohara O.

J Biol Chem. 2017 Apr 14;292(15):6240-6254. doi: 10.1074/jbc.M116.753848. Epub 2017 Mar 3.

7.

Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants.

Kagawa R, Fujiki R, Tsumura M, Sakata S, Nishimura S, Itan Y, Kong XF, Kato Z, Ohnishi H, Hirata O, Saito S, Ikeda M, El Baghdadi J, Bousfiha A, Fujiwara K, Oleastro M, Yancoski J, Perez L, Danielian S, Ailal F, Takada H, Hara T, Puel A, Boisson-Dupuis S, Bustamante J, Casanova JL, Ohara O, Okada S, Kobayashi M.

J Allergy Clin Immunol. 2017 Jul;140(1):232-241. doi: 10.1016/j.jaci.2016.09.035. Epub 2016 Dec 20.

8.

A chromosome 16p13.11 microduplication causes hyperactivity through dysregulation of miR-484/protocadherin-19 signaling.

Fujitani M, Zhang S, Fujiki R, Fujihara Y, Yamashita T.

Mol Psychiatry. 2017 Mar;22(3):364-374. doi: 10.1038/mp.2016.106. Epub 2016 Jul 5.

9.

Single event-related changes in cerebral oxygenated hemoglobin using word game in schizophrenia.

Fujiki R, Morita K, Sato M, Yamashita Y, Kato Y, Ishii Y, Shoji Y, Uchimura N.

Neuropsychiatr Dis Treat. 2014 Dec 11;10:2353-60. doi: 10.2147/NDT.S73975. eCollection 2014.

10.

A selector orchestrates cortical function.

Ueno M, Fujiki R, Yamashita T.

Nat Neurosci. 2014 Aug;17(8):1016-7. doi: 10.1038/nn.3765. No abstract available.

PMID:
25065435
11.

Bre1a, a histone H2B ubiquitin ligase, regulates the cell cycle and differentiation of neural precursor cells.

Ishino Y, Hayashi Y, Naruse M, Tomita K, Sanbo M, Fuchigami T, Fujiki R, Hirose K, Toyooka Y, Fujimori T, Ikenaka K, Hitoshi S.

J Neurosci. 2014 Feb 19;34(8):3067-78. doi: 10.1523/JNEUROSCI.3832-13.2014.

12.

Retraction for Yoshimura et al., Distinct function of 2 chromatin remodeling complexes that share a common subunit, Williams syndrome transcription factor (WSTF).

Yoshimura K, Kitagawa H, Fujiki R, Tanabe M, Takezawa S, Takada I, Yamaoka I, Yonezawa M, Kondo T, Furutani Y, Yagi H, Yoshinaga S, Masuda T, Fukuda T, Yamamoto Y, Ebihara K, Li DY, Matsuoka R, Takeuchi JK, Matsumoto T, Kato S.

Proc Natl Acad Sci U S A. 2014 Feb 11;111(6):2398. doi: 10.1073/pnas.1323397111. Epub 2014 Jan 21. No abstract available.

14.

A proapoptotic effect of valproic acid on progenitors of embryonic stem cell-derived glutamatergic neurons.

Fujiki R, Sato A, Fujitani M, Yamashita T.

Cell Death Dis. 2013 Jun 20;4:e677. doi: 10.1038/cddis.2013.205.

15.

Reduced prefrontal cortex activation using the Trail Making Test in schizophrenia.

Fujiki R, Morita K, Sato M, Kamada Y, Kato Y, Inoue M, Shoji Y, Uchimura N.

Neuropsychiatr Dis Treat. 2013;9:675-85. doi: 10.2147/NDT.S43137. Epub 2013 May 16.

16.

TET2 promotes histone O-GlcNAcylation during gene transcription.

Chen Q, Chen Y, Bian C, Fujiki R, Yu X.

Nature. 2013 Jan 24;493(7433):561-4. doi: 10.1038/nature11742. Epub 2012 Dec 9.

17.

Improvement in protocol to generate homogeneous glutamatergic neurons from mouse embryonic stem cells reduced apoptosis.

Fujiki R, Sato A, Hata K, Tashiro F, Yasuhara N, Miyazaki J, Yoneda Y, Fujitani M, Yamashita T.

Biochem Biophys Res Commun. 2013 Jan 11;430(2):604-9. doi: 10.1016/j.bbrc.2012.11.106. Epub 2012 Dec 5. Erratum in: Biochem Biophys Res Commun. 2016 Apr 1;472(2):399.

PMID:
23219817
18.

1α,25-dihydroxyvitamin D3 modulates the hair-inductive capacity of dermal papilla cells: therapeutic potential for hair regeneration.

Aoi N, Inoue K, Chikanishi T, Fujiki R, Yamamoto H, Kato H, Eto H, Doi K, Itami S, Kato S, Yoshimura K.

Stem Cells Transl Med. 2012 Aug;1(8):615-26. doi: 10.5966/sctm.2012-0032. Epub 2012 Jul 27.

19.

State and trait markers of emotionally charged visual event-related potentials (P300) in drug-naïve schizophrenia.

Mori K, Morita K, Shoji Y, Matsuoka T, Fujiki R, Uchimura N.

Psychiatry Clin Neurosci. 2012 Jun;66(4):261-9. doi: 10.1111/j.1440-1819.2012.02345.x.

20.

Epigenetic silencing of core histone genes by HERS in Drosophila.

Ito S, Fujiyama-Nakamura S, Kimura S, Lim J, Kamoshida Y, Shiozaki-Sato Y, Sawatsubashi S, Suzuki E, Tanabe M, Ueda T, Murata T, Kato H, Ohtake F, Fujiki R, Miki T, Kouzmenko A, Takeyama K, Kato S.

Mol Cell. 2012 Feb 24;45(4):494-504. doi: 10.1016/j.molcel.2011.12.029.

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