Osamu Ohara

Osamu Ohara

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Short DNA Probes Developed for Sample Tracking and Quality Assurance in Gene Panel Testing.

J Mol Diagn 2019 Nov 22;21(6):1079-1094. Epub 2019 Aug 22.

Department of Technology Development, Kazusa DNA Research Institute, Kisarazu, Japan.

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http://dx.doi.org/10.1016/j.jmoldx.2019.07.003DOI Listing
November 2019

Low-frequency mosaicism in cryopyrin-associated periodic fever syndrome: mosaicism in systemic autoinflammatory diseases.

Int Immunol 2019 Sep;31(10):649-655

Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

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http://dx.doi.org/10.1093/intimm/dxz047DOI Listing
September 2019

PCR-free whole exome sequencing: Cost-effective and efficient in detecting rare mutations.

PLoS One 2019 13;14(9):e0222562. Epub 2019 Sep 13.

Laboratory of Clinical Omics Research, Department of Applied Genomics, Kazusa DNA Research Institute, Chiba, Japan.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0222562PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6743761PMC
September 2019

Prognostic factors for survival of herpes simplex virus-associated hemophagocytic lymphohistiocytosis.

Int J Hematol 2019 Sep 23. Epub 2019 Sep 23.

Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.

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http://dx.doi.org/10.1007/s12185-019-02738-3DOI Listing
September 2019

TGF-β signaling promotes tube-structure-forming growth in pancreatic duct adenocarcinoma.

Sci Rep 2019 Aug 2;9(1):11247. Epub 2019 Aug 2.

Department of Molecular and Tumor Pathology, Graduate School of Medicine, Chiba University, Chiba, 260-8670, Japan.

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http://dx.doi.org/10.1038/s41598-019-47101-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6677751PMC
August 2019

BTNL2 germline variants may be involved in the pathogenesis of renal granuloma.

Pediatr Int 2019 Aug 27;61(8):834-836. Epub 2019 Aug 27.

Division of Pediatrics, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.

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http://dx.doi.org/10.1111/ped.13923DOI Listing
August 2019

Autosomal dominant Hashimoto's thyroiditis with a mutation in .

Clin Pediatr Endocrinol 2019 20;28(3):91-96. Epub 2019 Jul 20.

Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.

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http://dx.doi.org/10.1297/cpe.28.91DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6646238PMC
July 2019

Dysregulated fatty acid metabolism in nasal polyp-derived eosinophils from patients with chronic rhinosinusitis.

Allergy 2019 Jun 26;74(6):1113-1124. Epub 2019 Feb 26.

Laboratory for Metabolomics, RIKEN Center for Integrative Medical Sciences, Kanagawa, Japan.

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http://dx.doi.org/10.1111/all.13726DOI Listing
June 2019

Cysteinyl leukotriene metabolism of human eosinophils in allergic disease.

Allergol Int 2019 Jun 24. Epub 2019 Jun 24.

Laboratory for Metabolomics, RIKEN Center for Integrative Medical Sciences, Kanagawa, Japan; Cellular and Molecular Epigenetics Laboratory, Graduate School of Medical Life Science, Yokohama City University, Kanagawa, Japan; Division of Physiological Chemistry and Metabolism, Keio University Faculty of Pharmacy, Tokyo, Japan.

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http://dx.doi.org/10.1016/j.alit.2019.06.002DOI Listing
June 2019

Eomes transcription factor is required for the development and differentiation of invariant NKT cells.

Commun Biol 2019 29;2:150. Epub 2019 Apr 29.

Laboratory for Immunotherapy, RIKEN Center for Integrative Medical Sciences (IMS), Yokohama, Kanagawa 230-0045 Japan.

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http://www.nature.com/articles/s42003-019-0389-3
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http://dx.doi.org/10.1038/s42003-019-0389-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6488575PMC
April 2019

Challenges in Developing Protein Secretion Assays at a Single-Cell Level.

Methods Mol Biol 2018 ;1808:1-7

Laboratory for Integrative Genomics, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.

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http://dx.doi.org/10.1007/978-1-4939-8567-8_1DOI Listing
March 2019

Inhibition of T cell activation and function by the adaptor protein CIN85.

Sci Signal 2019 02 5;12(567). Epub 2019 Feb 5.

Laboratory for Cell Signaling, RIKEN Center for Integrative Medical Sciences, Yokohama, Kanagawa 230-0045, Japan.

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http://dx.doi.org/10.1126/scisignal.aav4373DOI Listing
February 2019

Recurrent Acute Abdomen as the Main Manifestation of Hereditary Angioedema.

Intern Med 2019 Jan 24;58(2):213-216. Epub 2018 Aug 24.

Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Japan.

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http://dx.doi.org/10.2169/internalmedicine.1559-18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6378167PMC
January 2019

Proteogenomic Analyses of Cellular Lysates Using a Phenol-Guanidinium Thiocyanate Reagent.

J Proteome Res 2019 01 12;18(1):301-308. Epub 2018 Nov 12.

Department of Genome Research and Development , Kazusa DNA Research Institute , Kisarazu , Chiba 292-0818 , Japan.

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http://pubs.acs.org/doi/10.1021/acs.jproteome.8b00609
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http://dx.doi.org/10.1021/acs.jproteome.8b00609DOI Listing
January 2019

Mosaicism of an ELANE Mutation in an Asymptomatic Mother.

J Clin Immunol 2019 01 12;39(1):106-111. Epub 2019 Jan 12.

Department of Pediatrics, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, 390-8621, Japan.

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http://dx.doi.org/10.1007/s10875-018-0580-1DOI Listing
January 2019

Development of a NanoLC-MS/MS System Using a Nonporous Reverse Phase Column for Ultrasensitive Proteome Analysis.

Anal Chem 2018 11 16;90(21):12334-12338. Epub 2018 Oct 16.

Laboratory for Integrative Genomics , RIKEN Center for Integrative Medical Sciences , Yokohama , Kanagawa 230-0045 , Japan.

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http://dx.doi.org/10.1021/acs.analchem.8b03382DOI Listing
November 2018

Obesity Drives STAT-1-Dependent NASH and STAT-3-Dependent HCC.

Cell 2018 11 25;175(5):1289-1306.e20. Epub 2018 Oct 25.

Monash Biomedicine Discovery Institute, Monash University, Clayton, VIC 3800, Australia; Peter MacCallum Cancer Centre, Melbourne, VIC 3000, Australia. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00928674183130
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http://dx.doi.org/10.1016/j.cell.2018.09.053DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6242467PMC
November 2018

Clinical and molecular features of X-linked hyper IgM syndrome - An experience from North India.

Clin Immunol 2018 10 25;195:59-66. Epub 2018 Jul 25.

Pediatric Allergy and Immunology Unit, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India. Electronic address:

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http://dx.doi.org/10.1016/j.clim.2018.07.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6666391PMC
October 2018

Variant PRC1 competes with retinoic acid-related signals to repress in the mouse distal forelimb bud.

Development 2018 10 11;145(19). Epub 2018 Oct 11.

Laboratory for Developmental Genetics, RIKEN Center for Integrative Medical Sciences (RIKEN-IMS), 1-7-22 Suehiro-cho, Tsurumi-ku, Yokohama 230-0045, Japan

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http://dx.doi.org/10.1242/dev.166348DOI Listing
October 2018

Sox12 promotes T reg differentiation in the periphery during colitis.

J Exp Med 2018 10 6;215(10):2509-2519. Epub 2018 Sep 6.

Department of Allergy and Clinical Immunology, Graduate School of Medicine, Chiba University, Japan

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http://dx.doi.org/10.1084/jem.20172082DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6170178PMC
October 2018

Comprehensive molecular diagnosis of Epstein-Barr virus-associated lymphoproliferative diseases using next-generation sequencing.

Int J Hematol 2018 Sep 18;108(3):319-328. Epub 2018 May 18.

Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan.

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http://dx.doi.org/10.1007/s12185-018-2475-6DOI Listing
September 2018

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

Jpn J Ophthalmol 2018 Jul 21;62(4):451-457. Epub 2018 May 21.

Laboratory for Retinal Regeneration, RIKEN Center for Developmental Biology, 2-2-3 Minatojimaminamimachi, Chuo-ku, Kobe, Hyogo, 650-0047, Japan.

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http://dx.doi.org/10.1007/s10384-018-0601-xDOI Listing
July 2018

Haploinsufficiency of A20 causes autoinflammatory and autoimmune disorders.

J Allergy Clin Immunol 2018 04 11;141(4):1485-1488.e11. Epub 2017 Dec 11.

Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2017.10.039DOI Listing
April 2018

Identification of Protein Targets of 12/15-Lipoxygenase-Derived Lipid Electrophiles in Mouse Peritoneal Macrophages Using Omega-Alkynyl Fatty Acid.

ACS Chem Biol 2018 04 1;13(4):887-893. Epub 2018 Mar 1.

Graduate School of Medical Life Science , Yokohama City University , 1-7-29, Suehiro-cho, Tsurumi , Yokohama , Kanagawa 230-0045 , Japan.

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http://dx.doi.org/10.1021/acschembio.7b01092DOI Listing
April 2018

Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection.

Cell 2018 02;172(5):952-965.e18

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris 75015, France; Paris Descartes University, Imagine Institute, Paris 75015, France; Howard Hughes Medical Institute, New York, NY 10065, USA; Pediatric Immunology-Hematology Unit, Necker Hospital for Sick Children, Paris 75015, France.

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http://dx.doi.org/10.1016/j.cell.2018.02.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886375PMC
February 2018

NK cell and IFN signatures are positive prognostic biomarkers for resectable pancreatic cancer.

Biochem Biophys Res Commun 2018 01 15;495(2):2058-2065. Epub 2017 Dec 15.

Hepato-Biliary-Pancreatic Surgery Division, Department of Surgery, Graduate School of Medicine, The University of Tokyo, Bunkyo-ku, Tokyo 113-8655, Japan; National Center for Global Health and Medicine, Shinjuku-ku, Tokyo 162-8655, Japan.

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http://dx.doi.org/10.1016/j.bbrc.2017.12.083DOI Listing
January 2018

Rbm10 regulates inflammation development via alternative splicing of Dnmt3b.

Int Immunol 2017 12;29(12):581-591

Division of Molecular Psychoimmunology, Institute for Genetic Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.

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http://academic.oup.com/intimm/article/29/12/581/4773579
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http://dx.doi.org/10.1093/intimm/dxx067DOI Listing
December 2017

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

J Inherit Metab Dis 2017 11 10;40(6):845-852. Epub 2017 Jul 10.

Department of Pediatrics, Graduate School of Medicine, Gifu University, 1-1 Yanagido, Gifu City, Gifu, 501-1194, Japan.

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http://dx.doi.org/10.1007/s10545-017-0065-zDOI Listing
November 2017

Immunodeficiency in Two Female Patients with Incontinentia Pigmenti with Heterozygous NEMO Mutation Diagnosed by LPS Unresponsiveness.

J Clin Immunol 2017 Aug 12;37(6):529-538. Epub 2017 Jul 12.

Department of Pediatrics, Graduate School of Medicine, Gifu University, 1-1 Yanagido, Gifu, 501-1194, Japan.

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http://link.springer.com/10.1007/s10875-017-0417-3
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http://dx.doi.org/10.1007/s10875-017-0417-3DOI Listing
August 2017

IκBNS enhances follicular helper T-cell differentiation and function downstream of ASCl2.

J Allergy Clin Immunol 2017 07 28;140(1):288-291.e8. Epub 2016 Dec 28.

Department of Allergy and Clinical Immunology, Graduate School of Medicine, Chiba University, Chiba, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2016.10.047DOI Listing
July 2017

Mitochonic Acid 5 (MA-5) Facilitates ATP Synthase Oligomerization and Cell Survival in Various Mitochondrial Diseases.

EBioMedicine 2017 Jun 13;20:27-38. Epub 2017 May 13.

Division of Nephrology, Endocrinology and Vascular Medicine, Tohoku University Graduate School of Medicine, Sendai 980-8574, Japan; Department of Medical Science, Tohoku University Graduate School of Biomedical Engineering, Sendai 980-8574, Japan; Department of Clinical Biology and Hormonal Regulation, Tohoku University Graduate School of Medicine, Sendai 980-8574, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.ebiom.2017.05.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5478234PMC
June 2017

Nationwide survey of Baller‑Gerold syndrome in Japanese population.

Mol Med Rep 2017 May 28;15(5):3222-3224. Epub 2017 Mar 28.

Department of Clinical Research, National Hospital Organization Nagara Medical Center, Gifu 502‑8558, Japan.

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http://dx.doi.org/10.3892/mmr.2017.6408DOI Listing
May 2017

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

J Biol Chem 2017 04 3;292(15):6240-6254. Epub 2017 Mar 3.

From the Department of Technology Development, Kazusa DNA Research Institute, 2-6-7 Kazusa-Kamatari, Kisarazu-Shi, Chiba-Ken, 292-0818.

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http://dx.doi.org/10.1074/jbc.M116.753848DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5391754PMC
April 2017

Infection Profile in Chronic Granulomatous Disease: a 23-Year Experience from a Tertiary Care Center in North India.

J Clin Immunol 2017 Apr 22;37(3):319-328. Epub 2017 Mar 22.

Pediatric Allergy and Immunology Unit, Advanced Pediatrics Centre, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigargh, 160012, India.

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http://dx.doi.org/10.1007/s10875-017-0382-xDOI Listing
April 2017

Alternative pathway for the development of V14 NKT cells directly from CD4CD8 thymocytes that bypasses the CD4CD8 stage.

Nat Immunol 2017 03 30;18(3):274-282. Epub 2017 Jan 30.

Laboratory for Immune Regulation, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.

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http://dx.doi.org/10.1038/ni.3668DOI Listing
March 2017

A deletion in the intergenic region upstream of Ednrb causes head spot in the rat strain KFRS4/Kyo.

BMC Genet 2017 03 29;18(1):29. Epub 2017 Mar 29.

Medical Institute of Bioregulation, Kyushu University, Fukuoka, 812-8582, Japan.

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http://dx.doi.org/10.1186/s12863-017-0497-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5372274PMC
March 2017

Accurate clinical genetic testing for autoinflammatory diseases using the next-generation sequencing platform MiSeq.

Biochem Biophys Rep 2017 Mar 23;9:146-152. Epub 2016 Dec 23.

Department of Technology Development, Kazusa DNA Research Institute, 2-6-7 Kazusa-Kamatari, Kisarazu, Chiba 292-0818, Japan.

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http://dx.doi.org/10.1016/j.bbrep.2016.12.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5614572PMC
March 2017

Pyoderma Gangrenosum, Acne and Suppurative Hidradenitis Syndrome Treated with Granulocyte and Monocyte Adsorption Apheresis.

Acta Derm Venereol 2017 02;97(2):275-276

Department of Dermatology, Gifu University Graduate School of Medicine, 1-1 Yanagido, Gifu City 501-1194, Japan.

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http://dx.doi.org/10.2340/00015555-2507DOI Listing
February 2017

Widespread Molluscum Contagiosum with Atopic Dermatitis-like Skin Manifestations.

Acta Derm Venereol 2017 02;97(2):291-292

Department of Dermatology, National Defense Medical College, 3-2 Namiki, Tokorozawa, 359-8513, Saitama, Japan.

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http://dx.doi.org/10.2340/00015555-2511DOI Listing
February 2017

A Japanese family case with juvenile onset Behçet's disease caused by TNFAIP3 mutation.

Allergol Int 2017 Jan 19;66(1):146-148. Epub 2016 Jul 19.

Department of Pediatrics, Gifu University Graduate School of Medicine, Gifu, Japan.

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http://dx.doi.org/10.1016/j.alit.2016.06.006DOI Listing
January 2017

Protective neutralizing influenza antibody response in the absence of T follicular helper cells.

Nat Immunol 2016 Dec 31;17(12):1447-1458. Epub 2016 Oct 31.

Laboratory for Cytokine Regulation, Research Center for Integrative Medical Science (IMS), RIKEN Yokohama Institute, Yokohama, Japan.

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http://dx.doi.org/10.1038/ni.3563DOI Listing
December 2016

Application of target capture sequencing of exons and conserved non-coding sequences to 20 inbred rat strains.

Genom Data 2016 Dec 14;10:155-157. Epub 2016 Nov 14.

Medical Institute of Bioregulation, Kyushu University, Maidashi 3-1-1, Higashi-ku, Fukuoka 812-8582, Japan; AMED-CREST, Japan Agency for Medical Research and Development, Fukuoka 812-8582, Japan.

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http://dx.doi.org/10.1016/j.gdata.2016.11.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5114524PMC
December 2016

A case of selective IgG subclass deficiency with STAT3 mutation.

Allergol Int 2016 Oct 11;65(4):495-497. Epub 2016 Jun 11.

Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.

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http://dx.doi.org/10.1016/j.alit.2016.05.004DOI Listing
October 2016

De Novo Assembly of the Transcriptome of Turritopsis, a Jellyfish that Repeatedly Rejuvenates.

Zoolog Sci 2016 Aug;33(4):366-71

2 Seto Marine Biological Laboratory, Field Science Education and Research Center,Kyoto University, Shirahama, Wakayama 649-2211, Japan.

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http://dx.doi.org/10.2108/zs150186DOI Listing
August 2016

Design and application of a target capture sequencing of exons and conserved non-coding sequences for the rat.

BMC Genomics 2016 08 9;17:593. Epub 2016 Aug 9.

Medical Institute of Bioregulation, Kyushu University, Maidashi 3-1-1, Higashi-ku, Fukuoka, 812-8582, Japan.

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http://dx.doi.org/10.1186/s12864-016-2975-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4979189PMC
August 2016

Activation of Endogenous Retroviruses in Dnmt1(-/-) ESCs Involves Disruption of SETDB1-Mediated Repression by NP95 Binding to Hemimethylated DNA.

Cell Stem Cell 2016 07 14;19(1):81-94. Epub 2016 Apr 14.

Laboratory for Developmental Genetics, RIKEN Center for Integrative Medical Sciences (IMS), 1-7-22 Suehiro-cho, Tsurumi-ku, Yokohama, Kanagawa 230-0045, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.stem.2016.03.013DOI Listing
July 2016

Micro-adhesion rings surrounding TCR microclusters are essential for T cell activation.

J Exp Med 2016 07 27;213(8):1609-25. Epub 2016 Jun 27.

Laboratory for Cell Signaling, RIKEN Center for Integrative Medical Sciences, Yokohama, Kanagawa 230-0045, Japan Laboratory for Cell Signaling, World Premier International Immunology Frontier Research Center, Osaka University, Suita, Osaka 565-0871, Japan

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http://dx.doi.org/10.1084/jem.20151088DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4986522PMC
July 2016

Familial lamin A/C mutation cardiomyopathy with arrhythmia substrate detected by cardiac magnetic resonance imaging and electroanatomical mapping.

Int J Cardiol 2016 Apr 4;209:248-52. Epub 2016 Feb 4.

Department of Cardiovascular Medicine, Chiba University Graduate School of Medicine, 1-8-1 Inohana, Chuo-ku, Chiba City, Chiba Prefecture 260-8670, Japan.

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http://dx.doi.org/10.1016/j.ijcard.2016.02.030DOI Listing
April 2016

Invasive Bacterial Infection in Patients with Interleukin-1 Receptor-associated Kinase 4 Deficiency: Case Report.

Medicine (Baltimore) 2016 Jan;95(4):e2437

From the Department of Perinatal and Pediatric Medicine, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan (HT); Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan (MI, TT, TH); Department of Pediatrics, Naha City Hospital, Naha, Japan (TK); Department of Pediatrics, Nagaoka Rehabilitation and Medical Center for Children, Nagaoka, Japan (HY); Department of Hematology and Oncology, Miyagi Children's Hospital, Sendai, Japan (MI); Department of Pediatrics, Tokushima Red Cross Hospital, Komatsushima, Japan (KS); Okinawa Prefectural Nanbu Medical Center and Children's Medical Center, Shimajiri-gun, Japan (YS, TK); Center of Bone Marrow Transplantation, Hospital of University of the Ryukyu, Nakagami-gun, Japan (NH); Department of Technology Development, Kazusa DNA Research Institute, Kisarazu, Japan (OO); and Department of Pediatrics, National Defense Medical College, Tokorozawa, Japan (SN).

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http://pdfs.journals.lww.com/md-journal/2016/01250/Invasive_
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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/MD.0000000000002437DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5291554PMC
January 2016