Osamu Ohara


Ontology type: schema:Person     


Person Info

NAME

Osamu

SURNAME

Ohara

Publications in SciGraph latest 50 shown

  • 2019-01-11 Genetic and transcriptional landscape of plasma cells in POEMS syndrome in LEUKEMIA
  • 2019-01 Mosaicism of an ELANE Mutation in an Asymptomatic Mother in JOURNAL OF CLINICAL IMMUNOLOGY
  • 2018-12 Generation of orthotopically functional salivary gland from embryonic stem cells in NATURE COMMUNICATIONS
  • 2018-12 Late-onset ornithine transcarbamylase deficiency caused by a somatic mosaic mutation in HUMAN GENOME VARIATION
  • 2018-11 Clinical and Immunological Characterization of ICF Syndrome in Japan in JOURNAL OF CLINICAL IMMUNOLOGY
  • 2018-10-19 Biallelic GALM pathogenic variants cause a novel type of galactosemia in GENETICS IN MEDICINE
  • 2018-09 Comprehensive molecular diagnosis of Epstein–Barr virus-associated lymphoproliferative diseases using next-generation sequencing in INTERNATIONAL JOURNAL OF HEMATOLOGY
  • 2018-07 Development of a molecular diagnostic test for Retinitis Pigmentosa in the Japanese population in JAPANESE JOURNAL OF OPHTHALMOLOGY
  • 2018-06-29 Challenges in Developing Protein Secretion Assays at a Single-Cell Level in HANDBOOK OF ELISPOT
  • 2017-12 A deletion in the intergenic region upstream of Ednrb causes head spot in the rat strain KFRS4/Kyo in BMC GENETICS
  • 2017-12 Critical involvement of ZEB2 in collagen fibrillogenesis: the molecular similarity between Mowat-Wilson syndrome and Ehlers-Danlos syndrome in SCIENTIFIC REPORTS
  • 2017-12 A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report in BMC MEDICAL GENETICS
  • 2017-11 Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2017-08 Immunodeficiency in Two Female Patients with Incontinentia Pigmenti with Heterozygous NEMO Mutation Diagnosed by LPS Unresponsiveness in JOURNAL OF CLINICAL IMMUNOLOGY
  • 2017-07 Common Variable Immunodeficiency Caused by FANC Mutations in JOURNAL OF CLINICAL IMMUNOLOGY
  • 2017-04 Infection Profile in Chronic Granulomatous Disease: a 23-Year Experience from a Tertiary Care Center in North India in JOURNAL OF CLINICAL IMMUNOLOGY
  • 2017-01-30 Alternative pathway for the development of Vα14+ NKT cells directly from CD4–CD8– thymocytes that bypasses the CD4+CD8+ stage in NATURE IMMUNOLOGY
  • 2017-01 A CD57+ CTL Degranulation Assay Effectively Identifies Familial Hemophagocytic Lymphohistiocytosis Type 3 Patients in JOURNAL OF CLINICAL IMMUNOLOGY
  • 2016-12 Protective neutralizing influenza antibody response in the absence of T follicular helper cells in NATURE IMMUNOLOGY
  • 2016-12 Design and application of a target capture sequencing of exons and conserved non-coding sequences for the rat in BMC GENOMICS
  • 2016-09-01 Bach2–Batf interactions control Th2-type immune response by regulating the IL-4 amplification loop in NATURE COMMUNICATIONS
  • 2016-04 XXIV World Allergy Congress 2015 in WORLD ALLERGY ORGANIZATION JOURNAL
  • 2016-03 Exon skipping causes atypical phenotypes associated with a loss-of-function mutation in FLNA by restoring its protein function in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016-01 A Patient with CTLA-4 Haploinsufficiency Presenting Gastric Cancer in JOURNAL OF CLINICAL IMMUNOLOGY
  • 2015-12 Remarkable improvement of articular pain by biologics in a Multicentric carpotarsal osteolysis patient with a mutation of MAFB gene. in PEDIATRIC RHEUMATOLOGY
  • 2015-07 Mosaicism of an ELANE Mutation in an Asymptomatic Mother in a Familial Case of Cyclic Neutropenia in JOURNAL OF CLINICAL IMMUNOLOGY
  • 2015-05 Real-time single-cell imaging of protein secretion in SCIENTIFIC REPORTS
  • 2015-04 RAG1 Deficiency May Present Clinically as Selective IgA Deficiency in JOURNAL OF CLINICAL IMMUNOLOGY
  • 2015-03 Generating a transgenic mouse line stably expressing human MHC surface antigen from a HAC carrying multiple genomic BACs in CHROMOSOMA
  • 2015-03 Mutations in Bruton’s tyrosine kinase impair IgA responses in INTERNATIONAL JOURNAL OF HEMATOLOGY
  • 2015-02 X-Linked Agammaglobulinemia Associated with B-Precursor Acute Lymphoblastic Leukemia in JOURNAL OF CLINICAL IMMUNOLOGY
  • 2014-12 The Menin–Bach2 axis is critical for regulating CD4 T-cell senescence and cytokine homeostasis in NATURE COMMUNICATIONS
  • 2014-08 A Complement Factor B Mutation in a Large Kindred with Atypical Hemolytic Uremic Syndrome in JOURNAL OF CLINICAL IMMUNOLOGY
  • 2014-07 Clinical characteristics and genetic analysis of childhood acute lymphoblastic leukemia with hemophagocytic lymphohistiocytosis: a Japanese retrospective study by the Kyushu–Yamaguchi Children’s Cancer Study Group in INTERNATIONAL JOURNAL OF HEMATOLOGY
  • 2014-07 Clinical and Genetic Characterization of Japanese Sporadic Cases of Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis Syndrome from a Single Medical Center in Japan in JOURNAL OF CLINICAL IMMUNOLOGY
  • 2014-06 The epigenetic regulator Uhrf1 facilitates the proliferation and maturation of colonic regulatory T cells in NATURE IMMUNOLOGY
  • 2014-01 Chronic Granulomatous Disease: Two Decades of Experience From a Tertiary Care Centre in North West India in JOURNAL OF CLINICAL IMMUNOLOGY
  • 2013-12 Commensal microbe-derived butyrate induces the differentiation of colonic regulatory T cells in NATURE
  • 2013-12 The FLS (Fatty liver Shionogi) mouse reveals local expressions of lipocalin-2, CXCL1 and CXCL9 in the liver with non-alcoholic steatohepatitis in BMC GASTROENTEROLOGY
  • 2013-12 The identification of a novel splicing mutation in C1qB in a Japanese family with C1q deficiency: a case report in PEDIATRIC RHEUMATOLOGY
  • 2013-12 PAD4 regulates proliferation of multipotent haematopoietic cells by controlling c-myc expression in NATURE COMMUNICATIONS
  • 2013-11 PW02-029 - Single cell fluorescent immunoassay of CINCA/NOMID in PEDIATRIC RHEUMATOLOGY
  • 2013-11 P03-023 – Autoinflammatory diseases database in Japan in PEDIATRIC RHEUMATOLOGY
  • 2013-05 Rapid Detection of Intracellular p47phox and p67phox by Flow Cytometry; Useful Screening Tests for Chronic Granulomatous Disease in JOURNAL OF CLINICAL IMMUNOLOGY
  • 2012-12 Novel mutations of MVK gene in Japanese family members affected with hyperimmunoglobulinemia D and periodic fever syndrome in RHEUMATOLOGY INTERNATIONAL
  • 2012-12 Autosomal-Dominant Chronic Mucocutaneous Candidiasis with STAT1-Mutation can be Complicated with Chronic Active Hepatitis and Hypothyroidism in JOURNAL OF CLINICAL IMMUNOLOGY
  • 2012-06 Delayed onset adenosine deaminase deficiency associated with acute disseminated encephalomyelitis in INTERNATIONAL JOURNAL OF HEMATOLOGY
  • 2011-12 Diagnosis of NLRP3 somatic mosaicism in CINCA/NOMID patients using next-generation sequencing in PEDIATRIC RHEUMATOLOGY
  • 2011-09 Hematopoietic stem cell transplantation with reduced intensity conditioning from a family haploidentical donor in an infant with familial hemophagocytic lymphohistocytosis in INTERNATIONAL JOURNAL OF HEMATOLOGY
  • 2011-06 Clinical and Host Genetic Characteristics of Mendelian Susceptibility to Mycobacterial Diseases in Japan in JOURNAL OF CLINICAL IMMUNOLOGY
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