List of works - Yusuke Okuno

A Cytokine-Based Diagnostic Program in Pediatric Aplastic Anemia and Hypocellular Refractory Cytopenia of Childhood

scientific article published on 20 October 2015

A PKC-mediated backup mechanism of the MXXCW motif-linked switch for initiating tyrosine kinase activities.

scientific article published on 18 January 2006

A case of lamellar ichthyosis due to a novel TGM1 mutation associated with Parkinson's disease

scientific article published on 01 August 2017

A combination of low-dose systemic etretinate and topical calcipotriol/betamethasone dipropionate treatment for hyperkeratosis and itching in Olmsted syndrome associated with a TRPV3 mutation

scientific article published on 29 May 2017

A female patient with incomplete hemophagocytic lymphohistiocytosis caused by a heterozygous XIAP mutation associated with non-random X-chromosome inactivation skewed towards the wild-type XIAP allele.

scientific article published on 7 March 2015

A newly revealed IL36RN mutation in sibling cases complements our IL36RN mutation statistics for generalized pustular psoriasis.

scientific article published on 18 October 2016

A novel CUL4B splice site variant in a young male exhibiting less pronounced features

scientific article published on 04 September 2019

A novel IFIH1 mutation in the pincer domain underlies the clinical features of both Aicardi-Goutières and Singleton-Merten syndromes in a single patient.

scientific article published on 5 August 2017

ACTN1 mutations cause congenital macrothrombocytopenia

scientific article

Aberrant DNA Methylation Is Associated with a Poor Outcome in Juvenile Myelomonocytic Leukemia

scientific article published on 31 December 2015

Abnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations

scientific article published in December 2016

Acute amiodarone promotes drift and early termination of spiral wave re-entry.

scientific article published on 31 July 2010

An empirical Bayesian framework for somatic mutation detection from cancer genome sequencing data

scientific article

An infant with generalized pustular psoriasis and geographic tongue had a heterozygous IL36RN mutation and IgG2 deficiency.

scientific article published on 6 February 2018

Application of extensively targeted next-generation sequencing for the diagnosis of primary immunodeficiencies

scientific article published on 17 March 2016

BCOR and BCORL1 mutations in myelodysplastic syndromes and related disorders.

scientific article

BRCC3 mutations in myeloid neoplasms

scientific article published on 22 May 2015

Bepridil facilitates early termination of spiral-wave reentry in two-dimensional cardiac muscle through an increase of intercellular electrical coupling

scientific article published on 09 December 2010

Biallelic DICER1 mutations in sporadic pleuropulmonary blastoma

scientific article published on 27 March 2014

Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia

scientific article published on 31 July 2017

Biallelic mutations in SZT2 cause a discernible clinical entity with epilepsy, developmental delay, macrocephaly and a dysmorphic corpus callosum

scientific article published on 8 September 2017

CD8+ CD122+ regulatory T cells contain clonally expanded cells with identical CDR3 sequences of the T-cell receptor β-chain.

scientific article published in July 2013

CD8+CD122+ regulatory T cells (Tregs) and CD4+ Tregs cooperatively prevent and cure CD4+ cell-induced colitis

scientific article published on 22 November 2010

Choreito formula for BK virus-associated hemorrhagic cystitis after allogeneic hematopoietic stem cell transplantation.

scientific article published on 23 October 2014

Clinical and genetic features of dyskeratosis congenita, cryptic dyskeratosis congenita, and Hoyeraal-Hreidarsson syndrome in Japan

scientific article published on 2 September 2015

Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes.

scientific article published on 19 January 2017

Clinical utility of next-generation sequencing-based minimal residual disease in paediatric B-cell acute lymphoblastic leukaemia.

scientific article published on 11 November 2016

Clonal leukemic evolution in myelodysplastic syndromes with TET2 and IDH1/2 mutations

scientific article

Clonal selection in xenografted TAM recapitulates the evolutionary process of myeloid leukemia in Down syndrome

scientific article published on 12 March 2013

Combined effects of nifekalant and lidocaine on the spiral-type re-entry in a perfused 2-dimensional layer of rabbit ventricular myocardium.

scientific article published in May 2005

Common Variable Immunodeficiency Caused by FANC Mutations

scientific article

Comprehensive detection of pathogens in immunocompromised children with bloodstream infections by next-generation sequencing

scientific article published on 28 February 2018

Comprehensive detection of viruses in pediatric patients with acute liver failure using next-generation sequencing

scientific article published on 3 October 2017

Congenital Ichthyosis and Recurrent Eczema Associated with a Novel ALOXE3 Mutation.

scientific article published on 14 October 2016

Correlation of rabbit antithymocyte globulin serum levels and clinical outcomes in children who received hematopoietic stem cell transplantation from an alternative donor.

scientific article published on 30 October 2015

DOCK8 mutation diagnosed using whole-exome sequencing of the dried blood spot-derived DNA: a case report of an Iraqi girl diagnosed in Japan

scientific article published on 26 June 2019

Defective Epstein-Barr virus in chronic active infection and haematological malignancy

scientific article published on 21 January 2019

Detection of subclonal SETBP1 and JAK3 mutations in juvenile myelomonocytic leukemia using droplet digital PCR

scientific article published on 20 April 2020

Development of clinical paroxysmal nocturnal haemoglobinuria in children with aplastic anaemia.

scientific article published on 23 June 2017

Diagnostic challenge of Diamond-Blackfan anemia in mothers and children by whole-exome sequencing.

scientific article published on 23 November 2016

Digenic mutations in <i>ALDH2</i> and <i>ADH5</i> impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome

scientific article published on 18 December 2020

Dynamics of clonal evolution in myelodysplastic syndromes

scientific article

Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single-nucleotide deletion in PLP1

scientific article published on 19 April 2019

Enhanced Expression of Anti-CD19 Chimeric Antigen Receptor in piggyBac Transposon-Engineered T Cells.

scientific article published on 22 December 2017

Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia

scientific article published on December 2016

Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia

scientific article

Extrapulmonary tuberculosis mimicking Mendelian susceptibility to mycobacterial disease in a patient with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation

scientific article published in August 2015

Fulminant adenovirus hepatitis after hematopoietic stem cell transplant: Retrospective real-time PCR analysis for adenovirus DNA in two cases

scientific article published on 27 September 2015

Functional characterization of a novel GFI1B mutation causing congenital macrothrombocytopenia

scientific article

GATA2 and secondary mutations in familial myelodysplastic syndromes and pediatric myeloid malignancies.

scientific article published on 28 May 2015

Genomic and molecular characterization of esophageal squamous cell carcinoma

scientific article (publication date: May 2014)

Germline IKAROS mutation associated with primary immunodeficiency that progressed to T-cell acute lymphoblastic leukemia

scientific article published on 18 January 2017

Haploinsufficiency of TNFAIP3 (A20) by germline mutation is involved in autoimmune lymphoproliferative syndrome

scientific article published on 11 November 2016

Human CD8+CXCR3+ T cells have the same function as murine CD8+CD122+ Treg.

scientific article

Identification of Viruses in Cases of Pediatric Acute Encephalitis and Encephalopathy Using Next-Generation Sequencing

scientific article published on 14 September 2016

Immunosuppressive therapy for patients with Down syndrome and idiopathic aplastic anemia

scientific article published on 23 April 2016

Integrated genetic and epigenetic analysis defines novel molecular subgroups in rhabdomyosarcoma

scientific article published on 3 July 2015

Integrated molecular analysis of clear-cell renal cell carcinoma

scientific article

Integrated molecular profiling of juvenile myelomonocytic leukemia.

scientific article published on 2 February 2018

JAK2, MPL, and CALR mutations in children with essential thrombocythemia

scientific article published on 21 May 2016

Lack of CD4⁺CD25⁺FOXP3⁺ regulatory T cells is associated with resistance to intravenous immunoglobulin therapy in patients with Kawasaki disease

scientific article published on 23 January 2013

Late-Onset Combined Immunodeficiency with a Novel IL2RG Mutation and Probable Revertant Somatic Mosaicism.

scientific article published on 26 September 2015

Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia.

scientific article

Markedly High Plasma Thrombopoietin (TPO) Level is a Predictor of Poor Response to Immunosuppressive Therapy in Children With Acquired Severe Aplastic Anemia

scientific article published on 17 November 2015

Mechanisms of destabilization and early termination of spiral wave reentry in the ventricle by a class III antiarrhythmic agent, nifekalant

scientific article published on 25 August 2006

Moderate hypothermia increases the chance of spiral wave collision in favor of self-termination of ventricular tachycardia/fibrillation.

scientific article published on 29 February 2008

Mutations in the gene encoding the E2 conjugating enzyme UBE2T cause Fanconi anemia

scientific article published on June 2015

Novel and recurrent ATP2A2 mutations in Japanese patients with Darier's disease.

scientific article published on December 2016

Optical imaging of spiral waves: pharmacological modification of spiral-type excitations in a 2-dimensional layer of ventricular myocardium.

scientific article

PIEZO1 gene mutation in a Japanese family with hereditary high phosphatidylcholine hemolytic anemia and hemochromatosis-induced diabetes mellitus

scientific article published on 14 March 2016

Paroxysmal nocturnal hemoglobinuria and telomere length predicts response to immunosuppressive therapy in pediatric aplastic anemia.

scientific article

Pharmacological blockade of IKs destabilizes spiral-wave reentry under β-adrenergic stimulation in favor of its early termination

scientific article published on 28 April 2012

Phosphatase and tensin homolog (PTEN) mutation can cause activated phosphatidylinositol 3-kinase δ syndrome-like immunodeficiency

scientific article published on 29 June 2016

Profiling of somatic mutations in acute myeloid leukemia with FLT3-ITD at diagnosis and relapse

scientific article

Publisher Correction: Defective Epstein-Barr virus in chronic active infection and haematological malignancy

scientific article published on 01 March 2019

Rate-dependent shortening of action potential duration increases ventricular vulnerability in failing rabbit heart ⬇️

scientific article published on December 10, 2010

Recurrent MYB rearrangement in blastic plasmacytoid dendritic cell neoplasm.

scientific article published on 27 March 2017

Recurrent mutations in multiple components of the cohesin complex in myeloid neoplasms

scientific article

Redox control of catalytic activities of membrane-associated protein tyrosine kinases.

scientific article

SDR9C7 catalyzes critical dehydrogenation of acylceramides for skin barrier formation

scientific article published on 01 February 2020

Somatic Mutations and Clonal Hematopoiesis in Aplastic Anemia

scientific article

Somatic RHOA mutation in angioimmunoblastic T cell lymphoma.

scientific article published on 12 January 2014

Somatic SETBP1 mutations in myeloid malignancies

scientific article published on 07 July 2013

Somatic mosaicism for a NRAS mutation associates with disparate clinical features in RAS-associated leukoproliferative disease: a report of two cases.

scientific article published on 21 April 2015

Striate Palmoplantar Keratoderma Showing Transgrediens in a Patient Harbouring Heterozygous Nonsense Mutations in Both DSG1 and SERPINB7.

scientific article published on 27 October 2016

Successful T-cell reconstitution after unrelated cord blood transplantation in a patient with complete DiGeorge syndrome

scientific article published on 16 June 2016

The landscape of somatic mutations in Down syndrome-related myeloid disorders

scientific article

The phenotype and clinical course of Japanese Fanconi Anaemia infants is influenced by patient, but not maternal ALDH2 genotype.

scientific article published on 5 July 2016

Transcriptome analysis offers a comprehensive illustration of the genetic background of pediatric acute myeloid leukemia

scientific article published on 01 October 2019

Trichothiodystrophy, complementation group A complicated with squamous cell carcinoma

scientific article published on 12 September 2017

Variant ALDH2 is associated with accelerated progression of bone marrow failure in Japanese Fanconi anemia patients.

scientific article

Whole-exome sequence analysis of ataxia telangiectasia-like phenotype.

scientific article published on 4 March 2014

Whole-exome sequencing reveals the spectrum of gene mutations and the clonal evolution patterns in paediatric acute myeloid leukaemia.

scientific article published on 29 July 2016

X-linked agammaglobulinemia associated with B-precursor acute lymphoblastic leukemia

scientific article

[Inherited bone marrow failure syndromes]

scientific article published on 01 February 2016

List of works by Yusuke Okuno

A Cytokine-Based Diagnostic Program in Pediatric Aplastic Anemia and Hypocellular Refractory Cytopenia of Childhood

A PKC-mediated backup mechanism of the MXXCW motif-linked switch for initiating tyrosine kinase activities.

A case of lamellar ichthyosis due to a novel TGM1 mutation associated with Parkinson's disease

A combination of low-dose systemic etretinate and topical calcipotriol/betamethasone dipropionate treatment for hyperkeratosis and itching in Olmsted syndrome associated with a TRPV3 mutation

A female patient with incomplete hemophagocytic lymphohistiocytosis caused by a heterozygous XIAP mutation associated with non-random X-chromosome inactivation skewed towards the wild-type XIAP allele.

A newly revealed IL36RN mutation in sibling cases complements our IL36RN mutation statistics for generalized pustular psoriasis.

A novel CUL4B splice site variant in a young male exhibiting less pronounced features

A novel IFIH1 mutation in the pincer domain underlies the clinical features of both Aicardi-Goutières and Singleton-Merten syndromes in a single patient.

ACTN1 mutations cause congenital macrothrombocytopenia

Aberrant DNA Methylation Is Associated with a Poor Outcome in Juvenile Myelomonocytic Leukemia

Abnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations

Acute amiodarone promotes drift and early termination of spiral wave re-entry.

An empirical Bayesian framework for somatic mutation detection from cancer genome sequencing data

An infant with generalized pustular psoriasis and geographic tongue had a heterozygous IL36RN mutation and IgG2 deficiency.

Application of extensively targeted next-generation sequencing for the diagnosis of primary immunodeficiencies

BCOR and BCORL1 mutations in myelodysplastic syndromes and related disorders.

BRCC3 mutations in myeloid neoplasms

Bepridil facilitates early termination of spiral-wave reentry in two-dimensional cardiac muscle through an increase of intercellular electrical coupling

Biallelic DICER1 mutations in sporadic pleuropulmonary blastoma

Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia

Biallelic mutations in SZT2 cause a discernible clinical entity with epilepsy, developmental delay, macrocephaly and a dysmorphic corpus callosum

CD8+ CD122+ regulatory T cells contain clonally expanded cells with identical CDR3 sequences of the T-cell receptor β-chain.

CD8+CD122+ regulatory T cells (Tregs) and CD4+ Tregs cooperatively prevent and cure CD4+ cell-induced colitis

Choreito formula for BK virus-associated hemorrhagic cystitis after allogeneic hematopoietic stem cell transplantation.

Clinical and genetic features of dyskeratosis congenita, cryptic dyskeratosis congenita, and Hoyeraal-Hreidarsson syndrome in Japan

Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes.

Clinical utility of next-generation sequencing-based minimal residual disease in paediatric B-cell acute lymphoblastic leukaemia.

Clonal leukemic evolution in myelodysplastic syndromes with TET2 and IDH1/2 mutations

Clonal selection in xenografted TAM recapitulates the evolutionary process of myeloid leukemia in Down syndrome

Combined effects of nifekalant and lidocaine on the spiral-type re-entry in a perfused 2-dimensional layer of rabbit ventricular myocardium.

Common Variable Immunodeficiency Caused by FANC Mutations

Comprehensive detection of pathogens in immunocompromised children with bloodstream infections by next-generation sequencing

Comprehensive detection of viruses in pediatric patients with acute liver failure using next-generation sequencing

Congenital Ichthyosis and Recurrent Eczema Associated with a Novel ALOXE3 Mutation.

Correlation of rabbit antithymocyte globulin serum levels and clinical outcomes in children who received hematopoietic stem cell transplantation from an alternative donor.

DOCK8 mutation diagnosed using whole-exome sequencing of the dried blood spot-derived DNA: a case report of an Iraqi girl diagnosed in Japan

Defective Epstein-Barr virus in chronic active infection and haematological malignancy

Detection of subclonal SETBP1 and JAK3 mutations in juvenile myelomonocytic leukemia using droplet digital PCR

Development of clinical paroxysmal nocturnal haemoglobinuria in children with aplastic anaemia.

Diagnostic challenge of Diamond-Blackfan anemia in mothers and children by whole-exome sequencing.

Digenic mutations in <i>ALDH2</i> and <i>ADH5</i> impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome

Dynamics of clonal evolution in myelodysplastic syndromes

Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single-nucleotide deletion in PLP1

Enhanced Expression of Anti-CD19 Chimeric Antigen Receptor in piggyBac Transposon-Engineered T Cells.

Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia

Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia

Extrapulmonary tuberculosis mimicking Mendelian susceptibility to mycobacterial disease in a patient with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation

Fulminant adenovirus hepatitis after hematopoietic stem cell transplant: Retrospective real-time PCR analysis for adenovirus DNA in two cases

Functional characterization of a novel GFI1B mutation causing congenital macrothrombocytopenia

GATA2 and secondary mutations in familial myelodysplastic syndromes and pediatric myeloid malignancies.

Genomic and molecular characterization of esophageal squamous cell carcinoma

Germline IKAROS mutation associated with primary immunodeficiency that progressed to T-cell acute lymphoblastic leukemia

Haploinsufficiency of TNFAIP3 (A20) by germline mutation is involved in autoimmune lymphoproliferative syndrome

Human CD8+CXCR3+ T cells have the same function as murine CD8+CD122+ Treg.

Identification of Viruses in Cases of Pediatric Acute Encephalitis and Encephalopathy Using Next-Generation Sequencing

Immunosuppressive therapy for patients with Down syndrome and idiopathic aplastic anemia

Integrated genetic and epigenetic analysis defines novel molecular subgroups in rhabdomyosarcoma

Integrated molecular analysis of clear-cell renal cell carcinoma

Integrated molecular profiling of juvenile myelomonocytic leukemia.

JAK2, MPL, and CALR mutations in children with essential thrombocythemia

Lack of CD4⁺CD25⁺FOXP3⁺ regulatory T cells is associated with resistance to intravenous immunoglobulin therapy in patients with Kawasaki disease

Late-Onset Combined Immunodeficiency with a Novel IL2RG Mutation and Probable Revertant Somatic Mosaicism.

Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia.

Markedly High Plasma Thrombopoietin (TPO) Level is a Predictor of Poor Response to Immunosuppressive Therapy in Children With Acquired Severe Aplastic Anemia

Mechanisms of destabilization and early termination of spiral wave reentry in the ventricle by a class III antiarrhythmic agent, nifekalant

Moderate hypothermia increases the chance of spiral wave collision in favor of self-termination of ventricular tachycardia/fibrillation.

Mutations in the gene encoding the E2 conjugating enzyme UBE2T cause Fanconi anemia

Novel and recurrent ATP2A2 mutations in Japanese patients with Darier's disease.

Optical imaging of spiral waves: pharmacological modification of spiral-type excitations in a 2-dimensional layer of ventricular myocardium.

PIEZO1 gene mutation in a Japanese family with hereditary high phosphatidylcholine hemolytic anemia and hemochromatosis-induced diabetes mellitus

Paroxysmal nocturnal hemoglobinuria and telomere length predicts response to immunosuppressive therapy in pediatric aplastic anemia.

Pharmacological blockade of IKs destabilizes spiral-wave reentry under β-adrenergic stimulation in favor of its early termination

Phosphatase and tensin homolog (PTEN) mutation can cause activated phosphatidylinositol 3-kinase δ syndrome-like immunodeficiency

Profiling of somatic mutations in acute myeloid leukemia with FLT3-ITD at diagnosis and relapse

Publisher Correction: Defective Epstein-Barr virus in chronic active infection and haematological malignancy

Rate-dependent shortening of action potential duration increases ventricular vulnerability in failing rabbit heart ⬇️

Recurrent MYB rearrangement in blastic plasmacytoid dendritic cell neoplasm.

Recurrent mutations in multiple components of the cohesin complex in myeloid neoplasms

Redox control of catalytic activities of membrane-associated protein tyrosine kinases.