Megumu K. Saito

Publications

• IPSCs Established from a Female Patient with Xq22 Deletion Confirm That BEX2 Escapes from X-chromosome Inactivation
  Congenital Anomalies. Nov, 2020  |   Pubmed ID: 33244819
• Pluripotent Stem Cell Model of Shwachman-Diamond Syndrome Reveals Apoptotic Predisposition of Hemoangiogenic Progenitors
  Scientific Reports. 09, 2020  |   Pubmed ID: 32908229
• Induced Pluripotent Stem Cell-derived Monocytic Cell Lines from a NOMID Patient Serve As a Screening Platform for Modulating NLRP3 Inflammasome Activity
  PloS One. 2020  |   Pubmed ID: 32810141
• Clinical Characteristics and Treatment of 50 Cases of Blau Syndrome in Japan Confirmed by Genetic Analysis of the Mutation
  Annals of the Rheumatic Diseases. 11, 2020  |   Pubmed ID: 32647028
• Blau Syndrome: NOD2-related Systemic Autoinflammatory Granulomatosis
  Giornale Italiano Di Dermatologia E Venereologia : Organo Ufficiale, Societa Italiana Di Dermatologia E Sifilografia. Jul, 2020  |   Pubmed ID: 32618442
• Biomimetic Aorta-gonad-Mesonephros-on-a-Chip to Study Human Developmental Hematopoiesis
  Biomedical Microdevices. 05, 2020  |   Pubmed ID: 32377802
• Down Syndrome-related Transient Abnormal Myelopoiesis is Attributed to a Specific Erythro-megakaryocytic Subpopulation with GATA1 Mutation
  Haematologica. Apr, 2020  |   Pubmed ID: 32354872
• Recapitulating the Human Segmentation Clock with Pluripotent Stem Cells
  Nature. 04, 2020  |   Pubmed ID: 32238941
• Genome-wide Microhomologies Enable Precise Template-free Editing of Biologically Relevant Deletion Mutations
  Nature Communications. 10, 2019  |   Pubmed ID: 31649251
• Functional Evaluation of the Pathological Significance of MEFV Variants Using Induced Pluripotent Stem Cell-derived Macrophages
  The Journal of Allergy and Clinical Immunology. 11, 2019  |   Pubmed ID: 31542286
• IPSC-derived Functional Human Neuromuscular Junctions Model the Pathophysiology of Neuromuscular Diseases
  JCI Insight. 09, 2019  |   Pubmed ID: 31534050
• Induced Pluripotent Stem Cells Representing Nakajo-Nishimura Syndrome
  Inflammation and Regeneration. 2019  |   Pubmed ID: 31143302
• Beneficial Effect of Methotrexate on a Child Case of Nakajo-Nishimura Syndrome
  The Journal of Dermatology. 10, 2019  |   Pubmed ID: 31058345
• Induction of Human Pluripotent Stem Cell-derived Natural Killer Cells for Immunotherapy Under Chemically Defined Conditions
  Biochemical and Biophysical Research Communications. Jul, 2019  |   Pubmed ID: 30948156
• Generation of a Human Induced Pluripotent Stem Cell Line, BRCi001-A, Derived from a Patient with Mucopolysaccharidosis Type I
  Stem Cell Research. 04, 2019  |   Pubmed ID: 30849633
• Verification and Rectification of Cell Type-specific Splicing of a Seckel Syndrome-associated ATR Mutation Using IPS Cell Model
  Journal of Human Genetics. May, 2019  |   Pubmed ID: 30846821
• Application of Induced Pluripotent Stem Cells to Primary Immunodeficiency Diseases
  Experimental Hematology. 03, 2019  |   Pubmed ID: 30664903
• Rescue of Recurrent Deep Intronic Mutation Underlying Cell Type-dependent Quantitative NEMO Deficiency
  The Journal of Clinical Investigation. 02, 2019  |   Pubmed ID: 30422821
• Disease Modeling of Immunological Disorders Using Induced Pluripotent Stem Cells
  Immunological Medicine. Jun, 2018  |   Pubmed ID: 30618339
• Efficient Derivation of Sympathetic Neurons from Human Pluripotent Stem Cells with a Defined Condition
  Scientific Reports. Aug, 2018  |   Pubmed ID: 30150715
• Lysosomal Membrane Permeabilization Causes Secretion of IL-1β in Human Vascular Smooth Muscle Cells
  Inflammation Research : Official Journal of the European Histamine Research Society ... [et Al.]. Oct, 2018  |   Pubmed ID: 30136196
• Pluripotent Stem Cell Model of Nakajo-Nishimura Syndrome Untangles Proinflammatory Pathways Mediated by Oxidative Stress
  Stem Cell Reports. 06, 2018  |   Pubmed ID: 29731430
• Human AK2 Links Intracellular Bioenergetic Redistribution to the Fate of Hematopoietic Progenitors
  Biochemical and Biophysical Research Communications. 03, 2018  |   Pubmed ID: 29462620
• Pluripotent Stem Cell Models of Blau Syndrome Reveal an IFN-γ-dependent Inflammatory Response in Macrophages
  The Journal of Allergy and Clinical Immunology. 01, 2018  |   Pubmed ID: 28587749
• Human Pluripotent Stem Cell-derived Erythropoietin-producing Cells Ameliorate Renal Anemia in Mice
  Science Translational Medicine. Sep, 2017  |   Pubmed ID: 28954928
• Microarray Analyses of Otospheres Derived from the Cochlea in the Inner Ear Identify Putative Transcription Factors That Regulate the Characteristics of Otospheres
  PloS One. 2017  |   Pubmed ID: 28662075
• Hypoxic Adaptation of Leukemic Cells Infiltrating the CNS Affords a Therapeutic Strategy Targeting VEGFA
  Blood. 06, 2017  |   Pubmed ID: 28424164
• Identification of a High-Frequency Somatic NLRC4 Mutation As a Cause of Autoinflammation by Pluripotent Cell-Based Phenotype Dissection
  Arthritis & Rheumatology (Hoboken, N.J.). 02, 2017  |   Pubmed ID: 27788288
• Laminin-guided Highly Efficient Endothelial Commitment from Human Pluripotent Stem Cells
  Scientific Reports. 11, 2016  |   Pubmed ID: 27804979
• A Portable Platform for Stepwise Hematopoiesis from Human Pluripotent Stem Cells Within PET-reinforced Collagen Sponges
  International Journal of Hematology. Dec, 2016  |   Pubmed ID: 27599982
• Mislocalization of Syntaxin-1 and Impaired Neurite Growth Observed in a Human IPSC Model for STXBP1-related Epileptic Encephalopathy
  Epilepsia. Apr, 2016  |   Pubmed ID: 26918652
• Establishment of Isogenic IPSCs from an Individual with SCN1A Mutation Mosaicism As a Model for Investigating Neurocognitive Impairment in Dravet Syndrome
  Journal of Human Genetics. Jun, 2016  |   Pubmed ID: 26841829
• GSK3β Inhibition Activates the CDX/HOX Pathway and Promotes Hemogenic Endothelial Progenitor Differentiation from Human Pluripotent Stem Cells
  Experimental Hematology. Jan, 2016  |   Pubmed ID: 26477526
• Modeling the Early Phenotype at the Neuromuscular Junction of Spinal Muscular Atrophy Using Patient-derived IPSCs
  Stem Cell Reports. Apr, 2015  |   Pubmed ID: 25801509
• Pluripotent Cell Models of Fanconi Anemia Identify the Early Pathological Defect in Human Hemoangiogenic Progenitors
  Stem Cells Translational Medicine. Apr, 2015  |   Pubmed ID: 25762002
• Enhanced Chondrogenesis of Induced Pluripotent Stem Cells from Patients with Neonatal-onset Multisystem Inflammatory Disease Occurs Via the Caspase 1-independent CAMP/protein Kinase A/CREB Pathway
  Arthritis & Rheumatology (Hoboken, N.J.). Jan, 2015  |   Pubmed ID: 25302486
• Somatic NLRP3 Mosaicism in Muckle-Wells Syndrome. A Genetic Mechanism Shared by Different Phenotypes of Cryopyrin-associated Periodic Syndromes
  Annals of the Rheumatic Diseases. Mar, 2015  |   Pubmed ID: 24326009
• Genetic Correction of HAX1 in Induced Pluripotent Stem Cells from a Patient with Severe Congenital Neutropenia Improves Defective Granulopoiesis
  Haematologica. Jan, 2014  |   Pubmed ID: 23975175
• Robust and Highly-efficient Differentiation of Functional Monocytic Cells from Human Pluripotent Stem Cells Under Serum- and Feeder Cell-free Conditions
  PloS One. 2013  |   Pubmed ID: 23573196
• Induced Pluripotent Stem Cells from CINCA Syndrome Patients As a Model for Dissecting Somatic Mosaicism and Drug Discovery
  Blood. Aug, 2012  |   Pubmed ID: 22723549
• Detection of Base Substitution-Type Somatic Mosaicism of the NLRP3 Gene with >99.9% Statistical Confidence by Massively Parallel Sequencing
  DNA Research : an International Journal for Rapid Publication of Reports on Genes and Genomes. Jan, 2012  |   Pubmed ID: 22279087
• Identification of Hepatic Niche Harboring Human Acute Lymphoblastic Leukemic Cells Via the SDF-1/CXCR4 Axis
  PloS One. 2011  |   Pubmed ID: 22069486
• [CAPS: Cryopyrin-associated Periodic Syndrome]
  Nihon Rinsho Men'eki Gakkai Kaishi = Japanese Journal of Clinical Immunology. 2011  |   Pubmed ID: 22041424
• A Novel Serum-free Monolayer Culture for Orderly Hematopoietic Differentiation of Human Pluripotent Cells Via Mesodermal Progenitors
  PloS One. 2011  |   Pubmed ID: 21818303
• High Incidence of NLRP3 Somatic Mosaicism in Patients with Chronic Infantile Neurologic, Cutaneous, Articular Syndrome: Results of an International Multicenter Collaborative Study
  Arthritis and Rheumatism. Nov, 2011  |   Pubmed ID: 21702021
• [Inflammasomes and Related Diseases]
  Nihon Rinsho Men'eki Gakkai Kaishi = Japanese Journal of Clinical Immunology. 2011  |   Pubmed ID: 21372510