Published in Eur J Pediatr on March 21, 2012
Conditional Gata2 inactivation results in HSC loss and lymphatic mispatterning. J Clin Invest (2012) 1.41
The evolution of cellular deficiency in GATA2 mutation. Blood (2013) 1.36
MonoMAC syndrome in a patient with a GATA2 mutation: case report and review of the literature. Clin Infect Dis (2013) 1.08
Haematopoietic and immune defects associated with GATA2 mutation. Br J Haematol (2015) 1.04
Primary immunodeficiencies underlying fungal infections. Curr Opin Pediatr (2013) 1.01
GATA2 is required for lymphatic vessel valve development and maintenance. J Clin Invest (2015) 0.93
Recognizing familial myeloid leukemia in adults. Ther Adv Hematol (2013) 0.90
Mutations in the VEGFR3 signaling pathway explain 36% of familial lymphedema. Mol Syndromol (2013) 0.86
A genetic perspective on granulomatous diseases with an emphasis on mycobacterial infections. Semin Immunopathol (2016) 0.81
A woman with warts, leg swelling, and deafness. J Am Acad Dermatol (2014) 0.81
Regulation of GATA-binding protein 2 levels via ubiquitin-dependent degradation by Fbw7: involvement of cyclin B-cyclin-dependent kinase 1-mediated phosphorylation of THR176 in GATA-binding protein 2. J Biol Chem (2015) 0.81
GATA2 and Lmo2 control angiogenesis and lymphangiogenesis via direct transcriptional regulation of neuropilin-2. Angiogenesis (2013) 0.80
Spectrum of myeloid neoplasms and immune deficiency associated with germline GATA2 mutations. Cancer Med (2015) 0.80
Presence of hypogammaglobulinemia and abnormal antibody responses in GATA2 deficiency. J Allergy Clin Immunol (2014) 0.78
Association of GATA2 Deficiency With Severe Primary Epstein-Barr Virus (EBV) Infection and EBV-associated Cancers. Clin Infect Dis (2016) 0.78
Rheumatologic manifestations of the "MonoMAC" syndrome. a systematic review. Clin Rheumatol (2015) 0.77
Anemia of Central Origin. Semin Hematol (2015) 0.76
Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. Blood (2011) 4.21
Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. Nat Genet (2011) 3.41
Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. Blood (2011) 3.16
Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). Nat Genet (2011) 3.05
Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia. Blood (2009) 3.00
The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency. J Exp Med (2011) 2.96
Myelodysplasia in autosomal dominant and sporadic monocytopenia immunodeficiency syndrome: diagnostic features and clinical implications. Haematologica (2011) 1.89
Successful allogeneic hematopoietic stem cell transplantation for GATA2 deficiency. Blood (2011) 1.76
Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases. Am J Med Genet A (2010) 1.53
GATA-2 regulates granulocyte-macrophage progenitor cell function. Blood (2008) 1.45
The Wilms' tumor gene WT1 is a good marker for diagnosis of disease progression of myelodysplastic syndromes. Leukemia (1999) 1.15
Immunity to microbes: lessons from primary immunodeficiencies. Infect Immun (2007) 0.93
Prognostic significance of WT1 mRNA and anti-WT1 antibody levels in peripheral blood in patients with myelodysplastic syndromes. Leuk Res (2010) 0.79
Public policy for the poor? A randomised assessment of the Mexican universal health insurance programme. Lancet (2009) 5.23
Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. Immunity (2006) 4.75
Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination. Nat Immunol (2003) 3.81
Primary immunodeficiencies: 2009 update. J Allergy Clin Immunol (2009) 3.70
AID mutant analyses indicate requirement for class-switch-specific cofactors. Nat Immunol (2003) 3.69
Developmental and species-divergent globin switching are driven by BCL11A. Nature (2009) 3.49
Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Front Immunol (2011) 3.05
Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. J Allergy Clin Immunol (2007) 2.98
Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency. Medicine (Baltimore) (2010) 2.26
Common defects of ABCG2, a high-capacity urate exporter, cause gout: a function-based genetic analysis in a Japanese population. Sci Transl Med (2009) 2.25
Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia. Am J Hum Genet (2008) 2.21
An estrogen receptor (ER)alpha deoxyribonucleic acid-binding domain knock-in mutation provides evidence for nonclassical ER pathway signaling in vivo. Mol Endocrinol (2002) 2.08
Effects of miR-34a on cell growth and chemoresistance in prostate cancer PC3 cells. Biochem Biophys Res Commun (2008) 2.08
Clinical course of patients with WASP gene mutations. Blood (2003) 2.06
HIV-1 nef suppression by virally encoded microRNA. Retrovirology (2004) 2.05
Sinoatrial node dysfunction and early unexpected death of mice with a defect of klotho gene expression. Circulation (2004) 2.00
Phosphorylation of Akt/PKB is required for suppression of cancer cell apoptosis and tumor progression in human colorectal carcinoma. Cancer (2002) 1.94
Synthetic double-stranded RNA poly(I:C) combined with mucosal vaccine protects against influenza virus infection. J Virol (2005) 1.67
MiR-148a attenuates paclitaxel resistance of hormone-refractory, drug-resistant prostate cancer PC3 cells by regulating MSK1 expression. J Biol Chem (2010) 1.66
Dietary fish oil attenuates cardiac hypertrophy in lipotoxic cardiomyopathy due to systemic carnitine deficiency. Cardiovasc Res (2005) 1.63
Functional STAT3 deficiency compromises the generation of human T follicular helper cells. Blood (2012) 1.62
Development of enzyme-linked immunosorbent assays for urinary thiazide-sensitive Na-Cl cotransporter measurement. Am J Physiol Renal Physiol (2013) 1.59
Missense mutations of the BMPR1B (ALK6) gene in childhood idiopathic pulmonary arterial hypertension. Circ J (2012) 1.58
Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner. J Clin Endocrinol Metab (2002) 1.57
Cross-protection against H5N1 influenza virus infection is afforded by intranasal inoculation with seasonal trivalent inactivated influenza vaccine. J Infect Dis (2007) 1.56
Inhibition of cortactin and SIRT1 expression attenuates migration and invasion of prostate cancer DU145 cells. Int J Urol (2011) 1.56
Molecular hydrogen is protective against 6-hydroxydopamine-induced nigrostriatal degeneration in a rat model of Parkinson's disease. Neurosci Lett (2009) 1.54
Impaired KLHL3-mediated ubiquitination of WNK4 causes human hypertension. Cell Rep (2013) 1.52
A role for SIRT1 in cell growth and chemoresistance in prostate cancer PC3 and DU145 cells. Biochem Biophys Res Commun (2008) 1.52
X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options. Blood (2010) 1.51
X-linked thrombocytopenia in a girl. Br J Haematol (2002) 1.48
Post-transcriptional modulation of C/EBPα prompts monocytic differentiation and apoptosis in acute myelomonocytic leukaemia cells. Leuk Res (2012) 1.45
Targeted disruption of Gb3/CD77 synthase gene resulted in the complete deletion of globo-series glycosphingolipids and loss of sensitivity to verotoxins. J Biol Chem (2006) 1.44
MiR-34a attenuates paclitaxel-resistance of hormone-refractory prostate cancer PC3 cells through direct and indirect mechanisms. Prostate (2010) 1.44
A prospective evaluation of the effects of salpingectomy on endometrial lymphocyte clusters in patients with hydrosalpinges. Fertil Steril (2004) 1.39
A phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedside. J Clin Immunol (2013) 1.27
Molecular hydrogen suppresses FcepsilonRI-mediated signal transduction and prevents degranulation of mast cells. Biochem Biophys Res Commun (2009) 1.27
Mitochondrial DNA haplogroup D4a is a marker for extreme longevity in Japan. PLoS One (2008) 1.26
Type two hyper-IgM syndrome caused by mutation in activation-induced cytidine deaminase. J Med Dent Sci (2003) 1.25
The kinase Btk negatively regulates the production of reactive oxygen species and stimulation-induced apoptosis in human neutrophils. Nat Immunol (2012) 1.25
Endoscopic resection of Peutz-Jeghers polyps throughout the small intestine at double-balloon enteroscopy without laparotomy. Gastrointest Endosc (2005) 1.24
Secretory IgA antibodies provide cross-protection against infection with different strains of influenza B virus. J Med Virol (2004) 1.23
Increased expression of plasminogen activator inhibitor-1 in cardiomyocytes contributes to cardiac fibrosis after myocardial infarction. Am J Pathol (2004) 1.22
Analysis of class switch recombination and somatic hypermutation in patients affected with autosomal dominant hyper-IgM syndrome type 2. Clin Immunol (2005) 1.21
The in vitro and in vivo effects of 2-(4-morpholinyl)-8-phenyl-chromone (LY294002), a specific inhibitor of phosphatidylinositol 3'-kinase, in human colon cancer cells. Clin Cancer Res (2002) 1.20
CD8+CD122+ regulatory T cells (Tregs) and CD4+ Tregs cooperatively prevent and cure CD4+ cell-induced colitis. J Immunol (2010) 1.16
Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal guthrie cards. J Pediatr (2009) 1.15
Mitochondrial genome polymorphisms associated with type-2 diabetes or obesity. Mitochondrion (2005) 1.14
Molecular-timetable methods for detection of body time and rhythm disorders from single-time-point genome-wide expression profiles. Proc Natl Acad Sci U S A (2004) 1.14
Quantification of κ-deleting recombination excision circles in Guthrie cards for the identification of early B-cell maturation defects. J Allergy Clin Immunol (2011) 1.13
Enrichment of longevity phenotype in mtDNA haplogroups D4b2b, D4a, and D5 in the Japanese population. Hum Genet (2007) 1.12
Guillain-Barré syndrome associated with normal or exaggerated tendon reflexes. J Neurol (2011) 1.12
Women with mitochondrial haplogroup N9a are protected against metabolic syndrome. Diabetes (2007) 1.11
Combined inhibition of MET and EGFR suppresses proliferation of malignant mesothelioma cells. Carcinogenesis (2009) 1.08
Common variable immunodeficiency classification by quantifying T-cell receptor and immunoglobulin κ-deleting recombination excision circles. J Allergy Clin Immunol (2012) 1.07
Increased expression of plasminogen activator inhibitor-1 with fibrin deposition in a murine model of aging, "Klotho" mouse. Semin Thromb Hemost (2002) 1.07
GnRH regulates early growth response protein 1 transcription through multiple promoter elements. Mol Endocrinol (2002) 1.06
Defective IL-10 signaling in hyper-IgE syndrome results in impaired generation of tolerogenic dendritic cells and induced regulatory T cells. J Exp Med (2011) 1.06
Sirtuin 1 overexpression mice show a reference memory deficit, but not neuroprotection. Biochem Biophys Res Commun (2009) 1.06
Down-regulation of PIK3CG, a catalytic subunit of phosphatidylinositol 3-OH kinase, by CpG hypermethylation in human colorectal carcinoma. Clin Cancer Res (2002) 1.04
Wiskott-Aldrich syndrome protein is involved in alphaIIb beta3-mediated cell adhesion. EMBO Rep (2006) 1.02
Molecular hydrogen as an emerging therapeutic medical gas for neurodegenerative and other diseases. Oxid Med Cell Longev (2012) 1.01
Molecular hydrogen inhibits lipopolysaccharide/interferon γ-induced nitric oxide production through modulation of signal transduction in macrophages. Biochem Biophys Res Commun (2011) 1.01
Severe hemorrhagic colitis caused by dasatinib in Philadelphia chromosome-positive acute lymphoblastic leukemia. Pediatr Hematol Oncol (2009) 1.01
Clinical and genetic characteristics of XIAP deficiency in Japan. J Clin Immunol (2012) 1.00
A murine model of autosomal dominant neurohypophyseal diabetes insipidus reveals progressive loss of vasopressin-producing neurons. J Clin Invest (2003) 1.00
Total viral genome copies and virus-Ig complexes after infection with influenza virus in the nasal secretions of immunized mice. J Gen Virol (2004) 0.99
Outcome in patients with Wiskott-Aldrich syndrome following stem cell transplantation: an analysis of 57 patients in Japan. Br J Haematol (2006) 0.99
WASP (Wiskott-Aldrich syndrome protein) gene mutations and phenotype. Curr Opin Allergy Clin Immunol (2003) 0.99
Lifespan-extending effects of royal jelly and its related substances on the nematode Caenorhabditis elegans. PLoS One (2011) 0.97
RAPID: Resource of Asian Primary Immunodeficiency Diseases. Nucleic Acids Res (2008) 0.97
Impact of macrophage infiltration of skin lesions on survival after allogeneic stem cell transplantation: a clue to refractory graft-versus-host disease. Blood (2009) 0.96
Factors associated with steroid phobia in caregivers of children with atopic dermatitis. Pediatr Dermatol (2012) 0.95
FBP17 Mediates a Common Molecular Step in the Formation of Podosomes and Phagocytic Cups in Macrophages. J Biol Chem (2009) 0.95
Novel Artemis gene mutations of radiosensitive severe combined immunodeficiency in Japanese families. Hum Genet (2003) 0.95
Ulinastatin, a urinary trypsin inhibitor, for the initial treatment of patients with Kawasaki disease: a retrospective study. Circulation (2011) 0.95
IKZF1 deletion is associated with a poor outcome in pediatric B-cell precursor acute lymphoblastic leukemia in Japan. Cancer Med (2013) 0.95
Therapeutic outcome of multifocal Langerhans cell histiocytosis in adults treated with the Special C regimen formulated by the Japan LCH Study Group. Int J Hematol (2012) 0.95
Large scale analysis of pediatric antiviral CD8+ T cell populations reveals sustained, functional and mature responses. Immun Ageing (2006) 0.94
CD40 ligand is a critical effector of Epstein-Barr virus in host cell survival and transformation. Proc Natl Acad Sci U S A (2003) 0.94
Cisplatin induces production of reactive oxygen species via NADPH oxidase activation in human prostate cancer cells. Free Radic Res (2011) 0.94
Clinical significance of nuclear non-phosphorylated beta-catenin in acute myeloid leukaemia and myelodysplastic syndrome. Br J Haematol (2008) 0.94
Hepatitis B virus X (HBX) protein upregulates β-catenin in a human hepatic cell line by sequestering SIRT1 deacetylase. Oncol Rep (2012) 0.94
Selective hyperthermia using magnetoliposomes to target cervical lymph node metastasis in a rabbit tongue tumor model. Cancer Sci (2003) 0.94
F-blast is a useful marker for differentiating hypocellular refractory anemia from aplastic anemia. Int J Hematol (2002) 0.93
Wiskott-Aldrich syndrome presenting with a clinical picture mimicking juvenile myelomonocytic leukaemia. Pediatr Blood Cancer (2012) 0.92
CUL3 gene analysis enables early intervention for pediatric pseudohypoaldosteronism type II in infancy. Pediatr Nephrol (2013) 0.92
Preconditioning by sesquiterpene lactone enhances H2O2-induced Nrf2/ARE activation. Biochem Biophys Res Commun (2008) 0.92
Characterization of myelodysplastic syndrome and aplastic anemia by immunostaining of p53 and hemoglobin F and karyotype analysis: differential diagnosis between refractory anemia and aplastic anemia. Pathol Int (2008) 0.92
CCR1/CCL5 interaction promotes invasion of taxane-resistant PC3 prostate cancer cells by increasing secretion of MMPs 2/9 and by activating ERK and Rac signaling. Cytokine (2013) 0.91
Potential use of procalcitonin concentrations as a diagnostic marker of the PFAPA syndrome. Eur J Pediatr (2006) 0.91
Nationwide survey of patients with primary immunodeficiency diseases in Japan. J Clin Immunol (2011) 0.91
Comprehensive analyses and characterization of haemophagocytic lymphohistiocytosis in Vietnamese children. Br J Haematol (2009) 0.91
MicroRNA expression profiling of NGF-treated PC12 cells revealed a critical role for miR-221 in neuronal differentiation. Neurochem Int (2012) 0.90
Evans syndrome in a patient with Langerhans cell histiocytosis: possible pathogenesis of autoimmunity in LCH. Int J Hematol (2007) 0.90