Published in Br J Haematol on September 01, 2002
Relevance of laboratory testing for the diagnosis of primary immunodeficiencies: a review of case-based examples of selected immunodeficiencies. Clin Mol Allergy (2011) 0.81
High incidence of lymphomas in a subgroup of Wiskott-Aldrich syndrome patients. Br J Haematol (2003) 0.80
A Dual Reporter Splicing Assay Using HaloTag-containing Proteins. Curr Chem Genomics (2012) 0.78
Hematopoietic Stem Cell Transplantation for X-Linked Thrombocytopenia With Mutations in the WAS gene. J Clin Immunol (2014) 0.76
Bif-1 interacts with Beclin 1 through UVRAG and regulates autophagy and tumorigenesis. Nat Cell Biol (2007) 8.29
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
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
Clinical course of patients with WASP gene mutations. Blood (2003) 2.06
The basement membrane of hair follicle stem cells is a muscle cell niche. Cell (2011) 1.88
c-MIR, a human E3 ubiquitin ligase, is a functional homolog of herpesvirus proteins MIR1 and MIR2 and has similar activity. J Biol Chem (2003) 1.66
Functional STAT3 deficiency compromises the generation of human T follicular helper cells. Blood (2012) 1.62
Impaired induction of DNA lesions during immunoglobulin class-switch recombination in humans influences end-joining repair. Proc Natl Acad Sci U S A (2010) 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
Impaired KLHL3-mediated ubiquitination of WNK4 causes human hypertension. Cell Rep (2013) 1.52
X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options. Blood (2010) 1.51
The block in immunoglobulin class switch recombination caused by activation-induced cytidine deaminase deficiency occurs prior to the generation of DNA double strand breaks in switch mu region. J Immunol (2003) 1.43
Chronic active Epstein-Barr virus infection with mosquito allergy successfully treated with reduced-intensity unrelated allogeneic bone marrow transplantation in a boy. Pediatr Transplant (2008) 1.42
Repair of U/G and U/A in DNA by UNG2-associated repair complexes takes place predominantly by short-patch repair both in proliferating and growth-arrested cells. Nucleic Acids Res (2004) 1.41
Transcriptome-based systematic identification of extracellular matrix proteins. Proc Natl Acad Sci U S A (2008) 1.31
Branched N-glycans regulate the biological functions of integrins and cadherins. FEBS J (2008) 1.29
A phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedside. J Clin Immunol (2013) 1.27
FLT3 mutations in the activation loop of tyrosine kinase domain are frequently found in infant ALL with MLL rearrangements and pediatric ALL with hyperdiploidy. Blood (2003) 1.26
N-glycosylation of the beta-propeller domain of the integrin alpha5 subunit is essential for alpha5beta1 heterodimerization, expression on the cell surface, and its biological function. J Biol Chem (2006) 1.25
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
B cells from hyper-IgM patients carrying UNG mutations lack ability to remove uracil from ssDNA and have elevated genomic uracil. J Exp Med (2005) 1.21
Analysis of class switch recombination and somatic hypermutation in patients affected with autosomal dominant hyper-IgM syndrome type 2. Clin Immunol (2005) 1.21
GATA-2 anomaly and clinical phenotype of a sporadic case of lymphedema, dendritic cell, monocyte, B- and NK-cell (DCML) deficiency, and myelodysplasia. Eur J Pediatr (2012) 1.17
Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal guthrie cards. J Pediatr (2009) 1.15
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
A mutual regulation between cell-cell adhesion and N-glycosylation: implication of the bisecting GlcNAc for biological functions. J Proteome Res (2009) 1.12
N-glycosylation of the I-like domain of beta1 integrin is essential for beta1 integrin expression and biological function: identification of the minimal N-glycosylation requirement for alpha5beta1. J Biol Chem (2009) 1.10
Kif26b, a kinesin family gene, regulates adhesion of the embryonic kidney mesenchyme. Proc Natl Acad Sci U S A (2010) 1.09
Common variable immunodeficiency classification by quantifying T-cell receptor and immunoglobulin κ-deleting recombination excision circles. J Allergy Clin Immunol (2012) 1.07
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
Glycyrrhizin and isoliquiritigenin suppress the LPS sensor toll-like receptor 4/MD-2 complex signaling in a different manner. J Leukoc Biol (2012) 1.02
Wiskott-Aldrich syndrome protein is involved in alphaIIb beta3-mediated cell adhesion. EMBO Rep (2006) 1.02
Clinical and genetic characteristics of XIAP deficiency in Japan. J Clin Immunol (2012) 1.00
Hyper-immunoglobulin M syndromes caused by intrinsic B-lymphocyte defects. Immunol Rev (2005) 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
Anti-invasive and metastatic activities of evodiamine. Biol Pharm Bull (2002) 0.98
RAPID: Resource of Asian Primary Immunodeficiency Diseases. Nucleic Acids Res (2008) 0.97
Factors associated with steroid phobia in caregivers of children with atopic dermatitis. Pediatr Dermatol (2012) 0.95
Succession of internal sulfur cycles and sulfur-oxidizing bacterial communities in microaerophilic wastewater biofilms. Appl Environ Microbiol (2005) 0.95
Distinct impact of imatinib on growth at prepubertal and pubertal ages of children with chronic myeloid leukemia. J Pediatr (2011) 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
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
Severe hyperbilirubinemia in a 10-year-old girl with a combined disorder of hereditary spherocytosis and Gilbert syndrome. Pediatr Int (2007) 0.94
Polydom/SVEP1 is a ligand for integrin α9β1. J Biol Chem (2012) 0.93
Activation induced deaminase C-terminal domain links DNA breaks to end protection and repair during class switch recombination. Proc Natl Acad Sci U S A (2014) 0.92
CUL3 gene analysis enables early intervention for pediatric pseudohypoaldosteronism type II in infancy. Pediatr Nephrol (2013) 0.92
N-acetylglucosaminyltransferase III expression is regulated by cell-cell adhesion via the E-cadherin-catenin-actin complex. Proteomics (2008) 0.91
Basement membrane assembly of the integrin α8β1 ligand nephronectin requires Fraser syndrome-associated proteins. J Cell Biol (2012) 0.91
Aberrant induction of LMO2 by the E2A-HLF chimeric transcription factor and its implication in leukemogenesis of B-precursor ALL with t(17;19). Blood (2010) 0.91
Nationwide survey of patients with primary immunodeficiency diseases in Japan. J Clin Immunol (2011) 0.91
Evans syndrome in a patient with Langerhans cell histiocytosis: possible pathogenesis of autoimmunity in LCH. Int J Hematol (2007) 0.90
Importance of N-glycosylation on alpha5beta1 integrin for its biological functions. Biol Pharm Bull (2009) 0.90
Quantitative assessment of PTPN11 or RAS mutations at the neonatal period and during the clinical course in patients with juvenile myelomonocytic leukaemia. Br J Haematol (2009) 0.90
Two brothers with ataxia-telangiectasia-like disorder with lung adenocarcinoma. J Pediatr (2009) 0.89
Activin A binds to perlecan through its pro-region that has heparin/heparan sulfate binding activity. J Biol Chem (2010) 0.89
Multiple reversions of an IL2RG mutation restore T cell function in an X-linked severe combined immunodeficiency patient. J Clin Immunol (2012) 0.89
Regulation of annexin II by cytokine-initiated signaling pathways and E2A-HLF oncoprotein. Blood (2003) 0.89
Analysis of mutations and recombination activity in RAG-deficient patients. Clin Immunol (2010) 0.88
A conditioning regimen of busulfan, fludarabine, and melphalan for allogeneic stem cell transplantation in children with juvenile myelomonocytic leukemia. Pediatr Transplant (2008) 0.88
Fusion of an AF4-related gene, LAF4, to MLL in childhood acute lymphoblastic leukemia with t(2;11)(q11;q23). Oncogene (2003) 0.88
A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair. J Exp Med (2007) 0.87
Ultra-high-sensitivity stable-isotope probing of rRNA by high-throughput sequencing of isopycnic centrifugation gradients. Environ Microbiol Rep (2015) 0.87
A non-obese boy with Prader-Willi syndrome shows cardiopulmonary impairment due to severe kyphoscoliosis. Am J Med Genet A (2006) 0.87
An analysis of epilepsy with chromosomal abnormalities. Brain Dev (2005) 0.87
Isolation, characterization, and in situ detection of a novel chemolithoautotrophic sulfur-oxidizing bacterium in wastewater biofilms growing under microaerophilic conditions. Appl Environ Microbiol (2004) 0.87
Differential effects of antioxidants on the in vitro invasion, growth and lung metastasis of murine colon cancer cells. Biol Pharm Bull (2007) 0.86
Outcomes of childhood pulmonary arterial hypertension in BMPR2 and ALK1 mutation carriers. Am J Cardiol (2012) 0.86
Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis. J Leukoc Biol (2013) 0.85
Up-regulation of survivin by the E2A-HLF chimera is indispensable for the survival of t(17;19)-positive leukemia cells. J Biol Chem (2009) 0.85