Published in Pediatr Blood Cancer on April 01, 2010
Integrin-mediated function of Rab GTPases in cancer progression. Mol Cancer (2010) 1.13
Human NK cell lytic granules and regulation of their exocytosis. Front Immunol (2012) 1.10
Familial hemophagocytic lymphohistiocytosis: when rare diseases shed light on immune system functioning. Front Immunol (2014) 1.00
Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism. Orphanet J Rare Dis (2013) 0.97
Regulation of vesicular trafficking and leukocyte function by Rab27 GTPases and their effectors. J Leukoc Biol (2013) 0.91
Human immunodeficiency syndromes affecting human natural killer cell cytolytic activity. Front Immunol (2014) 0.88
An Indian boy with griscelli syndrome type 2: case report and review of literature. Indian J Dermatol (2014) 0.81
Griscelli syndrome type 2: a novel mutation in RAB27A gene with different clinical features in 2 siblings: a diagnostic conundrum. Korean J Pediatr (2014) 0.81
Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2. Mol Genet Metab (2010) 0.78
Hemophagocytic Lymphohistiocytosis: Single-Center Series of 12 Cases from Saudi Arabia. Clin Med Insights Pediatr (2016) 0.76
Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis. Genome Med (2015) 0.76
Cerebellar involvement of Griscelli syndrome type 2. BMJ Case Rep (2014) 0.75
Identifying novel spatiotemporal regulators of innate immunity. Immunol Res (2013) 0.75
Weathering the storm: Improving therapeutic interventions for cytokine storm syndromes by targeting disease pathogenesis. Curr Treatm Opt Rheumatol (2017) 0.75
Ocular involvement in primary immunodeficiency diseases. J Clin Immunol (2013) 0.75
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. Nat Genet (2003) 5.16
Why rare diseases are an important medical and social issue. Lancet (2008) 4.20
Mitochondrial transcription factor A regulates mtDNA copy number in mammals. Hum Mol Genet (2004) 4.11
Synergy among receptors on resting NK cells for the activation of natural cytotoxicity and cytokine secretion. Blood (2005) 3.99
Talking about death with children who have severe malignant disease. N Engl J Med (2004) 3.92
Defective prelamin A processing and muscular and adipocyte alterations in Zmpste24 metalloproteinase-deficient mice. Nat Genet (2002) 3.78
Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncol (2009) 3.60
Expression patterns of NKG2A, KIR, and CD57 define a process of CD56dim NK-cell differentiation uncoupled from NK-cell education. Blood (2010) 3.58
Regulation of human NK-cell cytokine and chemokine production by target cell recognition. Blood (2009) 3.46
Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies: report of the European experience 1968-99. Lancet (2003) 3.44
Cytolytic granule polarization and degranulation controlled by different receptors in resting NK cells. J Exp Med (2005) 3.41
Activation, coactivation, and costimulation of resting human natural killer cells. Immunol Rev (2006) 3.30
Enhanced dendritic cell antigen capture via toll-like receptor-induced actin remodeling. Science (2004) 3.08
Methylation of 12S rRNA is necessary for in vivo stability of the small subunit of the mammalian mitochondrial ribosome. Cell Metab (2009) 3.06
HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). Nat Genet (2006) 3.03
Heat-shock proteins as activators of the innate immune system. Trends Immunol (2002) 2.96
Rapid expansion and long-term persistence of elevated NK cell numbers in humans infected with hantavirus. J Exp Med (2010) 2.89
Education of human natural killer cells by activating killer cell immunoglobulin-like receptors. Blood (2009) 2.88
MTERF3 is a negative regulator of mammalian mtDNA transcription. Cell (2007) 2.76
Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11. Hum Mol Genet (2005) 2.70
Hematopoietic stem cell transplantation (HSCT) in children with juvenile myelomonocytic leukemia (JMML): results of the EWOG-MDS/EBMT trial. Blood (2004) 2.62
Improved outcome in multisystem Langerhans cell histiocytosis is associated with therapy intensification. Blood (2007) 2.61
Novel prognostic subgroups in childhood 11q23/MLL-rearranged acute myeloid leukemia: results of an international retrospective study. Blood (2009) 2.57
Therapy prolongation improves outcome in multisystem Langerhans cell histiocytosis. Blood (2013) 2.46
Reduced atherosclerosis in interleukin-18 deficient apolipoprotein E-knockout mice. Cardiovasc Res (2003) 2.44
Serum vaccine antibody concentrations in children exposed to perfluorinated compounds. JAMA (2012) 2.41
Diagnosis and management of acute myeloid leukemia in children and adolescents: recommendations from an international expert panel. Blood (2012) 2.39
Chemoimmunotherapy for hemophagocytic lymphohistiocytosis: long-term results of the HLH-94 treatment protocol. Blood (2011) 2.35
Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients. Blood (2007) 2.32
Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11. Am J Hum Genet (2009) 2.29
Carbon nanotubes degraded by neutrophil myeloperoxidase induce less pulmonary inflammation. Nat Nanotechnol (2010) 2.26
Langerhans cell histiocytosis reveals a new IL-17A-dependent pathway of dendritic cell fusion. Nat Med (2007) 2.21
Mutations in CBL occur frequently in juvenile myelomonocytic leukemia. Blood (2009) 2.15
Activation of NK cells by an endocytosed receptor for soluble HLA-G. PLoS Biol (2006) 2.08
Identification of distinct molecular phenotypes in acute megakaryoblastic leukemia by gene expression profiling. Proc Natl Acad Sci U S A (2006) 2.08
Late-onset neutropenia following rituximab therapy in rheumatic diseases: association with B lymphocyte depletion and infections. Arthritis Rheum (2011) 2.06
NK cell responses to cytomegalovirus infection lead to stable imprints in the human KIR repertoire and involve activating KIRs. Blood (2013) 2.04
The neuronal chemokine CX3CL1/fractalkine selectively recruits NK cells that modify experimental autoimmune encephalomyelitis within the central nervous system. FASEB J (2006) 2.04
A small-molecule inhibitor of type III secretion inhibits different stages of the infectious cycle of Chlamydia trachomatis. Proc Natl Acad Sci U S A (2006) 2.01
Improved outcome in pediatric relapsed acute myeloid leukemia: results of a randomized trial on liposomal daunorubicin by the International BFM Study Group. J Clin Oncol (2013) 1.97
Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity. Am J Hum Genet (2012) 1.94
Memory CD8+ T cells provide an early source of IFN-gamma. J Immunol (2003) 1.93
A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes. Blood (2012) 1.92
KIR acquisition probabilities are independent of self-HLA class I ligands and increase with cellular KIR expression. Blood (2009) 1.92
LRPPRC is necessary for polyadenylation and coordination of translation of mitochondrial mRNAs. EMBO J (2011) 1.89
Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A. Hum Mutat (2006) 1.88
Detection of human cytomegalovirus in medulloblastomas reveals a potential therapeutic target. J Clin Invest (2011) 1.87
Interferon-alpha-induced TRAIL on natural killer cells is associated with control of hepatitis C virus infection. Gastroenterology (2010) 1.85
Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5). Blood (2012) 1.82
CD1d-dependent activation of NKT cells aggravates atherosclerosis. J Exp Med (2004) 1.80
The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. Blood (2005) 1.80
Size-dependent cytotoxicity of silver nanoparticles in human lung cells: the role of cellular uptake, agglomeration and Ag release. Part Fibre Toxicol (2014) 1.77
Integrin-dependent organization and bidirectional vesicular traffic at cytotoxic immune synapses. Immunity (2009) 1.74
Presence of FLT3-ITD and high BAALC expression are independent prognostic markers in childhood acute myeloid leukemia. Blood (2011) 1.74
Long-term follow-up of Langerhans cell histiocytosis: 39 years' experience at a single centre. Acta Paediatr (2005) 1.72
The liver X receptor-{beta} is essential for maintaining cholesterol homeostasis in the testis. Endocrinology (2005) 1.69
MTERF4 regulates translation by targeting the methyltransferase NSUN4 to the mammalian mitochondrial ribosome. Cell Metab (2011) 1.68
Parents' intellectual and emotional awareness of their child's impending death to cancer: a population-based long-term follow-up study. Lancet Oncol (2007) 1.67
Variable expression of Toll-like receptor in murine innate and adaptive immune cell lines. Int Immunol (2002) 1.66
Liver X receptors in the central nervous system: from lipid homeostasis to neuronal degeneration. Proc Natl Acad Sci U S A (2002) 1.65
Haematopoietic stem cell transplantation in haemophagocytic lymphohistiocytosis. Br J Haematol (2005) 1.64
A population-based nationwide study of parents' perceptions of a questionnaire on their child's death due to cancer. Lancet (2004) 1.64
Involvement of estrogen receptor beta in terminal differentiation of mammary gland epithelium. Proc Natl Acad Sci U S A (2002) 1.63
Clinical and pathological characterization of Mesoamerican nephropathy: a new kidney disease in Central America. Am J Kidney Dis (2013) 1.62
Minimal requirement for induction of natural cytotoxicity and intersection of activation signals by inhibitory receptors. Blood (2009) 1.62
Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairment. Eur J Hum Genet (2003) 1.56
A role for oxidative stress in apoptosis: oxidation and externalization of phosphatidylserine is required for macrophage clearance of cells undergoing Fas-mediated apoptosis. J Immunol (2002) 1.56
Parvovirus B19 infection in children with acute lymphoblastic leukemia is associated with cytopenia resulting in prolonged interruptions of chemotherapy. Clin Infect Dis (2008) 1.55
Vitrification versus controlled-rate freezing in cryopreservation of human ovarian tissue. Hum Reprod (2009) 1.55
Duration and morbidity of newly diagnosed idiopathic thrombocytopenic purpura in children: A prospective Nordic study of an unselected cohort. J Pediatr (2003) 1.54
Incidence and pattern of radiological central nervous system Langerhans cell histiocytosis in children: a population based study. Pediatr Blood Cancer (2011) 1.54
A switch in metabolism precedes increased mitochondrial biogenesis in respiratory chain-deficient mouse hearts. Proc Natl Acad Sci U S A (2004) 1.53
Anxiety and depression in parents 4-9 years after the loss of a child owing to a malignancy: a population-based follow-up. Psychol Med (2004) 1.53
Role of estrogen receptor beta in colonic epithelium. Proc Natl Acad Sci U S A (2006) 1.49
Anxiety is contagious-symptoms of anxiety in the terminally ill child affect long-term psychological well-being in bereaved parents. Pediatr Blood Cancer (2010) 1.48
Toxicology of engineered nanomaterials: focus on biocompatibility, biodistribution and biodegradation. Biochim Biophys Acta (2010) 1.48
Organ-specific features of natural killer cells. Nat Rev Immunol (2011) 1.48
Autoimmune hepatitis in children in Eastern Denmark. J Pediatr Gastroenterol Nutr (2012) 1.47
Bi-orientation of achiasmatic chromosomes in meiosis I oocytes contributes to aneuploidy in mice. Nat Genet (2007) 1.47
Determination of structural principles underlying three different modes of lymphocytic choriomeningitis virus escape from CTL recognition. J Immunol (2004) 1.46
Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array. Hum Mutat (2008) 1.45
Mechanisms of carbon nanotube-induced toxicity: focus on oxidative stress. Toxicol Appl Pharmacol (2012) 1.45
DNAX accessory molecule-1 mediated recognition of freshly isolated ovarian carcinoma by resting natural killer cells. Cancer Res (2007) 1.45
Aberrant mitochondrial iron distribution and maturation arrest characterize early erythroid precursors in low-risk myelodysplastic syndromes. Blood (2005) 1.44
Predicting the risk of multiple endocrine neoplasia type 1 for patients with commonly occurring endocrine tumors. Eur J Endocrinol (2012) 1.43
Ablation of the pro-apoptotic protein Bax protects mice from glucocorticoid-induced bone growth impairment. PLoS One (2012) 1.41