Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome.

PubWeight™: 0.78‹?›

🔗 View Article (PMID 21771083)

Published in Pediatr Allergy Immunol on March 29, 2011

Authors

Zhi-Yong Zhang1, Xiao-Dong Zhao, Li-Ping Jiang, En-Mei Liu, Yu-Xia Cui, Mo Wang, Hong Wei, Jie Yu, Yun-Fei An, Xi-Qiang Yang

Author Affiliations

1: Division of Immunology, Children's Hospital, Chongqing Medical University, Chongqing, China.

Articles by these authors

The Oct4 and Nanog transcription network regulates pluripotency in mouse embryonic stem cells. Nat Genet (2006) 20.76

Promotion of tumorigenesis by heterozygous disruption of the beclin 1 autophagy gene. J Clin Invest (2003) 16.67

An inhibitor of NEDD8-activating enzyme as a new approach to treat cancer. Nature (2009) 8.44

The evolutionarily conserved domain of Beclin 1 is required for Vps34 binding, autophagy and tumor suppressor function. Autophagy (2005) 4.02

MLN4924, a NEDD8-activating enzyme inhibitor, is active in diffuse large B-cell lymphoma models: rationale for treatment of NF-{kappa}B-dependent lymphoma. Blood (2010) 2.49

Evaluation of the proteasome inhibitor MLN9708 in preclinical models of human cancer. Cancer Res (2010) 2.27

ARL1, a LOB-domain protein required for adventitious root formation in rice. Plant J (2005) 2.24

Hypoxia-inducible factor 1 is a master regulator of breast cancer metastatic niche formation. Proc Natl Acad Sci U S A (2011) 2.17

Anthracycline chemotherapy inhibits HIF-1 transcriptional activity and tumor-induced mobilization of circulating angiogenic cells. Proc Natl Acad Sci U S A (2009) 1.95

Black soot and the survival of Tibetan glaciers. Proc Natl Acad Sci U S A (2009) 1.93

An Adaptable XML Based Approach for Scientific Data Management and Integration. Proc SPIE Int Soc Opt Eng (2008) 1.81

Homocysteine impairs coronary artery endothelial function by inhibiting tetrahydrobiopterin in patients with hyperhomocysteinemia. Am J Physiol Endocrinol Metab (2010) 1.74

Hypoxia-inducible factor-dependent breast cancer-mesenchymal stem cell bidirectional signaling promotes metastasis. J Clin Invest (2012) 1.71

Inhibitors of hypoxia-inducible factor 1 block breast cancer metastatic niche formation and lung metastasis. J Mol Med (Berl) (2012) 1.67

Psychological perspectives on the changing nature of retirement. Am Psychol (2011) 1.66

Curcumin attenuates acrylamide-induced cytotoxicity and genotoxicity in HepG2 cells by ROS scavenging. J Agric Food Chem (2008) 1.57

Collagen prolyl hydroxylases are essential for breast cancer metastasis. Cancer Res (2013) 1.51

Microplasmin and tissue plasminogen activator: comparison of therapeutic effects in rat stroke model at multiparametric MR imaging. Radiology (2007) 1.47

Deep-level diversity and leadership. Am Psychol (2010) 1.40

Gene transfer of endothelial nitric oxide synthase attenuates flow-induced pulmonary hypertension in rabbits. Ann Thorac Surg (2008) 1.39

Radiosensitization of human pancreatic cancer cells by MLN4924, an investigational NEDD8-activating enzyme inhibitor. Cancer Res (2011) 1.31

Genome-wide siRNA screen for modulators of cell death induced by proteasome inhibitor bortezomib. Cancer Res (2010) 1.31

Real-time contrast-enhanced ultrasound in diagnosing of focal spleen lesions. Eur J Radiol (2011) 1.31

Rapamycin and other longevity-promoting compounds enhance the generation of mouse induced pluripotent stem cells. Aging Cell (2011) 1.26

Lipid regulation effects of Polygoni Multiflori Radix, its processed products and its major substances on steatosis human liver cell line L02. J Ethnopharmacol (2011) 1.24

Mechanistic and therapeutic implications of angiogenesis in endometriosis. Reprod Sci (2008) 1.24

A dual-targeting anticancer approach: soil and seed principle. Radiology (2011) 1.21

Recognition of gut microbiota by NOD2 is essential for the homeostasis of intestinal intraepithelial lymphocytes. J Exp Med (2013) 1.21

Piglets cloned from induced pluripotent stem cells. Cell Res (2012) 1.19

A rice glutamate receptor-like gene is critical for the division and survival of individual cells in the root apical meristem. Plant Cell (2005) 1.18

Genetic variability of respiratory syncytial viruses (RSV) prevalent in Southwestern China from 2006 to 2009: emergence of subgroup B and A RSV as dominant strains. J Clin Microbiol (2010) 1.15

Detection of enterovirus 68 as one of the commonest types of enterovirus found in patients with acute respiratory tract infection in China. J Med Microbiol (2013) 1.15

Tunable SERS in gold nanorod dimers through strain control on an elastomeric substrate. Nano Lett (2010) 1.13

Highly selective and sensitive near-infrared-fluorescent probes for the detection of cellular hydrogen sulfide and the imaging of H2S in mice. Chem Asian J (2014) 1.12

High-throughput synthesis of single-layer MoS2 nanosheets as a near-infrared photothermal-triggered drug delivery for effective cancer therapy. ACS Nano (2014) 1.12

MER3 is required for normal meiotic crossover formation, but not for presynaptic alignment in rice. J Cell Sci (2009) 1.10

Discovery of a distinct superfamily of Kunitz-type toxin (KTT) from tarantulas. PLoS One (2008) 1.10

Clinical report of three cases of acute radiation sickness from a (60)Co radiation accident in Henan Province in China. J Radiat Res (2008) 1.09

The role of rice HEI10 in the formation of meiotic crossovers. PLoS Genet (2012) 1.08

Curcumin induces apoptosis through mitochondrial hyperpolarization and mtDNA damage in human hepatoma G2 cells. Free Radic Biol Med (2007) 1.08

Cutaneous GVHD is associated with the expansion of tissue-localized Th1 and not Th17 cells. Blood (2010) 1.07

Targeting ECM-integrin interaction with liposome-encapsulated small interfering RNAs inhibits the growth of human prostate cancer in a bone xenograft imaging model. Mol Ther (2005) 1.07

Treatment of rodent liver tumor with combretastatin a4 phosphate: noninvasive therapeutic evaluation using multiparametric magnetic resonance imaging in correlation with microangiography and histology. Invest Radiol (2009) 1.07

(E)-3-Dimethyl-amino-1-(2-pyrid-yl)prop-2-en-1-one. Acta Crystallogr Sect E Struct Rep Online (2009) 1.06

In vitro anti-influenza virus activities of sulfated polysaccharide fractions from Gracilaria lemaneiformis. Virol Sin (2010) 1.06

OsREC8 is essential for chromatid cohesion and metaphase I monopolar orientation in rice meiosis. Plant Physiol (2011) 1.05

Epidemiology of human adenovirus and molecular characterization of human adenovirus 55 in China, 2009-2012. Influenza Other Respir Viruses (2014) 1.04

Serum selenium and single-nucleotide polymorphisms in genes for selenoproteins: relationship to markers of oxidative stress in men from Auckland, New Zealand. Genes Nutr (2011) 1.03

Liver tumor model with implanted rhabdomyosarcoma in rats: MR imaging, microangiography, and histopathologic analysis. Radiology (2006) 1.03

Metabolomics study on Fuzi and its processed products using ultra-performance liquid-chromatography/electrospray-ionization synapt high-definition mass spectrometry coupled with pattern recognition analysis. Analyst (2011) 1.01

Picomolar dichotomous activity of gnidimacrin against HIV-1. PLoS One (2011) 1.01

Genetic relationships among twelve Chinese indigenous goat populations based on microsatellite analysis. Genet Sel Evol (2002) 1.01

Detection of nanobacteria in serum, bile and gallbladder mucosa of patients with cholecystolithiasis. Chin Med J (Engl) (2005) 1.01

Biodistribution of encapsulated indocyanine green in healthy mice. Mol Pharm (2009) 1.01

Short fetal leukocyte telomere length and preterm prelabor rupture of the membranes. PLoS One (2012) 1.01

Clinical characteristics and genotype-phenotype correlation in 62 patients with X-linked agammaglobulinemia. J Clin Immunol (2009) 1.00

Clinical and genetic characteristics of XIAP deficiency in Japan. J Clin Immunol (2012) 1.00

Structure and molecular mechanism of an anion-selective mechanosensitive channel of small conductance. Proc Natl Acad Sci U S A (2012) 0.98

Percutaneous cooled-tip microwave ablation under ultrasound guidance for primary liver cancer: a multicentre analysis of 1363 treatment-naive lesions in 1007 patients in China. Gut (2011) 0.98

Preclinical evaluation of the antitumor activity of bortezomib in combination with vitamin C or with epigallocatechin gallate, a component of green tea. Cancer Chemother Pharmacol (2011) 0.97

PAIR3, an axis-associated protein, is essential for the recruitment of recombination elements onto meiotic chromosomes in rice. Mol Biol Cell (2010) 0.97

Inflammatory effects of ex vivo human Th17 cells are suppressed by regulatory T cells. J Immunol (2010) 0.97

STAT3 silencing with lentivirus inhibits growth and induces apoptosis and differentiation of U251 cells. J Neurooncol (2008) 0.97

Overexpression of a NAC-domain protein promotes shoot branching in rice. New Phytol (2007) 0.97

Retinoic acid is a cofactor for translational regulation of vascular endothelial growth factor in human endometrial stromal cells. Mol Endocrinol (2009) 0.97

Ethanol and methanol can improve huperzine A production from endophytic Colletotrichum gloeosporioides ES026. PLoS One (2013) 0.97

Quantitative photoelectrochemical detection of biological affinity reaction: biotin-avidin interaction. Anal Chem (2004) 0.96

Knockdown of STAT3 expression by RNAi suppresses growth and induces apoptosis and differentiation in glioblastoma stem cells. Int J Oncol (2010) 0.96

Statistical determination of threshold for cellular division in the CFSE-labeling assay. J Immunol Methods (2006) 0.96

Ingenuity pathways analysis of urine metabolomics phenotypes toxicity of Chuanwu in Wistar rats by UPLC-Q-TOF-HDMS coupled with pattern recognition methods. Mol Biosyst (2012) 0.95

Exploring theranostic potentials of radioiodinated hypericin in rodent necrosis models. Theranostics (2012) 0.95

Differential effects of left/right neuropathy on rats' anxiety and cognitive behavior. Pain (2012) 0.95

Elevated β-arrestin1 expression correlated with risk stratification in acute lymphoblastic leukemia. Int J Hematol (2011) 0.95

The prevalence of Th17 cells and FOXP3 regulate T cells (Treg) in children with primary nephrotic syndrome. Pediatr Nephrol (2009) 0.95

Analysis of fecal Lactobacillus community structure in patients with early rheumatoid arthritis. Curr Microbiol (2013) 0.95

Comparison of histological structure and biocompatibility between human acellular dermal matrix (ADM) and porcine ADM. Burns (2009) 0.95

Diffusion-weighted MRI of hepatic tumor in rats: comparison between in vivo and postmortem imaging acquisitions. J Magn Reson Imaging (2009) 0.94

Preliminary experience on treatment of infantile hemangioma with low-dose propranolol in China. Eur J Pediatr (2013) 0.94

Molecular and cellular effects of NEDD8-activating enzyme inhibition in myeloma. Mol Cancer Ther (2012) 0.94

In-vivo xenograft murine human uveal melanoma model develops hepatic micrometastases. Melanoma Res (2008) 0.94

Intrinsic current-voltage characteristics of graphene nanoribbon transistors and effect of edge doping. Nano Lett (2007) 0.93

Bridge employment and retirees' health: a longitudinal investigation. J Occup Health Psychol (2009) 0.93

Lipopolysaccharide induces IL-6 production in respiratory syncytial virus-infected airway epithelial cells through the toll-like receptor 4 signaling pathway. Pediatr Res (2009) 0.93

Morphological, functional and metabolic imaging biomarkers: assessment of vascular-disrupting effect on rodent liver tumours. Eur Radiol (2010) 0.93

Free-radical scavenger edaravone inhibits both formation and development of abdominal aortic aneurysm in rats. J Vasc Surg (2012) 0.93

Dietary fibre affects intestinal mucosal barrier function and regulates intestinal bacteria in weaning piglets. Br J Nutr (2013) 0.93

ZIP4 in homologous chromosome synapsis and crossover formation in rice meiosis. J Cell Sci (2012) 0.92

Central region component1, a novel synaptonemal complex component, is essential for meiotic recombination initiation in rice. Plant Cell (2013) 0.92

Isolation and identification of lactic acid bacteria from Tarag in Eastern Inner Mongolia of China by 16S rRNA sequences and DGGE analysis. Microbiol Res (2012) 0.92

Identification of a surface protein from Lactobacillus reuteri JCM1081 that adheres to porcine gastric mucin and human enterocyte-like HT-29 cells. Curr Microbiol (2008) 0.92

Analysis of two pharmacodynamic biomarkers using acoustic micro magnetic particles on the ViBE bioanalyzer. Anal Biochem (2010) 0.92

Simultaneous determination of five aristolochic acids and two aristololactams in Aristolochia plants by high-performance liquid chromatography. Biomed Chromatogr (2006) 0.92

Internet use frequency and patient-centered care: measuring patient preferences for participation using the health information wants questionnaire. J Med Internet Res (2013) 0.91

Anxiety correlates with somatic symptoms and sleep status at high altitudes. Physiol Behav (2013) 0.91

Ultrasound-guided percutaneous microwave ablation of adrenal metastasis: preliminary results. Int J Hyperthermia (2009) 0.91

Effects of lipid regulation using raw and processed radix polygoni multiflori in rats fed a high-fat diet. Evid Based Complement Alternat Med (2012) 0.91