Published in Birth Defects Res A Clin Mol Teratol on January 01, 2007
Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice. J Clin Invest (2009) 1.40
Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome. Clin Exp Immunol (2008) 1.02
Mutations in the CHD7 gene: the experience of a commercial laboratory. Genet Test Mol Biomarkers (2010) 0.93
Role of Chd7 in zebrafish: a model for CHARGE syndrome. PLoS One (2012) 0.92
Immunodeficiency in DiGeorge Syndrome and Options for Treating Cases with Complete Athymia. Front Immunol (2013) 0.89
Xenopus: An emerging model for studying congenital heart disease. Birth Defects Res A Clin Mol Teratol (2011) 0.89
Otitis media in a new mouse model for CHARGE syndrome with a deletion in the Chd7 gene. PLoS One (2012) 0.83
Sox2 acts as a rheostat of epithelial to mesenchymal transition during neural crest development. Front Physiol (2014) 0.82
Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome. Am J Med Genet A (2013) 0.82
Using whole mount in situ hybridization to link molecular and organismal biology. J Vis Exp (2011) 0.81
CHARGE syndrome: a review of the immunological aspects. Eur J Hum Genet (2015) 0.78
Clinical and biological features associated with epidermal growth factor receptor gene mutations in lung cancers. J Natl Cancer Inst (2005) 13.00
Thrombopoietin/MPL signaling regulates hematopoietic stem cell quiescence and interaction with the osteoblastic niche. Cell Stem Cell (2007) 4.31
Somatic mutations of the HER2 kinase domain in lung adenocarcinomas. Cancer Res (2005) 4.25
Pivotal role of cerebral interleukin-17-producing gammadeltaT cells in the delayed phase of ischemic brain injury. Nat Med (2009) 3.32
Connective tissue growth factor binds vascular endothelial growth factor (VEGF) and inhibits VEGF-induced angiogenesis. FASEB J (2001) 2.79
ADAMs in cancer cell proliferation and progression. Cancer Sci (2007) 2.69
Prediction of intravenous immunoglobulin unresponsiveness in patients with Kawasaki disease. Circulation (2006) 2.56
Cutting edge: TNF-alpha-converting enzyme (TACE/ADAM17) inactivation in mouse myeloid cells prevents lethality from endotoxin shock. J Immunol (2007) 2.53
Matrix metalloproteinases cleave connective tissue growth factor and reactivate angiogenic activity of vascular endothelial growth factor 165. J Biol Chem (2002) 2.33
A multicenter prospective randomized trial of corticosteroids in primary therapy for Kawasaki disease: clinical course and coronary artery outcome. J Pediatr (2006) 2.13
Chondromodulin-I maintains cardiac valvular function by preventing angiogenesis. Nat Med (2006) 2.03
Targeted deletion or pharmacological inhibition of MMP-2 prevents cardiac rupture after myocardial infarction in mice. J Clin Invest (2005) 1.94
Novel mutation of human DNA polymerase gamma associated with mitochondrial toxicity induced by anti-HIV treatment. J Infect Dis (2007) 1.85
Methylation and gene silencing of the Ras-related GTPase gene in lung and breast cancers. Ann Surg Oncol (2006) 1.79
Osteoclasts are dispensable for hematopoietic stem cell maintenance and mobilization. J Exp Med (2011) 1.79
Effect of ADAM28 on carcinoma cell metastasis by cleavage of von Willebrand factor. J Natl Cancer Inst (2012) 1.76
Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis. Mol Genet Metab (2007) 1.75
PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. J Clin Endocrinol Metab (2002) 1.66
HMGA2 is a driver of tumor metastasis. Cancer Res (2013) 1.66
The RNA-binding protein HuD regulates neuronal cell identity and maturation. Proc Natl Acad Sci U S A (2005) 1.66
Superoxide dismutase expression attenuates cigarette smoke- or elastase-generated emphysema in mice. Am J Respir Crit Care Med (2005) 1.61
Joint diseases and matrix metalloproteinases: a role for MMP-13. Curr Pharm Biotechnol (2008) 1.60
Efficacy of intravenous midazolam for status epilepticus in childhood. Pediatr Neurol (2007) 1.58
Hypoxia disrupts the barrier function of neural blood vessels through changes in the expression of claudin-5 in endothelial cells. Am J Pathol (2007) 1.54
Regulatory role of dendritic cells in postinfarction healing and left ventricular remodeling. Circulation (2012) 1.54
Polymorphisms, mutations, and amplification of the EGFR gene in non-small cell lung cancers. PLoS Med (2007) 1.52
Hypoxic regulation of the cerebral microcirculation is mediated by a carbon monoxide-sensitive hydrogen sulfide pathway. Proc Natl Acad Sci U S A (2012) 1.50
Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies. J Hum Genet (2010) 1.49
MT1-MMP and MMP-7 in invasion and metastasis of human cancers. Cancer Metastasis Rev (2003) 1.48
Structural emphysema does not correlate with lung compliance: lessons from the mouse smoking model. Exp Lung Res (2005) 1.48
GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling. Proc Natl Acad Sci U S A (2009) 1.47
Prognostic role of KiSS-1 and possibility of therapeutic modality of metastin, the final peptide of the KiSS-1 gene, in urothelial carcinoma. Mol Cancer Ther (2012) 1.47
Complete mutation analysis panel of the 39 human HOX genes. Teratology (2002) 1.47
Phenotypic spectrum of CHARGE syndrome with CHD7 mutations. J Pediatr (2006) 1.45
Transgenic expression of matrix metalloproteinase-9 causes adult-onset emphysema in mice associated with the loss of alveolar elastin. Am J Physiol Lung Cell Mol Physiol (2008) 1.43
Progressive adult-onset emphysema in transgenic mice expressing human MMP-1 in the lung. Am J Physiol Lung Cell Mol Physiol (2003) 1.42
Periostin advances atherosclerotic and rheumatic cardiac valve degeneration by inducing angiogenesis and MMP production in humans and rodents. J Clin Invest (2010) 1.42
Vascular endothelial growth factor isoforms and their receptors are expressed in human osteoarthritic cartilage. Am J Pathol (2003) 1.42
Retracted Methylation of apoptosis related genes in the pathogenesis and prognosis of prostate cancer. Cancer Lett (2006) 1.40
MMP-13 plays a role in keratinocyte migration, angiogenesis, and contraction in mouse skin wound healing. Am J Pathol (2009) 1.40
Prevalence of Patent Foramen Ovale in the Japanese Population- Autopsy Study. Circ J (2015) 1.39
Genitourinary anomaly in congenital varicella syndrome: case report and review. Pediatr Nephrol (2004) 1.38
Misexpression of full-length HMGA2 induces benign mesenchymal tumors in mice. Cancer Res (2006) 1.35
Heart failure causes cholinergic transdifferentiation of cardiac sympathetic nerves via gp130-signaling cytokines in rodents. J Clin Invest (2010) 1.33
The role of matrix metalloproteinases in glioma invasion. Front Biosci (2003) 1.33
Aberrant methylation of trail decoy receptor genes is frequent in multiple tumor types. Int J Cancer (2004) 1.32
Hypoxia-inducible factor regulates survival of antigen receptor-driven T cells. J Immunol (2003) 1.31
Detection of von Willebrand factor-cleaving protease (ADAMTS-13) in human platelets. Biochem Biophys Res Commun (2004) 1.29
Matrix metalloproteinases, a disintegrin and metalloproteinases, and a disintegrin and metalloproteinases with thrombospondin motifs in non-neoplastic diseases. Pathol Int (2010) 1.29
Cell-autonomous roles of ARX in cell proliferation and neuronal migration during corticogenesis. J Neurosci (2008) 1.28
Retracted Aberrant methylation profile of human malignant mesotheliomas and its relationship to SV40 infection. Oncogene (2005) 1.25
Expression of ADAMTS4 (aggrecanase-1) in human osteoarthritic cartilage. Pathol Int (2007) 1.23
KIAA1199, a deafness gene of unknown function, is a new hyaluronan binding protein involved in hyaluronan depolymerization. Proc Natl Acad Sci U S A (2013) 1.23
Efficacy and immunologic responses to influenza vaccine in HIV-1-infected patients. J Acquir Immune Defic Syndr (2005) 1.22
Expression profiles and clinical correlations of degradome components in the tumor microenvironment of head and neck squamous cell carcinoma. Clin Cancer Res (2010) 1.22
Aberrant methylation of HIN-1 (high in normal-1) is a frequent event in many human malignancies. Int J Cancer (2005) 1.21
ADAM12 is selectively overexpressed in human glioblastomas and is associated with glioblastoma cell proliferation and shedding of heparin-binding epidermal growth factor. Am J Pathol (2004) 1.21
Stroma-derived matrix metalloproteinase (MMP)-2 promotes membrane type 1-MMP-dependent tumor growth in mice. Cancer Res (2007) 1.21
Increased RANKL expression is related to tumour migration and metastasis of renal cell carcinomas. J Pathol (2009) 1.20
A SiPM-based isotropic-3D PET detector X'tal cube with a three-dimensional array of 1 mm(3) crystals. Phys Med Biol (2011) 1.20
Neutrophil-derived matrix metalloproteinase 9 triggers acute aortic dissection. Circulation (2012) 1.18
Impaired bone fracture healing in matrix metalloproteinase-13 deficient mice. Biochem Biophys Res Commun (2007) 1.18
Retracted Aberrant methylation of heparan sulfate glucosamine 3-O-sulfotransferase 2 genes as a biomarker in colorectal cancer. Anticancer Res (2010) 1.18
Constitutive and induced CD44 shedding by ADAM-like proteases and membrane-type 1 matrix metalloproteinase. Cancer Res (2004) 1.17
Human glioblastomas overexpress ADAMTS-5 that degrades brevican. Acta Neuropathol (2005) 1.17
Very low pandemic influenza A (H1N1) 2009 mortality associated with early neuraminidase inhibitor treatment in Japan: analysis of 1000 hospitalized children. J Infect (2011) 1.17
Cleavage of metastasis suppressor gene product KiSS-1 protein/metastin by matrix metalloproteinases. Oncogene (2003) 1.17
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. Eur J Hum Genet (2009) 1.15
Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study. Orphanet J Rare Dis (2013) 1.12
Expression of Snail and Slug in renal cell carcinoma: E-cadherin repressor Snail is associated with cancer invasion and prognosis. Lab Invest (2011) 1.12
Large fontanelles are a shared feature of haploinsufficiency of RUNX2 and its co-activator CBFB. Congenit Anom (Kyoto) (2004) 1.12
Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders. Am J Hum Genet (2013) 1.11
ADAM-12 (meltrin alpha) is involved in chondrocyte proliferation via cleavage of insulin-like growth factor binding protein 5 in osteoarthritic cartilage. Arthritis Rheum (2008) 1.10
Production and activation of matrix metalloproteinase-2 in proliferative diabetic retinopathy. Invest Ophthalmol Vis Sci (2003) 1.09
Mechanisms of heat-induced antigen retrieval: analyses in vitro employing SDS-PAGE and immunohistochemistry. J Histochem Cytochem (2005) 1.09
Kallmann syndrome phenotype in a female patient with CHARGE syndrome and CHD7 mutation. Endocr J (2006) 1.09
Expression of snail in upper urinary tract urothelial carcinoma: prognostic significance and implications for tumor invasion. Clin Cancer Res (2010) 1.09
Size distribution of retrovirally marked lineages matches prediction from population measurements of cell cycle behavior. J Neurosci Res (2002) 1.08
Absent inner dynein arms in a fetus with familial hydrocephalus-situs abnormality. Am J Med Genet A (2004) 1.08
ADAM28 is overexpressed in human breast carcinomas: implications for carcinoma cell proliferation through cleavage of insulin-like growth factor binding protein-3. Cancer Res (2006) 1.07
Establishment of a real-time, quantitative, and reproducible mouse model of Staphylococcus osteomyelitis using bioluminescence imaging. Infect Immun (2011) 1.06
Membrane-type 1 matrix metalloproteinase cytoplasmic tail-binding protein-1 is a new member of the Cupin superfamily. A possible multifunctional protein acting as an invasion suppressor down-regulated in tumors. J Biol Chem (2004) 1.06
Small heat shock protein 27 mutation in a Japanese patient with distal hereditary motor neuropathy. J Hum Genet (2005) 1.05