Transient congenital hypothyroidism caused by biallelic mutations of the dual oxidase 2 gene in Japanese patients detected by a neonatal screening program.

PubWeight™: 1.26‹?› | Rank: Top 10%

🔗 View Article (PMID 18765513)

Published in J Clin Endocrinol Metab on September 02, 2008

Authors

Yoshihiro Maruo1, Hiroko Takahashi, Ikumi Soeda, Noriko Nishikura, Katsuyuki Matsui, Yoriko Ota, Yu Mimura, Asami Mori, Hiroshi Sato, Yoshihiro Takeuchi

Author Affiliations

1: Department of Pediatrics, Shiga University of Medical Science, Tsukinowa, Seta, Otsu, Shiga 520-2192, Japan. maruo@belle.shiga-med.ac.jp

Articles citing this

Activation of dual oxidases Duox1 and Duox2: differential regulation mediated by camp-dependent protein kinase and protein kinase C-dependent phosphorylation. J Biol Chem (2009) 1.29

Genetic causes of congenital hypothyroidism due to dyshormonogenesis. Curr Opin Pediatr (2011) 1.14

Selenium, selenoproteins and the thyroid gland: interactions in health and disease. Nat Rev Endocrinol (2011) 1.01

A single copy of the recently identified dual oxidase maturation factor (DUOXA) 1 gene produces only mild transient hypothyroidism in a patient with a novel biallelic DUOXA2 mutation and monoallelic DUOXA1 deletion. J Clin Endocrinol Metab (2011) 0.99

Genetic disorders coupled to ROS deficiency. Redox Biol (2015) 0.94

Recent insights into the cell biology of thyroid angiofollicular units. Endocr Rev (2013) 0.93

Transient congenital hypothyroidism. Indian J Endocrinol Metab (2011) 0.92

Update on some aspects of neonatal thyroid disease. J Clin Res Pediatr Endocrinol (2010) 0.87

Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ. J Clin Endocrinol Metab (2016) 0.85

Structural stability and heme binding potential of the truncated human dual oxidase 2 (DUOX2) peroxidase domain. Arch Biochem Biophys (2011) 0.84

Regulation of dual oxidase expression and H2O2 production by thyroglobulin. Thyroid (2012) 0.82

TRANSCRIPTION FACTOR GLI-SIMILAR 3 (GLIS3): IMPLICATIONS FOR THE DEVELOPMENT OF CONGENITAL HYPOTHYROIDISM. J Endocrinol Diabetes Obes (2014) 0.81

Genetic analysis in children with transient thyroid dysfunction or subclinical hypothyroidism detected on neonatal screening. Clin Pediatr Endocrinol (2009) 0.81

The extracellular A-loop of dual oxidases affects the specificity of reactive oxygen species release. J Biol Chem (2015) 0.79

Permanent and Transient Congenital Hypothyroidism in Hamadan West Province of Iran. Int J Endocrinol Metab (2016) 0.78

A Novel c.554+5C>T Mutation in the DUOXA2 Gene Combined with p.R885Q Mutation in the DUOX2 Gene Causing Congenital Hypothyroidism. J Clin Res Pediatr Endocrinol (2015) 0.77

Hypothyroidism-associated missense mutation impairs NADPH oxidase activity and intracellular trafficking of Duox2. Free Radic Biol Med (2014) 0.77

Digenic DUOX1 and DUOX2 mutations in cases with congenital hypothyroidism. J Clin Endocrinol Metab (2017) 0.75

Genotype-phenotype correlations of dyshormonogenetic goiter in children and adolescents from South India. Indian J Endocrinol Metab (2016) 0.75

Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family. Orphanet J Rare Dis (2017) 0.75

Defects of Thyroid Hormone Synthesis and Action. Endocrinol Metab Clin North Am (2017) 0.75

Compound Heterozygous Mutations in the DUOX2/DUOXA2 Genes Cause Congenital Hypothyroidism. Yonsei Med J (2017) 0.75

Guidelines for Mass Screening of Congenital Hypothyroidism (2014 revision). Clin Pediatr Endocrinol (2015) 0.75

Articles by these authors

Association of psychosocial risk factors with risk of acute myocardial infarction in 11119 cases and 13648 controls from 52 countries (the INTERHEART study): case-control study. Lancet (2004) 9.01

Functional SNPs in the lymphotoxin-alpha gene that are associated with susceptibility to myocardial infarction. Nat Genet (2002) 6.46

Intracoronary administration of cardiac progenitor cells alleviates left ventricular dysfunction in rats with a 30-day-old infarction. Circulation (2010) 3.42

Identification of a novel non-coding RNA, MIAT, that confers risk of myocardial infarction. J Hum Genet (2006) 2.41

RNA export factor RAE1 contributes to NUP98-HOXA9-mediated leukemogenesis. Cell Cycle (2011) 2.18

Low levels of serum n-3 polyunsaturated fatty acids are associated with worse heart failure-free survival in patients after acute myocardial infarction. Circ J (2012) 2.15

Cleavage of syndecan-1 by membrane type matrix metalloproteinase-1 stimulates cell migration. J Biol Chem (2003) 2.08

A comparison of urinary albumin-total protein ratio to phase-contrast microscopic examination of urine sediment for differentiating glomerular and nonglomerular bleeding. Am J Kidney Dis (2008) 2.07

CD44 directs membrane-type 1 matrix metalloproteinase to lamellipodia by associating with its hemopexin-like domain. EMBO J (2002) 2.05

Renal disease in the elderly and the very elderly Japanese: analysis of the Japan Renal Biopsy Registry (J-RBR). Clin Exp Nephrol (2012) 1.95

Influence of serotonin transporter gene polymorphism on depressive symptoms and new cardiac events after acute myocardial infarction. Am Heart J (2005) 1.86

Genetic polymorphisms of bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese patients with Crigler-Najjar syndrome or Gilbert's syndrome as well as in healthy Japanese subjects. J Gastroenterol Hepatol (2004) 1.77

A functional SNP in PSMA6 confers risk of myocardial infarction in the Japanese population. Nat Genet (2006) 1.73

SLCO4C1 transporter eliminates uremic toxins and attenuates hypertension and renal inflammation. J Am Soc Nephrol (2009) 1.70

Functional variation in LGALS2 confers risk of myocardial infarction and regulates lymphotoxin-alpha secretion in vitro. Nature (2004) 1.68

Day-to-day variability in home blood pressure is associated with cognitive decline: the Ohasama study. Hypertension (2014) 1.67

Inhibition of Th2 differentiation and GATA-3 expression by BCL-6. J Immunol (2003) 1.63

Reduced collateral circulation to the infarct-related artery in elderly patients with acute myocardial infarction. J Am Coll Cardiol (2004) 1.61

Impaired T cell function in RANTES-deficient mice. Clin Immunol (2002) 1.60

Kudoa septempunctata n. sp. (Myxosporea: Multivalvulida) from an aquacultured olive flounder (Paralichthys olivaceus) imported from Korea. Parasitol Res (2010) 1.60

A novel mechanism for the inhibition of hyaluronan biosynthesis by 4-methylumbelliferone. J Biol Chem (2004) 1.60

Crosstalk between neovessels and mural cells directs the site-specific expression of MT1-MMP to endothelial tip cells. J Cell Sci (2007) 1.57

Regulation of IL-10 gene expression in Th2 cells by Jun proteins. J Immunol (2005) 1.57

Reg protein is overexpressed in gastric cancer cells, where it activates a signal transduction pathway that converges on ERK1/2 to stimulate growth. FEBS Lett (2002) 1.56

Seizure susceptibility due to antihistamines in febrile seizures. Pediatr Neurol (2010) 1.52

Lipid profile, plasma apolipoproteins, and risk of a first myocardial infarction among Asians: an analysis from the INTERHEART Study. J Am Coll Cardiol (2009) 1.50

Ovarian endometriosis showing decidual change and Arias-Stella reaction with biotin-containing intranuclear inclusions. Acta Cytol (2003) 1.49

Elevated serum heart-type fatty acid-binding protein in the convalescent stage predicts long-term outcome in patients surviving acute myocardial infarction. Circ J (2012) 1.48

Growth inhibition of esophageal squamous carcinoma cells by peroxisome proliferator-activated receptor-gamma ligands. J Lab Clin Med (2002) 1.46

Longitudinal risk of cardiovascular events in relation to depression symptoms after discharge among survivors of myocardial infarction. Osaka Acute Coronary Insufficiency Study. Circ J (2011) 1.45

Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis. J Allergy Clin Immunol (2007) 1.45

Crucial roles of Brn1 in distal tubule formation and function in mouse kidney. Development (2003) 1.44

[A preliminary report of national research on podocytic infolding glomerulopathy]. Nihon Jinzo Gakkai Shi (2007) 1.44

The phosphorylation of EphB2 receptor regulates migration and invasion of human glioma cells. Cancer Res (2004) 1.42

Role of vascular endothelial growth factor in maintenance of pregnancy in mice. Endocrinology (2013) 1.42

Engineered interface of magnetic oxides. Science (2004) 1.42

Night-time blood pressure is associated with the development of chronic kidney disease in a general population: the Ohasama Study. J Hypertens (2013) 1.39

Comparison of MMP-3 levels in rheumatoid arthritis after treatment with tocilizumab or infliximab for 12 weeks. Mod Rheumatol (2011) 1.38

Biphasic incorporation of centromeric histone CENP-A in fission yeast. Mol Biol Cell (2007) 1.36

Genetic analysis of a Theiler-like virus isolated from rats. Comp Med (2003) 1.34

SNPs in BRAP associated with risk of myocardial infarction in Asian populations. Nat Genet (2009) 1.29

Membrane type 1 matrix metalloproteinase regulates collagen-dependent mitogen-activated protein/extracellular signal-related kinase activation and cell migration. Cancer Res (2004) 1.27

Metabolomic profiling of uremic solutes in CKD patients. Hypertens Res (2010) 1.26

An integrated microfluidic culture device for quantitative analysis of human embryonic stem cells. Lab Chip (2008) 1.21

Genes for the peptidoglycan synthesis pathway are essential for chloroplast division in moss. Proc Natl Acad Sci U S A (2006) 1.18

Japan Renal Biopsy Registry and Japan Kidney Disease Registry: Committee Report for 2009 and 2010. Clin Exp Nephrol (2013) 1.17

Reduced life expectancy due to smoking in large-scale cohort studies in Japan. J Epidemiol (2008) 1.17

Human glioblastomas overexpress ADAMTS-5 that degrades brevican. Acta Neuropathol (2005) 1.17

Cleavage of metastasis suppressor gene product KiSS-1 protein/metastin by matrix metalloproteinases. Oncogene (2003) 1.17

Microchip-based immunoassay system with branching multichannels for simultaneous determination of interferon-gamma. Electrophoresis (2002) 1.15

Proposal of podocytic infolding glomerulopathy as a new disease entity: a review of 25 cases from nationwide research in Japan. Clin Exp Nephrol (2008) 1.14

Two linked polymorphic mutations (A(TA)7TAA and T-3279G) of UGT1A1 as the principal cause of Gilbert syndrome. Hum Genet (2004) 1.14

Cardioprotection by postconditioning in conscious rats is limited to coronary occlusions <45 min. Am J Physiol Heart Circ Physiol (2006) 1.13

Nosocomial outbreak of genetically related IMP-1 beta-lactamase-producing Klebsiella pneumoniae in a general hospital in Japan. Int J Antimicrob Agents (2007) 1.12

Membrane-type 1 matrix metalloproteinase modulates focal adhesion stability and cell migration. Exp Cell Res (2006) 1.11

Increased risk of cardiovascular events and mortality among non-diabetic chronic kidney disease patients with hypertensive nephropathy: the Gonryo study. Hypertens Res (2011) 1.11

JSAP1/JIP3 cooperates with focal adhesion kinase to regulate c-Jun N-terminal kinase and cell migration. J Biol Chem (2005) 1.10

Cleavage of lumican by membrane-type matrix metalloproteinase-1 abrogates this proteoglycan-mediated suppression of tumor cell colony formation in soft agar. Cancer Res (2004) 1.10

Japan Renal Biopsy Registry: the first nationwide, web-based, and prospective registry system of renal biopsies in Japan. Clin Exp Nephrol (2011) 1.08

Kudoa iwatai and two novel Kudoa spp., K. trachuri n. sp. and K. thunni n. sp. (Myxosporea: Multivalvulida), from daily consumed marine fish in western Japan. Parasitol Res (2010) 1.08

Different clinical outcomes for cardiovascular events and mortality in chronic kidney disease according to underlying renal disease: the Gonryo study. Clin Exp Nephrol (2010) 1.07

Inhibition of DNA-double strand break repair by antimony compounds. Toxicology (2002) 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

Hypercholesterolemia abrogates late preconditioning via a tetrahydrobiopterin-dependent mechanism in conscious rabbits. Circulation (2005) 1.06

Depressive symptoms predict 12-month prognosis in elderly patients with acute myocardial infarction. J Cardiovasc Risk (2002) 1.05

Transforming growth factor-β induces vascular endothelial growth factor-C expression leading to lymphangiogenesis in rat unilateral ureteral obstruction. Kidney Int (2012) 1.04

CrkI adapter protein modulates cell migration and invasion in glioblastoma. Cancer Res (2003) 1.04

Activation of matrix metalloproteinase-2 (MMP-2) by membrane type 1 matrix metalloproteinase through an artificial receptor for proMMP-2 generates active MMP-2. Cancer Res (2008) 1.04

Prognostic significance of atrial fibrillation/atrial flutter in patients with acute myocardial infarction treated with percutaneous coronary intervention. Am J Cardiol (2003) 1.02

An Arabidopsis homolog of the bacterial peptidoglycan synthesis enzyme MurE has an essential role in chloroplast development. Plant J (2007) 1.02

Tetraspanin CD63 promotes targeting and lysosomal proteolysis of membrane-type 1 matrix metalloproteinase. Biochem Biophys Res Commun (2003) 1.01

Type I collagen abrogates the clathrin-mediated internalization of membrane type 1 matrix metalloproteinase (MT1-MMP) via the MT1-MMP hemopexin domain. J Biol Chem (2005) 1.01

Inhibition of membrane-type 1 matrix metalloproteinase at cell-matrix adhesions. Cancer Res (2007) 1.01

Substrate choice of membrane-type 1 matrix metalloproteinase is dictated by tissue inhibitor of metalloproteinase-2 levels. Cancer Sci (2007) 1.01

Cyclooxygenase-2 is involved in the up-regulation of matrix metalloproteinase-9 in cholangiocarcinoma induced by tumor necrosis factor-alpha. Am J Pathol (2009) 1.00

Epstein-Barr virus latent membrane protein 1 induces the matrix metalloproteinase-1 promoter via an Ets binding site formed by a single nucleotide polymorphism: enhanced susceptibility to nasopharyngeal carcinoma. Int J Cancer (2005) 1.00

A subset of circulating microRNAs are predictive for cardiac death after discharge for acute myocardial infarction. Biochem Biophys Res Commun (2012) 0.99

Recent advances in the regulation of matrix metalloproteinase 2 activation: from basic research to clinical implication (Review). Oncol Rep (2002) 0.99

Polymorphism of UDP-glucuronosyltransferase and drug metabolism. Curr Drug Metab (2005) 0.98

Unexpected role of nucleoporins in coordination of cell cycle progression. Cell Cycle (2011) 0.98

Strain-mediated phase control and electrolyte-gating of electron-doped manganites. Adv Mater (2011) 0.98

A case of retroperitoneal immature teratoma with nephroblastic components. J Pediatr Hematol Oncol (2012) 0.98

Rescue of hereditary form of dilated cardiomyopathy by rAAV-mediated somatic gene therapy: amelioration of morphological findings, sarcolemmal permeability, cardiac performances, and the prognosis of TO-2 hamsters. Proc Natl Acad Sci U S A (2002) 0.97

Expression and regulation of RB1CC1 in developing murine and human tissues. Int J Mol Med (2004) 0.96

Proton gradient regulation 5-mediated cyclic electron flow under ATP- or redox-limited conditions: a study of ΔATpase pgr5 and ΔrbcL pgr5 mutants in the green alga Chlamydomonas reinhardtii. Plant Physiol (2014) 0.96

Impact of beta blockade therapy on long-term mortality after ST-segment elevation acute myocardial infarction in the percutaneous coronary intervention era. Am J Cardiol (2012) 0.96

Luminal alkalinization attenuates proteinuria-induced oxidative damage in proximal tubular cells. J Am Soc Nephrol (2011) 0.96

Sequence and genetic arrangement of the U(S) region of the monkey B virus (cercopithecine herpesvirus 1) genome and comparison with the U(S) regions of other primate herpesviruses. J Virol (2002) 0.96

Helicobacter pylori induces matrix metalloproteinase-9 through activation of nuclear factor kappaB. Gastroenterology (2003) 0.95

Development of a quantitative polymerase chain reaction assay for detection of Kudoa septempunctata in olive flounder (Paralichthys olivaceus). Int J Food Microbiol (2012) 0.95

Gas detection by structural variations of fluorescent guest molecules in a flexible porous coordination polymer. Nat Mater (2011) 0.95

Phenotypic change of glomerular podocytes in primary focal segmental glomerulosclerosis: developmental paradigm? Nephrol Dial Transplant (2002) 0.95

Analysis of pulmonary complications after three-field lymph node dissection for esophageal cancer. Ann Thorac Surg (2003) 0.95

Tyrosine phosphorylation of the CrkII adaptor protein modulates cell migration. J Cell Sci (2003) 0.94

Expression profiling of esophageal squamous cell carcinoma patients treated with definitive chemoradiotherapy: clinical implications. Int J Oncol (2006) 0.94