A novel missense mutation (I26M) in DUOXA2 causing congenital goiter hypothyroidism impairs nadph oxidase activity but not protein expression

Journal of Clinical Endocrinology and Metabolism

Volumn 100, Issue 4, 2015, Pages 1225-1229

  Liu, Shiguo ^a   Liu, Lu ^a   Niu, Xiaoyan ^a   Lu, Deguo ^b   Xia, Hongfei ^c,d,e   Yan, Shengli ^a  

^a QINGDAO UNIVERSITY   (China)

^b SHANDONG UNIVERSITY   (China)

^c GRADUATE SCHOOL OF PEKING UNION MEDICAL COLLEGE   (China)

^d WORLD HEALTH ORGANIZATION   (Switzerland)

^e NATIONAL RESEARCH INSTITUTE FOR FAMILY PLANNING   (China)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOSINE; DUAL OXIDASE MATURATION FACTOR 2; GUANINE; HYDROGEN PEROXIDE; MUTANT PROTEIN; PEROXIDASE; PROTEIN DUOX2; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE OXIDASE; UNCLASSIFIED DRUG; DUOXA2 PROTEIN, HUMAN; ISOLEUCINE; MEMBRANE PROTEIN; METHIONINE;

ARTICLE; CHILD; CHINESE; CONGENITAL HYPOTHYROIDISM; CONTROLLED STUDY; DISEASE SEVERITY; DNA FLANKING REGION; DUOXA2 GENE; ENZYME ACTIVITY; ENZYME DEFECT; EXON; FEMALE; GENE AMPLIFICATION; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; GOITER; HELA CELL LINE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN CELL; IN VITRO STUDY; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; AMINO ACID SUBSTITUTION; CASE REPORT; ENZYME ACTIVATION; GENETICS; METABOLISM; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE;

AMINO ACID SUBSTITUTION; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CONGENITAL HYPOTHYROIDISM; ENZYME ACTIVATION; FEMALE; GOITER; HUMANS; HYDROGEN PEROXIDE; ISOLEUCINE; MALE; MEMBRANE PROTEINS; METHIONINE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NADPH OXIDASE;

EID: 84927616761     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2014-3964     Document Type: Article

References (10)

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