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PMID:21565790
| Citation |
De Marco, G, Agretti, P, Montanelli, L, Di Cosmo, C, Bagattini, B, De Servi, M, Ferrarini, E, Dimida, A, Freitas Ferreira, AC, Molinaro, A, Ceccarelli, C, Brozzi, F, Pinchera, A, Vitti, P and Tonacchera, M (2011) Identification and functional analysis of novel dual oxidase 2 (DUOX2) mutations in children with congenital or subclinical hypothyroidism. J. Clin. Endocrinol. Metab. 96:E1335-9 |
|---|---|
| Abstract |
Congenital hypothyroidism (CH) associated with goiter or a gland of normal size has been linked to dual oxidase 2 (DUOX2) mutations in the presence of iodide organification defect. |
| Links |
PubMed Online version:10.1210/jc.2010-2467 |
| Keywords |
Adult; Aged; Child; Child, Preschool; Congenital Hypothyroidism/genetics; Congenital Hypothyroidism/physiopathology; Female; Gene Deletion; HeLa Cells; Humans; Male; Middle Aged; NADPH Oxidase/genetics; Oligonucleotide Array Sequence Analysis; Point Mutation; Severity of Illness Index; Thyroid Gland/physiology |
| edit table |
Significance
Annotations
| Gene product | Qualifier | GO Term | Evidence Code | with/from | Aspect | Extension | Notes | Status |
|---|---|---|---|---|---|---|---|---|
| GO:0016174: NAD(P)H oxidase activity |
ECO:0000315: |
F |
Figure 1 shows that HeLa cells transfected with different expression vectors have different amounts of hydrogen peroxide generation based on. The mutant proteins produced significantly less hydrogen peroxide compared to wildtype protein. |
complete | ||||
|
enables |
GO:0016174: NAD(P)H oxidase activity |
ECO:0000315: mutant phenotype evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
Notes
See also
References
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