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This study reports the pedigree with goitrous congenital hypothyroidism (GCH (show GCH1 ELISA Kits)) due to the coexistence of heterozygous mutations in the DUOX2 (show DUOX2 ELISA Kits) and DUOXA2 genes.
DUOXA2 gene mutation is a common molecular pathogenic basis for congenital hypothyroidism children with suspected thyroid dyshormonogenesis in Guangzhou.
inactivating mutations in the DUOXA2 (p.Y246X) and DUOX2 (show DUOX2 ELISA Kits) (p.R885Q) genes were identified in a set of dizygotic twins with congenital hypothyroidism
The folding of DUOX2 (show DUOX2 ELISA Kits) appears to be a key event in the trafficking of the DUOX2 (show DUOX2 ELISA Kits)/DUOXA2 complex as it promotes an appropriate conformation of the N-terminal region, which is propitious to subsequent covalent interactions with the maturation factor, DUOXA2.
a novel DUOXA2 mutation (I26M) causing congenital hypothyroidism with goiter, which affected H2O2 generation but did not alter the protein expression levels, further confirming the essential role of DUOXA2 in thyroid hormone (show PTH ELISA Kits) synthesis.
The DUOX (show DUOX1 ELISA Kits)-expressing model, the human intestinal Caco-2 cell line, expression of DUOXA2 mRNA was also positively modulated by IL-4 (show IL4 ELISA Kits) and IL-13 (show IL13 ELISA Kits).
DUOXA2 is Significantly Upregulated in Active Ulcerative Colitis and during Progression to Dysplasia.
This study is the first to report a novel c.413-414insA (Y138X) mutation for congenital hypothyroidism, thereby expanding the mutational spectrum of the DUOXA2 gene.
Two functionally important single-nucleotide polymorphisms within the promoter differentially regulate DUOX2 (show DUOX2 ELISA Kits)/DUOXA2 transcription in response to exogenous double-stranded DNA.
Native DUOXA2 would constrain DUOX2 (show DUOX2 ELISA Kits) to produce H(2)O(2).
This gene encodes an endoplasmic reticulum protein that is necessary for proper cellular localization and maturation of functional dual oxidase 2. Mutations in this gene have been associated with thyroid dyshormonogenesis 5.
dual oxidase maturation factor 2
, dual oxidase maturation factor 2-like
, Numb-interacting protein 2