-
This study reports the pedigree with goitrous congenital hypothyroidism (GCH) due to the coexistence of heterozygous mutations in the DUOX2 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 (p.R885Q) genes were identified in a set of dizygotic twins with congenital hypothyroidism
-
The folding of DUOX2 appears to be a key event in the trafficking of the DUOX2/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 synthesis.
-
The DUOX-expressing model, the human intestinal Caco-2 cell line, expression of DUOXA2 mRNA was also positively modulated by IL-4 and IL-13.
-
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/DUOXA2 transcription in response to exogenous double-stranded DNA.
-
Native DUOXA2 would constrain DUOX2 to produce H(2)O(2).
-
Up-regulation and sustained activation of Stat1 are essential for interferon-gamma (IFN-gamma)-induced dual oxidase 2 (Duox2) and dual oxidase A2 (DuoxA2) expression in human pancreatic cancer cell lines.
-
co-expression of DUOXA2, an ER-resident transmembrane protein, allows ER-to-Golgi transition, maturation, and translocation to the plasma membrane of functional DUOX2 in a heterologous system
-
DUOXA2 allows rapid ER exit of folded DUOX2 or enhanced degradation of mutant DUOX2 proteins not competent for ER exit.
-
Results provide evidence for the critical role of DUOXA2 in thyroid hormonogenesis. Biallelic DUOXA2 mutations are a novel genetic event in permanent congenital hypothroidism.
-
The five gene transcripts (aldolase B, elafin, MST-1, simNIPhom and SLC6A14) were changed in patients with ulcerative colitis, and were related to the disease activity.
-
Heterodimerization controls localization of Duox-DuoxA NADPH oxidases in airway cells.
