Identification of Two Missense Mutations in DUOX1 (p.R1307Q) and DUOXA1 (p.R56W) That Can Cause Congenital Hypothyroidism Through Impairing H(2)O(2) Generation

Context: The DUOX/DUOXA systems play a key role in H(2)O(2) generation in thyroid cells, which is required for iodine organification and thyroid hormone synthesis. DUOX2/DUOXA2 defects can cause congenital hypothyroidism (CH), but it is unknown whether DUOX1/DUOXA1 mutations can also cause CH. Objec...

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Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Front Endocrinol (Lausanne)
Päätekijät: Liu, Shiguo, Han, Wenxiu, Zang, Yucui, Zang, Hongwei, Wang, Fang, Jiang, Pei, Wei, Hongwei, Liu, Xiangju, Wang, Yangang, Ma, Xu, Ge, Yinlin
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Frontiers Media S.A. 2019
Aiheet:
Endocrinology
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC6688124/
https://ncbi.nlm.nih.gov/pubmed/31428054
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fendo.2019.00526
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