Yayınlanmış 1 Ocak 2017
| Sürüm v1
Dergi makalesi
Açık
Digenic DUOX1 and DUOX2 Mutations in Cases With Congenital Hypothyroidism
Oluşturanlar
- 1. Dr Sami Ulus Woman Hlth & Children Res Hosp, Div Paediat Endocrinol, TR-06080 Ankara, Turkey
- 2. Istanbul Medipol Univ, Int Sch Med, Dept Med Genet, TR-34810 Istanbul, Turkey
- 3. IRCCS Ca Granda Policlin, Endocrine Unit, Fdn Ist Ricovero & Cura Carattere Sci, I-20122 Milan, Italy
- 4. Univ Cambridge, Addenbrookes Hosp, Metab Res Labs, Wellcome Trust Med Res Council,Inst Metab Sci, Level 4,Box 289,Hills Rd, Cambridge CB2 0QQ, England
Açıklama
Context: The DUOX2 enzyme generates hydrogen peroxide (H2O2), a crucial electron acceptor for the thyroid peroxidase-catalyzed iodination and coupling reactions mediating thyroid hormone biosynthesis. DUOX2 mutations result in dyshormonogenetic congenital hypothyroidism (CH) that may be phenotypically heterogeneous, leading to the hypothesis that CH severity may be influenced by environmental factors (e.g., dietary iodine) and oligogenic modifiers (e.g., variants in the homologous reduced form of NAD phosphate-oxidase DUOX1). However, loss-of-function mutations in DUOX1 have not hitherto been described, and its role in thyroid biology remains undefined.
Dosyalar
bib-ee56f12e-ab3c-4ed6-b83c-1a1c47e86e94.txt
Dosyalar
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