Genetic and functional analysis of two missense DUOX2 mutations in congenital hypothyroidism and goiter
نویسندگان
چکیده
منابع مشابه
Genetic and functional analysis of two missense DUOX2 mutations in congenital hypothyroidism and goiter
Mutations in the dual oxidase 2 gene (DUOX2) impair hydrogen peroxide (H2O2) production and cause dyshormonogenesis. In addition, these mutations have been implicated in autosomal recessive congenital hypothyroidism (CH) with goiter. In this study, we identified DUOX2 mutations that were causative for CH and explored the effects of these mutations on DUOX2 function. Blood samples were collected...
متن کاملClinical and molecular characteristics of congenital hypothyroidism with DUOX2 mutations
Methods This study included 62 transient or permanent CH patients with normal-sized or enlarged eutopic thyroid. All coding exons of DUOX2 and their intronic flanking sequences were amplified by PCR, and directly sequenced. As for novel sequence variant of DUOX2, functional studies were performed by measuring H2O2 generation in vitro. Clinical presentation was retrospectively reviewed based on ...
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ژورنال
عنوان ژورنال: Oncotarget
سال: 2016
ISSN: 1949-2553
DOI: 10.18632/oncotarget.10525