Pathogenic variations in MAML2 and MAMLD1 contribute to congenital hypothyroidism due to dyshormonogenesis by regulating the Notch signalling pathway
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DOI: 10.1136/jmg-2022-108866
Abstract: Background In several countries, thyroid dyshormonogenesis is more common than thyroid dysgenesis in patients with congenital hypothyroidism (CH). However, known pathogenic genes are limited to those directly involved in hormone biosynthesis. The aetiology and pathogenesis… read more here.
Keywords: hypothyroidism; dyshormonogenesis; hormone biosynthesis; notch signalling ... See more keywords
Mutational Spectrum Analysis of Seven Genes Associated with Thyroid Dyshormonogenesis
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DOI: 10.1155/2018/8986475
Abstract: Objective Thyroid dyshormonogenesis (DH) is a genetically heterogeneous inherited disorder caused by thyroid hormone synthesis abnormalities. This study aims at comprehensively characterizing the mutation spectrum in Chinese patients with DH. Subjects and Methods We utilized… read more here.
Keywords: duox2 duoxa2; thyroid dyshormonogenesis; patients carried; mutational spectrum ... See more keywords
Next-Generation Sequencing Analysis Reveals Frequent Familial Origin and Oligogenism in Congenital Hypothyroidism With Dyshormonogenesis
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DOI: 10.3389/fendo.2021.657913
Abstract: Context Congenital hypothyroidism (CH) is related to dyshormonogenesis in 15% to 40% of the world population and associated with homozygous or heterozygous variants in the main genes of the hormone synthesis pathway. Emerging diagnostic tools,… read more here.
Keywords: congenital hypothyroidism; dyshormonogenesis; next generation; generation sequencing ... See more keywords