Genetic disorders of thyroid development, hormone biosynthesis and signalling
Sign Up to like & getrecommendations! Published in 2022 at "Clinical Endocrinology"
DOI: 10.1111/cen.14817
Abstract: Development and differentiation of the thyroid gland is directed by expression of specific transcription factors in the thyroid follicular cell which mediates hormone biosynthesis. Membrane transporters are rate‐limiting for cellular entry of thyroid hormones (TH)… read more here.
Keywords: hormone; genetic disorders; hormone biosynthesis; disorders thyroid ... See more keywords
Pathogenic variations in MAML2 and MAMLD1 contribute to congenital hypothyroidism due to dyshormonogenesis by regulating the Notch signalling pathway
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Medical Genetics"
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
1α,25-Dihydroxyvitamin D3 Improves Follicular Development and Steroid Hormone Biosynthesis by Regulating Vitamin D Receptor in the Layers Model
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DOI: 10.3390/cimb45050256
Abstract: 1α,25-Dihydroxyvitamin D3 (VitD3) is the active form of vitamin D, and it regulates gene expression and protein synthesis in mammalian follicle development. However, the function of VitD3 in the follicular development of layers remains unclear.… read more here.
Keywords: hormone biosynthesis; development; expression; steroid hormone ... See more keywords