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Brief Summary: The article provides a comprehensive overview of current advancements and remaining obstacles in thyroid tissue regeneration.Recent studies have identified potential cellular mechanisms that may contribute to thyroid regeneration following partial tissue damage, including thyroid progenitor cells and microfollicles. Yet, regeneration after damage remains limited as the gland has a slow cell turnover rate. Moreover, in cases of total thyroi...

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ey0021.3-9 | Congenital Hypothyroidism | ESPEYB21

3.9. STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179

Grasberger Helmut , Dumitrescu Alexandra M , Liao Xiao-Hui , Swanson Elliott G , Weiss Roy E , Srichomkwun Panudda , Pappa Theodora , Chen Junfeng , Yoshimura Takashi , Hoffmann Phillip , Franca Monica Malheiros , Tagett Rebecca , Onigata Kazumichi , Costagliola Sabine , Ranchalis Jane , Vollger Mitchell R , Stergachis Andrew B , Chong Jessica X , Bamshad Michael J , Smits Guillaume , Vassart Gilbert , Refetoff Samuel

Brief Summary: This study investigated congenital hypothyroidism (CH) due to dominantly inherited resistance to TSH (RTSH) in 12 unrelated families. It reveals that mutations in a non-coding (TTTG) short tandem repeat (STR) on chromosome 15q cause this condition by activating a thyroid-specific enhancer cluster. Functional studies showed that activation of this enhancer cluster leads to upregulation of the bicistronic MIR7-2/MIR1179 locus, resulting in overexpression of its mi...

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ESPE Yearbook of Paediatric Endocrinology

3.15. Progress toward and challenges remaining for thyroid tissue regeneration

3.9. STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179

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