STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179-Reference-Cited by-同舟云学术

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

Published:2024-05 Issue:5 Volume:56 Page:877-888
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

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

Publisher

Springer Science and Business Media LLC

Link

https://www.nature.com/articles/s41588-024-01717-7.pdf

Reference97 articles.

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2. Boersma, B., Otten, B. J., Stoelinga, G. B. & Wit, J. M. Catch-up growth after prolonged hypothyroidism. Eur. J. Pediatr. 155, 362–367 (1996).

3. Tenenbaum-Rakover, Y. et al. Long-term outcome of loss-of-function mutations in thyrotropin receptor gene. Thyroid 25, 292–299 (2015).

4. Persani, L. et al. Genetics and phenomics of hypothyroidism due to TSH resistance. Mol. Cell. Endocrinol. 322, 72–82 (2010).

5. Stanbury, J. B., Rocmans, P., Buhler, U. K. & Ochi, Y. Congenital hypothyroidism with impaired thyroid response to thyrotropin. N. Engl. J. Med. 279, 1132–1136 (1968).

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