Výsledky vyhledávání - "Ahmad Hag-Dahood Mahameed"

Long-Term Outcome of Loss-of-Function Mutations in Thyrotropin Receptor Gene

Autor: Osnat Admoni, Naama Schwartz, Samuell Refetoff, Dani Bercovich, Ahmad Hag-Dahood Mahameed, Shlomo Almashanu, Stavit Allon-Shalev, Yardena Tenenbaum-Rakover, Ora Hess

Background: Loss-of-function mutations in the thyrotropin receptor (TSHR) gene lead to resistance to TSH (RTSH) presenting with either congenital hypothyroidism (CH) or subclinical hypothyroidism (SCH). Despite several reports of patients with TSHR m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::303b4d2363aef46b127fc5d8b4eae2f4
https://europepmc.org/articles/PMC4361004/

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A familial thyrotropin (TSH) receptor mutation provides in vivo evidence that the inositol phosphates/Ca2+ cascade mediates TSH action on thyroid hormone synthesis

Autor: Ahmad Hag-Dahood Mahameed, Helmut Grasberger, Yardena Tenenbaum-Rakover, Jacqueline Van Sande, Samuel Refetoff

Publikováno v: The Journal of clinical endocrinology and metabolism. 92(7)

Context: In the human thyroid gland, TSH activates both the cAMP and inositol phosphates (IP) signaling cascades via binding to the TSH receptor (TSHR). Biallelic TSHR loss-of-function mutations cause resistance to TSH, clinically characterized by hy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05c8b5bc18d6aea31073b11ca45839a2
https://pubmed.ncbi.nlm.nih.gov/17456567

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