Mutations of the Human Thyrotropin Receptor Gene Causing Thyroid Hypoplasia and Persistent Congenital Hypothyroidism
Author:
Publisher
The Endocrine Society
Subject
Biochemistry, medical,Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism
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1. Mechanisms of thyrotropin receptor–mediated phenotype variability deciphered by gene mutations and M453T-knockin model;JCI Insight;2024-01-09
2. Targeting trafficking as a therapeutic avenue for misfolded GPCRs leading to endocrine diseases;Frontiers in Endocrinology;2022-08-25
3. Biased signaling in naturally occurring mutations of G protein-coupled receptors associated with diverse human diseases;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2021-01
4. Congenital Hypothyroidism Patients With Thyroid Hormone Receptor Variants Are Not Rare: A Systematic Review;INQUIRY: The Journal of Health Care Organization, Provision, and Financing;2021-01
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