Functional Domain Mapping of TPO: Insights From 6 Variants in Sudanese Kindreds With Congenital Hypothyroidism
When multiple TPO variants occur within the same family, a combination of in silico and in vitro analyses can help identify the variant responsible for the phenotype. In silico methods, however, cannot predict the different mechanisms of impairment, such as enzyme activity vs cellular localization, where the protein's topology is essential for normal function.
Authors
- Roy E. Weiss (ORCID: https://orcid.org/0000-0003-3671-0621)
- Ernesto Bernal‐Mizrachi (ORCID: https://orcid.org/0000-0001-9997-3301)
- Samuel Refetoff (ORCID: https://orcid.org/0000-0003-0164-8231)
- Ruy A. N. Louzada (ORCID: https://orcid.org/0000-0003-1789-4234)
- Mohammad Shyful Islam (ORCID: https://orcid.org/0000-0003-2435-8202)
- Jessica Bouvière
- Alexandra M. Dumitrescu (ORCID: https://orcid.org/0000-0002-2743-770X)
- Amna E Ahmed
Institutions
- University of Miami (US)
- University of Khartoum (SD)
- University of Chicago (US)
- Sylvester Comprehensive Cancer Center (US)
Publication Details
- Journal
- The Journal of Clinical Endocrinology & Metabolism
- Published
- 2025-09-25
- DOI
- https://doi.org/10.1210/clinem/dgaf536
- Citations
- 1
- Primary Topic
- Thyroid Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 1.29