The DOI matches its Crossref record; 126 of the 126 references it cites were found in a registry or an index.
Genetics of congenital hypothyroidism
Open accessAbstract
Congenital hypothyroidism is the most common neonatal metabolic disorder and results in severe neurodevelopmental impairment and infertility if untreated. Congenital hypothyroidism is usually sporadic but up to 2% of thyroid dysgenesis is familial, and congenital hypothyroidism caused by organification defects is often recessively inherited. The candidate genes associated with this genetically heterogeneous disorder form two main groups: those causing thyroid gland dysgenesis and those causing dyshormonogenesis. Genes associated with thyroid gland dysgenesis include the TSH receptor in non-syndromic congenital hypothyroidism, and G s α and the thyroid transcription factors (TTF-1, TTF-2, and Pax-8), associated with different complex syndromes that include congenital hypothyroidism. Among those causing dyshormonogenesis, the thyroid peroxidase and thyroglobulin genes were initially described, and more recently PDS (Pendred syndrome), NIS (sodium iodide symporter), and THOX2 (thyroid oxidase 2) gene defects. There is also early evidence for a third group of congenital hypothyroid conditions associated with iodothyronine transporter defects associated with severe neurological sequelae. This review focuses on the genetic aspects of primary congenital hypothyroidism.
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Cited by
The NOX Family of ROS-Generating NADPH Oxidases: Physiology and Pathophysiology
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Biological roles for the NOX family NADPH oxidases
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The Sodium/Iodide symporter (NIS): Molecular physiology and preclinical and clinical applications
Ravera, S., Reyna-Neyra, A., Ferrandino, G., Amzel, L. M., & Carrasco, N. (2017) · Annual Review of Physiology · doi:10.1146/annurev-physiol-022516-034125 · Cited by 298
Thyroid transcription factors in development, differentiation and disease
Fernández, L. P., López-Márquez, A., & Santisteban, P. (2015) · Nature Reviews Endocrinology · doi:10.1038/nrendo.2014.186 · Cited by 258
Metadata
- Authors
- Park, S. M., & Chatterjee, V. K. K.
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 2005-04-29
- Volume
- 42
- Issue
- 5
- Pages
- 379-389
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- OpenAlex
- W1994582012
- Cited by
- 403
- References
- 126
- FWCI
- 9.67
- Type
- journal article
- Language
- en
- Open access
- hybrid
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