Molecular mechanisms associated with 46,XX disorders of sex development
| Autor: | Andrew H. Sinclair, Ingrid M. Knarston, Katie L. Ayers |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Genetics endocrine system Sexual differentiation Gonad 46 XX Disorders of Sex Development Ovary General Medicine Biology medicine.disease Cell biology Novel gene 03 medical and health sciences 030104 developmental biology medicine.anatomical_structure medicine Animals Humans Disorders of sex development Gonads Female gonad Signalling pathways |
| Zdroj: | Clinical science (London, England : 1979). 130(6) |
| ISSN: | 1470-8736 |
| Popis: | In the female gonad, distinct signalling pathways activate ovarian differentiation while repressing the formation of testes. Human disorders of sex development (DSDs), such as 46,XX DSDs, can arise when this signalling is aberrant. Here we review the current understanding of the genetic mechanisms that control gonadal development, with particular emphasis on those that drive or inhibit ovarian differentiation. We discuss how disruption to these molecular pathways can lead to 46,XX disorders of ovarian development. Finally, we look at recently characterized novel genes and pathways that contribute and speculate how advances in technology will aid in further characterization of normal and disrupted human ovarian development. |
| Databáze: | OpenAIRE |
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