Mouse model for men with klinefelter syndrome: a multifaceted fit for a complex disorder
| Autor: | Peter Liu, Ronald S. Swerdloff, Christina Wang, Krista Erkkilä, Yanhe Lue |
|---|---|
| Rok vydání: | 2011 |
| Předmět: |
Genetics
0303 health sciences medicine.medical_specialty medicine.drug_class Sexual Differentiation Disorder Aneuploidy General Medicine Biology Androgen medicine.disease Phenotype Germline X-inactivation 03 medical and health sciences 0302 clinical medicine Endocrinology Internal medicine Pediatrics Perinatology and Child Health Androgen deficiency medicine Klinefelter syndrome 030217 neurology & neurosurgery 030304 developmental biology |
| Zdroj: | Acta Paediatrica. 100:892-899 |
| ISSN: | 0803-5253 |
| Popis: | 41 XXY mouse models share many characteristics of the human 47XXY Klinefelter syndrome (KS). This manuscript discusses the relative role of androgen deficiency and X chromosome genes resulting in the XXY mouse phenotype. The similarities in phenotype between 47XXY men and 41XXY mice suggest that the clinical manifestations in XXY men may be because of gene-dosage effect from genes that escape X inactivation in mouse. Conclusion: The 41XXY mouse is an excellent model for KS. |
| Databáze: | OpenAIRE |
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