X-linked diseases: susceptible females
The role of X-inactivation is often ignored as a prime cause of sex differences in disease. Yet, the way males and females express their X-linked genes has a major role in the dissimilar phenotypes that underlie many rare and common disorders, such as intellectual deficiency, epilepsy, congenital ab...
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| Veröffentlicht in: | Genetics in medicine 2020-07, Vol.22 (7), p.1156-1174 |
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| creator | Migeon, Barbara R. |
| description | The role of X-inactivation is often ignored as a prime cause of sex differences in disease. Yet, the way males and females express their X-linked genes has a major role in the dissimilar phenotypes that underlie many rare and common disorders, such as intellectual deficiency, epilepsy, congenital abnormalities, and diseases of the heart, blood, skin, muscle, and bones. Summarized here are many examples of the different presentations in males and females. Other data include reasons why women are often protected from the deleterious variants carried on their X chromosome, and the factors that render women susceptible in some instances. |
| doi_str_mv | 10.1038/s41436-020-0779-4 |
| format | Article |
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| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Alma/SFX Local Collection |
| subjects | Biomedical and Life Sciences Biomedicine Disease Epilepsy - genetics Female Females Gender differences Genes Genes, X-Linked - genetics Human Genetics Humans Laboratory Medicine Male Males Phenotype Review Review Article Sex Characteristics Womens health X Chromosome Inactivation - genetics X chromosomes |
| title | X-linked diseases: susceptible females |
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