Article

Evidence for an FMR1 mRNA Gain-Of-Function Toxicity Mechanism in the Pathogenesis of Fragile-X Associated Premature Ovarian Insufficiency

2021-09-28

Abstract excerpt

<title>Abstract</title> <p>Fragile X-associated premature ovarian insufficiency (FXPOI) is caused by expansion of a CGG repeat sequence located in the 5’ untranslated region of the <italic>FMR1</italic> gene. Women with FXPOI have a depleted ovarian reserve, resulting in amenorrhea, hypoestrogenism, and loss of fertility before the age of 40. FXPOI is caused by CGG sequence expansions to lengths between 55 and 20...

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Literature Corpus work: 086336c0-05e7-54e0-8ea2-03cded6828c3
DOI: 10.21203/rs.3.rs-904337/v1

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