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Hence, in FXS pathology, the lack of FMRP leads to increased protein synthesis with a direct effect on dendritic spine dysgenesis and cognitive disabilities ( Fmr1 knockout (KO) mice and from human post-mortem brain biopsies showed increased amount and length of dendritic spines, with an immature profile (3537)

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These pathways are highly relevant to HS pathogenesis, which involves dysregulated innate immunity, chronic inflammation, and oxidative damage

Moreover, AMH receptors are also expressed in the hypothalamus, raising the possibility that circulating levels of this hormone may influence GnRH pulsatility 129