Publications by authors named "J K Babus"

Article Synopsis
  • Mutations in the NPRL3 gene, linked to epilepsy and brain development issues, were studied in a Mennonite community, revealing a 28% rate of epilepsy with diverse clinical symptoms.* -
  • Researchers used CRISPR/Cas9 to knock out Nprl3 in mouse brain cells, finding that its absence leads to excessive mTOR pathway activation and abnormal cell behavior, which can be mitigated by mTOR inhibitors.* -
  • No specific genetic modifiers were identified that could explain the variability in seizure occurrence among the subjects, indicating that NPRL3 plays a significant role in mTOR signaling and potential epilepsy mechanisms.*
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Humans are chronically exposed to the plasticizer, Bisphenol A (BPA), that can adversely affect the normal hormonal regulation of cellular functions by mimicking the actions of estrogen. This biological response to BPA may vary according to an individual's genetic characteristics (e.g.

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Methoxychlor (MXC), an organochlorine pesticide, inhibits growth and induces atresia of antral follicles in rodents. MXC metabolites, mono-OH MXC (mono-OH) and bis-OH MXC (HPTE), are thought to be more toxic than the parent compound. Although studies have examined effects of MXC in rodents, few studies have evaluated the effects of MXC in primates.

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It is believed that the endowment of primordial follicles in mammalian ovaries is finite. Once follicles are depleted, infertility ensues. Thus, the size of the initial endowment has consequences for fertility and reproductive longevity.

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The aryl hydrocarbon receptor (AHR) mediates the toxicity of a variety of environmental chemicals. Although little is known about the physiological role of the AHR, studies suggest that it plays an important role in regulating ovulation because Ahr deficient (AhRKO) mice have a reduced number of ovulations compared to wild-type (WT) mice. The reasons for the reduced ability of AhRKO mice to ovulate are unknown.

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