Publications by authors named "B Lee Peterlin"

Background: Migraine is associated with obesity. These analyses evaluated weight change with atogepant used as a preventive migraine treatment.

Methods: Five atogepant clinical trials in adults with migraine (one phase 2b/3; four phase 3) were included: Three 12-week, randomized, placebo-controlled trials (episodic migraine: two; chronic migraine: one); one 40-week, open-label extension trial and one 52-week, standard care, randomized, long-term safety trial in episodic migraine.

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Article Synopsis
  • This study reviews past research on the link between maternal genetic variations and spontaneous preterm birth (sPTB), highlighting inconsistencies in findings.
  • The systematic review included 81 studies, primarily using hypothesis-based methods, and identified significant associations, particularly with the tumor necrosis factor α gene (rs1800629).
  • Ultimately, no single genetic variant was consistently linked to sPTB risk, but several genes were identified as potential areas for further research.
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Malformations of the brain are common and vary in severity, from negligible to potentially fatal. Their causes have not been fully elucidated. Here, we report pathogenic variants in the core protein-folding machinery TRiC/CCT in individuals with brain malformations, intellectual disability, and seizures.

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This study investigated the potential role of specific single-nucleotide polymorphisms (SNPs) in the genes (), (), , (), (), and () to assess whether these genetic variants contribute to the risk of spontaneous preterm birth (sPTB). A case-control study was conducted involving 573 women from Croatia and Slovenia: 248 with sporadic sPTB (positive personal and negative family history of sPTB before 37 weeks' gestation), 44 with familial sPTB (positive personal and family history of sPTB before 37 weeks' gestation), and 281 control women. The analysis of rs146756455, rs2963463, rs2946169, rs201450565, rs188343966, and rs1800629 SNPs was performed using TaqMan real-time PCR.

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Article Synopsis
  • - Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a rare genetic disorder that's autosomal dominant, linked to developmental delays, intellectual disabilities, and optic atrophy, along with a mix of other symptoms like seizures and autistic behavior, affecting about 1 in 100,000 to 250,000 individuals.
  • - The syndrome is caused by mutations in the NR2F1 gene, which is crucial for brain development and cell maturation. Most cases arise spontaneously (de novo), with one known instance linked to gonadal mosaicism.
  • - This report introduces two sisters diagnosed with BBSOAS due to a new mutation in the NR2F1 gene, suggesting potential gonadal mosaic
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