Publications by authors named "Sabrina X Huang"
Objective: To characterize incidence of mandibular anomalies (MAs) and compare gestational age, airway interventions, and complications among individuals with MA phenotypes (isolated retrognathia, isolated micrognathia, syndromic micrognathia, micrognathia plus cleft palate/cleft lip and palate, agnathia/micrognathia plus cervical auricle/otocephaly, and agnathia/micrognathia plus microstomia) and unaffected individuals.
Methods: The Healthcare Cost and Utilization Project Kids' Inpatient Database was used to collect data over a 20-year period beginning in 2000. Interventions were classified as perinatal when performed on day of life (DOL) 0 or 1 and subsequent when performed during the birth hospitalization after DOL 1.
Article Synopsis
- FMRP deficiency causes fragile X syndrome (FXS), affecting prenatal brain development in humans and macaques.
- FMRP is crucial for regulating essential genes, and its deficiency leads to mitochondrial dysfunctions and hyperexcitability in neurons derived from FXS patients.
- Targeting mitochondrial dysfunction may offer a potential treatment strategy to mitigate the developmental issues associated with FMRP deficiency.
Fragile X messenger ribonucleoprotein 1 protein (FMRP) binds many mRNA targets in the brain. The contribution of these targets to fragile X syndrome (FXS) and related autism spectrum disorder (ASD) remains unclear. Here, we show that FMRP deficiency leads to elevated microtubule-associated protein 1B (MAP1B) in developing human and non-human primate cortical neurons.
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