Publications by authors named "E T ENGLE"
Mucins are a major component of the innate defense system in the airways and their biological functions are important to consider in pulmonary disease research. However, the available mucus models for basic research relevant to the lung can be difficult to acquire in sufficient quantity to conduct such studies. Here, we present a new strategy to isolate airway mucins from pig trachea at the milligram to gram scale for use in pulmonary disease research.
View Article and Find Full Text PDFUnsolved Mendelian cases often lack obvious pathogenic coding variants, suggesting potential non-coding etiologies. Here, we present a single cell multi-omic framework integrating embryonic mouse chromatin accessibility, histone modification, and gene expression assays to discover cranial motor neuron (cMN) cis-regulatory elements and subsequently nominate candidate non-coding variants in the congenital cranial dysinnervation disorders (CCDDs), a set of Mendelian disorders altering cMN development. We generate single cell epigenomic profiles for ~86,000 cMNs and related cell types, identifying ~250,000 accessible regulatory elements with cognate gene predictions for ~145,000 putative enhancers.
View Article and Find Full Text PDFArticle Synopsis
- The purpose of the study was to evaluate new human genes and variants related to ocular congenital cranial dysinnervation disorders (oCCDDs) using genetic sequencing methods.
- Researchers prioritized 43 human genes and 57 zebrafish genes through CRISPR/Cas9 knockout assays in zebrafish, ultimately generating mutants for 17 of those genes.
- The study identified three novel genes linked to cranial motor development and demonstrated that certain human gene variants may impair protein function, suggesting they could contribute to oCCDDs.
Article Synopsis
- This study aimed to identify the genetic causes and associations between genotype and phenotype in patients with unsolved ocular congenital cranial dysinnervation disorders (oCCDDs).
- Researchers analyzed data from 467 individuals with oCCDDs using exome or genome sequencing, revealing pathogenic variants in 43 probands and variants of uncertain significance in 70 others.
- The findings highlight the genetic diversity of oCCDDs and suggest that they may overlap with other genetic conditions, paving the way for further research on potential genetic links.
Oral Health-Related Quality of Life in Rare Disorders of Congenital Facial Weakness.
Int J Environ Res Public Health
May 2024
Article Synopsis
- Congenital facial weakness (CFW) is a rare condition that leads to reduced facial movement from birth, impacting oral health and quality of life.
- A study with 44 individuals with CFW showed significantly poorer oral health-related quality of life (OHRQoL) compared to age- and sex-matched controls, as measured by the Oral Health Impact Profile (OHIP-14).
- Specifically, those with Moebius syndrome experienced worse OHRQoL than those with hereditary congenital facial paresis, highlighting the need for specialized dental care guidelines for patients with CFW.