Publications by authors named "Charlene Crosby"
DNAJC3, a co-chaperone of BiP, is a member of the heat shock protein family. These proteins are produced in the endoplasmic reticulum (ER) to counter cell stress resulting from healthy functional protein processing. Dysregulation of unfolded proteins within the ER is implicated as a mechanism of genetic disease.
View Article and Find Full Text PDFVariants in the Protein Kinase CK2 alpha subunit, encoding the CSNK2A1 gene, have previously been reported in children with an intellectual disability and dysmorphic facial features syndrome: now termed the Okur-Chung neurodevelopmental syndrome. More recently, through trio-based exome sequencing undertaken by the Deciphering Developmental Disorders Study (DDD study), a further 11 children with de novo CSNK2A1 variants have been identified. We have undertaken detailed phenotyping of these patients.
View Article and Find Full Text PDFPreterm delivery is associated with neurodevelopmental impairment caused by environmental and genetic factors. Dysfunction of the excitatory amino acid transporter 2 (EAAT2) and the resultant impaired glutamate uptake can lead to neurological disorders. In this study, we investigated the role of single nucleotide polymorphisms (SNPs; g.
View Article and Find Full Text PDFArticle Synopsis
- - The study aimed to compare different methods for detecting EGFR mutations in tumor samples from patients with non-small cell lung cancer, as these mutations help predict responses to specific treatments.
- - Eleven laboratories tested coded samples with mutation levels ranging from 0% to 15%, focusing on two key mutations, p.L858R and c.2235_2249del, which are common in about 90% of mutation-positive cases.
- - Results showed that various techniques like Sanger sequencing and pyrosequencing had better sensitivity than previously reported levels, with a 96% detection rate for samples containing at least 5% mutated DNA, indicating that multiple testing methods are effective for identifying EGFR mutations.