Publications by authors named "Chris D Balak"
Article Synopsis
- Mutations in the X-linked gene that encodes methyl-CpG-binding protein 2 are known to cause classical Rett syndrome (RTT) primarily in girls, while some patients present a 'Rett-syndrome-like phenotype' (RTT-L) without the typical mutations.
- The study reports on eight patients diagnosed with RTT-L who have mutations in genes not directly linked to classical RTT, and analyzes their genetic data along with insights from existing research to build a comprehensive network of protein interactions involving RTT and RTT-L genes.
- Functional analysis reveals key biological processes associated with these genes, highlighting the roles of specific transcription factors and suggesting that proteins HDAC1 and CHD4 may play crucial roles in the interaction network between RTT
Article Synopsis
- Pelizaeus-Merzbacher-like disease (PMLD) is a genetic disorder marked by neurological issues like early-onset nystagmus, developmental delays, and spasticity, resembling another condition called Pelizaeus-Merzbacher disease (PMD).
- A study reported a 12-year-old boy exhibiting classic PMLD symptoms and MRI results indicating severe myelination issues, linked to mutations in the SNAP29 gene.
- The research highlights that mutations in SNAP29, previously associated with a different syndrome (CEDNIK), can also contribute to PMLD, broadening our understanding of the disease's genetic causes.
Associations of Gene Variants With Superior Memory in SuperAgers.
Front Aging Neurosci
May 2018
: SuperAgers are adults age 80+ with episodic memory performance that is as good as that of average middle-aged adults. Understanding the biological determinants of SuperAging may have relevance to preventing age-related cognitive decline and dementia. This study aimed to identify associations between genetic variations and the SuperAging phenotype using Whole Exome Sequencing (WES).
View Article and Find Full Text PDFFunctional characterizations of rare variants in X-linked Spinal Muscular Atrophy.
F1000Res
September 2017
X-linked spinal muscular atrophy (XL-SMA) results from mutations in the Ubiquitin-Like Modifier Activating Enzyme 1 ( ). Previously, four novel closely clustered mutations have been shown to cause this fatal infantile disorder affecting only males. These mutations, three missense and one synonymous, all lie within Exon15 of the gene, which contains the active adenylation domain (AAD).
View Article and Find Full Text PDFAim: To explore differential DNA methylation (DNAm) in Aicardi syndrome (AIC), a severe neurodevelopmental disorder with largely unknown etiology.
Patients & Methods: We characterized DNAm in AIC female patients and parents using the Illumina 450 K array. Differential DNAm was assessed using the local outlier factor algorithm, and results were validated via qPCR in a larger set of AIC female patients, parents and unrelated young female controls.