A5088035134- Genetics and Neurodevelopmental Disorders
- Autism Spectrum Disorder Research
- Family and Disability Support Research
- Fungal and yeast genetics research
- Bioinformatics and Genomic Networks
- Genomic variations and chromosomal abnormalities
- Light effects on plants
- Epilepsy research and treatment
- Neurogenesis and neuroplasticity mechanisms
- Gene expression and cancer classification
- Biotin and Related Studies
- Genomics and Chromatin Dynamics
- CRISPR and Genetic Engineering
- Adolescent and Pediatric Healthcare
- bioluminescence and chemiluminescence research
- Photosynthetic Processes and Mechanisms
- Congenital heart defects research
- Photoreceptor and optogenetics research
- Childhood Cancer Survivors' Quality of Life
- Epigenetics and DNA Methylation
- Glycosylation and Glycoproteins Research
- Neurological disorders and treatments
- DNA Repair Mechanisms
- RNA Research and Splicing
- Acupuncture Treatment Research Studies
Texas Children's Hospital
2009-2025
Baylor College of Medicine
2013-2025
Stella Therapeutics (United States)
2024
University of Colorado Anschutz Medical Campus
2023
Vanderbilt University Medical Center
2023
University of Alabama at Birmingham
2023
Vanderbilt University
2023
Children's Hospital of Philadelphia
2023
Neurological Research Institute
2022
Harvard University
2020-2021
A genetic interaction network containing approximately 1000 genes and 4000 interactions was mapped by crossing mutations in 132 different query into a set of 4700 viable gene yeast deletion mutants scoring the double mutant progeny for fitness defects. Network connectivity predictive function because often occurred among functionally related genes, similar patterns tended to identify components same pathway. The exhibited dense local neighborhoods; therefore, position on partially is other...
Acetylation of Saccharomyces cerevisiae histone H3 on K56 by the acetyltransferase (HAT) Rtt109 is important for repairing replication-associated lesions. purifies from yeast in complex with chaperone Vps75, which stabilizes HAT vivo. A whole-genome screen to identify genes whose deletions have synthetic genetic interactions rtt109Delta suggests has functions addition DNA repair. We show that its known H3-K56 acetylation activity, also an H3-K9 HAT, and we Gcn5 are only HATs Rtt109's...
MECP2 duplication syndrome is a childhood neurological disorder characterized by intellectual disability, autism, motor abnormalities, and epilepsy. The caused duplications spanning the gene encoding methyl-CpG-binding protein-2 (MeCP2), protein involved in modulation of chromatin expression. MeCP2 thought to play role maintaining structural integrity neuronal circuits. Loss function causes Rett results abnormal dendritic spine morphology decreased pyramidal arbor complexity density....
Rett syndrome (RTT) is a severe neurodevelopmental disorder with complex medical comorbidities extending beyond the nervous system requiring attention of health professionals. There no peer-reviewed, consensus-based therapeutic guidance to care in RTT. The objective was provide consensus on best practice for addressing these concerns.Informed by literature and using modified Delphi approach, process used develop RTT professionals.Typical presents early childhood clinically recognisable...
Abstract Objective Recent advances in the understanding of neurodevelopmental disorders such as Rett syndrome (RTT) have enabled discovery novel therapeutic approaches that require formal clinical evaluation efficacy. Clinical trial success depends on outcome measures assess features are most impactful for affected individuals. To determine top concerns RTT and RTT-related we asked caregivers to list caregiver guide development selection appropriate these disorders. Methods Caregivers...
Poly(dA·dT) sequences (T-tracts) are abundant genomic DNA elements with unusual properties in vitro and an established role transcriptional regulation of yeast genes. In T-tracts rigid, contribute to bending, affect assembly nucleosomes generate a characteristic pattern CPDs (cyclobutane pyrimidine dimers) upon irradiation UV light (UV photofootprint). eukaryotic cells, where is packaged chromatin, the structure unknown. Here we have used vivo photofootprinting repair by photolyase...
Cell death after traumatic brain injury (TBI) evolves over days to weeks. Despite advances in understanding biochemical mechanisms that contribute posttraumatic cell death, the time course of injury, and removal remains incompletely characterized experimental TBI models. In a mouse controlled cortical impact (CCI) model, plasmalemma permeability propidium iodide (PI) was an early persistent feature cellular cortex hippocampus. hippocampal regions known be vulnerable number PI + cells peaked...
Abstract Mutations in the X‐linked gene MECP2 are associated with a severe neurodevelopmental disorder, Rett syndrome (RTT), primarily girls. It had been suspected that mutations Methyl‐CpG‐binding protein 2 ( ) led to embryonic lethality males, however such males have reported. To enhance understanding of phenotypic spectrum present these individuals, we identified 30 RTT Natural History Study databases. A wide was observed, ranging from neonatal encephalopathy cognitive impairment. Two...
Significance The QTY (glutamine, threonine, and tyrosine) code-designed detergent-free chemokine receptors may be useful in many applications. variants not only as reagents deorphanization studies but also for designing biologics to treat cancer autoimmune or infectious diseases. code allows membrane proteins systematically designed through simple, specific amino acid substitutions. is robust straightforward: It the simplest tool carry out protein design without sophisticated computer...
Rett syndrome is a genetically based neurodevelopmental disorder. Although the clinical consequences of are profound and lifelong, currently no approved drug treatments available specifically targeted to symptoms. High quality outcome measures, specific core symptoms disorder critical component well-designed trials for individuals with disorders. The Clinical Global Impression Scale measure global change strong face validity that has been widely used as an in central nervous system Despite...
In addition to functionally affected neuronal signaling pathways, altered axonal, dendritic, and synaptic morphology may contribute hippocampal hyperexcitability in chronic mesial temporal lobe epilepsies (MTLE). The sclerotic hippocampus Ammon's horn sclerosis (AHS)-associated MTLE, which shows segmental cell loss, axonal reorganization, astrogliosis, would appear particularly susceptible such changes. To characterize the cellular pathology we have analyzed hilar neurons surgical specimens...
Abstract Mutations in genes encoding the origin recognition complex (ORC) of Saccharomyces cerevisiae affect initiation DNA replication and transcriptional repression at silent mating-type loci. To explore function ORC more detail, a screen for genetic interactions was undertaken using large-scale synthetic lethal analysis. Combination orc2-1 orc5-1 alleles with complete set haploid deletion mutants revealed lethal/sick phenotypes involved replication, chromatin structure, checkpoints,...
Individuals with methyl CpG binding protein 2 (MECP2) duplication syndrome (MDS) have varying degrees of severity in their mobility, hand use, developmental skills, and susceptibility to infections. In the present study, we examine relationship between size, gene content, overall phenotype MDS using a clinical scale. Other genes typically duplicated within Xq28 (eg, GDI1, RAB39B, FLNA) are associated distinct features independent MECP2. We additionally compare this cohort (n = 48) other...
Abstract Background CDKL5 deficiency disorder (CDD) is associated with refractory infantile onset epilepsy, global developmental delay, and variable features that include sleep, behavioral disturbances, movement disorders. Current treatment primarily symptom-based informed by experience in caring for this population. Methods We describe medication non-medication approaches to of epilepsy additional key neurologic symptoms (sleep issues, disorders, swallowing dysfunction) a cohort 177...
Abstract Background/aims We aimed to develop a validated patient-reported Gastrointestinal Health Scale (GHS) specific MECP2 Duplication Syndrome (MDS) be used in clinical trials. Methods MDS parents completed Questionnaire (GHQ) investigate the most relevant and important items associated with gastrointestinal problems MECP2-related disorders. Item reduction was executed according EORTC guidelines. performed reliability validity studies for finalized scale. Results A total of 106 surveys...