A5004817854- Sphingolipid Metabolism and Signaling
- Genetics and Neurodevelopmental Disorders
- Cellular transport and secretion
- Lipid Membrane Structure and Behavior
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Innovative Teaching Methods
- Epilepsy research and treatment
- Ion channel regulation and function
- Career Development and Diversity
- RNA regulation and disease
- Education, Achievement, and Giftedness
- Substance Abuse Treatment and Outcomes
- ATP Synthase and ATPases Research
- Virus-based gene therapy research
- Caveolin-1 and cellular processes
- Fetal and Pediatric Neurological Disorders
- Child Abuse and Trauma
- Prenatal Screening and Diagnostics
- Gender Roles and Identity Studies
- Intergenerational Family Dynamics and Caregiving
- Microtubule and mitosis dynamics
- Genetic Neurodegenerative Diseases
- LGBTQ Health, Identity, and Policy
- Wnt/β-catenin signaling in development and cancer
College of the Desert
2024
Kansas City University
2024
The University of Adelaide
2013-2023
University of Southern California
2021-2023
University of Massachusetts Dartmouth
2022
Northridge Hospital Medical Center
2021
California State University, Northridge
2021
California State University System
2021
Centre for Cancer Biology
2010-2016
South Australia Pathology
2010-2016
Protocadherin 19 (PCDH19) female limited epilepsy (PCDH19-FE; also known as and mental retardation to females, EFMR; MIM300088) is an infantile onset syndrome with or without intellectual disability (ID) autism. We investigated transcriptomes of PCDH19-FE control primary skin fibroblasts, which are endowed metabolize neurosteroid hormones. identified a set 94 significantly dysregulated genes in females. Intriguingly, 43 the (45.7%) showed gender-biased expression; enrichment such was highly...
// Melissa R. Pitman 1 , Jason A. Powell 1, 3 Carl Coolen Paul A.B. Moretti Julia Zebol Duyen H. Pham John W. Finnie 4, 5 Anthony S. Don 6 Lisa M. Ebert Claudine Bonder 2, Briony L. Gliddon Stuart Pitson 3, * Centre for Cancer Biology, University of South Australia and SA Pathology, Adelaide, 5000, 2 School Molecular Biomedical Science, 5005, Medicine, 4 Veterinary Hanson Institute Neurological Diseases, Prince Wales Clinical School, New Wales, Sydney, NSW 2052, Correspondence to: Pitson,...
While both human sphingosine kinases (SK1 and SK2) catalyze the generation of pleiotropic signaling lipid 1-phosphate, these enzymes appear to be functionally distinct. SK1 has well described roles in promoting cell survival, proliferation neoplastic transformation. The SK2, its contribution cancer, however, are much less clear. Some studies have suggested an anti-proliferative/pro-apoptotic function for while others indicate it a pro-survival role inhibition can anti-cancer effects. Our...
Abstract Protocadherin-19 ( PCDH19 ) pathogenic variants cause an early-onset seizure disorder called girls clustering epilepsy (GCE). GCE is X-chromosome that affects heterozygous females and mosaic males, however hemizygous (“transmitting”) males are spared. We aimed to define the neuropsychiatric profile associated with determine if a clinical exists for transmitting males. also examined genotype- phenotype–phenotype associations. developed online survey comprising following standardized...
De novo and inherited mutations of X-chromosome cell adhesion molecule protocadherin 19 (PCDH19) cause frequent, highly variable epilepsy, autism, cognitive decline behavioural problems syndrome. Intriguingly, hemizygous null males are not affected while heterozygous females are, contradicting established inheritance. The disease mechanism is known. Cellular mosaicism the likely driver. We have identified p54nrb/NONO, a multifunctional nuclear paraspeckle protein with known roles in hormone...
Purpose: Young Black and Latino sexual minority men may experience multiple stressors, which negatively impact behavioral health. To investigate this, longitudinal associations between stressors health outcomes were examined over a 2-year period. Methods: Data from the Healthy Men's Cohort Study. The present study used five waves of data collected every 6 months 2016 to 2019. Participants young and/or in Los Angeles, California (n = 448; aged 16-24). self-reported their experiences racial...
Chemistry self-efficacy (CSE) was identified as a critical affective construct to predict student success in chemistry classrooms. We surveyed students at the beginning and toward end of semester measure students’ CSE beliefs introductory general courses Hispanic-serving institution United States. First, relationships between (initial end) achievement measured by course GPA were examined. Second, trends changes over relation several aspects characteristics including level, gender,...
Tetracycline-regulated expression systems have been widely used for inducible protein in cultured mammalian cells. With these systems, however, leakiness of the target gene absence inducing agent is a frequent problem. Here we describe novel approach to overcome this problem that involves incorporation AU-rich mRNA destabilizing elements (AREs) into 3′ untranslated regions tetracycline-inducible constructs. Using sphingosine kinase 1 and 2 HEK293 cells as model found ARE be remarkably...
Aicardi Syndrome (AIC) is a rare neurodevelopmental disorder recognized by the classical triad of agenesis corpus callosum, chorioretinal lacunae and infantile epileptic spasms syndrome. The diagnostic criteria AIC were revised in 2005 to include additional phenotypes that are frequently observed this patient group. has been traditionally considered as X-linked male lethal because it almost exclusively affects females. Despite numerous genetic genomic investigations on AIC, unifying cause...
College-level introductory chemistry has a high impact for predicting students’ early success and long-term academic outcomes. Students from traditionally underserved communities are disproportionately held back in this course. To improve student success, the Supplemental Instruction (SI) program at public four-year Hispanic-serving institution was revamped voluntary option to co-requisite The study evaluates effectiveness of new format SI explores associated factors contributing impacts...
PCDH19 is a nonclustered protocadherin molecule involved in axon bundling, synapse function, and transcriptional coregulation. Pathogenic variants cause infantile-onset epilepsy known as PCDH19-clustering or PCDH19-CE. Recent advances DNA-sequencing technologies have led to significant increase the number of reported PCDH19-CE variants, many uncertain significance. We aimed determine best approaches for assessing disease relevance missense PCDH19. The application American College Medical...
In continuation of our studies on pyridine derivatives with first row transition metal sulfates we determined the molecular structures a series pyridine, 4-methylpyridine, 3-methylpyridine, and 3,5-dimethylpyridine aqua sulfate complexes.The methylpyridine complexes generate that show infinite one dimensional polymeric chains alternating ions sulfato ligands general form {[M(H2O)2(Py)2]SO4}x .The are in octahedral environments cis to each other trans liqands.Intermolecular hydrogen bonding...