Stephanie M. Robert
A5036629952- Neuroscience and Neuropharmacology Research
- Meningioma and schwannoma management
- Cerebrospinal fluid and hydrocephalus
- Neurofibromatosis and Schwannoma Cases
- Glioma Diagnosis and Treatment
- Fetal and Pediatric Neurological Disorders
- Epilepsy research and treatment
- Traumatic Brain Injury and Neurovascular Disturbances
- Amino Acid Enzymes and Metabolism
- Genomics and Rare Diseases
- Bone Tumor Diagnosis and Treatments
- Intracerebral and Subarachnoid Hemorrhage Research
- Cervical and Thoracic Myelopathy
- Hedgehog Signaling Pathway Studies
- Spine and Intervertebral Disc Pathology
- RNA regulation and disease
- Drug Transport and Resistance Mechanisms
- Brain Metastases and Treatment
- Genetic and Kidney Cyst Diseases
- Ion channel regulation and function
- Sulfur Compounds in Biology
- Nuclear Receptors and Signaling
- Tuberous Sclerosis Complex Research
- Genetics and Neurodevelopmental Disorders
- Musculoskeletal pain and rehabilitation
Yale University
2019-2025
Smilow Cancer Hospital
2022
Yale New Haven Hospital
2022
Virginia Tech
2017
Carilion Clinic
2017
University of Alabama at Birmingham
2013-2015
University of California, Irvine
2004-2005
SLC7A11, the catalytic subunit of cystine/glutamate antiporter, System x c − (SXC), is up-regulated in a subpopulation patient gliomas, where it responsible for excitotoxic glutamate release, accelerated tumor growth, and tumor-associated seizures.
Seizures frequently accompany gliomas and often escalate to peritumoral epilepsy. Previous work revealed the importance of tumor-derived excitatory glutamate (Glu) release mediated by cystine-glutamate transporter (SXC) in epileptogenesis. We now show a novel contribution GABAergic disinhibition disease pathophysiology. In validated mouse glioma model, we found that parvalbumin-positive inhibitory interneurons are significantly reduced, corresponding with deficits spontaneous evoked...
Main Points Using the NCI database, we found that upregulation of KCa3.1 correlates with poor prognosis in patients. Pharmacological inhibition or genetic knockdown decreases glioma migration, as investigated vitro and situ multiple cell types, including patient‐derived xenograft‐propagated tumors. Glioma invasion is also attenuated by shRNA tumor cells implanted mice vivo .
<h3>Importance</h3> Moyamoya disease (MMD), a progressive vasculopathy leading to narrowing and ultimate occlusion of the intracranial internal carotid arteries, is cause childhood stroke. The MMD poorly understood, but genetic factors play role. Several familial forms have been identified, most cases remains elusive, especially among non–East Asian individuals. <h3>Objective</h3> To assess whether ultrarare de novo rare, damaging transmitted variants with large effect sizes are associated...
Previous studies have shown that a cellular inflammatory response is initiated, and cytokines are synthesized, following experimental spinal cord injury (SCI). In the present study, we tested hypothesis complement cascade, major component of both innate adaptive immune response, also activated SCI. We investigated pathways, localization, timecourse, degree activation in rat acute contusion-induced SCI using New York University (NYU) weight drop impactor. Mild severe injuries (12.5 50 mm...
Abstract Pediatric hydrocephalus, the leading reason for brain surgery in children, is characterized by enlargement of cerebral ventricles classically attributed to cerebrospinal fluid (CSF) overaccumulation. Neurosurgical shunting reduce CSF volume default treatment that intends reinstate normal homeostasis, yet neurodevelopmental disability often persists hydrocephalic children despite optimal surgical management. Here, we discuss recent human genetic and animal model studies are shifting...
Congenital hydrocephalus (CH), characterized by incomplete clearance of CSF and subsequent enlargement brain ventricles, is the most common congenital disorder. The lack curative strategies for CH reflects a poor understanding underlying pathogenesis. Herein, authors present an overview recent findings in pathogenesis from human genetic studies discuss implications these treatment CH. Findings omics data have potential to reclassify according molecular nomenclature that may increase...
We have previously described the activation of classical, alternative, and terminal complement cascade pathways after acute contusion spinal cord injury using New York University (NYU) weight-drop impactor. In present study, we examined induction protein regulators cascade, factor H (FH), clusterin, in same experimental paradigm. The laminectomized adult rats was subjected to mild or severe impactor heights 12.5 50 mm, respectively. cords control injured animals were evaluated at 1, 7, 42...
BackgroundAcute Kidney Injury (AKI) is associated with adverse outcomes; therefore identifying patients who are at risk of developing AKI in hospital may lead to targeted prevention.
Abstract Background Multiple meningiomas (MMs) rarely occur sporadically. It is unclear whether each individual tumor in a single patient behaves similarly. Moreover, the molecular mechanisms underlying formation of sporadic MMs and clonal etiology these tumors are poorly understood. Methods Patients with spatially separated without prior radiation exposure or family history who underwent surgical resection at least two were included. Unbiased, comprehensive next generation sequencing was...
Abstract Importance Mesial temporal lobe epilepsy (MTLE) is the most common focal subtype and often refractory to anti-seizure medications. While MTLE patients do not have pathogenic germline genetic variants, contribution of post-zygotic (i.e., somatic) variants in brain unknown. Objective To test association between somatic hippocampus MTLE. Design This case-control study analyzed DNA derived from hippocampal tissue neurosurgically-treated with age- sex-matched neurotypical controls....