A5024619954- Pancreatic function and diabetes
- Regulation of Appetite and Obesity
- Metabolism, Diabetes, and Cancer
- Metabolism and Genetic Disorders
- Diabetes Management and Research
- Connective tissue disorders research
- Diabetes and associated disorders
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Mitochondrial Function and Pathology
- Sleep and Wakefulness Research
- Genomics and Chromatin Dynamics
- Biochemical Analysis and Sensing Techniques
- Cardiovascular and Diving-Related Complications
- Amino Acid Enzymes and Metabolism
- Prenatal Screening and Diagnostics
- Cardiovascular Disease and Adiposity
- Cardiac tumors and thrombi
- Agriculture and Biological Studies
- Protein Tyrosine Phosphatases
- Craniofacial Disorders and Treatments
- dental development and anomalies
- Kruppel-like factors research
- Dietary Effects on Health
- Neurogenetic and Muscular Disorders Research
Mayo Clinic in Florida
2024-2025
WinnMed
2024-2025
Mayo Clinic in Arizona
2024
Mayo Clinic
2022-2024
Hospital for Sick Children
2020-2024
University of Toronto
2013-2022
SickKids Foundation
2020-2022
John Wiley & Sons (United States)
2020
Hudson Institute
2020
Harvard University
2011-2014
As patients decline from health to type 2 diabetes, glucose-stimulated insulin secretion (GSIS) typically becomes impaired. Although GSIS is driven predominantly by direct sensing of a rise in blood glucose pancreatic β-cells, there growing evidence that hypothalamic neurons control other aspects peripheral metabolism. Here we investigated the role brain modulation GSIS. To examine effects increasing or decreasing on tolerance and secretion, inhibitors glucokinase, respectively, were infused...
Impaired counterregulation during hypoglycemia in type 1 diabetes (T1D) is partly attributable to inadequate glucagon secretion. Intra-islet somatostatin (SST) suppression of hypoglycemia-stimulated α-cell release plays an important role. We hypothesized that can be prevented autoimmune T1D by SST receptor 2 (SSTR2) antagonism α-cells, which relieve SSTR2 inhibition, thereby increasing Diabetic biobreeding diabetes-prone (BBDP) rats mimic insulin-dependent human T1D, whereas nondiabetic BBDP...
Pharmacological compounds enhancing serotonergic tone significantly decrease food intake and are among the most clinically efficacious treatments for obesity. However, central mechanisms through which modulate feeding behavior have not been fully defined. The primary relay center receiving visceral gastrointestinal information in nervous system is nucleus of solitary tract (NTS) caudal brainstem. Here we investigated whether classic anorectic serotonin receptor agonist...
Maintaining glucose levels within the appropriate physiological range is necessary for survival. The identification of specific neuronal populations, discreet brain regions, sensitive to changes in concentration has led hypothesis a central glucose-sensing system capable directly modulating feeding behaviour. Glucokinase (GK) been identified as glucose-sensor responsible detecting such both and periphery. We previously reported that antagonism centrally expressed GK by administration...
The risk of iatrogenic hypoglycemia is increased in diabetic patients who lose defensive glucoregulatory responses, including the important warning symptom hunger. Protective hunger symptoms during may be triggered by hypothalamic glucose-sensing neurons monitoring changes downstream glucose phosphorylation specialized hexokinase, glucokinase (GK), metabolism. Here we investigated effects intracerebroventricular (ICV) infusion glucosamine (GSN), a GK inhibitor, on food intake at...
Hypoglycemia or glucoprivation triggers protective hormonal counterregulatory and feeding responses to aid the restoration of normoglycemia. Increasing evidence suggests pertinent roles for brain in sensing mediating counterregulation, however, precise nature metabolic signals molecular mediators linking central glucose effector functions are not fully understood. Here, we demonstrate that hypoglycemia regulated by BAD, a BCL-2 family protein with dual apoptosis metabolism. BAD-deficient...
Arginase 1 (ARG1) deficiency manifests with hyperargininemia and progressive neurological impairment. Recent estimates of birth prevalence using allele frequencies
Mitochondrial 3-Hydroxy-3-methylglutaryl-CoA Synthase (mHS) deficiency is an ultra-rare inborn error of ketone body synthesis that caused by homozygous and compound heterozygous mutations in HMGCS2. Clinical manifestations HMGCS2-related mHS can include a variable combination hypoketotic hypoglycemia, metabolic acidosis, lethargy, encephalopathy, mild hyperammonemia hepatomegaly. There are growing reports atypical presentations speculations the disorder likely to be underdiagnosed. Here we...
Arginase 1 (ARG1) deficiency manifests with hyperargininemia and progressive neurological impairment. Recent estimates of birth prevalence using allele frequencies ARG1 variants do not sufficiently distinguish benign from pathogenic variants. Additionally, ongoing discussions reproductive carrier screening for diseases such as ARG1, creates a need improved understanding variant classification. Here, we incorporate ACMG/AMP developed guidelines interpreting gene in silico predictions to...
<title>Abstract</title> Chromosome 4p16.3 microdeletions are known to cause Wolf–Hirschhorn syndrome (WHS), which is characterized by a distinct craniofacial gestalt and multiple congenital malformations. The region encompasses WHS critical 1 (WHSCR1) 2 (WHSCR2). WHSCR contains several genes that have been implicated in the phenotype including: candidate [<italic>WHSC1</italic>(aka <italic>NSD2</italic>, OMIM 602952)], [<italic>WHSC2</italic> (aka <italic>NELFA</italic>, 606026)],...
Abstract With the increasing opportunities for medical management of von Hippel–Lindau (VHL)-related lesions, fundamental questions are arising regarding possibilities FDA-approved medication (Belzutifan) to delay progression other non-VHL-related tumors that not requiring urgent surgical interventions. We present a follow-up report on VHL patient, with co-morbid history pulmonary mucosa-associated lymphoid tissue lymphoma, who was initially described in clinical scientific literature ~10...
Introduction/Background: Loeys-Dietz syndrome (LDS) is a rare autosomal dominant aortic aneurysm characterized by arterial tortuosity resulting in aneurysms and dissections, with unique craniofacial skeletal features including bifid uvula, cleft palate hypertelorism. While the presence of atrial fibrillation (Afib) arrhythmias have been reported LDS patients, limited investigation has completed regarding associated risk severity vascular complications relationship to these arrhythmias1,2....