A5090364258- Ion Transport and Channel Regulation
- Mitochondrial Function and Pathology
- Muscle Physiology and Disorders
- Cardiomyopathy and Myosin Studies
- Nuclear Structure and Function
- ATP Synthase and ATPases Research
- Epilepsy research and treatment
- Pharmacological Effects and Toxicity Studies
- Genomics and Rare Diseases
Phoenix Children's Hospital
2022-2024
University of Pittsburgh
2023
Abstract The vacuolar H+-ATPase is an enzymatic complex that functions in ATP-dependent manner to pump protons across membranes and acidify organelles, thereby creating the proton/pH gradient required for membrane trafficking by several different types of transporters. We describe heterozygous point variants ATP6V0C, encoding c-subunit bound integral domain H+-ATPase, 27 patients with neurodevelopmental abnormalities or without epilepsy. Corpus callosum hypoplasia cardiac were also present...
Duchenne muscular dystrophy (DMD) is a rare genetic disorder caused by the absence of fully functional dystrophin protein in myocytes. In skeletal muscle, lack ultimately results muscle wasting and replacement myocytes with fatty or fibrous tissues. heart, cardiomyocytes eventually fail cause fatal cardiomyopathy. We present case male patient his younger brother maternally inherited inverted insertion approximately 306 kb chromosome 10 deep intronic region between exons 44 45
Abstract Epilepsy is a common, and often genetic, neurological disorder. Few guidelines exist to help medical providers or insurance companies decide when order cover epilepsy panels for patients with epilepsy. The most recent were published by NSGC after this study's data collection. Since 2017, the Genetic Testing Stewardship Program (GTSP) at UPMC Children's Hospital of Pittsburgh (CHP) has been utilizing set internally developed panel (EP) testing criteria facilitate appropriate EP...