A5091678267- Ion channel regulation and function
- Cardiac electrophysiology and arrhythmias
- RNA Research and Splicing
- RNA and protein synthesis mechanisms
- Genetic Neurodegenerative Diseases
- Nicotinic Acetylcholine Receptors Study
- Cardiomyopathy and Myosin Studies
- Muscle Physiology and Disorders
- Heat shock proteins research
- Advanced MRI Techniques and Applications
- Medical and Biological Ozone Research
- Vitamin D Research Studies
- Skin Diseases and Diabetes
- Cutaneous lymphoproliferative disorders research
- Cutaneous Melanoma Detection and Management
- Cardiovascular Disease and Adiposity
- Functional Brain Connectivity Studies
- Nonmelanoma Skin Cancer Studies
- Photoacoustic and Ultrasonic Imaging
- Body Contouring and Surgery
- Neuroscience and Neuropharmacology Research
- Mitochondrial Function and Pathology
- Optical Imaging and Spectroscopy Techniques
- Acute Ischemic Stroke Management
- Psoriasis: Treatment and Pathogenesis
Third Xiangya Hospital
2020-2024
Central South University
2020-2024
University of Rochester Medical Center
2012-2020
National Institute of Neurological Disorders and Stroke
2012
National Institutes of Health
2012
University of Pittsburgh
2012
Howard Hughes Medical Institute
2007-2011
National Postdoctoral Association
2011
University of California, Los Angeles
2007-2009
National University of Singapore
2004-2007
Myotonic dystrophy type 1 and 2 (DM1 DM2) are genetic diseases in which mutant transcripts containing expanded CUG or CCUG repeats cause cellular dysfunction by altering the processing metabolism of specific mRNAs miRNAs. The toxic effects RNA mediated partly through on proteins that regulate alternative splicing. Here we show splicing exon 29 (E29) CaV1.1, a calcium channel controls skeletal muscle excitation–contraction coupling, is markedly repressed DM1 DM2. extent E29 skipping...
The L-type (Cav1.2) voltage-gated calcium channels play critical roles in membrane excitability, gene expression, and muscle contraction. generation of splice variants by the alternative splicing poreforming Cav1.2 alpha1-subunit (alpha(1)1.2) may thereby provide potent means to enrich functional diversity. To date, however, no comprehensive scan alpha(1)1.2 variation has been performed, particularly human context. Here we have undertaken such a screen, exploiting recently developed...
Background Mutations in the type 1 ryanodine receptor gene (RYR1) result malignant hyperthermia, a pharmacogenetic disorder typically triggered by administration of anesthetics. However, cases sudden death during exertion, heat challenge, and febrile illness absence triggering drugs have been reported. The underlying causes such drug-free fatal "awake" episodes are unknown. Methods De novo R3983C variant RYR1 was identified two unrelated children who experienced fatal, nonanesthetic awake...
CaV1.2 voltage-gated calcium channels play critical roles in the control of membrane excitability, gene expression, and muscle contraction. These show diverse functional properties generated by alternative splicing at multiple sites within pre-mRNA. The molecular mechanisms controlling this are not understood. We find that two exons channel controlled part members Fox family regulators. Exons 9* 33 confer distinct electrophysiological on opposite patterns regulation during cortical...
CaV1.2 calcium channels play roles in diverse cellular processes such as gene regulation, muscle contraction, and membrane excitation are diversified their activity through extensive alternative splicing of the mRNA. The mutually exclusive exons 8a 8 encode alternate forms transmembrane segment 6 (IS6) channel domain 1. human genetic disorder Timothy syndrome is caused by mutations either these two exons, resulting disrupted Ca(2+) homeostasis severe pleiotropic disease phenotypes....
Groom, Linda; Muldoon, Sheila M.; Tang, Zhen Zhi; Brandom, Barbara W.; Bayarsaikhan, Munkhuu; Bina, Saiid; Lee, Hee-Suk; Qiu, Xing; Sambuughin, Nyamkhishig; Dirksen, Robert T. Author Information
Myotonic dystrophy type 1 (DM1), the most common form of muscular in adults, results from expression toxic gain-of-function transcripts containing expanded CUG-repeats. DM1 patients experience cardiac electrophysiological defects, including prolonged PR-, QRS-, and QT-intervals, that increase susceptibility to sudden death (SCD). However, specific biophysical molecular mechanisms underlie electrocardiograph (ECG) abnormalities SCD are unclear. Here, we addressed this issue using a novel...
To evaluate the value of 50% reduced-dose cerebral computed tomography (CT)perfusion imaging (CTPI) to show perfusion abnormalities in Alzheimer’s disease (AD), as an attempt develop a new protocol with lower radiation dose track correlation AD regional blood flow abnormalities. A total 52 patients were assigned group and 28 healthy volunteers served control group. All participants given CTPI (current was reduced from 160 80 mA) test by multislice spiral CT scanner. Perfusion parameters...
Abstract Bowen's disease (BD) is a relatively rare early‐stage squamous cell carcinoma in situ, most commonly affecting the middle‐aged and elderly, occurring on skin or mucous membranes of various parts body. Its onset concealed, course chronic, some patients have malignant tumors outside skin; therefore, it necessary to diagnose evaluate at an early stage. This study aimed investigate application reflectance confocal microscopy (RCM) diagnosis BD. We performed RCM imaging lesion site...
Background: Acanthosis nigricans (AN) involves skin hyperpigmentation in body folds and creases. Obesity-associated AN (OB_AN) is the most common type of AN. The condition obese patients with can be improved through bariatric surgery, such as laparoscopic sleeve gastrectomy (LSG), after weight loss. However, contributing factors to remission surgery are still not fully determined. authors aimed assess metabolic pathological associated following LSG individuals. Methods: study included 319...
Abstract Background: Psoriasis is widely accepted as a metabolic syndrome with significantly abnormal lipid metabolism and high blood lipids keep patients in persistent low level of inflammatory condition. Hyperlipidemia associated reaction are believed to be the major risk factors contributing onset recurrence psoriasis. Peroxisome proliferator activated receptor-gamma (PPAR-γ) can effectively control inhibit reaction. Methods: Ozone autohemotherapy (OAHT) was applied treat psoriatic...