A5044029270- Muscle Physiology and Disorders
- RNA Research and Splicing
- Cardiomyopathy and Myosin Studies
- Genomics and Rare Diseases
- Neurogenetic and Muscular Disorders Research
- Adipose Tissue and Metabolism
- Cellular Mechanics and Interactions
- Cerebrospinal fluid and hydrocephalus
- RNA modifications and cancer
- Cardiac Arrest and Resuscitation
- Exercise and Physiological Responses
- Hereditary Neurological Disorders
- Chronic Obstructive Pulmonary Disease (COPD) Research
- Telomeres, Telomerase, and Senescence
- Tissue Engineering and Regenerative Medicine
- Mitochondrial Function and Pathology
- Genomics and Phylogenetic Studies
- Muscle activation and electromyography studies
- Respiratory Support and Mechanisms
- Mesenchymal stem cell research
- Cellular transport and secretion
- Nuclear Structure and Function
- Medical and Biological Ozone Research
- Heat shock proteins research
- Lung Cancer Treatments and Mutations
University of Alabama at Birmingham
2019-2025
Children's of Alabama
2020-2025
Baylor College of Medicine
2005-2024
Institute for Exercise and Environmental Medicine
2024
University of California, Irvine
2023
Civitan International
2022
University of Miami
2018-2021
John F. Kennedy Medical Center
2021
HudsonAlpha Institute for Biotechnology
2020
Pediatric Nephrology of Alabama
2019
Airway smooth muscle hypertrophy is one of the hallmarks airway remodeling in severe asthma. Several human diseases have been now associated with dysregulated microRNA (miRNA) expression. miRNAs are a class small non-coding RNAs, which negatively regulate gene expression at post-transcriptional level. Here, we identify miR-26a as hypertrophic miRNA cells (HASMCs). We show that stretch selectively induces transcription located locus 3p21.3 chromosome 3. The factor CCAAT enhancer-binding...
Variant detection from long-read genome sequencing (lrGS) has proven to be more accurate and comprehensive than variant short-read (srGS). However, the rate at which lrGS can increase molecular diagnostic yield for rare disease is not yet precisely characterized. We performed using Pacific Biosciences HiFi technology on 96 short-read-negative probands with diseases that were suspected genetic. generated hg38-aligned variants de novo phased assemblies, subsequently annotated, filtered,...
Mechanical loading of muscles by intrinsic muscle activity or passive stretch leads to an increase in the production reactive oxygen species. The NAD-dependent protein deacetylase SIRT1 is involved protection against oxidative stress enhancing FOXO-driven Sod2 transcription. In this report, we unravel a mechanism triggered mechanical skeletal cells that EGR1-dependent transcriptional activation Sirt1 gene. resulting transient expression generates antioxidative response contributes species scavenging.
The β-tropomyosin gene encodes a component of the sarcomeric thin filament. Rod-shaped dimers tropomyosin regulate actin-myosin interactions and mutations have been associated with nemaline myopathy, cap Escobar syndrome distal arthrogryposis types 1A 2B. In this study, we expand allelic spectrum β-tropomyosin-related myopathies through identification novel mutation in two clinical contexts not previously β-tropomyosin. first phenotype is core-rod uncovered by whole exome sequencing family...
Abstract Duchenne muscular dystrophy (DMD) patients suffer from skeletal and cardiopulmonary weakness, interestingly up to one third are diagnosed on the autism spectrum. Dystrophin is an essential protein for regulating transmission of intracellular force extracellular matrix within muscle, but also plays key roles in neurobehavior cognitive function. The mouse dystrophin gene (also abbreviated Dmd ) X-linked has several isoforms with tissue-specific expression, including large Dp427m...
miR-486 is a muscle-enriched microRNA, or “myomiR,” that has reduced expression correlated with Duchenne muscular dystrophy (DMD). To determine the function of in normal and dystrophin-deficient muscles elucidate target transcripts skeletal muscle, we characterized mir-486 knockout mice ( KO). KO developed disrupted myofiber architecture, decreased size, locomotor activity, increased cardiac fibrosis, metabolic defects were exacerbated KO: mdx 5cv (DKO) mice. identify direct vivo muscle...
Fever of unknown origin (FUO) in children is frequently caused by infectious diseases. Angiostrongylus cantonensis, while a primary cause eosinophilic meningitis, rarely FUO. We present 2 pediatric cases FUO cantonensis acquired Houston, Texas, outside its usual geographic distribution.
Background The diagnosis of uncommon pediatric neuromuscular disease (NMD) is challenging due to genetic and phenotypic heterogeneity, yet important guide treatment, prognosis, recurrence risk. Patients with diagnostically presentations typically undergo extensive testing variable molecular diagnostic yield. Given the advancement in next generation sequencing (NGS), we investigated value clinical whole exome (ES) NMD. Methods A retrospective cohort study 106 NMD patients a combination ES,...
Neuromuscular function in New Zealand White rabbits was evaluated after thigh tourniquet compression the directly compressed quadriceps muscles and distal tibialis anterior by measuring isometric contractile supramaximal stimulation of motor nerve. Tourniquet resulted markedly decreased force production beneath to tourniquet. Two days compression, maximal 46% control values with 125 mm Hg 21% 350 compression. Maximum declined 70% 24% Functional deficits were greater muscles, but had...
The mechanical regulation of the forkhead box O (FOXO) subclass transcription factors in respiratory pump and its implication aging are completely unknown. We investigated effects diaphragm stretch on three FOXO isoforms, Foxo1, Foxo3a, Foxo4, normal mice at different ages. tested hypotheses that 1) activities regulated response to 2) properties altered, leading altered with aging. Our results showed downregulated DNA-binding activity by a mechanism required Akt IKK activation young but...
Obesity is a common comorbidity of chronic obstructive pulmonary disease (COPD) and has been associated with worse outcomes. However, it unknown whether the interaction between obesity COPD modulates diaphragm shape consequently its function. The body mass index (BMI) used as correlate obesity. We tested hypothesis that muscle size ring insertion in non-COPD subjects are modulated by BMI. recruited 48 patients postbronchiodilator forced expiratory volume 1 s (FEV1)-to-forced vital capacity...
A complex rearrangement mutation in the mouse titin gene leads to an in-frame 83-amino acid deletion N2A region of titin. Autosomal recessive inheritance muscular dystrophy with myositis ( Ttn mdm/mdm ) a severe early-onset and premature death. We hypothesized that would negatively impact force-generating capacity passive mechanical properties mdm diaphragm. measured vitro active isometric contractile length-tension assess muscle function at 2 6 wk age. Micro-CT, myosin heavy chain Western...
Variant detection from long-read genome sequencing (lrGS) has proven to be considerably more accurate and comprehensive than variant short-read (srGS). However, the rate at which lrGS can increase molecular diagnostic yield for rare disease is not yet precisely characterized. We performed using Pacific Biosciences "HiFi" technology on 96 short-read-negative probands with that were suspected genetic. generated hg38-aligned variants de novo phased assemblies, subsequently annotated, filtered,...
The diaphragm muscles in vivo are subjected to mechanical forces both the direction of muscle fibers and transverse fibers. However, effect directional skeletal gene regulation is completely unknown. Here, we identified that stretch longitudinal directions up-regulated Ankrd2 expression by two distinct signaling pathways wild-type (WT) mdm, a mouse model muscular dystrophy with early-onset progressive muscle-wasting. Stretch activated NF-kappaB AP-1 transcription factors, whereas only...
Alpha7beta1 integrin is a transmembrane structural and receptor protein of skeletal muscles, the absence alpha7-integrin causes muscular dystrophy. We hypothesized that alters compliance viscoelasticity disrupts mechanical coupling between passive transverse axial contractile elements in diaphragm. In vivo diaphragm loaded with pressure, therefore length-tension relationships are important assessing its function. determined viscoelastic properties muscle 1-month-old alpha7-integrin-null mice...