Michael A. Lopez
YOU?
Author Swipe
View article: Conditional Dmd ablation in muscle and brain causes profound effects on muscle function and neurobehavior
Conditional Dmd ablation in muscle and brain causes profound effects on muscle function and neurobehavior Open
Duchenne muscular dystrophy (DMD) patients suffer from skeletal and cardiopulmonary weakness, and up to one third are diagnosed on the autism spectrum. Dystrophin is an essential protein for regulating intracellular force transmission to t…
MON-441 Thyroiditis After Botox Injection to the Neck: A Case of Thyrotoxicosis Triggered by Aesthetic Treatment Open
Disclosure: P. Roque: None. M. Lopez: None. T. Sanchez: None. M. Albano: None. P. Aquino: None. A. Lo: None. INTRO: Subacute thyroiditis resulting from locally injected Botox to the neck muscles is a rare complication from a seemingly stra…
Late‐Stage Skeletal Muscle Transcriptome in Duchenne Muscular Dystrophy Shows a BMP4‐Induced Molecular Signature Open
Background Duchenne muscular dystrophy (DMD) is a fatal X‐linked recessive disease due to loss‐of‐function variants in the DYSTROPHIN gene. DMD‐related skeletal muscle wasting is typified by an aberrant immune response involving upregulati…
View article: Conditional <i>Dystrophin</i> ablation causes profound effects on muscle development, neurobehavior, and extracellular matrix pathways
Conditional <i>Dystrophin</i> ablation causes profound effects on muscle development, neurobehavior, and extracellular matrix pathways Open
Dystrophin is an essential protein for regulating the transmission of intracellular force to the extracellular matrix within the skeletal muscle. The mammalian dystrophin gene ( Dmd ) is X-linked and has several isoforms with tissue-specif…
View article: Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders
Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders Open
Variant detection from long-read genome sequencing (lrGS) has proven to be more accurate and comprehensive than variant detection from short-read genome sequencing (srGS). However, the rate at which lrGS can increase molecular diagnostic y…
Late-Stage Skeletal Muscle Transcriptome in Duchenne muscular dystrophy shows a BMP4-Induced Molecular Signature Open
Duchenne muscular dystrophy (DMD) is a fatal X-linked recessive disease due to loss-of-function mutations in the DYSTROPHIN gene. DMD-related skeletal muscle wasting is typified by an aberrant immune response involving upregulation of TGFβ…
View article: Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders
Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders Open
Variant detection from long-read genome sequencing (lrGS) has proven to be considerably more accurate and comprehensive than variant detection from short-read genome sequencing (srGS). However, the rate at which lrGS can increase molecular…
View article: Smad8 Is Increased in Duchenne Muscular Dystrophy and Suppresses miR-1, miR-133a, and miR-133b
Smad8 Is Increased in Duchenne Muscular Dystrophy and Suppresses miR-1, miR-133a, and miR-133b Open
Duchenne muscular dystrophy (DMD) is an X-linked recessive disease characterized by skeletal muscle instability, progressive muscle wasting, and fibrosis. A major driver of DMD pathology stems from aberrant upregulation of transforming gro…
Pediatric Nemaline Myopathy: A Systematic Review Using Individual Patient Data Open
Nemaline myopathy is a skeletal muscle disease that affects 1 in 50 000 live births. The objective of this study was to develop a narrative synthesis of the findings of a systematic review of the latest case descriptions of patients with N…
View article: DOCKopathies: A systematic review of the clinical pathologies associated with human <i>DOCK</i> pathogenic variants
DOCKopathies: A systematic review of the clinical pathologies associated with human <i>DOCK</i> pathogenic variants Open
The Dedicator of Cytokinesis (DOCK) family (DOCK1-11) of genes are essential mediators of cellular migration, growth, and fusion in a variety of cell types and tissues. Recent advances in whole-genome sequencing of patients with undiagnose…
View article: miR-486 is essential for muscle function and suppresses a dystrophic transcriptome
miR-486 is essential for muscle function and suppresses a dystrophic transcriptome Open
miR-486 is a muscle-enriched microRNA, or “myomiR,” that has reduced expression correlated with Duchenne muscular dystrophy (DMD). To determine the function of miR-486 in normal and dystrophin-deficient muscles and elucidate miR-486 target…
Pediatric Nemaline Myopathy: A systematic review using individual patient data Open
Context Nemaline myopathy (NM) is a skeletal muscle disease that affects 1 in 50,000 live births. Objective Develop a narrative synthesis of the findings of a systematic review of the latest case descriptions of patients with nemaline myop…
View article: miR-486 is an epigenetic modulator of Duchenne muscular dystrophy pathologies
miR-486 is an epigenetic modulator of Duchenne muscular dystrophy pathologies Open
Duchenne muscular dystrophy (DMD) is an X-linked progressive muscle disorder resulting in muscle weakness and cardiomyopathy. MicroRNAs have been shown to play essential roles in muscle development, metabolism, and disease pathologies. We …
Mechanics of dystrophin deficient skeletal muscles in very young mice and effects of age Open
The MDX mouse is an animal model of Duchenne muscular dystrophy, a human disease marked by an absence of the cytoskeletal protein, dystrophin. We hypothesized that 1) dystrophin serves a complex mechanical role in skeletal muscles by contr…
Robotic Resection of Pulmonary Epithelial Myoepithelial Carcinoma: A Case Report Open
Background Pulmonary epithelial–myoepithelial carcinoma (P-EMC) is an extremely rare, well-differentiated, and malignant neoplasm originating from submucosal bronchial glands in the lung. EMCs arise mainly in the salivary glands. Case Desc…
DOCK3 is a dosage-sensitive regulator of skeletal muscle and Duchenne muscular dystrophy-associated pathologies Open
DOCK3 is a member of the DOCK family of guanine nucleotide exchange factors that regulate cell migration, fusion and viability. Previously, we identified a dysregulated miR-486/DOCK3 signaling cascade in dystrophin-deficient muscle, which …
<i>Fibulin-5</i> mutation featuring Charcot-Marie-Tooth disease, joint hyperlaxity, and scoliosis Open
Fibulin-5 (FBLN5) is an extracellular matrix glycoprotein expressed in elastic fiber-rich tissues.1 Mutations affecting the first epidermal growth factor domain feature a spinal Charcot-Marie-Tooth (CMT) phenotype, whereas the C-terminus c…
Pneumomediastinum Secondary to Acute Emphysematous Pyelonephritis Open
Pneumomediastinum is a clinical and radiographic finding that is associated with a wide range of acute processes that allow gas to disseminate through the tissues of mediastinum that often necessitates prompt consideration for thoracic int…
“DOCK3 is a dosage-sensitive regulator of skeletal muscle and Duchenne muscular dystrophy-associated pathologies” Open
DOCK3 is a member of the DOCK family of guanine nucleotide exchange factors that function to regulate cell migration, fusion, and overall viability. Previously, we identified a miR-486/Dock3 signaling cascade that was dysregulated in dystr…
Obesity modulates diaphragm curvature in subjects with and without COPD Open
Obesity is a common comorbidity of chronic obstructive pulmonary disease (COPD) and has been associated with worse outcomes. However, it is unknown whether the interaction between obesity and COPD modulates diaphragm shape and consequently…
View article: <i>Angiostrongylus cantonensis</i>Infection: A Cause of Fever of Unknown Origin in Pediatric Patients
<i>Angiostrongylus cantonensis</i>Infection: A Cause of Fever of Unknown Origin in Pediatric Patients Open
Fever of unknown origin (FUO) in children is frequently caused by infectious diseases. Angiostrongylus cantonensis, while a primary cause of eosinophilic meningitis, is rarely a cause of FUO. We present 2 pediatric cases of FUO caused by A…