A5001415117- Neurogenetic and Muscular Disorders Research
- Muscle Physiology and Disorders
- Congenital Anomalies and Fetal Surgery
- Cardiomyopathy and Myosin Studies
- Genetic Neurodegenerative Diseases
- TGF-β signaling in diseases
- Genomics and Rare Diseases
- Cancer-related gene regulation
- Telomeres, Telomerase, and Senescence
- Genetics and Neurodevelopmental Disorders
- Epilepsy research and treatment
- Mitochondrial Function and Pathology
- Signaling Pathways in Disease
- RNA modifications and cancer
- Energy Harvesting in Wireless Networks
- Neonatal Respiratory Health Research
- RNA Research and Splicing
- DNA Repair Mechanisms
- Transcranial Magnetic Stimulation Studies
- RNA and protein synthesis mechanisms
- Mechanical Circulatory Support Devices
- Kruppel-like factors research
- CRISPR and Genetic Engineering
- Cancer-related molecular mechanisms research
- Cancer Genomics and Diagnostics
Arkansas Children's Hospital
2024
University of Arkansas for Medical Sciences
2024
Cure Spinal Muscular Atrophy
2024
Children's Hospital Colorado
2017-2024
University of Colorado Denver
2014-2024
University of Colorado Anschutz Medical Campus
2019-2023
Gillette Children's Specialty Healthcare
2019
University of Chicago
2009-2010
Spinal muscular atrophy (SMA) is an autosomal recessive progressive neurodegenerative primary motor neuron disorder caused by biallelic variants of the survival 1 (
Abstract GEMIN5, an RNA-binding protein is essential for assembly of the survival motor neuron (SMN) complex and facilitates formation small nuclear ribonucleoproteins (snRNPs), building blocks spliceosomes. Here, we have identified 30 affected individuals from 22 unrelated families presenting with developmental delay, hypotonia, cerebellar ataxia harboring biallelic variants in GEMIN5 gene. Mutations perturb subcellular distribution, stability, expression its interacting partners patient...
In this article, we outline a comprehensive plan for the psychosocial management of patients with Duchenne muscular dystrophy (DMD) across life span. 2010, Centers Disease Control and Prevention sponsored development multidisciplinary guidance DMD, in 2018, that was updated. intervening years, new emphasis placed on studying addressing issues affect driven part by improved patient survival. Once viewed as ancillary to managing significant medical needs it is now standard practice integrate...
Mutations in TPM3, encoding Tpm3.12, cause a clinically and histopathologically diverse group of myopathies characterized by muscle weakness. We report two patients with novel de novo Tpm3.12 single glutamic acid deletions at positions ΔE218 ΔE224, resulting significant hypercontractile phenotype congenital stiffness, rather than weakness, respiratory failure one patient.The effect the on contractile properties dissected patient myofibers was measured. used quantitative vitro motility assay...
The Arf tumor suppressor (also known as Cdkn2a) acts an oncogene sensor induced by ;abnormal' mitogenic signals in incipient cancer cells. It also plays a crucial role embryonic development: newborn mice lacking are blind due to pathological process resembling severe persistent hyperplastic primary vitreous (PHPV), human eye disease. cell-intrinsic mechanism implied the model seems unlikely explain regulation during embryo development. Instead, transforming growth factor beta2 (Tgfbeta2)...
We have investigated how the Arf gene product, p19Arf, is activated by Tgfβ during mouse embryo development to better understand this important tumor suppressor controlled. Taking advantage of new models, we provide genetic evidence that lies downstream signaling in cells arising from Wnt1-expressing neural crest and anti-proliferative effects depend on vivo. Tgfβ1, -2, -3 (but not BMP-2, another member superfamily) induce p19Arf expression wild type fibroblasts (MEFs), they enhance promoter...
To characterize the clinical phenotype, genetic origin, and muscle pathology of patients with FKRP c.1387A>G mutation.Standardized data were collected for all known to authors mutations in FKRP. Muscle biopsies reviewed used histopathology, immunostaining, Western blotting, DNA extraction. Genetic analysis was performed on extracted DNA.We report phenotypes 6 homozygous mutation Onset symptoms <2 years, 5 never learned walk. Brain MRIs normal. Cognition normal mildly impaired. Microarray...
In the United States and around world, newborns are screened on a population basis for conditions benefiting from pre-symptomatic diagnosis treatment. The number of continues to expand as novel technologies screening, diagnosing, treating, managing disease discovered. While screening all facilitates early treatment, most treatable but not curable. Patients identified by newborn often require lifelong medical management community support achieve best possible outcome. To advance long-term...
Abstract Introduction/Aims While prompt identification and treatment of infants with spinal muscular atrophy (SMA) can ameliorate outcomes, variability persists. This study assessed management outcomes early‐treated SMA. Methods We analyzed retrospective data at 12 centers on SMA treated age ≤6 weeks from August 2018 to December 2023. Results Sixty‐six patients, 35 two SMN2 copies 31 ≥3 copies, were included. Twenty‐five (38%, 22 copies), had findings before initial which was onasemnogene...
Purpose: Next-generation sequencing panels are particularly useful in identifying genetic diagnoses patients with nonspecific clinical findings by allowing for analysis of many genes at once. The purpose this study was to develop a simple, objective system evaluate the quality available next-generation panels. Methods: A list potentially important features generated from literature evaluated accessibility and objectivity distilled “core” set features. This then applied setting using example...