The Muscle Tissue/Cell Culture/Diagnostics Core for this Wellstone Muscular Dystrophy Cooperative Research Center is a multifaceted laboratory that serves as a local and a national resource for muscular dystrophy research. There are two major goals of the Core. First, the Core will maintain and continue to grow the Repository of skeletal muscle biopsies and cell cultures established during the first five years of funding. Among the existing muscle biopsies are more than 1000 muscular dystrophy samples that include dystrophinopathies (Duchenne and Becker muscular dystrophy), limb-girdle muscular dystrophies, and congenital muscular dystrophies. More than 125 patients (primarily muscular dystrophy patients) have undergone skin biopsies to establish fibroblast cultures in the Repository. We will accrue new specimens into the Repository from a variety of sources: diagnostic muscle biopsies, therapeutic surgical procedures, endomyocardial biopsies, heart explants, skin biopsies, and autopsies. Patients with genetically defined muscular dystrophies are recruited to undergo biopsies in order to maintain a widely representative spectrum of muscular dystrophy diagnoses. Well-characterized tissues and cells from the Core are made available to research investigators at lowa and other academic centers. The second goal of the Core is to provide specialty diagnostic resources unavailable in clinical laboratories. This includes western blots from skeletal muscle as well as on-cell westerns and nuclear morphology assays in cultured cells. The Core facilitates development of new diagnostic tests for transfer to the clinical laboratory, and serves as a post-intervention biopsy evaluation resource for investigators conducting clinical trials. Thus, the Muscle Tissue/Cell Culture/Diagnostics Core maintains a vital resource of muscular dystrophy tissues and cell cultures, provides a critical diagnostic link in expanding the number of patients with specific, molecular diagnoses, and serves as a national biopsy testing resource for clinical trials in muscular dystrophy patients.
The Muscle Tissue/Cell Culture/Diagnostics Core assists in making accurate diagnoses for muscular dystrophy patients. With this information, physicians are better able to provide genetic counseling, prognostic information, and treatment options for their patients. Tissue and cell culture resources from the Core support basic and clinical research that will lead to improved therapeutic interventions for this group of rare genetic diseases
| Lee, Angela J; Buckingham, Edward T; Kauer, Aaron J et al. (2018) Descriptive Phenotype of Obsessive Compulsive Symptoms in Males With Duchenne Muscular Dystrophy. J Child Neurol 33:572-579 |
| González Coraspe, José Andrés; Weis, Joachim; Anderson, Mary E et al. (2018) Biochemical and pathological changes result from mutated Caveolin-3 in muscle. Skelet Muscle 8:28 |
| Martinez-Thompson, Jennifer M; Niu, Zhiyv; Tracy, Jennifer A et al. (2018) Autosomal dominant calpainopathy due to heterozygous CAPN3 C.643_663del21. Muscle Nerve 57:679-683 |
| Brun, Brianna N; Willer, Tobias; Darbro, Benjamin W et al. (2018) Uniparental disomy unveils a novel recessive mutation in POMT2. Neuromuscul Disord 28:592-596 |
| Larson, Austin A; Baker 2nd, Peter R; Milev, Miroslav P et al. (2018) TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of ?-dystroglycan and muscular dystrophy. Skelet Muscle 8:17 |
| Carlson, Courtney R; Moore, Steven A; Mathews, Katherine D (2018) Dystrophinopathy muscle biopsies in the genetic testing ERA: One center's data. Muscle Nerve : |
| Clements, Reena; Turk, Rolf; Campbell, Kevin P et al. (2017) Dystroglycan Maintains Inner Limiting Membrane Integrity to Coordinate Retinal Development. J Neurosci 37:8559-8574 |
| Cox, Melissa L; Evans, Jacquelyn M; Davis, Alexander G et al. (2017) Exome sequencing reveals independent SGCD deletions causing limb girdle muscular dystrophy in Boston terriers. Skelet Muscle 7:15 |
| Brun, Brianna N; Mockler, Shelley R H; Laubscher, Katie M et al. (2017) Comparison of brain MRI findings with language and motor function in the dystroglycanopathies. Neurology 88:623-629 |
| Carlson, Courtney R; McGaughey, Steven D; Eskuri, Jamie M et al. (2017) Illness-associated muscle weakness in dystroglycanopathies. Neurology 89:2374-2380 |
Showing the most recent 10 out of 97 publications
