A5016249773- Skin and Cellular Biology Research
- Wnt/β-catenin signaling in development and cancer
- Systemic Sclerosis and Related Diseases
- Fibroblast Growth Factor Research
- Cystic Fibrosis Research Advances
- Congenital Ear and Nasal Anomalies
- Nerve injury and regeneration
- Muscle Physiology and Disorders
- Cardiomyopathy and Myosin Studies
- Energy Harvesting in Wireless Networks
- Nuclear Structure and Function
- Oral Health Pathology and Treatment
- Ubiquitin and proteasome pathways
Case Western Reserve University
2018-2022
Istituto Giannina Gaslini
1992
X-linked dystrophinopathy is the most common cause of isolated cases myopathy in males. To investigate dystrophin abnormalities as a girls and women, we used immunocytochemistry to study muscle biopsies from 505 women with neuromuscular disease. Forty-six showed combination fibers containing or lacking dystrophin; this mosaic immunostaining pattern denoted carrier status. Twenty-one 46 (45.6%) had family history Duchenne muscular dystrophy Twenty-five (54.3%) were cases, no previous...
Nonsense mutations are present in 10% of patients with CF, produce a premature termination codon CFTR mRNA causing early translation, and lead to lack function. There no currently available animal models which contain nonsense mutation the endogenous Cftr locus that can be utilized test therapies. In this study, we create CF mouse model carrying G542X using CRISPR/Cas9 gene editing. The has reduced levels, demonstrates absence function, displays characteristic manifestations mice such as...
Tissue fibrosis in many organs results from altered and excessive extracellular matrix (ECM) protein deposition 1 . Concomitant with ECM expansion, resident lipid-filled cells including mature adipocytes are lost human mouse 2-5 , yet the mechanisms that drive adipocyte lipid loss their contribution to tissue unknown. Here, we identify an early, fibro-protective role of lipolysis driven by Wnt signaling during onset. Using chemical genetic models skin fibrosis, show fibrotic stimuli induce...