A5041774460- Muscle Physiology and Disorders
- T-cell and B-cell Immunology
- Pluripotent Stem Cells Research
- Hematopoietic Stem Cell Transplantation
- Virus-based gene therapy research
- Blood groups and transfusion
- Tissue Engineering and Regenerative Medicine
- Immune Cell Function and Interaction
- CRISPR and Genetic Engineering
- Hepatitis B Virus Studies
- Immunodeficiency and Autoimmune Disorders
- Platelet Disorders and Treatments
- Immunotherapy and Immune Responses
- vaccines and immunoinformatics approaches
- Genetic Neurodegenerative Diseases
- Hepatitis C virus research
- Systemic Lupus Erythematosus Research
- Congenital heart defects research
- Hepatitis Viruses Studies and Epidemiology
- Cytomegalovirus and herpesvirus research
- Monoclonal and Polyclonal Antibodies Research
- Muscle activation and electromyography studies
- Viral Infections and Immunology Research
- Cardiac Fibrosis and Remodeling
- Cardiomyopathy and Myosin Studies
National Marrow Donor Program
2012-2023
Solidus Biosciences (United States)
2016-2023
University of Freiburg
2021
Harvard University
2020
University of Luxembourg
2018
Rutgers, The State University of New Jersey
2009-2015
Rutgers Health
2014-2015
Rutgers New Jersey Medical School
2009-2013
University of Münster
2006
Medizinische Hochschule Hannover
1996
Duchenne muscular dystrophy (DMD) is a progressive muscle wasting disease caused by the absence of dystrophin, membrane-stabilizing protein encoded DMD gene. Although mouse models provide insight into potential corrective therapy, data from genetically homologous large animals, such as dystrophin-deficient golden retriever (GRMD) model, may more readily translate to humans. To evaluate clinical translatability an adeno-associated virus serotype 9 vector (AAV9)–microdystrophin (μDys5)...
Insulin-like growth factor (IGF)-I and IGF-II regulate brain development through the IGF type 1 receptor (IGF-1R). Less appreciated is that IGF-II, but not IGF-I, activates a splice variant of insulin (IR) known as IR-A. We hypothesized exerts distinct effects from IGF-I on neural stem/progenitor cells (NSPs) via its interaction with Immunofluorescence revealed high in medial region subventricular zone (SVZ) comprising stem cell niche, mRNA predominant adjacent choroid plexus. The IGF-1R IR...
Abstract Motivation For over 10 years allele-level HLA matching for bone marrow registries has been performed in a probabilistic context. typing technologies provide ambiguous results that they could not distinguish among all known alleles equences; therefore have implemented algorithms lists of donor and cord blood units ordered terms the likelihood at specific loci. With growth registry sizes, current match algorithm implementations are unable to real time. Results We present here novel...
DMD (Duchenne muscular dystrophy) is an incurable rapidly worsening neuromuscular degenerative disease caused by the absence of dystrophin. In skeletal muscle a lack dystrophin disrupts recruitment neuronal NOS (nitric oxide synthase) to sarcolemma thus affecting NO oxide) production. Utrophin homologue, expression which greatly up-regulated in dystrophin-negative fibres from mdx mice, mouse model DMD. Although cardiomyopathy important cause death, little known about signalling pathway...
We present an electronic format for exchanging data HLA and KIR genotyping with extensions next-generation sequencing (NGS). This addresses NGS exchange by refining the Histoimmunogenetics Markup Language (HML) to conform proposed Minimum Information Reporting Immunogenomic Genotyping (MIRING) reporting guidelines (miring.immunogenomics.org). Our refinements of HML include two major additions. First, is supported new XML structures capture additional metadata required produce a result,...
Abstract The accuracy of human leukocyte antigen ( HLA )‐matching algorithms is a prerequisite for the correct and efficient identification optimal unrelated donors patients requiring hematopoietic stem cell transplantation. goal this World Marrow Donor Association study was to validate established matching from different international donor registries by challenging them with simulated input data subsequently comparing output. This experiment addressed three specific aspects using sets...
Duchenne muscular dystrophy (DMD) is an incurable neuromuscular degenerative disease, caused by a mutation in the dystrophin gene. Mdx mice recapitulate DMD features. Here we show that injection of wild-type (WT) embryonic stem cells (ESCs) into mdx blastocysts produces with improved pathology and function. A small fraction WT ESCs incorporates mouse nonuniformly to upregulate protein levels skeletal muscle. The chimeric muscle shows reduced regeneration restores dystrobrevin,...
ABSTRACT Duchenne muscular dystrophy (DMD) is a life-threatening neuromuscular disease caused by the lack of dystrophin, resulting in progressive muscle wasting and locomotor dysfunctions. By adulthood, almost all patients also develop cardiomyopathy, which primary cause death DMD. Although there has been extensive effort creating animal models to study treatment strategies for DMD, most fail recapitulate complete skeletal cardiac manifestations that are presented affected patients. Here, we...
Allogeneic Hematopoietic Cell Transplantation (HCT) is a curative therapy for hematologic disorders and often requires human leukocyte antigen (HLA)-matched donors. Donor registries have recruited donors utilizing evolving technologies of HLA genotyping methods. This necessitates in-silico ambiguity resolution statistical imputation based on haplotype frequencies estimated from donor data stratified by self-identified race ethnicity (SIRE). However, SIRE has limited genetic validity presents...
Duchenne muscular dystrophy (DMD) is an X-linked muscle-wasting disease caused by mutations in the dystrophin gene. DMD boys are wheelchair-bound around 12 years and generally survive into their twenties. There currently no effective treatment except palliative care, although personalized treatments such as exon skipping, stop codon read-through, viral-based gene therapies making progress. Patients present with skeletal muscle pathology, but most also show cardiomyopathy age of 10. A...
In both human chronic lymphocytic leukemia (CLL) and the New Zealand Black (NZB) murine model of CLL, decreased levels microRNAs miR-15a/16 play an important role in disease. Here we investigate effects this microRNA on early steps B cell development capacity miR-15a-deficient hematopoietic stem cells (HSC) B1 progenitor (B1P) to reproduce CLL-like phenotype vitro vivo. Our results demonstrate that miR-15a deficient HSC B1P are capable repopulating irradiated recipients produce higher...
Vector production scale-up is a major barrier in systemic adeno-associated virus (AAV) gene therapy. Many scalable manufacturing methods have been developed. However, the potency of vectors generated by these has rarely compared with made transient transfection (TT), most commonly used method preclinical studies. In this study, we blindly therapeutic efficacy an AAV9 micro-dystrophin vector TT and herpes simplex (HSV) system Duchenne muscular dystrophy mouse model. AAV was injected...
According to the endosymbiotic hypothesis, precursor of mitochondria invaded eukaryotic cells, a process that began roughly 2 billion years ago. Since then, majority genetic material translocated from nucleus, where now almost all mitochondrial proteins are expressed. Only tiny amount DNA remained in mitochondria, known as (mtDNA). In this study, we report transfer mtDNA fragments nucleus pluripotent stem cells is still ongoing. We show by situ hybridization and agarose two-dimensional gel...
Abstract Satellite cells are the canonical muscle stem that regenerate damaged skeletal muscle. Loss of function these has been linked to reduced repair capacity and compromised health in acute injury congenital neuromuscular diseases. To identify new pathways can prevent loss or enhance regenerative potential, we established an imaging-based screen capable identifying small molecules promote expansion freshly isolated satellite cells. We found several classes receptor tyrosine kinase (RTK)...