Search Results - "Hyatt, Elzbieta"
-
1
A mutation-independent approach for muscular dystrophy via upregulation of a modifier gene
Published in Nature (London) (01-08-2019)“…Neuromuscular disorders are often caused by heterogeneous mutations in large, structurally complex genes. Targeting compensatory modifier genes could be…”
Get full text
Journal Article -
2
Correction of a splicing defect in a mouse model of congenital muscular dystrophy type 1A using a homology-directed-repair-independent mechanism
Published in Nature medicine (01-08-2017)“…An HDR-independent therapeutic genome-editing approach corrected the splice-site mutation in Lama2 in a mouse model of congenital muscular dystrophy type 1A,…”
Get full text
Journal Article -
3
Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders
Published in American journal of human genetics (07-01-2016)“…Clustered regularly interspaced short palindromic repeat (CRISPR) has arisen as a frontrunner for efficient genome engineering. However, the potentially broad…”
Get full text
Journal Article -
4
Targeted genome editing in vivo corrects a Dmd duplication restoring wild‐type dystrophin expression
Published in EMBO molecular medicine (07-05-2021)“…Tandem duplication mutations are increasingly found to be the direct cause of many rare heritable diseases, accounting for up to 10% of cases. Unfortunately,…”
Get full text
Journal Article -
5
A novel mouse model of Duchenne muscular dystrophy carrying a multi-exonic Dmd deletion exhibits progressive muscular dystrophy and early-onset cardiomyopathy
Published in Disease models & mechanisms (01-09-2020)“…Duchenne muscular dystrophy (DMD) is a life-threatening neuromuscular disease caused by the lack of dystrophin, resulting in progressive muscle wasting and…”
Get full text
Journal Article -
6
Cell surface profiling using high-throughput flow cytometry: a platform for biomarker discovery and analysis of cellular heterogeneity
Published in PloS one (29-08-2014)“…Cell surface proteins have a wide range of biological functions, and are often used as lineage-specific markers. Antibodies that recognize cell surface…”
Get full text
Journal Article -
7
Improved Electrospray Ionization Efficiency Compensates for Diminished Chromatographic Resolution and Enables Proteomics Analysis of Tyrosine Signaling in Embryonic Stem Cells
Published in Analytical chemistry (Washington) (01-05-2009)“…Characterization of signaling pathways in embryonic stem cells is a prerequisite for future application of these cells to treat human disease and other…”
Get full text
Journal Article -
8
Prevention of early-onset cardiomyopathy in Dmd exon 52–54 deletion mice by CRISPR-Cas9-mediated exon skipping
Published in Molecular therapy. Methods & clinical development (14-09-2023)“…Duchenne muscular dystrophy (DMD) is a disease with a life-threatening trajectory resulting from mutations in the dystrophin gene, leading to degeneration of…”
Get full text
Journal Article -
9
Patient-Derived Xenografts for Prognostication and Personalized Treatment for Head and Neck Squamous Cell Carcinoma
Published in Cell reports (Cambridge) (01-10-2018)Get full text
Journal Article -
10
Patient-Derived Xenografts for Prognostication and Personalized Treatment for Head and Neck Squamous Cell Carcinoma
Published in Cell reports (Cambridge) (30-10-2018)“…Overall survival remains very poor for patients diagnosed as having head and neck squamous cell carcinoma (HNSCC). Identification of additional biomarkers and…”
Get full text
Journal Article -
11
Generation and characterization of a novel mouse model of Becker Muscular Dystrophy with a deletion of exons 52 to 55
Published in Disease models & mechanisms (05-08-2024)“…Becker Muscular Dystrophy (BMD) is a rare X-linked recessive neuromuscular disorder frequently caused by in-frame deletions in the DMD gene that result in the…”
Get full text
Journal Article -
12
Abstract B47: Characterization of carcinoma-associated fibroblasts from head and neck squamous cell carcinoma
Published in Cancer research (Chicago, Ill.) (01-10-2013)“…Head and neck squamous cell carcinoma (HNSCC) is the sixth most common cancer worldwide, with over 350,000 deaths annually. Metastasis remains a major cause of…”
Get full text
Journal Article -
13
Abstract B12: The role of stromal cells in supporting tumor-initiating cells in serous ovarian carcinoma
Published in Cancer research (Chicago, Ill.) (01-02-2013)“…High grade serous ovarian carcinoma has been shown to be a highly heterogeneous disease. In vivo studies demonstrate that the tumor initiating frequency (TIF)…”
Get full text
Journal Article -
14
Cancer stem cells are underestimated by standard experimental methods in clear cell renal cell carcinoma
Published in Scientific reports (28-04-2016)“…Rare cancer stem cells (CSC) are proposed to be responsible for tumour propagation and re-initiation and are functionally defined by identifying…”
Get full text
Journal Article -
15
559. Spell Checking Nature: A Therapeutic Use of the CRISPR/Cas9 System in Duchenne Muscular Dystrophy
Published in Molecular therapy (01-05-2015)Get full text
Journal Article -
16
The K/BxN mouse model of inflammatory arthritis: theory and practice
Published in Methods in molecular medicine (2007)“…Mice expressing the KRN T cell receptor transgene and the MHC class II molecule A(g7) (K/BxN mice) develop severe inflammatory arthritis, and serum from these…”
Get more information
Journal Article -
17
Cancer stem cells in head and neck squamous cell carcinoma
Published in BMC proceedings (04-04-2013)“…Doc number: P14…”
Get full text
Journal Article -
18
Paradoxical Dampening of Anti-Islet Self-Reactivity but Promotion of Diabetes by OX40 Ligand
Published in The Journal of immunology (1950) (15-12-2003)“…Costimulatory signals received by diabetogenic T cells during priming by or upon secondary encounter with autoantigen are decisive in determining the outcome…”
Get full text
Journal Article