相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Precision genome editing using cytosine and adenine base editors in mammalian cells
Tony P. Huang et al.
NATURE PROTOCOLS (2021)
Correction of recessive dystrophic epidermolysis bullosa by homology-directed repair-mediated genome editing
Jose Bonafont et al.
MOLECULAR THERAPY (2021)
Simultaneous high-efficiency base editing and reprogramming of patient fibroblasts
Sami Jalil et al.
STEM CELL REPORTS (2021)
Transcriptome analysis of collagen VI-related muscular dystrophy muscle biopsies
Eleonora Guadagnin et al.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2021)
In vivo somatic cell base editing and prime editing
Gregory A. Newby et al.
MOLECULAR THERAPY (2021)
Therapeutic Potential of EWSR1-FLI1 Inactivation by CRISPR/Cas9 in Ewing Sarcoma
Saint T. Cervera et al.
CANCERS (2021)
Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related Dystrophies
Daniel Natera-de Benito et al.
NEUROLOGY (2021)
Super resolution measurement of collagen fibers in biological samples: Validation of a commercial solution for multiphoton microscopy
Aaron M. Barlow et al.
PLOS ONE (2020)
Correction of muscular dystrophies by CRISPR gene editing
Francesco Chemello et al.
JOURNAL OF CLINICAL INVESTIGATION (2020)
Directed evolution of adenine base editors with increased activity and therapeutic application
Nicole M. Gaudelli et al.
NATURE BIOTECHNOLOGY (2020)
Lower Extremity Muscle Involvement in the Intermediate and Bethlem Myopathy Forms of COL6-Related Dystrophy and Duchenne Muscular Dystrophy: A Cross-Sectional Study
Abhinandan Batra et al.
JOURNAL OF NEUROMUSCULAR DISEASES (2020)
Highly Efficient and Marker-free Genome Editing of Human Pluripotent Stem Cells by CRISPR-Cas9 RNP and AAV6 Donor-Mediated Homologous Recombination
Renata M. Martin et al.
CELL STEM CELL (2019)
Search-and-replace genome editing without double-strand breaks or donor DNA
Andrew V. Anzalone et al.
NATURE (2019)
Human genome-edited hematopoietic stem cells phenotypically correct Mucopolysaccharidosis type I
Natalia Gomez-Ospina et al.
NATURE COMMUNICATIONS (2019)
A Convolutional Neural Network for the automatic diagnosis of collagen VI-related muscular dystrophies
Adrian Bazaga et al.
APPLIED SOFT COMPUTING (2019)
A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies
Veronique Bolduc et al.
JCI INSIGHT (2019)
Collagen VI disorders: Insights on form and function in the extracellular matrix and beyond
Shireen R. Lamande et al.
MATRIX BIOLOGY (2018)
Cas9-nickase-mediated genome editing corrects hereditary tyrosinemia in rats
Yanjiao Shao et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2018)
Extracellular matrix-driven congenital muscular dystrophies
Payam Mohassel et al.
MATRIX BIOLOGY (2018)
The CRISPR tool kit for genome editing and beyond
Mazhar Adli
NATURE COMMUNICATIONS (2018)
Ex Vivo COL7A1 Correction for Recessive Dystrophic Epidermolysis Bullosa Using CRISPR/Cas9 and Homology-Directed Repair
Araksya Izmiryan et al.
MOLECULAR THERAPY-NUCLEIC ACIDS (2018)
CRISPR therapy shows promise in Duchenne muscular dystrophy
Heather Wood
NATURE REVIEWS NEUROLOGY (2018)
Simplified CRISPR tools for efficient genome editing and streamlined protocols for their delivery into mammalian cells and mouse zygotes
Ashley M. Jacobi et al.
METHODS (2017)
COL7A1 Editing via CRISPR/Cas9 in Recessive Dystrophic Epidermolysis Bullosa
Stefan Hainzl et al.
MOLECULAR THERAPY (2017)
Programmable base editing of A.T to G.C in genomic DNA without DNA cleavage
Nicole M. Gaudelli et al.
NATURE (2017)
Gapmer Antisense Oligonucleotides Suppress the Mutant Allele of COL6A3 and Restore Functional Protein in Ullrich Muscular Dystrophy
Elena Marrosu et al.
MOLECULAR THERAPY-NUCLEIC ACIDS (2017)
Nanoparticle delivery of Cas9 ribonucleoprotein and donor DNA in vivo induces homology-directed DNA repair
Kunwoo Lee et al.
NATURE BIOMEDICAL ENGINEERING (2017)
Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders
Dania Wojtal et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2016)
CRISPR/Cas9-mediated somatic correction of a novel coagulator factor IX gene mutation ameliorates hemophilia in mouse
Yuting Guan et al.
EMBO MOLECULAR MEDICINE (2016)
Meganuclease-Mediated COL7A1 Gene Correction for Recessive Dystrophic Epidermolysis Bullosa
Araksya Izmiryan et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2016)
CRISPR/Cas9 β-globin gene targeting in human haematopoietic stem cells
Daniel P. Dever et al.
NATURE (2016)
Therapeutic genome editing by combined viral and non-viral delivery of CRISPR system components in vivo
Hao Yin et al.
NATURE BIOTECHNOLOGY (2016)
Breaking-Cas-interactive design of guide RNAs for CRISPR-Cas experiments for ENSEMBL genomes
Juan C. Oliveros et al.
NUCLEIC ACIDS RESEARCH (2016)
On the Origin of CRISPR-Cas Technology: From Prokaryotes to Mammals
Francisco J. M. Mojica et al.
TRENDS IN MICROBIOLOGY (2016)
Systematic quantification of HDR and NHEJ reveals effects of locus, nuclease, and cell type on genome-editing
Yuichiro Miyaoka et al.
SCIENTIFIC REPORTS (2016)
Off-target mutations are rare in Cas9-modified mice
Vivek Iyer et al.
NATURE METHODS (2015)
Prevalence of congenital muscular dystrophy in Italy A population study
Alessandra Graziano et al.
NEUROLOGY (2015)
Functional validation of mouse tyrosinase non-coding regulatory DNA elements by CRISPR-Cas9-mediated mutagenesis
Davide Seruggia et al.
NUCLEIC ACIDS RESEARCH (2015)
Transcriptome Analysis of Ullrich Congenital Muscular Dystrophy Fibroblasts Reveals a Disease Extracellular Matrix Signature and Key Molecular Regulators
Sonia Paco et al.
PLOS ONE (2015)
Genome editing with Cas9 in adult mice corrects a disease mutation and phenotype
Hao Yin et al.
NATURE BIOTECHNOLOGY (2014)
Allele-specific Gene Silencing of Mutant mRNA Restores Cellular Function in Ullrich Congenital Muscular Dystrophy Fibroblasts
Satoru Noguchi et al.
MOLECULAR THERAPY-NUCLEIC ACIDS (2014)
siRNA-mediated Allele-specific Silencing of a COL6A3 Mutation in a Cellular Model of Dominant Ullrich Muscular Dystrophy
Veronique Bolduc et al.
MOLECULAR THERAPY-NUCLEIC ACIDS (2014)
Position of Glycine Substitutions in the Triple Helix of COL6A1, COL6A2, and COL6A3 is Correlated with Severity and Mode of Inheritance in Collagen VI Myopathies
Russell J. Butterfield et al.
HUMAN MUTATION (2013)
Gene Expression Profiling Identifies Molecular Pathways Associated with Collagen VI Deficiency and Provides Novel Therapeutic Targets
Sonia Paco et al.
PLOS ONE (2013)
RNA-Guided Human Genome Engineering via Cas9
Prashant Mali et al.
SCIENCE (2013)
Antisense-Induced Messenger Depletion Corrects a COL6A2 Dominant Mutation in Ullrich Myopathy
Francesca Gualandi et al.
HUMAN GENE THERAPY (2012)
A Programmable Dual-RNA-Guided DNA Endonuclease in Adaptive Bacterial Immunity
Martin Jinek et al.
SCIENCE (2012)
Large Genomic Deletions: A Novel Cause of Ullrich Congenital Muscular Dystrophy
A. Reghan Foley et al.
ANNALS OF NEUROLOGY (2011)
The collagen VI-related myopathies: muscle meets its matrix
Carsten G. Bonnemann
NATURE REVIEWS NEUROLOGY (2011)
A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations
C. Jimenez-Mallebrera et al.
NEUROMUSCULAR DISORDERS (2006)
Congenital muscular dystrophy: molecular and cellular aspects
C Jimenez-Mallebrera et al.
CELLULAR AND MOLECULAR LIFE SCIENCES (2005)
Frameshift mutation in the collagen VI gene causes Ullrich's disease
I Higuchi et al.
ANNALS OF NEUROLOGY (2001)