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。CRISPR correction of the PRKAG2 gene mutation in the patient's induced pluripotent stem cell-derived cardiomyocytes eliminates electrophysiological and structural abnormalities
Ronen Ben Jehuda et al.
HEART RHYTHM (2018)
A Precision Medicine Approach to the Rescue of Function on Malignant Calmodulinopathic Long-QT Syndrome
Worawan B. Limpitikul et al.
CIRCULATION RESEARCH (2017)
Molecular and functional resemblance of differentiated cells derived from isogenic human iPSCs and SCNT-derived ESCs
Ming-Tao Zhao et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2017)
Lack of MTTP Activity in Pluripotent Stem Cell-Derived Hepatocytes and Cardiomyocytes Abolishes apoB Secretion and Increases Cell Stress
Ying Liu et al.
CELL REPORTS (2017)
Proteasome impairment in neural cells derived from HMSN-P patient iPSCs
Nagahisa Murakami et al.
MOLECULAR BRAIN (2017)
CRISPR/Cas9-mediated targeted gene correction in amyotrophic lateral sclerosis patient iPSCs
Lixia Wang et al.
PROTEIN & CELL (2017)
Patient iPSC-Derived Neurons for Disease Modeling of Frontotemporal Dementia with Mutation in CHMP2B
Yu Zhang et al.
STEM CELL REPORTS (2017)
Reversal of Phenotypic Abnormalities by CRISPR/Cas9-Mediated Gene Correction in Huntington Disease Patient-Derived Induced Pluripotent Stem Cells
Xiaohong Xu et al.
STEM CELL REPORTS (2017)
Genetics of long-QT syndrome
Yukiko Nakano et al.
JOURNAL OF HUMAN GENETICS (2016)
A Single CRISPR-Cas9 Deletion Strategy that Targets the Majority of DMD Patients Restores Dystrophin Function in hiPSC-Derived Muscle Cells
Courtney S. Young et al.
CELL STEM CELL (2016)
Patient-Specific and Genome-Edited Induced Pluripotent Stem Cell-Derived Cardiomyocytes Elucidate Single-Cell Phenotype of Brugada Syndrome
Ping Liang et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2016)
Site-specific genome editing for correction of induced pluripotent stem cells derived from dominant dystrophic epidermolysis bullosa
Satoru Shinkuma et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2016)
Concurrent progress of reprogramming and gene correction to overcome therapeutic limitation of mutant ALK2-iPSC
Bu-Yeo Kim et al.
EXPERIMENTAL AND MOLECULAR MEDICINE (2016)
CRISPR-mediated genotypic and phenotypic correction of a chronic granulomatous disease mutation in human iPS cells
Rowan Flynn et al.
EXPERIMENTAL HEMATOLOGY (2015)
Functional abnormalities in iPSC-derived cardiomyocytes generated from CPVT1 and CPVT2 patients carrying ryanodine or calsequestrin mutations
Atara Novak et al.
JOURNAL OF CELLULAR AND MOLECULAR MEDICINE (2015)
Regulation of Postsynaptic Function by the Dementia-Related ESCRT-III Subunit CHMP2B
Romain Chassefeyre et al.
JOURNAL OF NEUROSCIENCE (2015)
Efficient and Allele-Specific Genome Editing of Disease Loci in Human iPSCs
Cory Smith et al.
MOLECULAR THERAPY (2015)
Production of Gene-Corrected Adult Beta Globin Protein in Human Erythrocytes Differentiated From Patient iPSCs After Genome Editing of the Sickle Point Mutation
Xiaosong Huang et al.
STEM CELLS (2015)
Reversion of FMR1 Methylation and Silencing by Editing the Triplet Repeats in Fragile X iPSC-Derived Neurons
Chul-Yong Park et al.
CELL REPORTS (2015)
Long-Term Efficacy of Systemic Multiexon Skipping Targeting Dystrophin Exons 45-55 With a Cocktail of Vivo-Morpholinos in Mdx52 Mice
Yusuke Echigoya et al.
MOLECULAR THERAPY-NUCLEIC ACIDS (2015)
Precise Correction of the Dystrophin Gene in Duchenne Muscular Dystrophy Patient Induced Pluripotent Stem Cells by TALEN and CRISPR-Cas9
Hongmei Lisa Li et al.
STEM CELL REPORTS (2015)
Seamless gene correction of β-thalassemia mutations in patient-specific iPSCs using CRISPR/Cas9 and piggyBac
Fei Xie et al.
GENOME RESEARCH (2014)
CRISPR-Cas systems for editing, regulating and targeting genomes
Jeffry D. Sander et al.
NATURE BIOTECHNOLOGY (2014)
Genome editing with Cas9 in adult mice corrects a disease mutation and phenotype
Hao Yin et al.
NATURE BIOTECHNOLOGY (2014)
Isolation of single-base genome-edited human iPS cells without antibiotic selection
Yuichiro Miyaoka et al.
NATURE METHODS (2014)
CARDIAC POTASSIUM CHANNEL SUBTYPES: NEW ROLES IN REPOLARIZATION AND ARRHYTHMIA
Nicole Schmitt et al.
PHYSIOLOGICAL REVIEWS (2014)
One-Step Generation of Mice Carrying Mutations in Multiple Genes by CRISPR/Cas-Mediated Genome Engineering
Haoyi Wang et al.
CELL (2013)
Double Nicking by RNA-Guided CRISPR Cas9 for Enhanced Genome Editing Specificity
F. Ann Ran et al.
CELL (2013)
Correction of a Genetic Disease in Mouse via Use of CRISPR-Cas9
Yuxuan Wu et al.
CELL STEM CELL (2013)
Generation of an ICF Syndrome Model by Efficient Genome Editing of Human Induced Pluripotent Stem Cells Using the CRISPR System
Takuro Horii et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2013)
Targeted genome engineering in human cells with the Cas9 RNA-guided endonuclease
Seung Woo Cho et al.
NATURE BIOTECHNOLOGY (2013)
High-throughput profiling of off-target DNA cleavage reveals RNA-programmed Cas9 nuclease specificity
Vikram Pattanayak et al.
NATURE BIOTECHNOLOGY (2013)
Genome engineering using the CRISPR-Cas9 system
F. Ann Ran et al.
NATURE PROTOCOLS (2013)
Multiplex Genome Engineering Using CRISPR/Cas Systems
Le Cong et al.
SCIENCE (2013)
Phenotypic Screening with Human iPS Cell-Derived Cardiomyocytes: HTS-Compatible Assays for Interrogating Cardiac Hypertrophy
Coby Carlson et al.
JOURNAL OF BIOMOLECULAR SCREENING (2013)
Current Challenges and Future Directions in Recombinant AAV-Mediated Gene Therapy of Duchenne Muscular Dystrophy
Takashi Okada et al.
PHARMACEUTICALS (2013)
The TRK-Fused Gene Is Mutated in Hereditary Motor and Sensory Neuropathy with Proximal Dominant Involvement
Hiroyuki Ishiura et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Dantrolene rescues arrhythmogenic RYR2 defect in a patient-specific stem cell model of catecholaminergic polymorphic ventricular tachycardia
Christian B. Jung et al.
EMBO MOLECULAR MEDICINE (2012)
Essential Features and Rational Design of CRISPR RNAs that Function with the Cas RAMP Module Complex to Cleave RNAs
Caryn R. Hale et al.
MOLECULAR CELL (2012)
A transcription activator-like effector toolbox for genome engineering
Neville E. Sanjana et al.
NATURE PROTOCOLS (2012)
Cas9-crRNA ribonucleoprotein complex mediates specific DNA cleavage for adaptive immunity in bacteria
Giedrius Gasiunas et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2012)
A Programmable Dual-RNA-Guided DNA Endonuclease in Adaptive Bacterial Immunity
Martin Jinek et al.
SCIENCE (2012)
Pathogenic Mutation of ALK2 Inhibits Induced Pluripotent Stem Cell Reprogramming and Maintenance: Mechanisms of Reprogramming and Strategy for Drug Identification
Makoto Hamasaki et al.
STEM CELLS (2012)
Induced Pluripotent Stem Cells from Ataxia-Telangiectasia Recapitulate the Cellular Phenotype
Sam Nayler et al.
STEM CELLS TRANSLATIONAL MEDICINE (2012)
Ultrastructure and molecular pathogenesis of epidermolysis bullosa
Satoru Shinkuma et al.
CLINICS IN DERMATOLOGY (2011)
Frontotemporal Dementia Caused by CHMP2B Mutations
A. M. Isaacs et al.
Current Alzheimer Research (2011)
HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies
Michael J. Ackerman et al.
HEART RHYTHM (2011)
High risk of sudden death associated with a PRKAG2-related familial Wolff-Parkinson-White syndrome
Li-Ping Zhang et al.
JOURNAL OF ELECTROCARDIOLOGY (2011)
Current Status of Pharmaceutical and Genetic Therapeutic Approaches to Treat DMD
Christophe Pichavant et al.
MOLECULAR THERAPY (2011)
CRISPR RNA maturation by trans-encoded small RNA and host factor RNase III
Elitza Deltcheva et al.
NATURE (2011)
Evolution and classification of the CRISPR-Cas systems
Kira S. Makarova et al.
NATURE REVIEWS MICROBIOLOGY (2011)
The Streptococcus thermophilus CRISPR/Cas system provides immunity in Escherichia coli
Rimantas Sapranauskas et al.
NUCLEIC ACIDS RESEARCH (2011)
Chromatin Structure and Gene Expression Programs of Human Embryonic and Induced Pluripotent Stem Cells
Matthew G. Guenther et al.
CELL STEM CELL (2010)
Chronic Granulomatous Disease
Steven M. Holland
CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY (2010)
Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management
Katharine Bushby et al.
LANCET NEUROLOGY (2010)
The diagnosis of young-onset dementia
Martin N. Rossor et al.
LANCET NEUROLOGY (2010)
Transfusion independence and HMGA2 activation after gene therapy of human β-thalassaemia
Marina Cavazzana-Calvo et al.
NATURE (2010)
Genomic instability and myelodysplasia with monosomy 7 consequent to EVI1 activation after gene therapy for chronic granulomatous disease
Stefan Stein et al.
NATURE MEDICINE (2010)
Parkinson's Disease Patient-Derived Induced Pluripotent Stem Cells Free of Viral Reprogramming Factors
Frank Soldner et al.
CELL (2009)
Theoretic Applicability of Antisense-Mediated Exon Skipping for Duchenne Muscular Dystrophy Mutations
Annemieke Aartsma-Rus et al.
HUMAN MUTATION (2009)
Disorders of biopterin metabolism
Nicola Longo
JOURNAL OF INHERITED METABOLIC DISEASE (2009)
Disease-corrected haematopoietic progenitors from Fanconi anaemia induced pluripotent stem cells
Angel Raya et al.
NATURE (2009)
Generation of pluripotent stem cells from patients with type 1 diabetes
Rene Maehr et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
Breaking the Code of DNA Binding Specificity of TAL-Type III Effectors
Jens Boch et al.
SCIENCE (2009)
Long QT Syndrome
Ilan Goldenberg et al.
CURRENT PROBLEMS IN CARDIOLOGY (2008)
The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB
Jo-David Fine et al.
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY (2008)
A protocol for removal of antibiotic resistance cassettes from human embryonic stem cells genetically modified by homologous recombination or transgenesis
Richard P. Davis et al.
NATURE PROTOCOLS (2008)
Small CRISPR RNAs guide antiviral defense in prokaryotes
Stan J. J. Brouns et al.
SCIENCE (2008)
CRISPR provides acquired resistance against viruses in prokaryotes
Rodolphe Barrangou et al.
SCIENCE (2007)
Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63 % of patients with Duchenne muscular dystrophy
Christophe Beroud et al.
HUMAN MUTATION (2007)
Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors
Kazutoshi Takahashi et al.
CELL (2006)
Kv1.5 channelopathy due to KCNA5 loss-of-function mutation causes human atrial fibrillation
Timothy M. Olson et al.
HUMAN MOLECULAR GENETICS (2006)
A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva
EM Shore et al.
NATURE GENETICS (2006)
N488I mutation of the γ2-subunit results in bidirectional changes in AMP-activated protein kinase activity
LQ Zou et al.
CIRCULATION RESEARCH (2005)
The microsomal triglyceride transfer protein gene-493T variant lowers cholesterol but increases the risk of coronary heart disease
H Ledmyr et al.
CIRCULATION (2004)
Determinants of sudden cardiac death in individuals with the electrocardiographic pattern of Brugada syndrome and no previous cardiac arrest
J Brugada et al.
CIRCULATION (2003)
LMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1
S Hacein-Bey-Abina et al.
SCIENCE (2003)
FMR1 and the fragile X syndrome:: Human genome epidemiology review
DC Crawford et al.
GENETICS IN MEDICINE (2001)
ABCA1 is the cAMP-inducible apolipoprotein receptor that mediates cholesterol secretion from macrophages
JF Oram et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2000)
Genetic, biochemical, and clinical features of chronic granulomatous disease
BH Segal et al.
MEDICINE (2000)
DNA hypomethylation and unusual chromosome instability in cell lines from ICF syndrome patients
CM Tuck-Muller et al.
CYTOGENETICS AND CELL GENETICS (2000)