(Q47747683)

http://europepmc.org/abstract/MED/29307697

5 February 2018

title

Modeling rare diseases with induced pluripotent stem cell technology (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6033695&resulttype=core&format=json

12 May 2020

1 reference

Ruthellen H Anderson

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6033695&resulttype=core&format=json

12 May 2020

Kevin R Francis

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6033695&resulttype=core&format=json

12 May 2020

publication date

4 January 2018

1 reference

http://europepmc.org/abstract/MED/29307697

5 February 2018

published in

Molecular and Cellular Probes

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6033695&resulttype=core&format=json

12 May 2020

volume

40

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6033695&resulttype=core&format=json

12 May 2020

page(s)

52-59

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6033695&resulttype=core&format=json

Sheep cloned by nuclear transfer from a cultured cell line

12 May 2020

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Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors

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Human leukocyte antigen matching estimations in a hypothetical bank of human embryonic stem cell lines in the Japanese population for use in cell transplantation therapy

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Non-cell autonomous effect of glia on motor neurons in an embryonic stem cell-based ALS model

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Induction of pluripotent stem cells from adult human fibroblasts by defined factors

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Induced pluripotent stem cells generated from patients with ALS can be differentiated into motor neurons

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Scaffold-free human cardiac tissue patch created from embryonic stem cells

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Induced pluripotent stem cells from a spinal muscular atrophy patient

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12 December 2020

piggyBac transposition reprograms fibroblasts to induced pluripotent stem cells

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Human induced pluripotent stem cells free of vector and transgene sequences

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12 December 2020

Disease-corrected haematopoietic progenitors from Fanconi anaemia induced pluripotent stem cells.

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12 December 2020

Modelling pathogenesis and treatment of familial dysautonomia using patient-specific iPSCs.

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12 December 2020

Genetic modifiers of liver disease in cystic fibrosis

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12 December 2020

Physiological function and transplantation of scaffold-free and vascularized human cardiac muscle tissue

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12 December 2020

Efficient induction of transgene-free human pluripotent stem cells using a vector based on Sendai virus, an RNA virus that does not integrate into the host genome

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12 December 2020

Neural differentiation of human induced pluripotent stem cells follows developmental principles but with variable potency

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12 December 2020

Dishevelled interacts with p65 and acts as a repressor of NF-κB-mediated transcription

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12 December 2020

Epigenetic memory in induced pluripotent stem cells

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Patient-specific induced pluripotent stem-cell models for long-QT syndrome

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Rare diseases epidemiology research.

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Induced pluripotent stem cell models of the genomic imprinting disorders Angelman and Prader-Willi syndromes

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Induced pluripotent stem cells can be used to model the genomic imprinting disorder Prader-Willi syndrome

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12 December 2020

A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells

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12 December 2020

Directed differentiation of human pluripotent stem cells into intestinal tissue in vitro

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12 December 2020

Generation of induced pluripotent stem cell lines from Friedreich ataxia patients.

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12 December 2020

Extrapolation from mouse to man

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12 December 2020

Recapitulation of premature ageing with iPSCs from Hutchinson-Gilford progeria syndrome

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12 December 2020

Self-organizing optic-cup morphogenesis in three-dimensional culture

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12 December 2020

Incomplete DNA methylation underlies a transcriptional memory of somatic cells in human iPS cells.

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12 December 2020

Targeted gene correction of α1-antitrypsin deficiency in induced pluripotent stem cells

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12 December 2020

Model for long QT syndrome type 2 using human iPS cells demonstrates arrhythmogenic characteristics in cell culture

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12 December 2020

Self-formation of functional adenohypophysis in three-dimensional culture.

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12 December 2020

SNCA triplication Parkinson's patient's iPSC-derived DA neurons accumulate α-synuclein and are susceptible to oxidative stress

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12 December 2020

Excitation-induced ataxin-3 aggregation in neurons from patients with Machado-Joseph disease

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12 December 2020

Donor cell type can influence the epigenome and differentiation potential of human induced pluripotent stem cells

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12 December 2020

Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome

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12 December 2020

Safe harbours for the integration of new DNA in the human genome

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12 December 2020

RNA-guided genetic silencing systems in bacteria and archaea

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12 December 2020

Derivation of autism spectrum disorder-specific induced pluripotent stem cells from peripheral blood mononuclear cells

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12 December 2020

Rare diseases and orphan drugs

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12 December 2020

Cardiomyocytes derived from pluripotent stem cells recapitulate electrophysiological characteristics of an overlap syndrome of cardiac sodium channel disease

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12 December 2020

Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication

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12 December 2020

Inhibition of apoptosis blocks human motor neuron cell death in a stem cell model of spinal muscular atrophy

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12 December 2020

Generation of functional thyroid from embryonic stem cells

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12 December 2020

Modeling long-QT syndromes with iPS cells.

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12 December 2020

Neuronopathic Gaucher's disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compounds

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12 December 2020

Pluripotent stem cell models of Shwachman-Diamond syndrome reveal a common mechanism for pancreatic and hematopoietic dysfunction

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12 December 2020

Modeling human disease with pluripotent stem cells: from genome association to function.

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12 December 2020

Vascularized and functional human liver from an iPSC-derived organ bud transplant.

1 reference

12 December 2020

Generation of inner ear sensory epithelia from pluripotent stem cells in 3D culture

1 reference

12 December 2020

Pluripotent stem cells induced from mouse somatic cells by small-molecule compounds

1 reference

12 December 2020

Double nicking by RNA-guided CRISPR Cas9 for enhanced genome editing specificity

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12 December 2020

Cerebral organoids model human brain development and microcephaly

1 reference

12 December 2020

Niemann-Pick type C1 patient-specific induced pluripotent stem cells display disease specific hallmarks

1 reference

12 December 2020

SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients

1 reference

12 December 2020

C57BL/6J congenic Prp-TDP43A315T mice develop progressive neurodegeneration in the myenteric plexus of the colon without exhibiting key features of ALS.

1 reference

12 December 2020

Induced pluripotent stem cell reprogramming by integration-free Sendai virus vectors from peripheral blood of patients with craniometaphyseal dysplasia

1 reference

12 December 2020

Human iPSC-based modeling of late-onset disease via progerin-induced aging

1 reference

12 December 2020

Direct comparison of autologous and allogeneic transplantation of iPSC-derived neural cells in the brain of a non-human primate

1 reference

12 December 2020

Increased l1 retrotransposition in the neuronal genome in schizophrenia

1 reference

12 December 2020

Concise review: drug discovery in the age of the induced pluripotent stem cell

1 reference

12 December 2020

Differentiated human stem cells resemble fetal, not adult, β cells

1 reference

12 December 2020

CRISPR-Cas systems for editing, regulating and targeting genomes

1 reference

12 December 2020

Gaucher iPSC-derived macrophages produce elevated levels of inflammatory mediators and serve as a new platform for therapeutic development.

1 reference

12 December 2020

Effective clearance of GL-3 in a human iPSC-derived cardiomyocyte model of Fabry disease

1 reference

12 December 2020

Genetic and chemical correction of cholesterol accumulation and impaired autophagy in hepatic and neural cells derived from Niemann-Pick Type C patient-specific iPS cells.

1 reference

12 December 2020

Selective demethylation and altered gene expression are associated with ICF syndrome in human-induced pluripotent stem cells and mesenchymal stem cells

1 reference

12 December 2020

Functional and molecular defects of hiPSC-derived neurons from patients with ATM deficiency

1 reference

12 December 2020

Prevention of muscular dystrophy in mice by CRISPR/Cas9-mediated editing of germline DNA

1 reference

12 December 2020

Modelling human development and disease in pluripotent stem-cell-derived gastric organoids

1 reference

12 December 2020

Prediction of interindividual differences in hepatic functions and drug sensitivity by using human iPS-derived hepatocytes.

1 reference

12 December 2020

Recessive cardiac phenotypes in induced pluripotent stem cell models of Jervell and Lange-Nielsen syndrome: disease mechanisms and pharmacological rescue

1 reference

12 December 2020

Enhanced homology-directed human genome engineering by controlled timing of CRISPR/Cas9 delivery

1 reference

12 December 2020

Modeling Genomic Imprinting Disorders Using Induced Pluripotent Stem Cells.

1 reference

12 December 2020

Increasing the efficiency of precise genome editing with CRISPR-Cas9 by inhibition of nonhomologous end joining

1 reference

12 December 2020

In vitro generation of human pluripotent stem cell derived lung organoids

1 reference

12 December 2020

Properties of neurons derived from induced pluripotent stem cells of Gaucher disease type 2 patient fibroblasts: potential role in neuropathology

1 reference

12 December 2020

CRISPR/Cas9-mediated gene editing in human tripronuclear zygotes

1 reference

12 December 2020

Efficient generation of hiPSC neural lineage specific knockin reporters using the CRISPR/Cas9 and Cas9 double nickase system

1 reference

12 December 2020

CRISPR-mediated genotypic and phenotypic correction of a chronic granulomatous disease mutation in human iPS cells.

1 reference

12 December 2020

From Dish to Bedside: Lessons Learned While Translating Findings from a Stem Cell Model of Disease to a Clinical Trial

1 reference

12 December 2020

Disease modeling and lentiviral gene transfer in patient-specific induced pluripotent stem cells from late-onset Pompe disease patient

1 reference

12 December 2020

Genome-editing tools for stem cell biology

1 reference

12 December 2020

Stochasticity and Spatial Interaction Govern Stem Cell Differentiation Dynamics.

1 reference

12 December 2020

A new model to study neurodegeneration in ataxia oculomotor apraxia type 2

1 reference

12 December 2020

Human iPSC derived disease model of MERTK-associated retinitis pigmentosa

1 reference

12 December 2020

Human iPS cell models of Jervell and Lange-Nielsen syndrome

1 reference

12 December 2020

Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

1 reference

12 December 2020

Modeling Andersen's Syndrome in Human Induced Pluripotent Stem Cells.

1 reference

12 December 2020

Maturation status of sarcomere structure and function in human iPSC-derived cardiac myocytes

1 reference

12 December 2020

Induced Pluripotent Stem Cells to Model Human Fibrodysplasia Ossificans Progressiva

1 reference

12 December 2020

Cockayne syndrome-derived neurons display reduced synapse density and altered neural network synchrony

1 reference

12 December 2020

Human iPS cell model of type 3 long QT syndrome recapitulates drug-based phenotype correction

1 reference

12 December 2020

Genetic Variation, Not Cell Type of Origin, Underlies the Majority of Identifiable Regulatory Differences in iPSCs

1 reference

12 December 2020

RS-1 enhances CRISPR/Cas9- and TALEN-mediated knock-in efficiency

1 reference

12 December 2020

Pluripotent stem cells progressing to the clinic

1 reference

12 December 2020

Modeling Smith-Lemli-Opitz syndrome with induced pluripotent stem cells reveals a causal role for Wnt/β-catenin defects in neuronal cholesterol synthesis phenotypes

1 reference

12 December 2020

Introducing precise genetic modifications into human 3PN embryos by CRISPR/Cas-mediated genome editing

1 reference

12 December 2020

Altered proliferation and networks in neural cells derived from idiopathic autistic individuals

1 reference

12 December 2020

ALS disrupts spinal motor neuron maturation and aging pathways within gene co-expression networks

1 reference

12 December 2020

Induced Pluripotent Stem Cells for Disease Modeling and Evaluation of Therapeutics for Niemann-Pick Disease Type A

1 reference

12 December 2020

Generating Late-Onset Human iPSC-Based Disease Models by Inducing Neuronal Age-Related Phenotypes through Telomerase Manipulation

1 reference

12 December 2020

Induced pluripotent stem cells (iPSC) created from skin fibroblasts of patients with Prader-Willi syndrome (PWS) retain the molecular signature of PWS.

1 reference

12 December 2020

A new era of disease modeling and drug discovery using induced pluripotent stem cells

1 reference

12 December 2020

Human tissues in a dish: The research and ethical implications of organoid technology

1 reference

12 December 2020

Metabolomic Profiling of Pompe Disease-Induced Pluripotent Stem Cell-Derived Cardiomyocytes Reveals That Oxidative Stress Is Associated with Cardiac and Skeletal Muscle Pathology

1 reference

12 December 2020

Generation of Human Induced Pluripotent Stem Cell-Derived Bona Fide Neural Stem Cells for Ex Vivo Gene Therapy of Metachromatic Leukodystrophy

1 reference

12 December 2020

Modeling Williams syndrome with induced pluripotent stem cells

1 reference

12 December 2020

Modeling Glanzmann thrombasthenia using patient specific iPSCs and restoring platelet aggregation function by CD41 overexpression

1 reference

12 December 2020

Rescue of the MERTK phagocytic defect in a human iPSC disease model using translational read-through inducing drugs

1 reference

12 December 2020

Autologous Induced Stem-Cell-Derived Retinal Cells for Macular Degeneration.

1 reference

12 December 2020

Therapeutic effects of proteoliposomes on X-linked chronic granulomatous disease: proof of concept using macrophages differentiated from patient-specific induced pluripotent stem cells.

1 reference

12 December 2020

Modeling the Mutational and Phenotypic Landscapes of Pelizaeus-Merzbacher Disease with Human iPSC-Derived Oligodendrocytes

1 reference

12 December 2020

Induced pluripotent stem cells derived from Bernard-Soulier Syndrome patient's peripheral blood cells with a p.Phe55Ser mutation in the GPIX gene.

1 reference

12 December 2020

Disrupted neuronal maturation in Angelman syndrome-derived induced pluripotent stem cells.

1 reference

12 December 2020

Assembly of functionally integrated human forebrain spheroids

1 reference

12 December 2020

Induced Pluripotent Stem Cells Derived from a CLN5 Patient Manifest Phenotypic Characteristics of Neuronal Ceroid Lipofuscinoses

1 reference

12 December 2020

Genetic Rescue of Mitochondrial and Skeletal Muscle Impairment in an Induced Pluripotent Stem Cells Model of Coenzyme Q10 Deficiency.

1 reference

12 December 2020

Fused cerebral organoids model interactions between brain regions.

1 reference

12 December 2020

Impaired mitophagy facilitates mitochondrial damage in Danon disease

1 reference

12 December 2020

Neural stem cells for disease modeling of Wolman disease and evaluation of therapeutics

1 reference

12 December 2020

Decreased calcium flux in Niemann-Pick type C1 patient-specific iPSC-derived neurons due to higher amount of calcium-impermeable AMPA receptors.

1 reference

12 December 2020

Correction of a pathogenic gene mutation in human embryos

1 reference

12 December 2020

10.1016/J.MCP.2018.01.001

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6033695&resulttype=core&format=json

12 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6033695&resulttype=core&format=json

12 May 2020

1 reference