Investigating human disease using stem cell models (Q34431170)

2 August 2017

title

Investigating human disease using stem cell models (English)

1 reference

2 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25069490%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25069490%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Peter Reinhardt

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25069490%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

publication date

29 July 2014

1 reference

2 August 2017

published in

Nature Reviews Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25069490%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

volume

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25069490%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25069490%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

page(s)

625-639

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25069490%20AND%20SRC:MED&resulttype=core&format=json

Neural progenitor cells from an adult patient with fragile X syndrome

31 May 2020

cites work

1 reference

Astrocytes from familial and sporadic ALS patients are toxic to motor neurons

21 January 2018

1 reference

Developmental study of fragile X syndrome using human embryonic stem cells derived from preimplantation genetically diagnosed embryos

21 January 2018

1 reference

Characterization of forebrain neurons derived from late-onset Huntington's disease human embryonic stem cell lines.

21 January 2018

1 reference

Human embryonic stem cells as models for aneuploid chromosomal syndromes

21 January 2018

1 reference

Derivation of human embryonic stem cell lines from embryos obtained after IVF and after PGD for monogenic disorders.

21 January 2018

1 reference

Non-cell-autonomous effect of human SOD1 G37R astrocytes on motor neurons derived from human embryonic stem cells

21 January 2018

1 reference

Human embryonic stem cell-derived motor neurons are sensitive to the toxic effect of glial cells carrying an ALS-causing mutation

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Induced pluripotent stem cells from a spinal muscular atrophy patient

21 January 2018

1 reference

Induced pluripotent stem cells from patients with Huntington's disease show CAG-repeat-expansion-associated phenotypes

21 January 2018

1 reference

Characterization of Human Huntington's Disease Cell Model from Induced Pluripotent Stem Cells

21 January 2018

1 reference

Quantitative proteomic analysis of induced pluripotent stem cells derived from a human Huntington's disease patient

21 January 2018

1 reference

The first reported generation of several induced pluripotent stem cell lines from homozygous and heterozygous Huntington's disease patients demonstrates mutation related enhanced lysosomal activity

21 January 2018

1 reference

Neuronal properties, in vivo effects, and pathology of a Huntington's disease patient-derived induced pluripotent stem cells

21 January 2018

1 reference

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

21 January 2018

1 reference

Modelling the long QT syndrome with induced pluripotent stem cells

21 January 2018

1 reference

Rescue of ATP7B function in hepatocyte-like cells from Wilson's disease induced pluripotent stem cells using gene therapy or the chaperone drug curcumin

21 January 2018

1 reference

Sustained knockdown of a disease-causing gene in patient-specific induced pluripotent stem cells using lentiviral vector-based gene therapy

21 January 2018

1 reference

Human-induced pluripotent stem cells from blood cells of healthy donors and patients with acquired blood disorders

21 January 2018

1 reference

An iPSC line from human pancreatic ductal adenocarcinoma undergoes early to invasive stages of pancreatic cancer progression.

21 January 2018

1 reference

Enhanced striatal dopamine transmission and motor performance with LRRK2 overexpression in mice is eliminated by familial Parkinson's disease mutation G2019S

21 January 2018

1 reference

Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study

21 January 2018

1 reference

Comparative study of Parkinson's disease and leucine-rich repeat kinase 2 p.G2019S parkinsonism

21 January 2018

1 reference

LRRK2 mutant iPSC-derived DA neurons demonstrate increased susceptibility to oxidative stress

21 January 2018

1 reference

Disease-specific phenotypes in dopamine neurons from human iPS-based models of genetic and sporadic Parkinson's disease.

21 January 2018

1 reference

Modeling Alzheimer's disease with iPSCs reveals stress phenotypes associated with intracellular Aβ and differential drug responsiveness

21 January 2018

1 reference

Genetic correction of a LRRK2 mutation in human iPSCs links parkinsonian neurodegeneration to ERK-dependent changes in gene expression

21 January 2018

1 reference

Progressive degeneration of human neural stem cells caused by pathogenic LRRK2

21 January 2018

1 reference

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

21 January 2018

1 reference

Chronic inhibition of the respiratory chain in human fibroblast cultures: differential responses related to subject chronological and biological age.

21 January 2018

1 reference

Rapid flow cytometric method for measuring senescence associated beta-galactosidase activity in human fibroblasts

21 January 2018

1 reference

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

21 January 2018

1 reference

Efficient drug screening and gene correction for treating liver disease using patient-specific stem cells

21 January 2018

1 reference

Site-specific gene correction of a point mutation in human iPS cells derived from an adult patient with sickle cell disease

21 January 2018

1 reference

Genetic correction of β-thalassemia patient-specific iPS cells and its use in improving hemoglobin production in irradiated SCID mice

21 January 2018

1 reference

Genetic correction of tauopathy phenotypes in neurons derived from human induced pluripotent stem cells

21 January 2018

1 reference

Genetic correction of Huntington's disease phenotypes in induced pluripotent stem cells

21 January 2018

1 reference

Genetic correction of human induced pluripotent stem cells from patients with spinal muscular atrophy

21 January 2018

1 reference

Isogenic human iPSC Parkinson's model shows nitrosative stress-induced dysfunction in MEF2-PGC1α transcription

21 January 2018

1 reference

A TALEN genome-editing system for generating human stem cell-based disease models

21 January 2018

1 reference

Human pluripotent stem cell-derived hepatocytes support complete replication of hepatitis C virus

21 January 2018

1 reference

Productive hepatitis C virus infection of stem cell-derived hepatocytes reveals a critical transition to viral permissiveness during differentiation

21 January 2018

1 reference

Use of human hepatocyte-like cells derived from induced pluripotent stem cells as a model for hepatocytes in hepatitis C virus infection

21 January 2018

1 reference

Modeling hepatitis C virus infection using human induced pluripotent stem cells

21 January 2018

1 reference

Human embryonic stem cell lines model experimental human cytomegalovirus latency

21 January 2018

1 reference

Human induced pluripotent stem cell-derived models to investigate human cytomegalovirus infection in neural cells

21 January 2018

1 reference

Discovery of inhibitors of microglial neurotoxicity acting through multiple mechanisms using a stem-cell-based phenotypic assay

21 January 2018

1 reference

A small molecule screen in stem-cell-derived motor neurons identifies a kinase inhibitor as a candidate therapeutic for ALS.

21 January 2018

1 reference

Prediction of drug-induced cardiotoxicity using human embryonic stem cell-derived cardiomyocytes

21 January 2018

1 reference

Drug screening using a library of human induced pluripotent stem cell-derived cardiomyocytes reveals disease-specific patterns of cardiotoxicity

21 January 2018

1 reference

Somatic mutation, genomic variation, and neurological disease

21 January 2018

1 reference

Somatic coding mutations in human induced pluripotent stem cells

21 January 2018

1 reference

Rapid generation of functional dopaminergic neurons from human induced pluripotent stem cells through a single-step procedure using cell lineage transcription factors

21 January 2018

1 reference

Direct reprogramming of fibroblasts into neural stem cells by defined factors

21 January 2018

1 reference

Homologous recombination in human embryonic stem cells.

21 January 2018

1 reference

Tissue-specific expression of a BAC transgene targeted to the Hprt locus in mouse embryonic stem cells

21 January 2018

1 reference

A targeted neuroglial reporter line generated by homologous recombination in human embryonic stem cells

21 January 2018

1 reference

Modeling disease in human ESCs using an efficient BAC-based homologous recombination system

21 January 2018

1 reference

A targeted NKX2.1 human embryonic stem cell reporter line enables identification of human basal forebrain derivatives.

21 January 2018

1 reference

Efficient and accurate homologous recombination in hESCs and hiPSCs using helper-dependent adenoviral vectors

21 January 2018

1 reference

Efficient targeting of expressed and silent genes in human ESCs and iPSCs using zinc-finger nucleases

21 January 2018

1 reference

Genetic engineering of human pluripotent cells using TALE nucleases

21 January 2018

1 reference

High-frequency off-target mutagenesis induced by CRISPR-Cas nucleases in human cells

21 January 2018

1 reference

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

21 January 2018

1 reference

CAS9 transcriptional activators for target specificity screening and paired nickases for cooperative genome engineering

21 January 2018

1 reference

Enhanced efficiency of human pluripotent stem cell genome editing through replacing TALENs with CRISPRs

21 January 2018

1 reference

Mitochondrial DNA copy number is regulated in a tissue specific manner by DNA methylation of the nuclear-encoded DNA polymerase gamma A

21 January 2018

1 reference

Mitochondrial transfer between oocytes: potential applications of mitochondrial donation and the issue of heteroplasmy

21 January 2018

1 reference

Mitochondrial DNA heteroplasmy after human ooplasmic transplantation

21 January 2018

1 reference

Human embryonic stem cells derived by somatic cell nuclear transfer.

21 January 2018

1 reference

Towards germline gene therapy of inherited mitochondrial diseases

21 January 2018

1 reference

Derivation and expansion using only small molecules of human neural progenitors for neurodegenerative disease modeling

21 January 2018

1 reference

A rosette-type, self-renewing human ES cell-derived neural stem cell with potential for in vitro instruction and synaptic integration

21 January 2018

1 reference

Rapid induction and long-term self-renewal of primitive neural precursors from human embryonic stem cells by small molecule inhibitors

21 January 2018

1 reference

Highly efficient induction and long-term maintenance of multipotent cardiovascular progenitors from human pluripotent stem cells under defined conditions

21 January 2018

1 reference

Self-renewing endodermal progenitor lines generated from human pluripotent stem cells

21 January 2018

1 reference

Generation of multipotent foregut stem cells from human pluripotent stem cells

21 January 2018

1 reference

Differentiation of human embryonic stem cells and induced pluripotent stem cells to cardiomyocytes: a methods overview

21 January 2018

1 reference

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

21 January 2018

1 reference

Cerebral organoids model human brain development and microcephaly

21 January 2018

1 reference

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

21 January 2018

1 reference

Self-formation of optic cups and storable stratified neural retina from human ESCs.

21 January 2018

1 reference

Small intestinal submucosa segments as matrix for tissue engineering: review

21 January 2018

1 reference

Age at onset in LRRK2-associated PD is modified by SNCA variants.

21 January 2018

1 reference

Modeling inherited metabolic disorders of the liver using human induced pluripotent stem cells.

21 January 2018

1 reference

Induced pluripotent stem cell models of progranulin-deficient frontotemporal dementia uncover specific reversible neuronal defects

21 January 2018

1 reference

Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion

21 January 2018

1 reference

Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons

21 January 2018

1 reference

RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention

21 January 2018

1 reference

Modeling ALS with iPSCs reveals that mutant SOD1 misregulates neurofilament balance in motor neurons

21 January 2018

1 reference

Pathways disrupted in human ALS motor neurons identified through genetic correction of mutant SOD1.

21 January 2018

1 reference

Intrinsic membrane hyperexcitability of amyotrophic lateral sclerosis patient-derived motor neurons

21 January 2018

1 reference

Drug screening for ALS using patient-specific induced pluripotent stem cells

21 January 2018

1 reference

Mutant induced pluripotent stem cell lines recapitulate aspects of TDP-43 proteinopathies and reveal cell-specific vulnerability

21 January 2018

1 reference

Astrocyte pathology and the absence of non-cell autonomy in an induced pluripotent stem cell model of TDP-43 proteinopathy.

21 January 2018

1 reference

APP processing in human pluripotent stem cell-derived neurons is resistant to NSAID-based γ-secretase modulation.

21 January 2018

1 reference

Modeling familial Alzheimer's disease with induced pluripotent stem cells

21 January 2018

1 reference

A human stem cell model of early Alzheimer's disease pathology in Down syndrome

21 January 2018

1 reference

Derivation and functional analysis of patient-specific induced pluripotent stem cells as an in vitro model of chronic granulomatous disease

21 January 2018

1 reference

Cardiomyocytes generated from CPVTD307H patients are arrhythmogenic in response to β-adrenergic stimulation

21 January 2018

1 reference

In vitro modeling of ryanodine receptor 2 dysfunction using human induced pluripotent stem cells

21 January 2018

1 reference

Cell model of catecholaminergic polymorphic ventricular tachycardia reveals early and delayed afterdepolarizations

21 January 2018

1 reference

Ca2+ signaling in human induced pluripotent stem cell-derived cardiomyocytes (iPS-CM) from normal and catecholaminergic polymorphic ventricular tachycardia (CPVT)-afflicted subjects.

21 January 2018

1 reference

Dantrolene rescues arrhythmogenic RYR2 defect in a patient-specific stem cell model of catecholaminergic polymorphic ventricular tachycardia

21 January 2018

1 reference

Epigenetic characterization of the FMR1 gene and aberrant neurodevelopment in human induced pluripotent stem cell models of fragile X syndrome

21 January 2018

1 reference

Drug evaluation in cardiomyocytes derived from human induced pluripotent stem cells carrying a long QT syndrome type 2 mutation

21 January 2018

1 reference

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

21 January 2018

1 reference

Isogenic human pluripotent stem cell pairs reveal the role of a KCNH2 mutation in long-QT syndrome

21 January 2018

1 reference

Disease characterization using LQTS-specific induced pluripotent stem cells

21 January 2018

1 reference

Induced pluripotent stem cells used to reveal drug actions in a long QT syndrome family with complex genetics

21 January 2018

1 reference

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

21 January 2018

1 reference

Modeling type 3 long QT syndrome with cardiomyocytes derived from patient-specific induced pluripotent stem cells

21 January 2018

1 reference

Skeletogenic phenotype of human Marfan embryonic stem cells faithfully phenocopied by patient-specific induced-pluripotent stem cells

21 January 2018

1 reference

Pharmacological rescue of mitochondrial deficits in iPSC-derived neural cells from patients with familial Parkinson's disease

21 January 2018

1 reference

Interplay of LRRK2 with chaperone-mediated autophagy

21 January 2018

1 reference

LRRK2 mutations cause mitochondrial DNA damage in iPSC-derived neural cells from Parkinson's disease patients: reversal by gene correction

21 January 2018

1 reference

Parkin controls dopamine utilization in human midbrain dopaminergic neurons derived from induced pluripotent stem cells

21 January 2018

1 reference

Mitochondrial dysfunction associated with increased oxidative stress and α-synuclein accumulation in PARK2 iPSC-derived neurons and postmortem brain tissue

21 January 2018

1 reference

Mitochondrial Parkin recruitment is impaired in neurons derived from mutant PINK1 induced pluripotent stem cells

21 January 2018

1 reference

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

21 January 2018

1 reference

Establishment of induced pluripotent stem cells from centenarians for neurodegenerative disease research

21 January 2018

1 reference

Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification

21 January 2018

1 reference

Isogenic pairs of wild type and mutant induced pluripotent stem cell (iPSC) lines from Rett syndrome patients as in vitro disease model

21 January 2018

1 reference

Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation

21 January 2018

1 reference

Neuronal maturation defect in induced pluripotent stem cells from patients with Rett syndrome

21 January 2018

1 reference

Modelling schizophrenia using human induced pluripotent stem cells

21 January 2018

1 reference

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

21 January 2018

1 reference

Brief report: phenotypic rescue of induced pluripotent stem cell-derived motoneurons of a spinal muscular atrophy patient.

21 January 2018

1 reference

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

21 January 2018

1 reference

Using induced pluripotent stem cells to investigate cardiac phenotypes in Timothy syndrome

21 January 2018

1 reference

Timothy syndrome is associated with activity-dependent dendritic retraction in rodent and human neurons

21 January 2018

1 reference

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

21 January 2018

1 reference

Dopamine neurons derived from human ES cells efficiently engraft in animal models of Parkinson's disease

31 March 2020

1 reference

Organ-on-a-chip platforms for studying drug delivery systems

31 March 2020

1 reference

Probing sporadic and familial Alzheimer's disease using induced pluripotent stem cells

31 March 2020

1 reference

Use of induced pluripotent stem cells to recapitulate pulmonary alveolar proteinosis pathogenesis

31 March 2020

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25069490

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Gene correction of human induced pluripotent stem cells repairs the cellular phenotype in pulmonary alveolar proteinosis.

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25069490