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

https://doi.org/10.1073/pnas.1004487107
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What this work says

Outgoing claims: the papers this work cites, builds on, or argues with.

inferredcites →https://doi.org/10.1002/(sici)1096-8628(19971219)73:3<308::aid-ajmg15>3.0.co;2-nopenalex-snapshot
Prader-Willi and Angelman syndromes: Diagnosis with a bisulfite-treated methylation-specific PCR method
inferredcites →https://doi.org/10.1002/ajmg.a.31074openalex-snapshot
Angelman syndrome 2005: Updated consensus for diagnostic criteria
inferredcites →https://doi.org/10.1002/stem.205openalex-snapshot
Clone- and Gene-Specific Aberrations of Parental Imprinting in Human Induced Pluripotent Stem Cells
inferredcites →https://doi.org/10.1006/geno.2001.6543openalex-snapshot
The Prader–Willi Syndrome Imprinting Center Activates the Paternally Expressed Murine Ube3a Antisense Transcript but Represses Paternal Ube3a
inferredcites →https://doi.org/10.1016/j.cell.2007.11.019openalex-snapshot
Induction of Pluripotent Stem Cells from Adult Human Fibroblasts by Defined Factors
inferredcites →https://doi.org/10.1016/j.cell.2010.01.026openalex-snapshot
The Angelman Syndrome Protein Ube3A Regulates Synapse Development by Ubiquitinating Arc
inferredcites →https://doi.org/10.1016/j.stem.2009.08.010openalex-snapshot
Pluripotent Stem Cells and Disease Modeling
inferredcites →https://doi.org/10.1016/j.stem.2010.04.005openalex-snapshot
Differential Modeling of Fragile X Syndrome by Human Embryonic Stem Cells and Induced Pluripotent Stem Cells
inferredcites →https://doi.org/10.1016/s0959-437x(99)80025-2openalex-snapshot
Mechanisms of genomic imprinting
inferredcites →https://doi.org/10.1038/85927openalex-snapshot
Maternal methylation imprints on human chromosome 15 are established during or after fertilization
inferredcites →https://doi.org/10.1038/ejhg.2008.165openalex-snapshot
Prader–Willi syndrome
inferredcites →https://doi.org/10.1038/nature08320openalex-snapshot
Modelling pathogenesis and treatment of familial dysautonomia using patient-specific iPSCs
inferredcites →https://doi.org/10.1038/ng0598-15openalex-snapshot
An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript
inferredcites →https://doi.org/10.1038/ng0997-12openalex-snapshot
Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain
inferredcites →https://doi.org/10.1038/ng0997-14openalex-snapshot
The Angelman syndrome candidate gene, UBE3AIE6-AP, is imprinted in brain
inferredcites →https://doi.org/10.1038/ng0997-75openalex-snapshot
Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons
inferredcites →https://doi.org/10.1056/nejmoa0908679openalex-snapshot
Patient-Specific Induced Pluripotent Stem-Cell Models for Long-QT Syndrome
inferredcites →https://doi.org/10.1073/pnas.0910012107openalex-snapshot
Neural differentiation of human induced pluripotent stem cells follows developmental principles but with variable potency
inferredcites →https://doi.org/10.1073/pnas.250426397openalex-snapshot
Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization
inferredcites →https://doi.org/10.1073/pnas.93.18.9821openalex-snapshot
Methylation-specific PCR: a novel PCR assay for methylation status of CpG islands.
inferredcites →https://doi.org/10.1074/jbc.m108586200openalex-snapshot
Maternal Primary Imprinting Is Established at a Specific Time for Each Gene throughout Oocyte Growth
inferredcites →https://doi.org/10.1093/cercor/bhj133openalex-snapshot
Differential Effects of Endocannabinoids on Glutamatergic and GABAergic Inputs to Layer 5 Pyramidal Neurons
inferredcites →https://doi.org/10.1093/cercor/bhn206openalex-snapshot
Electrical Excitability of Early Neurons in the Human Cerebral Cortex during the Second Trimester of Gestation
inferredcites →https://doi.org/10.1093/hmg/10.23.2687openalex-snapshot
The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A
inferredcites →https://doi.org/10.1093/hmg/ddm245openalex-snapshot
Status of genomic imprinting in human embryonic stem cells as revealed by a large cohort of independently derived and maintained lines
inferredcites →https://doi.org/10.1093/hmg/ddp263openalex-snapshot
A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism
inferredcites →https://doi.org/10.1093/nar/gkh322openalex-snapshot
Influence of in vitro manipulation on the stability of methylation patterns in the Snurf/Snrpn-imprinting region in mouse embryonic stem cells
inferredcites →https://doi.org/10.1095/biolreprod59.4.871openalex-snapshot
Factors Affecting Meiotic and Developmental Competence of Primary Spermatocyte Nuclei Injected into Mouse Oocytes1
inferredcites →https://doi.org/10.1101/gr.6609207openalex-snapshot
Gene-specific vulnerability to imprinting variability in human embryonic stem cell lines
inferredcites →https://doi.org/10.1126/science.1151526openalex-snapshot
Induced Pluripotent Stem Cell Lines Derived from Human Somatic Cells
inferredcites →https://doi.org/10.1136/jmg.38.12.834openalex-snapshot
Distinct phenotypes distinguish the molecular classes of Angelman syndrome
inferredcites →https://doi.org/10.1523/jneurosci.4562-06.2007openalex-snapshot
Functional Neural Development from Human Embryonic Stem Cells: Accelerated Synaptic Activity via Astrocyte Coculture
inferredcites →https://doi.org/10.1634/stemcells.2006-0707openalex-snapshot
Directed Neural Differentiation of Human Embryonic Stem Cells via an Obligated Primitive Anterior Stage
inferredcites →https://doi.org/10.1634/stemcells.2008-0102openalex-snapshot
Polycomb Repressive Complex 2 Is Dispensable for Maintenance of Embryonic Stem Cell Pluripotency

What points at this work

Incoming claims: where this work appears in other papers’ reference lists and arguments.

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Multi‐omics analysis reveals multiple mechanisms causing Prader–Willi like syndrome in a family with a X;15 translocation
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Neuronal chromatin dynamics of imprinting in development and disease
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Concise Review: Deciphering the Mechanism Behind Induced Pluripotent Stem Cell Generation
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RNAs of the human chromosome 15q11‐q13 imprinted region
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Box C/D small nucleolar RNA genes and the Prader‐Willi syndrome: a complex interplay
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Roles of Long Non-coding RNAs in Genomic Imprinting
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Human-Derived Neurons and Neural Progenitor Cells in High Content Imaging Applications
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Three-Dimensional In Vitro Brain Tissue Models
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Current Status of Induced Pluripotent Stem Cells
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Mechanism of MicroRNA-Mediated Global DNA Demethylation in Human iPS Cells
inferred← citeshttps://doi.org/10.1007/978-1-62703-011-3_2openalex-snapshot
Derivation of Induced Pluripotent Stem Cells by Retroviral Gene Transduction in Mammalian Species
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Modeling Neurodevelopmental Deficits in Tuberous Sclerosis Complex with Stem Cell Derived Neural Precursors and Neurons
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IPSC Models of Chromosome 15Q Imprinting Disorders: From Disease Modeling to Therapeutic Strategies
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Stem Cells to Understand the Pathophysiology of Autism Spectrum Disorders
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Role of Innate Immune Signaling in Nuclear Reprogramming
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Stem Cell Technology for (Epi)genetic Brain Disorders
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Introduction
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mTORC1–S6K1 inhibition or mTORC2 activation improves hippocampal synaptic plasticity and learning in Angelman syndrome mice
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Recommendations for the investigation of animal models of Prader–Willi syndrome
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From first report to clinical trials: a bibliometric overview and visualization of the development of Angelman syndrome research
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Autism spectrum disorders and disease modeling using stem cells
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Cellular Reprogramming: A New Technology Frontier in Pharmaceutical Research
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Angelman syndrome: advancing the research frontier of neurodevelopmental disorders
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The neurobiology of mouse models syntenic to human chromosome 15q
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Using Patient-Derived Induced Pluripotent Stem Cells to Model and Treat Epilepsies
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Modeling Neurodevelopmental Disorders Using Human Pluripotent Stem Cells
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Epigenetic Mistakes in Neurodevelopmental Disorders
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An Experimental Approach to the Generation of Human Embryonic Stem Cells Equivalents
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Epigenetics, Autism Spectrum, and Neurodevelopmental Disorders
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The Use of Induced Pluripotent Stem Cell Technology to Advance Autism Research and Treatment
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Emerging Gene and Small Molecule Therapies for the Neurodevelopmental Disorder Angelman Syndrome
inferred← citeshttps://doi.org/10.1007/s40883-025-00388-yopenalex-snapshot
Correlation in Stem Cell Technology, Tissue Engineering, and Regenerative Medicine
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Stem Cell Epigenetics and Human Disease
inferred← citeshttps://doi.org/10.1016/b978-0-12-398358-9.00030-6openalex-snapshot
Induced Pluripotent Stem Cells
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DNA Methylation in Stem Cell Diseases
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Brain in a Dish
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Genetic Epilepsy Modeling With Human Pluripotent Stem Cells
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Stem Cell Epigenetics and Human Disease
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Induced pluripotent stem cells for modeling Angelman syndrome
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Transflammation: Innate immune signaling in nuclear reprogramming
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Manipulating cell fate while confronting reproducibility concerns
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Psychiatry in a Dish: Stem Cells and Brain Organoids Modeling Autism Spectrum Disorders
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Integrative Analysis Identifies Key Molecular Signatures Underlying Neurodevelopmental Deficits in Fragile X Syndrome
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Hyperexcitable Phenotypes in Induced Pluripotent Stem Cell–Derived Neurons From Patients With 15q11-q13 Duplication Syndrome, a Genetic Form of Autism
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A NOTCH2 pathogenic variant and HES1 regulate osteoclastogenesis in induced pluripotent stem cells
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Modeling autism spectrum disorders with human neurons
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Reprogramming Cellular Identity for Regenerative Medicine
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X-Inactivation, Imprinting, and Long Noncoding RNAs in Health and Disease
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iPSC-Derived Dopamine Neurons Reveal Differences between Monozygotic Twins Discordant for Parkinson’s Disease
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Modeling neurodevelopmental disorders using human neurons
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Modeling developmental neuropsychiatric disorders with iPSC technology: challenges and opportunities
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Modeling complex neuropsychiatric disorders with human induced pluripotent stem cells
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UBE3A deficiency-induced autophagy is associated with activation of AMPK-ULK1 and p53 pathways
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The serotonin receptor 7 as an emerging target to restore altered neuroplasticity in Angelman syndrome
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Impact of induced pluripotent stem cells on the study of central nervous system disease
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New lessons learned from disease modeling with induced pluripotent stem cells
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Variability of human pluripotent stem cell lines
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Inhibition of acid or neutral sphingomyelinases differentially impacts RNA and protein cargo sorting to extracellular vesicles
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Transcriptomics analysis of iPSC-derived neurons and modeling of neuropsychiatric disorders
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Application of induced pluripotent stem cells in epilepsy
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Modeling rare diseases with induced pluripotent stem cell technology
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Cellular reprogramming: a novel tool for investigating autism spectrum disorders
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iPSC-derived neurons as a higher-throughput readout for autism: promises and pitfalls
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Cellular Models and High-Throughput Screening for Genetic Causality of Intellectual Disability
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Epigenetics of cell fate reprogramming and its implications for neurological disorders modelling
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The use of iPSC technology for modeling Autism Spectrum Disorders
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Multiscale spatio-temporal dynamics of UBE3A gene in brain physiology and neurodevelopmental disorders
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Publisher's note
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Repint of “Reframing autism as a behavioral syndrome and not a specific mental disorder: Implications of genetic and phenotypic heterogeneity”
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Patient-derived iPSC modeling of rare neurodevelopmental disorders: Molecular pathophysiology and prospective therapies
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Neuronal differentiation defects in induced pluripotent stem cells derived from a Prader-Willi syndrome patient
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Constructing and Deconstructing Stem Cell Models of Neurological Disease
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“Seq-ing” Insights into the Epigenetics of Neuronal Gene Regulation
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Enhancement of synaptic plasticity and reversal of impairments in motor and cognitive functions in a mouse model of Angelman Syndrome by a small neurogenic molecule, NSI-189
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Stem cells: A path towards improved epilepsy therapies
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Significance of epigenetics for understanding brain development, brain evolution and behaviour
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Growth hormone treatment for Prader-Willi syndrome: A review
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Modeling placental development and disease using human pluripotent stem cells
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Neural differentiation of patient specific iPS cells as a novel approach to study the pathophysiology of multiple sclerosis
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Induced pluripotent stem cells (iPSC) created from skin fibroblasts of patients with Prader-Willi syndrome (PWS) retain the molecular signature of PWS
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Abnormal DNA methylation in pluripotent stem cells from a patient with Prader-Willi syndrome results in neuronal differentiation defects
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Modelling acute glucocorticoid transcriptome response in human embryonic stem cell derived neural cultures
inferred← citeshttps://doi.org/10.1016/j.scr.2024.103454openalex-snapshot
Generation of three iPSC lines with inducible systems to be used in Angelman syndrome research
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Impaired proteostasis in rare neurological diseases
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Genetic and Epigenetic Variations in iPSCs: Potential Causes and Implications for Application
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Super-Obese Patient-Derived iPSC Hypothalamic Neurons Exhibit Obesogenic Signatures and Hormone Responses
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Methylation and Transcripts Expression at the Imprinted GNAS Locus in Human Embryonic and Induced Pluripotent Stem Cells and Their Derivatives
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Human Cerebral Organoids Reveal Early Spatiotemporal Dynamics and Pharmacological Responses of UBE3A
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Gene reactivation upon erosion of X chromosome inactivation in female hiPSCs is predictable yet variable and persists through differentiation
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Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes
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Secreted retrovirus-like GAG-domain-containing protein PEG10 is regulated by UBE3A and is involved in Angelman syndrome pathophysiology
inferred← citeshttps://doi.org/10.1016/j.ymthe.2023.01.013openalex-snapshot
Transcriptional reprogramming restores UBE3A brain-wide and rescues behavioral phenotypes in an Angelman syndrome mouse model
inferred← citeshttps://doi.org/10.1017/cbo9780511777271.013openalex-snapshot
Epigenetic stability of human pluripotent stem cells
inferred← citeshttps://doi.org/10.1017/cbo9780511777271.035openalex-snapshot
Epigenetic regulation in human neurodevelopmental disorders including autism, Rett syndrome, and epilepsy
inferred← citeshttps://doi.org/10.1017/cbo9780511997839.004openalex-snapshot
Induced pluripotent stem cells
inferred← citeshttps://doi.org/10.1017/cbo9781107360556.010openalex-snapshot
Social dysfunction and mental retardation
inferred← citeshttps://doi.org/10.1017/cbo9781107360556.019openalex-snapshot
Prader–Willi and Angelman syndromes
inferred← citeshttps://doi.org/10.1038/aps.2013.21openalex-snapshot
iPSCs and small molecules: a reciprocal effort towards better approaches for drug discovery
inferred← citeshttps://doi.org/10.1038/aps.2013.63openalex-snapshot
Disease modeling and drug screening for neurological diseases using human induced pluripotent stem cells
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Recapitulation of spinal motor neuron-specific disease phenotypes in a human cell model of spinal muscular atrophy
inferred← citeshttps://doi.org/10.1038/ejhg.2011.131openalex-snapshot
iPS cells to model CDKL5-related disorders
inferred← citeshttps://doi.org/10.1038/ejhg.2014.81openalex-snapshot
GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells
inferred← citeshttps://doi.org/10.1038/emm.2013.124openalex-snapshot
Implications and limitations of cellular reprogramming for psychiatric drug development
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Induced pluripotent stem cells as a next-generation biomedical interface
inferred← citeshttps://doi.org/10.1038/labinvest.2014.104openalex-snapshot
A practical guide to induced pluripotent stem cell research using patient samples
inferred← citeshttps://doi.org/10.1038/mt.2015.236openalex-snapshot
Protein Delivery of an Artificial Transcription Factor Restores Widespread Ube3a Expression in an Angelman Syndrome Mouse Brain
inferred← citeshttps://doi.org/10.1038/nature12504openalex-snapshot
Topoisomerases facilitate transcription of long genes linked to autism
inferred← citeshttps://doi.org/10.1038/ncb0511-497openalex-snapshot
Harnessing the potential of induced pluripotent stem cells for regenerative medicine
inferred← citeshttps://doi.org/10.1038/ncomms15038openalex-snapshot
Disrupted neuronal maturation in Angelman syndrome-derived induced pluripotent stem cells
inferred← citeshttps://doi.org/10.1038/ng.2968openalex-snapshot
The noncoding RNA IPW regulates the imprinted DLK1-DIO3 locus in an induced pluripotent stem cell model of Prader-Willi syndrome
inferred← citeshttps://doi.org/10.1038/nm.4257openalex-snapshot
Targeting the histone methyltransferase G9a activates imprinted genes and improves survival of a mouse model of Prader–Willi syndrome
inferred← citeshttps://doi.org/10.1038/nn.3944openalex-snapshot
Reprogramming patient-derived cells to study the epilepsies
inferred← citeshttps://doi.org/10.1038/nn.4420openalex-snapshot
Lessons learned from studying syndromic autism spectrum disorders
inferred← citeshttps://doi.org/10.1038/nrm.2015.27openalex-snapshot
Pluripotent stem cells in disease modelling and drug discovery
inferred← citeshttps://doi.org/10.1038/s12276-018-0129-7openalex-snapshot
Genomics in neurodevelopmental disorders: an avenue to personalized medicine
inferred← citeshttps://doi.org/10.1038/s41467-024-49788-8openalex-snapshot
Ube3a unsilencer for the potential treatment of Angelman syndrome
inferred← citeshttps://doi.org/10.1038/s41572-023-00443-4openalex-snapshot
Imprinting disorders
inferred← citeshttps://doi.org/10.1038/s41582-022-00723-9openalex-snapshot
Human cerebral organoids — a new tool for clinical neurology research
inferred← citeshttps://doi.org/10.1038/s41598-021-85923-xopenalex-snapshot
Evaluation of UBE3A antibodies in mice and human cerebral organoids
inferred← citeshttps://doi.org/10.1038/s41598-023-45769-xopenalex-snapshot
Contextual fear memory impairment in Angelman syndrome model mice is associated with altered transcriptional responses
inferred← citeshttps://doi.org/10.1038/s41598-026-57826-2openalex-snapshot
A patient-specific induced pluripotent stem cell and neural stem cell resource for angelman syndrome with 15q11.2-q13 deletion
inferred← citeshttps://doi.org/10.1038/s42003-025-08262-xopenalex-snapshot
Loss of UBE3A impacts both neuronal and non-neuronal cells in human cerebral organoids
inferred← citeshttps://doi.org/10.1038/s42003-026-11008-yopenalex-snapshot
Stem-cell modeling of cerebellar dysfunction of Angelman syndrome
inferred← citeshttps://doi.org/10.1038/srep06445openalex-snapshot
Differential regulation of non-protein coding RNAs from Prader-Willi Syndrome locus
inferred← citeshttps://doi.org/10.1038/srep25368openalex-snapshot
RBFOX1 and RBFOX2 are dispensable in iPSCs and iPSC-derived neurons and do not contribute to neural-specific paternal UBE3A silencing
inferred← citeshttps://doi.org/10.1038/srep30792openalex-snapshot
Angelman syndrome-derived neurons display late onset of paternal UBE3A silencing
inferred← citeshttps://doi.org/10.1039/9781782620136-00162openalex-snapshot
Utility of Human Stem Cells for Drug Discovery
inferred← citeshttps://doi.org/10.1042/bst20130194openalex-snapshot
Induced pluripotent stem cell (iPSC)-derived dopaminergic models of Parkinson's disease
inferred← citeshttps://doi.org/10.1055/a-2399-0191openalex-snapshot
Precision Medicine in Angelman Syndrome
inferred← citeshttps://doi.org/10.1073/pnas.1815279116openalex-snapshot
A bipartite boundary element restricts UBE3A imprinting to mature neurons
inferred← citeshttps://doi.org/10.1073/pnas.1908762116openalex-snapshot
Mutations in thyroid hormone receptor α1 cause premature neurogenesis and progenitor cell depletion in human cortical development
inferred← citeshttps://doi.org/10.1074/jbc.m112.408211openalex-snapshot
Enhanced Aggregation of Androgen Receptor in Induced Pluripotent Stem Cell-derived Neurons from Spinal and Bulbar Muscular Atrophy
inferred← citeshttps://doi.org/10.1080/10985549.2025.2470431openalex-snapshot
The Ubiquitin E3 Ligase UBE3A Regulates GRIPAP1 and PACSIN1 Proteins Linked to the Endocytic Recycling of AMPA Receptors
inferred← citeshttps://doi.org/10.1080/15384101.2016.1196305openalex-snapshot
Reprogramming strategies for the establishment of novel human cancer models
inferred← citeshttps://doi.org/10.1080/15592294.2016.1214783openalex-snapshot
The Drosophila melanogaster homolog of UBE3A is not imprinted in neurons
inferred← citeshttps://doi.org/10.1080/15592294.2020.1823160openalex-snapshot
Imprinting analysis by droplet digital PCR coupled with locked nucleic acid TaqMan probes
inferred← citeshttps://doi.org/10.1080/15592294.2020.1861172openalex-snapshot
Derivation and investigation of the first human cell-based model of Beckwith-Wiedemann syndrome
inferred← citeshttps://doi.org/10.1089/ars.2017.7364openalex-snapshot
Transflammation: How Innate Immune Activation and Free Radicals Drive Nuclear Reprogramming
inferred← citeshttps://doi.org/10.1089/scd.2014.0531openalex-snapshot
Induced Pluripotent Stem Cell Models to Enable In Vitro Models for Screening in the Central Nervous System
inferred← citeshttps://doi.org/10.1089/scd.2015.0044openalex-snapshot
Advances in Reprogramming-Based Study of Neurologic Disorders
inferred← citeshttps://doi.org/10.1093/hmg/ddaa191openalex-snapshot
Abundance and localization of human UBE3A protein isoforms
inferred← citeshttps://doi.org/10.1093/hmg/ddaa210openalex-snapshot
Specific ZNF274 binding interference at SNORD116 activates the maternal transcripts in Prader-Willi syndrome neurons
inferred← citeshttps://doi.org/10.1093/hmg/ddac207openalex-snapshot
Inference of putative cell-type-specific imprinted regulatory elements and genes during human neuronal differentiation
inferred← citeshttps://doi.org/10.1093/hmg/ddr394openalex-snapshot
Modeling familial Alzheimer's disease with induced pluripotent stem cells
inferred← citeshttps://doi.org/10.1093/hmg/ddr577openalex-snapshot
ES cell differentiation system recapitulates the establishment of imprinted gene expression in a cell-type-specific manner
inferred← citeshttps://doi.org/10.1093/hmg/ddt628openalex-snapshot
Imprinted expression of UBE3A in non-neuronal cells from a Prader–Willi syndrome patient with an atypical deletion
inferred← citeshttps://doi.org/10.1093/hmg/ddu071openalex-snapshot
Induced pluripotent stem cells as a model for telomeric abnormalities in ICF type I syndrome
inferred← citeshttps://doi.org/10.1093/hmg/ddu187openalex-snapshot
Reactivation of maternal SNORD116 cluster via SETDB1 knockdown in Prader-Willi syndrome iPSCs
inferred← citeshttps://doi.org/10.1093/hmg/ddw209openalex-snapshot
Disease modelling using human iPSCs
inferred← citeshttps://doi.org/10.1093/hmg/ddx420openalex-snapshot
Zinc finger protein 274 regulates imprinted expression of transcripts in Prader-Willi syndrome neurons
inferred← citeshttps://doi.org/10.1093/hmg/ddy274openalex-snapshot
Loss of hierarchical imprinting regulation at the Prader–Willi/Angelman syndrome locus in human iPSCs
inferred← citeshttps://doi.org/10.1093/hmg/ddy345openalex-snapshot
A mouse model of Angelman syndrome imprinting defects
inferred← citeshttps://doi.org/10.1093/humrep/deu358openalex-snapshot
Differentiation of primordial germ cells from induced pluripotent stem cells of primary ovarian insufficiency
inferred← citeshttps://doi.org/10.1093/med/9780198713005.003.0028openalex-snapshot
Genetics of autism spectrum disorders
inferred← citeshttps://doi.org/10.1093/nar/gkz1140openalex-snapshot
Functional diversity of small nucleolar RNAs
inferred← citeshttps://doi.org/10.1097/fjc.0b013e318247f642openalex-snapshot
Induced Pluripotent Stem Cells as a Disease Modeling and Drug Screening Platform
inferred← citeshttps://doi.org/10.1098/rsob.200195openalex-snapshot
Prader-Willi syndrome: reflections on seminal studies and future therapies
inferred← citeshttps://doi.org/10.1098/rsob.240371openalex-snapshot
Footprints in the Sno: investigating the cellular and molecular mechanisms of SNORD116
inferred← citeshttps://doi.org/10.1101/2021.07.09.451826openalex-snapshot
Antisense oligonucleotides targeting UBE3A-ATS restore expression of UBE3A by relieving transcriptional interference
inferred← citeshttps://doi.org/10.1101/2021.08.13.456299openalex-snapshot
Insulin-like growth factor-2 does not improve behavioral deficits in mouse and rat models of Angelman Syndrome
inferred← citeshttps://doi.org/10.1101/2021.10.04.463060openalex-snapshot
Inference of cell-type specific imprinted regulatory elements and genes during human neuronal differentiation
inferred← citeshttps://doi.org/10.1101/2024.03.15.585169openalex-snapshot
Erosion of X-Chromosome Inactivation in female hiPSCs is heterogeneous and persists during differentiation
inferred← citeshttps://doi.org/10.1101/2024.09.29.615689openalex-snapshot
UBE3A reinstatement restores behavior and proteome in an Angelman Syndrome mouse model of Imprinting Defects
inferred← citeshttps://doi.org/10.1101/640938openalex-snapshot
Small molecule inhibitors of G9a reactivate the maternal PWS genes in Prader-Willi-Syndrome patient derived neural stem cells and differentiated neurons
inferred← citeshttps://doi.org/10.1111/age.13023openalex-snapshot
Brain‐specific monoallelic expression of bovine UBE3A is associated with genomic position
inferred← citeshttps://doi.org/10.1111/cga.12206openalex-snapshot
Changeability of the fully methylated status of the 15q11.2 region in induced pluripotent stem cells derived from a patient with Prader‐Willi syndrome
inferred← citeshttps://doi.org/10.1111/dmcn.14831openalex-snapshot
UBE3A reinstatement as a disease‐modifying therapy for Angelman syndrome
inferred← citeshttps://doi.org/10.1111/febs.15258openalex-snapshot
Angelman syndrome: a journey through the brain
inferred← citeshttps://doi.org/10.1111/j.1530-0277.2012.01792.xopenalex-snapshot
Pilot Study of i PS ‐Derived Neural Cells to Examine Biologic Effects of Alcohol on Human Neurons In Vitro
inferred← citeshttps://doi.org/10.1111/jcmm.12839openalex-snapshot
hi PSC ‐derived iMSC s: NextGen MSC s as an advanced therapeutically active cell resource for regenerative medicine
inferred← citeshttps://doi.org/10.1126/science.aag3260openalex-snapshot
Integration of CpG-free DNA induces de novo methylation of CpG islands in pluripotent stem cells
inferred← citeshttps://doi.org/10.1126/science.aav5386openalex-snapshot
Potassium channel dysfunction in human neuronal models of Angelman syndrome
inferred← citeshttps://doi.org/10.1126/scitranslmed.abf4077openalex-snapshot
An ASO therapy for Angelman syndrome that targets an evolutionarily conserved region at the start of the UBE3A-AS transcript
inferred← citeshttps://doi.org/10.1134/s0026893321050149openalex-snapshot
Epigenetic Regulation Disturbances on Gene Expression in Imprinting Diseases
inferred← citeshttps://doi.org/10.1136/amiajnl-2012-001563openalex-snapshot
A literature search tool for intelligent extraction of disease-associated genes
inferred← citeshttps://doi.org/10.1155/2011/350131openalex-snapshot
Modeling Neurological Disorders by Human Induced Pluripotent Stem Cells
inferred← citeshttps://doi.org/10.1155/2012/172564openalex-snapshot
Toward Personalized Cell Therapies by Using Stem Cells
inferred← citeshttps://doi.org/10.1155/2012/346053openalex-snapshot
Induced Pluripotent Stem Cells to Model and Treat Neurogenetic Disorders
inferred← citeshttps://doi.org/10.1155/2012/423868openalex-snapshot
The Promise of Human Induced Pluripotent Stem Cells in Dental Research
inferred← citeshttps://doi.org/10.1155/2012/710943openalex-snapshot
Understanding the Pathogenesis of Angelman Syndrome through Animal Models
inferred← citeshttps://doi.org/10.1155/2012/850201openalex-snapshot
Advances in Induced Pluripotent Stem Cell Technologies
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