Imprinted expression of UBE3A in non-neuronal cells from a Prader-Willi syndrome patient with an atypical deletion. - Wikidata - awgldk - TriplyDB

Imprinted expression of UBE3A in non-neuronal cells from a Prader-Willi syndrome patient with an atypical deletion.

Imprinted expression of UBE3A in non-neuronal cells from a Prader-Willi syndrome patient with an atypical deletion.

http://www.wikidata.org/entity/Q37685738

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Induced pluripotent stem cells for modeling neurological disorders Epigenetic regulation of UBE3A and roles in human neurodevelopmental disorders.Genomic imprinting does not reduce the dosage of UBE3A in neurons.Differential regulation of non-protein coding RNAs from Prader-Willi Syndrome locus.Gene expression analysis of human induced pluripotent stem cell-derived neurons carrying copy number variants of chromosome 15q11-q13.1.Reactivation of maternal SNORD116 cluster via SETDB1 knockdown in Prader-Willi syndrome iPSCs Angelman Syndrome.GABAergic Neuron-Specific Loss of Ube3a Causes Angelman Syndrome-Like EEG Abnormalities and Enhances Seizure Susceptibility.RBFOX1 and RBFOX2 are dispensable in iPSCs and iPSC-derived neurons and do not contribute to neural-specific paternal UBE3A silencing.Potential therapeutic approaches for Angelman syndrome.A practical guide to induced pluripotent stem cell research using patient samples.Pluripotent stem cells in disease modelling and drug discovery.Targeting the histone methyltransferase G9a activates imprinted genes and improves survival of a mouse model of Prader-Willi syndrome Disease modelling using human iPSCs.Box C/D small nucleolar RNA genes and the Prader-Willi syndrome: a complex interplay.Autism spectrum disorders and disease modeling using stem cells.Transflammation: Innate immune signaling in nuclear reprogramming.Hypothalamic loss of Snord116 recapitulates the hyperphagia of Prader-Willi syndrome.Enhanced Nociception in Angelman Syndrome Model Mice.Stem Cell Technology for (Epi)genetic Brain Disorders.Uncovering True Cellular Phenotypes: Using Induced Pluripotent Stem Cell-Derived Neurons to Study Early Insults in Neurodevelopmental Disorders.Transflammation: How Innate Immune Activation and Free Radicals Drive Nuclear Reprogramming

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Imprinted expression of UBE3A in non-neuronal cells from a Prader-Willi syndrome patient with an atypical deletion.

http://www.wikidata.org/entity/Q37685738

description

article científic

@ca

article scientifique

@fr

articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 20 December 2013

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Imprinted expression of UBE3A ...... ent with an atypical deletion.

@en

Imprinted expression of UBE3A ...... ent with an atypical deletion.

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type

label

Imprinted expression of UBE3A ...... ent with an atypical deletion.

@en

Imprinted expression of UBE3A ...... ent with an atypical deletion.

@nl

prefLabel

Imprinted expression of UBE3A ...... ent with an atypical deletion.

@en

Imprinted expression of UBE3A ...... ent with an atypical deletion.

@nl

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Human Molecular Genetics

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Imprinted expression of UBE3A ...... ent with an atypical deletion.

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Adam J De Smith

http://www.w3.org/2001/XMLSchema#string

Alexandra I F Blakemore

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Heather Glatt-Deeley

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Jack S Hsiao

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Kristen Martins-Taylor

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Marc Lalande

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Pin-Fang Chen

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Stormy J Chamberlain

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P2860

UBE3A/E6-AP mutations cause Angelman syndrome

Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism

Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization

Prader-Willi and Angelman syndromes: sister imprinted disorders

The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A

The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region

The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and contains an upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletion

Specification of region-specific neurons including forebrain glutamatergic neurons from human induced pluripotent stem cells

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2364-2373

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scholarly article

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10.1093/HMG/DDT628

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9

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23

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2013-12-20T00:00:00Z

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259449797

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24363065

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3976333

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