(Q34140440)

31 July 2017

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

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31 July 2017

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Stormy J Chamberlain

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31 July 2017

Pin-Fang Chen

2

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31 July 2017

Khong Y Ng

3

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31 July 2017

Fany Bourgois-Rocha

4

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31 July 2017

Fouad Lemtiri-Chlieh

5

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31 July 2017

Eric S Levine

6

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31 July 2017

Marc Lalande

7

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31 July 2017

language of work or name

English

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publication date

27 September 2010

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Proceedings of the National Academy of Sciences of the United States of America

31 July 2017

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31 July 2017

107

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31 July 2017

41

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31 July 2017

17668-17673

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describes a project that uses

31 July 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955112

Differential modeling of fragile X syndrome by human embryonic stem cells and induced pluripotent stem cells

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955112

The Angelman Syndrome protein Ube3A regulates synapse development by ubiquitinating arc.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955112

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955112

Clone- and gene-specific aberrations of parental imprinting in human induced pluripotent stem cells

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955112

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955112

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955112

Electrical excitability of early neurons in the human cerebral cortex during the second trimester of gestation.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955112

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955112

Induced pluripotent stem cell lines derived from human somatic cells

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955112

Gene-specific vulnerability to imprinting variability in human embryonic stem cell lines

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955112

Status of genomic imprinting in human embryonic stem cells as revealed by a large cohort of independently derived and maintained lines

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955112

Functional neural development from human embryonic stem cells: accelerated synaptic activity via astrocyte coculture.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955112

Directed neural differentiation of human embryonic stem cells via an obligated primitive anterior stage.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955112

Differential effects of endocannabinoids on glutamatergic and GABAergic inputs to layer 5 pyramidal neurons

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955112

Influence of in vitro manipulation on the stability of methylation patterns in the Snurf/Snrpn-imprinting region in mouse embryonic stem cells

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955112

Distinct phenotypes distinguish the molecular classes of Angelman syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955112

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955112

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955112

Mechanisms of genomic imprinting

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955112

Factors affecting meiotic and developmental competence of primary spermatocyte nuclei injected into mouse oocytes.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955112

Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955112

Methylation-specific PCR: a novel PCR assay for methylation status of CpG islands

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955112

Angelman syndrome 2005: updated consensus for diagnostic criteria.

5 July 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1004487107

21 January 2018

Prader-Willi syndrome.

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1004487107

The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1004487107

Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1004487107

The Prader-Willi syndrome imprinting center activates the paternally expressed murine Ube3a antisense transcript but represses paternal Ube3a.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1004487107

Maternal primary imprinting is established at a specific time for each gene throughout oocyte growth

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1004487107

Maternal methylation imprints on human chromosome 15 are established during or after fertilization.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1004487107

Polycomb repressive complex 2 is dispensable for maintenance of embryonic stem cell pluripotency

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1004487107

Prader-Willi and Angelman syndromes: diagnosis with a bisulfite-treated methylation-specific PCR method

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955112

An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20876107

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Pluripotent stem cells and disease modeling

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20876107

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.1004487107

1 reference

release_bhp5qovx5ncjjol6cc3o5yta2y

31 July 2017

0 references

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/bhp5qovx5ncjjol6cc3o5yta2y

mapped directly with Wikidata item

24 November 2022

based on heuristic

PMCID

2955112

1 reference

31 July 2017

1 reference