Induced pluripotent stem cell models of the genomic imprinting disorders Angelman and Prader–Willi syndromes (Q34140440)

31 July 2017

title

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

1 reference

31 July 2017

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

1 reference

DOI

10.1073/PNAS.1004487107

https://api.crossref.org/works/10.1073/PNAS.1004487107

modelling biological systems

21 July 2024

main subject

cell line

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20876107

21 July 2024

5

Fouad Lemtiri-Chlieh

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20876107

21 July 2024

6

Eric S. Levine

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20876107

21 July 2024

author name string

Pin-Fang Chen

2

1 reference

31 July 2017

Fany Bourgois-Rocha

4

1 reference

31 July 2017

Marc Lalande

7

1 reference

31 July 2017

Stormy J. Chamberlain

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20876107

21 July 2024

Khong Y. Ng

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20876107

21 July 2024

language of work or name

English

0 references

publication date

27 September 2010

1 reference

full work available at URL

31 July 2017

https://europepmc.org/articles/pmc2955112?pdf=render

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20876107

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20876107/?tool=EBI

21 July 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20876107

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20876107/pdf/?tool=EBI

21 July 2024

file format

Portable Document Format

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20876107

https://europepmc.org/articles/PMC2955112

21 July 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20876107

https://europepmc.org/articles/PMC2955112?pdf=render

21 July 2024

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20876107

https://doi.org/10.1073/pnas.1004487107

21 July 2024

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20876107

https://pnas.org/doi/pdf/10.1073/pnas.1004487107

21 July 2024

1 reference

DOI

10.1073/PNAS.1004487107

https://api.crossref.org/works/10.1073/PNAS.1004487107

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

21 July 2024

published in

1 reference

31 July 2017

volume

107

1 reference

31 July 2017

issue

41

1 reference

31 July 2017

page(s)

17668-17673

1 reference

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

PMC publication ID

2955112

1 reference

31 July 2017

1 reference