A transgene insertion creating a heritable chromosome deletion mouse model of Prader-Willi and angelman syndromes (Q35601037)

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10 December 2019

title

A transgene insertion creating a heritable chromosome deletion mouse model of Prader-Willi and angelman syndromes (English)

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10 December 2019

2

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10 December 2019

author name string

J M Gabriel

1

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10 December 2019

T Ohta

3

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10 December 2019

Y Ji

4

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10 December 2019

R G Caldwell

5

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10 December 2019

M J Ramsey

6

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10 December 2019

J D Tucker

7

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10 December 2019

R Longnecker

8

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10 December 2019

R D Nicholls

9

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10 December 2019

language of work or name

English

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publication date

1 August 1999

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10 December 2019

number of pages

6

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

inferred from page(s)

published in

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10 December 2019

volume

96

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10 December 2019

issue

16

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10 December 2019

page(s)

9258-9263

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An imprinted, mammalian bicistronic transcript encodes two independent proteins

10 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17767

Imprinting-mutation mechanisms in Prader-Willi syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17767

Molecular mechanism of angelman syndrome in two large families involves an imprinting mutation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17767

The ancestral gene for transcribed, low-copy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17767

Insertional mutagenesis in transgenic mice generated by the pronuclear microinjection procedure.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17767

Chromosomal localization and genomic characterization of the mouse melastatin gene (Mlsn1)

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17767

Inversin, a novel gene in the vertebrate left-right axis pathway, is partially deleted in the inv mouse

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17767

A mouse model for Prader-Willi syndrome imprinting-centre mutations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17767

Mutation analysis of UBE3A in Angelman syndrome patients

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17767

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17767

The necdin gene is deleted in Prader-Willi syndrome and is imprinted in human and mouse

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17767

A candidate model for Angelman syndrome in the mouse

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17767

Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17767

Mice devoid of gamma-aminobutyrate type A receptor beta3 subunit have epilepsy, cleft palate, and hypersensitive behavior

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17767

An imprinted mouse transcript homologous to the human imprinted in Prader-Willi syndrome (IPW) gene.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17767

Mice carrying null mutations of the genes encoding insulin-like growth factor I (Igf-1) and type 1 IGF receptor (Igf1r)

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17767

Allele-specific replication timing of imprinted gene regions

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17767

Regulation of genomic imprinting by gametic and embryonic processes.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17767

Deficiency of the beta 3 subunit of the type A gamma-aminobutyric acid receptor causes cleft palate in mice.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17767

Genomic imprinting: lessons from mouse transgenes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17767

Maternal imprinting of the mouse Snrpn gene and conserved linkage homology with the human Prader-Willi syndrome region

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17767

Imprinting of a RING zinc-finger encoding gene in the mouse chromosome region homologous to the Prader-Willi syndrome genetic region

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17767

Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17767

Epstein-Barr virus LMP2A drives B cell development and survival in the absence of normal B cell receptor signals

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17767

Structure and function correlations at the imprinted mouse Snrpn locus

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17767

Imprinting in Prader-Willi and Angelman syndromes

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17767

Repeat-induced gene silencing in mammals.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17767

Peg3 imprinted gene on proximal chromosome 7 encodes for a zinc finger protein.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17767

Engineering herpes simplex virus vectors for gene transfer to neurons

26 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073/PNAS.96.16.9258

21 January 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.96.16.9258

A candidate mouse model for Prader-Willi syndrome which shows an absence of Snrpn expression

21 January 2018

1 reference

12 December 2020

Domain organization of allele-specific replication within the GABRB3 gene cluster requires a biparental 15q11-13 contribution

1 reference

12 December 2020

Homologous association of oppositely imprinted chromosomal domains

1 reference

12 December 2020

Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.96.16.9258

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10430930 AND SRC:MED&resulttype=core&format=json

10 December 2019

0 references

1 reference

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10 December 2019

PubMed publication ID

10430930

1 reference