Targeted deletion of the Nesp55 DMR defines another Gnas imprinting control region and provides a mouse model of autosomal dominant PHP-Ib (Q28593878)

31 January 2017

title

Targeted deletion of the Nesp55 DMR defines another Gnas imprinting control region and provides a mouse model of autosomal dominant PHP-Ib (English)

1 reference

Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas

31 January 2017

main subject

1 reference

GOA release 2020-03-11

Harald Jüppner

1 reference

31 January 2017

Murat Bastepe

1 reference

31 January 2017

Leopold F. Fröhlich

1 reference

31 January 2017

Maria Mrakovcic

series ordinal

1 reference

31 January 2017

Ralf Steinborn

series ordinal

1 reference

31 January 2017

Ung-Il Chung

series ordinal

1 reference

31 January 2017

language of work or name

English

0 references

publication date

18 May 2010

1 reference

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

31 January 2017

published in

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31 January 2017

volume

107

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31 January 2017

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31 January 2017

page(s)

9275–9280

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Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy

31 January 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889123

Lack of Gnas epigenetic changes and pseudohypoparathyroidism type Ib in mice with targeted disruption of syntaxin-16

17 March 2017

1 reference

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A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889123

GNAS locus and pseudohypoparathyroidism

17 March 2017

1 reference

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Paternal uniparental isodisomy of chromosome 20q--and the resulting changes in GNAS1 methylation--as a plausible cause of pseudohypoparathyroidism

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889123

An imprinted transcript, antisense to Nesp, adds complexity to the cluster of imprinted genes at the mouse Gnas locus

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889123

Evolution of genomic imprinting: insights from marsupials and monotremes.

17 March 2017

1 reference

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Transcription is required for establishment of germline methylation marks at imprinted genes

29 September 2017

1 reference

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Genomic imprinting mechanisms in mammals.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889123

Physiological functions of the imprinted Gnas locus and its protein variants Galpha(s) and XLalpha(s) in human and mouse.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889123

Studies of the regulation and function of the Gs alpha gene Gnas using gene targeting technology

29 September 2017

1 reference

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A census of mammalian imprinting.

29 September 2017

1 reference

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Inherited diseases involving g proteins and g protein-coupled receptors.

29 September 2017

1 reference

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Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889123

Epigenetic properties and identification of an imprint mark in the Nesp-Gnasxl domain of the mouse Gnas imprinted locus.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889123

A GNAS1 imprinting defect in pseudohypoparathyroidism type IB

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889123

Identification of a methylation imprint mark within the mouse Gnas locus

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889123

Variable imprinting of the heterotrimeric G protein G(s) alpha-subunit within different segments of the nephron

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889123

An imprinted antisense transcript at the human GNAS1 locus

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889123

Targeting genes for self-excision in the germ line

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889123

A cluster of oppositely imprinted transcripts at the Gnas locus in the distal imprinting region of mouse chromosome 2

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889123

Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889123

The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889123

Variable and tissue-specific hormone resistance in heterotrimeric Gs protein alpha-subunit (Gsalpha) knockout mice is due to tissue-specific imprinting of the gsalpha gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889123

Differential activity of maternally and paternally derived chromosome regions in mice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889123

Imprinting control within the compact Gnas locus.

29 September 2017

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0910224107

A maternal epimutation of GNAS leads to Albright osteodystrophy and parathyroid hormone resistance.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0910224107

Cell microarrays and RNA interference chip away at gene function

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0910224107

Positional dissociation between the genetic mutation responsible for pseudohypoparathyroidism type Ib and the associated methylation defect at exon A/B: evidence for a long-range regulatory element within the imprinted GNAS1 locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0910224107

Identification of an imprinting control region affecting the expression of all transcripts in the Gnas cluster

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0910224107

Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889123

A targeted deletion upstream of Snrpn does not result in an imprinting defect

27 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/20427744

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

1 reference

https://pubmed.ncbi.nlm.nih.gov/20427744

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A cis-acting control region is required exclusively for the tissue-specific imprinting of Gnas

1 reference

https://pubmed.ncbi.nlm.nih.gov/20427744

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.0910224107

1 reference

31 January 2017

0 references

0 references

1 reference