(Q48355967)

10 February 2018

title

The SNRPN promoter is not required for genomic imprinting of the Prader-Willi/Angelman domain in mice. (English)

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10 February 2018

author name string

Bressler J

1

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10 February 2018

Tsai TF

2

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10 February 2018

Wu MY

3

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10 February 2018

Tsai SF

4

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10 February 2018

Ramirez MA

5

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10 February 2018

Armstrong D

6

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10 February 2018

Beaudet AL

7

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10 February 2018

language of work or name

English

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publication date

1 July 2001

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10 February 2018

published in

Nature Genetics

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10 February 2018

volume

28

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10 February 2018

page(s)

232-240

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10 February 2018

issue

3

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10 February 2018

https://scigraph.springernature.com/pub.10.1038/90067

exact match

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cites work

Imprinting in Prader-Willi and Angelman syndromes.

1 reference

7 January 2021

Imprinting in Angelman and Prader-Willi syndromes.

1 reference

7 January 2021

Towards a molecular understanding of Prader-Willi and Angelman syndromes

1 reference

7 January 2021

Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint

1 reference

7 January 2021

Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient

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7 January 2021

Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome

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7 January 2021

Prader-Willi syndrome is caused by disruption of the SNRPN gene

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7 January 2021

An imprinted, mammalian bicistronic transcript encodes two independent proteins

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7 January 2021

Analysis of murine Snrpn and human SNRPN gene imprinting in transgenic mice.

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7 January 2021

Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region

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7 January 2021

Structure of the imprinted mouse Snrpn gene and establishment of its parental-specific methylation pattern

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7 January 2021

Structure and function correlations at the imprinted mouse Snrpn locus.

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7 January 2021

Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15.

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7 January 2021

Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene

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7 January 2021

Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations.

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7 January 2021

Imprinting-mutation mechanisms in Prader-Willi syndrome

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7 January 2021

Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis

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7 January 2021

Imprinting moves to the centre

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7 January 2021

Mechanisms of genomic imprinting

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7 January 2021

The imprinting box of the Prader-Willi/Angelman syndrome domain

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7 January 2021

Competitive edge at the imprinted Prader-Willi/Angelman region?

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7 January 2021

De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch

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7 January 2021

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

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7 January 2021

Sequencing and functional analysis of the SNRPN promoter: in vitro methylation abolishes promoter activity

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7 January 2021

A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene.

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7 January 2021

Paternal deletion from Snrpn to Ube3a in the mouse causes hypotonia, growth retardation and partial lethality and provides evidence for a gene contributing to Prader-Willi syndrome

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7 January 2021

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

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7 January 2021

A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Small evolutionarily conserved RNA, resembling C/D box small nucleolar RNA, is transcribed from PWCR1, a novel imprinted gene in the Prader-Willi deletion region, which Is highly expressed in brain

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7 January 2021

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

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7 January 2021

Necdin-deficient mice do not show lethality or the obesity and infertility of Prader-Willi syndrome

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7 January 2021

Disruption of the mouse necdin gene results in early post-natal lethality

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7 January 2021

Disruption of the mouse Necdin gene results in hypothalamic and behavioral alterations reminiscent of the human Prader-Willi syndrome.

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7 January 2021

Genetic variation among 129 substrains and its importance for targeted mutagenesis in mice

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7 January 2021

Detection of specific sequences among DNA fragments separated by gel electrophoresis

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7 January 2021

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Recycling selectable markers in mouse embryonic stem cells

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7 January 2021

Gene targeting in embryonic stem cells

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7 January 2021

Identifiers

DOI

10.1038/90067

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10 February 2018

PubMed ID

11431693

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10 February 2018