(Q24644175)

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A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10393948%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome (English)

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9 December 2019

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Beckwith-Wiedemann syndrome

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6

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9 December 2019

10

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9 December 2019

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N J Smilinich

1

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9 December 2019

C D Day

2

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9 December 2019

G V Fitzpatrick

3

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9 December 2019

G M Caldwell

4

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9 December 2019

A C Lossie

5

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9 December 2019

A C Smallwood

7

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9 December 2019

J A Joyce

8

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9 December 2019

P N Schofield

9

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9 December 2019

R D Nicholls

11

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9 December 2019

R Weksberg

12

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9 December 2019

D J Driscoll

13

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9 December 2019

E R Maher

14

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9 December 2019

T B Shows

15

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9 December 2019

M J Higgins

16

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9 December 2019

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1 July 1999

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9 December 2019

number of pages

6

1 reference

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

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Europe PubMed Central

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9 December 2019

96

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Europe PubMed Central

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9 December 2019

14

1 reference

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9 December 2019

8064-8069

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10393948%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

Imprinting mutation in the Beckwith-Wiedemann syndrome leads to biallelic IGF2 expression through an H19-independent pathway

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22188

7 April 2017

Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22188

7 April 2017

Disruption of imprinting caused by deletion of the H19 gene region in mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22188

7 April 2017

Role for DNA methylation in genomic imprinting

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22188

7 April 2017

Imprinting-mutation mechanisms in Prader-Willi syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22188

27 September 2017

The imprinted domain in mouse distal Chromosome 7: reagents for mutagenesis and sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22188

27 September 2017

Deletion of the H19 differentially methylated domain results in loss of imprinted expression of H19 and Igf2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22188

27 September 2017

A model system to study genomic imprinting of human genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22188

27 September 2017

Multiple mechanisms regulate imprinting of the mouse distal chromosome 7 gene cluster

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22188

27 September 2017

Location of enhancers is essential for the imprinting of H19 and Igf2 genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22188

27 September 2017

Competition--a common motif for the imprinting mechanism?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22188

27 September 2017

Multiple imprinted sense and antisense transcripts, differential methylation and tandem repeats in a putative imprinting control region upstream of mouse Igf2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22188

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22188

27 September 2017

A 5' 2-kilobase-pair region of the imprinted mouse H19 gene exhibits exclusive paternal methylation throughout development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22188

27 September 2017

Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22188

27 September 2017

Parental imprinting and human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22188

27 September 2017

Genomic imprinting: control of gene expression by epigenetic inheritance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22188

27 September 2017

Imprinting: a gamete's point of view

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22188

27 September 2017

Epigenetic changes encompassing the IGF2/H19 locus associated with relaxation of IGF2 imprinting and silencing of H19 in Wilms tumor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22188

27 September 2017

Polymerase chain reaction (PCR) for detection of APal polymorphism at the insulin like growth factor II gene (IGF2)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22188

27 September 2017

Imprinting mechanisms.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22188

30 May 2018

Syntenic organization of the mouse distal chromosome 7 imprinting cluster and the Beckwith-Wiedemann syndrome region in chromosome 11p15.5.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22188

30 May 2018

A methylation imprint mark in the mouse imprinted gene Grf1/Cdc25Mm locus shares a common feature with the U2afbp-rs gene: an association with a short tandem repeat and a hypermethylated region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22188

30 May 2018

The pre-implantation ontogeny of the H19 methylation imprint

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22188

30 May 2018

An oocyte-specific methylation imprint center in the mouse U2afbp-rs/U2af1-rs1 gene marks the establishment of allele-specific methylation during preimplantation development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22188

30 May 2018

Imprinting in clusters: lessons from Beckwith-Wiedemann syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22188

30 May 2018

Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22188

30 May 2018

Strain-dependent developmental relaxation of imprinting of an endogenous mouse gene, Kvlqt1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22188

28 November 2018

Structure and function correlations at the imprinted mouse Snrpn locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22188

28 November 2018

A catalogue of imprinted genes and parent-of-origin effects in humans and animals.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22188

28 November 2018

Imprinting in Prader-Willi and Angelman syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22188

28 November 2018

Imprinting and the initiation of gene silencing in the germ line.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22188

28 November 2018

Imprinting of mouse Kvlqt1 is developmentally regulated.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22188

28 November 2018

Imprinted expression of the Igf2r gene depends on an intronic CpG island.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22188

28 November 2018

Imprinting of IGF2 and H19: lack of reciprocity in sporadic Beckwith-Wiedemann syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22188

28 November 2018

Human KVLQT1 gene shows tissue-specific imprinting and encompasses Beckwith-Wiedemann syndrome chromosomal rearrangements.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22188

28 November 2018

Imprinting mutations in the Beckwith-Wiedemann syndrome suggested by altered imprinting pattern in the IGF2-H19 domain.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22188

28 November 2018

Maternal-specific methylation of the imprinted mouse Igf2r locus identifies the expressed locus as carrying the imprinting signal.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22188

28 November 2018

Relaxation of imprinted genes in human cancer.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22188

28 November 2018

Genetic imprinting in the mouse: implications for gene regulation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22188

28 November 2018

Sex difference in methylation of single-copy genes in human meiotic germ cells: Implications for X chromosome inactivation, parental imprinting, and origin of CpG mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22188

28 November 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/10393948

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Localization of Beckwith-Wiedemann and rhabdoid tumor chromosome rearrangements to a defined interval in chromosome band 11p15.5.

1 reference

https://pubmed.ncbi.nlm.nih.gov/10393948

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Epigenetic mechanisms underlying the imprinting of the mouse H19 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/10393948

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characteristics of imprinted genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/10393948

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Epigenetics and human disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/10393948

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A 1-Mb physical map and PAC contig of the imprinted domain in 11p15.5 that contains TAPA1 and the BWSCR1/WT2 region

1 reference

https://pubmed.ncbi.nlm.nih.gov/10393948

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Making sense or antisense?

1 reference

https://pubmed.ncbi.nlm.nih.gov/10393948

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/10393948

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular genetics of Wiedemann-Beckwith syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/10393948

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The molecular basis of long QT syndrome and prospects for therapy

1 reference

https://pubmed.ncbi.nlm.nih.gov/10393948

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Silk purse or sow's ear

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.96.14.8064

7 January 2021

based on heuristic

inferred from DOI database lookup

Dinucleotide repeat polymorphism in the human SRC gene on chromosome 20

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.96.14.8064

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1073/PNAS.96.14.8064

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10393948%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

1999PNAS...96.8064S

0 references

PMC publication ID

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10393948%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10393948%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

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