No evidence for mutations of CTCFL/BORIS in Silver-Russell syndrome patients with IGF2/H19 imprinting control region 1 hypomethylation (Q33493060)

27 July 2017

title

No evidence for mutations of CTCFL/BORIS in Silver-Russell syndrome patients with IGF2/H19 imprinting control region 1 hypomethylation (English)

1 reference

Սիլվեր-Ռասսելի համախտանիշ

27 July 2017

main subject

1 reference

based on heuristic

inferred from title

author

Jeremiah Bernier-Latmani

object named as

Jeremiah Bernier-Latmani

series ordinal

1

0 references

author name string

Alessandra Baumer

series ordinal

2

1 reference

27 July 2017

Phillip Shaw

series ordinal

3

1 reference

27 July 2017

language of work or name

English

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publication date

13 August 2009

1 reference

27 July 2017

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27 July 2017

volume

4

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27 July 2017

issue

8

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27 July 2017

page(s)

e6631

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Creative Commons Attribution 4.0 International

27 July 2017

copyright license

start time

13 August 2009

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

PRMT5-mediated methylation of histone H4R3 recruits DNMT3A, coupling histone and DNA methylation in gene silencing.

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Chromatin insulators: regulatory mechanisms and epigenetic inheritance

21 June 2018

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Growth retardation versus overgrowth: Silver-Russell syndrome is genetically opposite to Beckwith-Wiedemann syndrome

21 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2721151

The genetic aetiology of Silver-Russell syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2721151

Expression of the CTCF-paralogous cancer-testis gene, brother of the regulator of imprinted sites (BORIS), is regulated by three alternative promoters modulated by CpG methylation and by CTCF and p53 transcription factors

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2721151

The testis-specific factor CTCFL cooperates with the protein methyltransferase PRMT7 in H19 imprinting control region methylation

21 June 2018

1 reference

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Minigene reporter for identification and analysis of cis elements and trans factors affecting pre-mRNA splicing

21 June 2018

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Essential role for de novo DNA methyltransferase Dnmt3a in paternal and maternal imprinting

21 June 2018

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DNMT3L stimulates the DNA methylation activity of Dnmt3a and Dnmt3b through a direct interaction

21 June 2018

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ESEfinder: A web resource to identify exonic splicing enhancers

21 June 2018

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Searching for genomic variants in the MESTIT1 transcript in Silver-Russell syndrome patients

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2721151

CTCF maintains differential methylation at the Igf2/H19 locus

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2721151

BORIS, a novel male germ-line-specific protein associated with epigenetic reprogramming events, shares the same 11-zinc-finger domain with CTCF, the insulator protein involved in reading imprinting marks in the soma

21 June 2018

1 reference

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Dnmt3L cooperates with the Dnmt3 family of de novo DNA methyltransferases to establish maternal imprints in mice

21 June 2018

1 reference

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No evidence of PEG1/MEST gene mutations in Silver-Russell syndrome patients

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2721151

CTCF mediates methylation-sensitive enhancer-blocking activity at the H19/Igf2 locus

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2721151

Improved splice site detection in Genie

21 June 2018

1 reference

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High-efficiency transformation of mammalian cells by plasmid DNA

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2721151

Parental imprinting of the mouse insulin-like growth factor II gene.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2721151

Parental imprinting of the mouse H19 gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2721151

Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome

21 June 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0006631

Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0006631

Clinically distinct epigenetic subgroups in Silver-Russell syndrome: the degree of H19 hypomethylation associates with phenotype severity and genital and skeletal anomalies

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0006631

Characterization of genomic variants in CSH1 and GH2, two candidate genes for Silver-Russell syndrome in 17q24-q25.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0006631

No evidence of submicroscopic deletion or segmental uniparental disomy within the candidate regions 7p11.2-p13 and 7q31-qter in a series of non-uniparental disomy Silver-Russell syndrome cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0006631

Genomic characterisation of C7orf10 in Silver-Russell syndrome patients

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2721151

No evidence for isolated imprinting mutations in the PEG1/MEST locus in Silver-Russell patients

31 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19675668

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

No evidence of dup(7)(p11.2p13) in Silver-Russell syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19675668

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0006631

1 reference

27 July 2017

0 references

1 reference

27 July 2017

1 reference