(Q35605181)

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The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases

scientific article published on 14 September 2011

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12 February 2020

The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases (English)

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12 February 2020

0 references

Beckwith-Wiedemann syndrome

1 reference

based on heuristic

inferred from title

Silver-Russell syndrome

1 reference

based on heuristic

inferred from title

Massimo Carella

5

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12 February 2020

6

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12 February 2020

Alessandro Mussa

7

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12 February 2020

8

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12 February 2020

Maria Vittoria Cubellis

12

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12 February 2020

15

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12 February 2020

Giovanni Battista Ferrero

16

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12 February 2020

Margherita Cirillo Silengo

14

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Margherita Cirillo Silengo

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12 February 2020

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Lucia Perone

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12 February 2020

Agostina De Crescenzo

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Agostina De Crescenzo

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12 February 2020

9

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Flavia Cerrato

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12 February 2020

author name string

Nicoletta Chiesa

1

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12 February 2020

Kankadeb Mishra

3

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12 February 2020

Silvia Russo

10

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12 February 2020

Elisabetta Lapi

11

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12 February 2020

Chandrasekhar Kanduri

13

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12 February 2020

publication date

14 September 2011

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12 February 2020

Human Molecular Genetics

1 reference

Europe PubMed Central

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12 February 2020

21

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12 February 2020

1

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12 February 2020

10-25

1 reference

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12 February 2020

Depletion of Kcnq1ot1 non-coding RNA does not affect imprinting maintenance in stem cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235007

27 July 2018

Genetic and epigenetic findings in Silver-Russell syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235007

27 July 2018

Kcnq1ot1 noncoding RNA mediates transcriptional gene silencing by interacting with Dnmt1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235007

27 July 2018

Genomic imprinting mechanisms in embryonic and extraembryonic mouse tissues

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235007

27 July 2018

Silver-Russell and Beckwith-Wiedemann syndromes: opposite (epi)mutations in 11p15 result in opposite clinical pictures

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235007

27 July 2018

Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235007

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235007

27 July 2018

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci 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=3235007

27 July 2018

Kcnq1ot1 antisense noncoding RNA mediates lineage-specific transcriptional silencing through chromatin-level regulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235007

27 July 2018

Kcnq1ot1/Lit1 noncoding RNA mediates transcriptional silencing by targeting to the perinucleolar region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235007

27 July 2018

Functional demarcation of active and silent chromatin domains in human HOX loci by noncoding RNAs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235007

27 July 2018

Mechanisms regulating imprinted genes in clusters.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235007

27 July 2018

Elongation of the Kcnq1ot1 transcript is required for genomic imprinting of neighboring genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235007

27 July 2018

Silencing of CDKN1C (p57KIP2) is associated with hypomethylation at KvDMR1 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=3235007

27 July 2018

Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235007

27 July 2018

A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of 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=3235007

27 July 2018

Loss of imprinting of a paternally expressed transcript, with antisense orientation to KVLQT1, occurs frequently in Beckwith-Wiedemann syndrome and is independent of insulin-like growth factor II imprinting

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235007

27 July 2018

New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235007

25 September 2018

Mammalian genomic imprinting.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235007

25 September 2018

Kcnq1ot1: a chromatin regulatory RNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235007

25 September 2018

Genomic imprinting in mammals: its life cycle, molecular mechanisms and reprogramming

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235007

25 September 2018

CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235007

25 September 2018

Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235007

25 September 2018

Phenotypic discordance upon paternal or maternal transmission of duplications of the 11p15 imprinted regions.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235007

25 September 2018

Two distinct mechanisms of silencing by the KvDMR1 imprinting control region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235007

25 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235007

25 September 2018

Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235007

25 September 2018

Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardation

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR419

21 January 2018

Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome Phenotypes Associated with 11p Duplication in a Single Family

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR419

21 January 2018

The two-domain hypothesis in Beckwith–Wiedemann syndrome: autonomous imprinting of the telomeric domain of the distal chromosome 7 cluster

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR419

21 January 2018

Molecular subtypes and phenotypic expression of Beckwith–Wiedemann syndrome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR419

21 January 2018

Mechanisms causing imprinting defects in familial Beckwith–Wiedemann syndrome with Wilms' tumour

1 reference

https://pubmed.ncbi.nlm.nih.gov/21920939

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Paternally inherited submicroscopic duplication at 11p15.5 implicates insulin-like growth factor II in overgrowth and Wilms' tumorigenesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/21920939

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

MS-MLPA is a specific and sensitive technique for detecting all chromosome 11p15.5 imprinting defects of BWS and SRS in a single-tube experiment

1 reference

https://pubmed.ncbi.nlm.nih.gov/21920939

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Beckwith–Wiedemann syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/21920939

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1093/HMG/DDR419

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21920939%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

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12 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

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12 February 2020

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