Low frequency of p57KIP2 mutation in Beckwith-Wiedemann syndrome (Q35249196)

7 August 2017

Low frequency of p57KIP2 mutation in Beckwith-Wiedemann syndrome (English)

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Beckwith-Wiedemann syndrome

7 August 2017

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M P Lee

1

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7 August 2017

M DeBaun

2

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7 August 2017

G Randhawa

3

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7 August 2017

B A Reichard

4

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7 August 2017

S J Elledge

5

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7 August 2017

A P Feinberg

6

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7 August 2017

language of work or name

English

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publication date

1 August 1997

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American Journal of Human Genetics

7 August 2017

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7 August 2017

61

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7 August 2017

2

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7 August 2017

304-309

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

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715913

An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715913

Characterization of the human p57KIP2 gene: alternative splicing, insertion/deletion polymorphisms in VNTR sequences in the coding region, and mutational analysis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715913

Imprinting of the gene encoding a human cyclin-dependent kinase inhibitor, p57KIP2, on chromosome 11p15

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715913

Constitutional relaxation of insulin-like growth factor II gene imprinting associated with Wilms' tumour and gigantism

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715913

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715913

p57KIP2, a structurally distinct member of the p21CIP1 Cdk inhibitor family, is a candidate tumor suppressor gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715913

Cloning of p57KIP2, a cyclin-dependent kinase inhibitor with unique domain structure and tissue distribution

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715913

Abnormality of chromosome 11 in patients with features of Beckwith-Wiedemann syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715913

Genetic linkage of Beckwith-Wiedemann syndrome to 11p15.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715913

Familial Wiedemann-Beckwith syndrome and a second Wilms tumor locus both map to 11p15.5.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715913

Uniparental paternal disomy in a genetic cancer-predisposing syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715913

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715913

Mouse/human sequence divergence in a region with a paternal-specific methylation imprint at the human H19 locus.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715913

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715913

Relaxation of imprinted genes in human cancer.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715913

Trisomy 11p15 and Beckwith-Wiedemann syndrome. A report of two cases.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715913

An infant with Beckwith-Wiedemann syndrome and chromosomal duplication 11p13----pter.: correlation of symptoms between 11p trisomy and Beckwith-Wiedemann syndrome

26 September 2018

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12 December 2020

IGF2 is parentally imprinted during human embryogenesis and in the Beckwith-Wiedemann syndrome

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12 December 2020

Parental genomic imprinting of the human IGF2 gene

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12 December 2020

Tumour-suppressor activity of H19 RNA

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12 December 2020

Parental imprinting of human chromosome region 11p15.3-pter involved in the Beckwith-Wiedemann syndrome and various human neoplasia

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12 December 2020

Loss of imprinting of IGF2 is linked to reduced expression and abnormal methylation of H19 in Wilms' tumour

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12 December 2020

Epigenetic lesions at the H19 locus in Wilms' tumour patients

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12 December 2020

Reduced expression of the cyclin-dependent kinase inhibitor gene p57KIP2 in Wilms' tumor

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12 December 2020

Identifiers

DOI

10.1086/514858

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7 August 2017

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7 August 2017

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