Human KVLQT1 gene shows tissue-specific imprinting and encompasses Beckwith-Wiedemann syndrome chromosomal rearrangements. (Q52196602)

26 April 2018

title

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

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26 April 2018

Beckwith-Wiedemann syndrome

main subject

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26 April 2018

author name string

M P Lee

series ordinal

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26 April 2018

R J Hu

series ordinal

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26 April 2018

L A Johnson

series ordinal

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26 April 2018

language of work or name

English

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publication date

1 February 1997

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26 April 2018

published in

Nature Genetics

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26 April 2018

volume

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26 April 2018

issue

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26 April 2018

page(s)

181-185

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26 April 2018

Relaxation of imprinted genes in human cancer.

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Parental genomic imprinting of the human IGF2 gene

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

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Relaxation of insulin-like growth factor II gene imprinting implicated in Wilms' tumour

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Monoallelic expression of the human H19 gene

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

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Tumor cell growth arrest caused by subchromosomal transferable DNA fragments from chromosome 11

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Multiple genetic loci within 11p15 defined by Beckwith-Wiedemann syndrome rearrangement breakpoints and subchromosomal transferable fragments

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A model for embryonal rhabdomyosarcoma tumorigenesis that involves genome imprinting

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

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Epigenetic lesions at the H19 locus in Wilms' tumour patients

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

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Allelic methylation of H19 and IGF2 in the Beckwith-Wiedemann syndrome.

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

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Chromosome 11p15.5 regional imprinting: comparative analysis of KIP2 and H19 in human tissues and Wilms' tumors

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Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias

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

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

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Promoter-specific imprinting of the human insulin-like growth factor-II gene

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An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome

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Increased exon-trapping efficiency through modifications to the pSPL3 splicing vector

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Basic local alignment search tool

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Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

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K(V)LQT1 and lsK (minK) proteins associate to form the I(Ks) cardiac potassium current

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Coassembly of K(V)LQT1 and minK (IsK) proteins to form cardiac I(Ks) potassium channel

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7 January 2021

Identifiers

DOI

10.1038/NG0297-181

1 reference

26 April 2018

1 reference

26 April 2018