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Article

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

1 Feb 1997

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Share to Epigenetics and DNA Methylation
Share to Genetic Syndromes and Imprinting
Share to Prenatal Screening and Diagnostics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 9020845
DOI: 10.1038/ng0297-181

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Related research

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Click a neighbor to travelStep 1 · 12 closest

Human KVLQT1 gene shows tissue-specific imprinting and encompasses Beckwith-Wiedemann syndrome chromosomal rearrangementsPMID 9020845Read ↗

Genomic organization and mutational analysis of KVLQT1, a gene responsible for familial long QT syndromeSemantic proximity Read ↗

Imprinting of mouse Kvlqt1 is developmentally regulated.Semantic proximity Read ↗

Sequence-based structural features between Kvlqt1 and Tapa1 on mouse chromosome 7F4/F5 corresponding to the Beckwith-Wiedemann syndrome region on human 11p15.5: long-stretches of unusually well conserved intronic sequences of kvlqt1 between mouse and human.Semantic proximity Read ↗

Kv10.1 potassium channel: from the brain to the tumorsSemantic proximity Read ↗

The 5' end of the KCNQ1OT1 gene is hypomethylated in the Beckwith-Wiedemann syndrome.Semantic proximity Read ↗

Aberrant CpG methylation of the imprinting control region KvDMR1 detected in assisted reproductive technology-produced calves and pathogenesis of large offspring syndromeSemantic proximity Read ↗

Targeted disruption of the human LIT1 locus defines a putative imprinting control element playing an essential role in Beckwith-Wiedemann syndrome.Semantic proximity Read ↗

Blocked transcription through KvDMR1 results in absence of methylation and gene silencing resembling Beckwith-Wiedemann syndromeSemantic proximity Read ↗

A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndromeSemantic proximity Read ↗

Allele-specific binding of CTCF to the multipartite imprinting control region KvDMR1.Semantic proximity Read ↗

Loss of imprinting of a paternally expressed transcript, with antisense orientation to K <sub>V</sub> LQT1, occurs frequently in Beckwith–Wiedemann syndrome and is independent of insulin-like growth factor II imprintingSemantic proximity Read ↗

Genetic and functional linkage of Kir5.1 and Kir2.1 channel subunitsSemantic proximity Read ↗

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