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Article

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

Human genetics - 1 Jul 2002

Cerrato Flavia, Vernucci Maria, Pedone Paolo V, Chiariotti Lorenzo, Sebastio Gianfranco, Bruni Carmelo B, Riccio Andrea

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Share to 5' Untranslated Regions
Share to Beckwith-Wiedemann Syndrome
Share to Genomic Imprinting
Share to KCNQ Potassium Channels

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 12136243
DOI: 10.1007/s00439-002-0751-1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

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Click a neighbor to travelStep 1 · 12 closest

The 5' end of the KCNQ1OT1 gene is hypomethylated in the Beckwith-Wiedemann syndrome.PMID 12136243Read ↗

In Vitro Fertilization May Increase the Risk of Beckwith-Wiedemann Syndrome Related to the Abnormal Imprinting of the KCNQ1OT GeneSemantic proximity Read ↗

Sequence and functional comparison in the Beckwith-Wiedemann region: implications for a novel imprinting centre and extended imprintingSemantic proximity Read ↗

Maternal versus paternal inheritance of a 132 bp 11p15.5 microdeletion affecting KCNQ1OT1 and associated phenotypes.Semantic proximity Read ↗

A highly polymorphic CA/GT repeat (LIMK1GT) within the Williams syndrome critical region.Semantic proximity Read ↗

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

The KCNQ1OT1 promoter, a key regulator of genomic imprinting in human chromosome 11p15.5.Semantic proximity Read ↗

Paternal 132 bp deletion affecting KCNQ1OT1 in 11p15.5 is associated with growth retardation but does not affect imprinting.Semantic proximity Read ↗

Frequency of KCNQ1 variants causing loss of methylation of Imprinting Centre 2 in Beckwith-Wiedemann syndrome.Semantic proximity Read ↗

Potential CpG-rich islands clustering around single-minded gene in Down syndrome chromosomal region.Semantic proximity Read ↗

Partial Duplication and Poly(A) Insertion in KCNQ1 Not Detected by Next-Generation Sequencing in Jervell and Lange-Nielsen Syndrome.Semantic proximity Read ↗

Genetic variants within the second intron of the KCNQ1 gene affect CTCF binding and confer a risk of Beckwith-Wiedemann syndrome upon maternal transmission.Semantic proximity Read ↗

Imprinting disruption of the <i>CDKN1C</i>/<i>KCNQ1OT1</i> domain: the molecular mechanisms causing Beckwith-Wiedemann syndrome and cancerSemantic proximity Read ↗

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