A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome

scientific article

A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome is …
instance of (P31):
scholarly articleQ13442814

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P819ADS bibcode1999PNAS...96.8064S
P356DOI10.1073/PNAS.96.14.8064
P932PMC publication ID22188
P698PubMed publication ID10393948
P5875ResearchGate publication ID235614261

P50authorWolf ReikQ15994704
Paul R. CooperQ48550793
P2093author name stringE R Maher
R D Nicholls
T B Shows
M J Higgins
D J Driscoll
J A Joyce
P N Schofield
G M Caldwell
C D Day
N J Smilinich
R Weksberg
A C Lossie
A C Smallwood
G V Fitzpatrick
P2860cites workImprinting mutation in the Beckwith-Wiedemann syndrome leads to biallelic IGF2 expression through an H19-independent pathwayQ24308083
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Molecular genetics of Wiedemann-Beckwith syndromeQ57791247
Making sense or antisense?Q58989248
An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcriptQ60035843
Epigenetics and human diseaseQ71031916
Localization of Beckwith-Wiedemann and rhabdoid tumor chromosome rearrangements to a defined interval in chromosome band 11p15.5.Q71668047
Epigenetic mechanisms underlying the imprinting of the mouse H19 geneQ72094721
Characteristics of imprinted genesQ72127241
A 1-Mb physical map and PAC contig of the imprinted domain in 11p15.5 that contains TAPA1 and the BWSCR1/WT2 regionQ73618613
The molecular basis of long QT syndrome and prospects for therapyQ77475359
Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosisQ28272055
Disruption of imprinting caused by deletion of the H19 gene region in miceQ28287765
Role for DNA methylation in genomic imprintingQ29618669
The imprinted domain in mouse distal Chromosome 7: reagents for mutagenesis and sequencingQ31919132
Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndromeQ33678779
Multiple mechanisms regulate imprinting of the mouse distal chromosome 7 gene clusterQ33774256
Competition--a common motif for the imprinting mechanism?Q33887777
Imprinting-mutation mechanisms in Prader-Willi syndromeQ34388796
Parental imprinting and human diseaseQ34412350
Epigenetic changes encompassing the IGF2/H19 locus associated with relaxation of IGF2 imprinting and silencing of H19 in Wilms tumorQ34572727
Deletion of the H19 differentially methylated domain results in loss of imprinted expression of H19 and Igf2.Q35211749
Polymerase chain reaction (PCR) for detection of APal polymorphism at the insulin like growth factor II gene (IGF2)Q35801824
Structure of the imprinted mouse Snrpn gene and establishment of its parental-specific methylation patternQ36585144
A model system to study genomic imprinting of human genesQ36757273
Multiple imprinted sense and antisense transcripts, differential methylation and tandem repeats in a putative imprinting control region upstream of mouse Igf2.Q36820044
Location of enhancers is essential for the imprinting of H19 and Igf2 genesQ39450419
A 5' 2-kilobase-pair region of the imprinted mouse H19 gene exhibits exclusive paternal methylation throughout developmentQ40022869
Dinucleotide repeat polymorphism in the human SRC gene on chromosome 20Q40509732
Imprinting: a gamete's point of viewQ40598240
Genomic imprinting: control of gene expression by epigenetic inheritanceQ40626448
Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndromeQ41523994
Imprinting in clusters: lessons from Beckwith-Wiedemann syndromeQ41566242
A methylation imprint mark in the mouse imprinted gene Grf1/Cdc25Mm locus shares a common feature with the U2afbp-rs gene: an association with a short tandem repeat and a hypermethylated regionQ42676818
Syntenic organization of the mouse distal chromosome 7 imprinting cluster and the Beckwith-Wiedemann syndrome region in chromosome 11p15.5.Q48000452
Imprinting in Prader-Willi and Angelman syndromesQ48013064
Structure and function correlations at the imprinted mouse Snrpn locusQ48021403
Maternal-specific methylation of the imprinted mouse Igf2r locus identifies the expressed locus as carrying the imprinting signal.Q48125063
Imprinting of a RING zinc-finger encoding gene in the mouse chromosome region homologous to the Prader-Willi syndrome genetic regionQ48242077
The pre-implantation ontogeny of the H19 methylation imprint.Q48950502
An oocyte-specific methylation imprint center in the mouse U2afbp-rs/U2af1-rs1 gene marks the establishment of allele-specific methylation during preimplantation development.Q48952321
Imprinting of IGF2 and H19: lack of reciprocity in sporadic Beckwith-Wiedemann syndrome.Q50936741
Strain-dependent developmental relaxation of imprinting of an endogenous mouse gene, Kvlqt1.Q52182653
Imprinting mechanisms.Q52184196
Imprinting and the initiation of gene silencing in the germ line.Q52187741
Imprinting of mouse Kvlqt1 is developmentally regulated.Q52188959
Imprinted expression of the Igf2r gene depends on an intronic CpG island.Q52192434
Human KVLQT1 gene shows tissue-specific imprinting and encompasses Beckwith-Wiedemann syndrome chromosomal rearrangements.Q52196602
Imprinting mutations in the Beckwith-Wiedemann syndrome suggested by altered imprinting pattern in the IGF2-H19 domain.Q52204453
Genetic imprinting in the mouse: implications for gene regulation.Q52220346
Sex difference in methylation of single-copy genes in human meiotic germ cells: Implications for X chromosome inactivation, parental imprinting, and origin of CpG mutationsQ52241634
Relaxation of imprinted genes in human cancer.Q52545355
A catalogue of imprinted genes and parent-of-origin effects in humans and animals.Q55067911
P433issue14
P407language of work or nameEnglishQ1860
P921main subjectBeckwith-Wiedemann syndromeQ521863
CpG islandQ1138360
P1104number of pages6
P304page(s)8064-8069
P577publication date1999-07-01
P1433published inProceedings of the National Academy of Sciences of the United States of AmericaQ1146531
P1476titleA maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome
P478volume96

Reverse relations

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