Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome.
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A family of insulin-like growth factor II mRNA-binding proteins represses translation in late developmentDisruption of a novel imprinted zinc-finger gene, ZNF215, in Beckwith-Wiedemann syndromeAssociation of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic alterations of LIT1 and H19Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defectsA maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndromeSilencing of CDKN1C (p57KIP2) is associated with hypomethylation at KvDMR1 in Beckwith-Wiedemann syndromeTranscriptional map of 170-kb region at chromosome 11p15.5: identification and mutational analysis of the BWR1A gene reveals the presence of mutations in tumor samplesAnalysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlationLoss of imprinting of a paternally expressed transcript, with antisense orientation to KVLQT1, occurs frequently in Beckwith-Wiedemann syndrome and is independent of insulin-like growth factor II imprintingAntioncogenes and human cancer.The RNA-binding protein IMP-3 is a translational activator of insulin-like growth factor II leader-3 mRNA during proliferation of human K562 leukemia cellsTargeted knockdown of the RNA-binding protein CRD-BP promotes cell proliferation via an insulin-like growth factor II-dependent pathway in human K562 leukemia cellsThe WTX tumor suppressor regulates mesenchymal progenitor cell fate specificationIn silico regulatory analysis for exploring human disease progression.The new dysmorphology: application of insights from basic developmental biology to the understanding of human birth defects.Cloning, expression and localization of human BM88 shows that it maps to chromosome 11p15.5, a region implicated in Beckwith-Wiedemann syndrome and tumorigenesisGenomic imprinting: implications for human disease.Parental origin of transcription from the human GNAS1 gene.Mosaic uniparental disomy in Beckwith-Wiedemann syndrome.Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome.Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndromeMultiple genetic loci within 11p15 defined by Beckwith-Wiedemann syndrome rearrangement breakpoints and subchromosomal transferable fragmentsMultiple mechanisms regulate imprinting of the mouse distal chromosome 7 gene cluster.Beckwith-Wiedemann syndrome: imprinting in clusters revisited.IGF-II dependent autocrine growth in cell lines derived from renal tumours of childhood.Imprinted genes as potential genetic and epigenetic toxicologic targetsGenetics of Beckwith-Wiedemann syndrome-associated tumors: common genetic pathways.Microdeletion of LIT1 in familial Beckwith-Wiedemann syndromeEpigenotype-phenotype correlations in Beckwith-Wiedemann syndrome.The insulin-like growth factor system: basic and clinical aspects.Wilms tumor chromatin profiles highlight stem cell properties and a renal developmental network.Search for imprinted regions on chromosome 14: comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion.Wilms tumor genetics.Addition of H19 'loss of methylation testing' for Beckwith-Wiedemann syndrome (BWS) increases the diagnostic yield.Relaxation of insulin-like growth factor 2 imprinting and discordant methylation at KvDMR1 in two first cousins affected by Beckwith-Wiedemann and Klippel-Trenaunay-Weber syndromes.Activation of an imprinted allele of the insulin-like growth factor II gene implicated in rhabdomyosarcomaDNA methylation, imprinting and cancer.Epigenetic changes encompassing the IGF2/H19 locus associated with relaxation of IGF2 imprinting and silencing of H19 in Wilms tumor.Loss of imprinting of the insulin-like growth factor II gene occurs by biallelic methylation in a core region of H19-associated CTCF-binding sites in colorectal cancerDisruption of imprinted genes at chromosome region 11p15.5 in paediatric rhabdomyosarcoma
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P2860
Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome.
description
1993 nî lūn-bûn
@nan
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
1993年论文
@zh
1993年论文
@zh-cn
name
Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome.
@en
type
label
Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome.
@en
prefLabel
Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome.
@en
P2093
P356
P1433
P1476
Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome.
@en
P2093
P2888
P304
P356
10.1038/NG1093-143
P407
P577
1993-10-01T00:00:00Z
P6179
1051755253