Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1. - Wikidata - wikimedia - TriplyDB

Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1.

Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1.

http://www.wikidata.org/entity/Q40492792

about

Genomic imprinting effects on complex traits in domesticated animal species Imprinted gene expression in hybrids: perturbed mechanisms and evolutionary implications.Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular Etiology Genome-wide DNA methylation analysis of patients with imprinting disorders identifies differentially methylated regions associated with novel candidate imprinted genes Tissue-specific insulator function at H19/Igf2 revealed by deletions at the imprinting control region.Oct4/Sox2 binding sites contribute to maintaining hypomethylation of the maternal igf2/h19 imprinting control region Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites.The H19 imprinting control region mediates preimplantation imprinted methylation of nearby sequences in yeast artificial chromosome transgenic mice.Antisense transcript long noncoding RNA (lncRNA) HOTAIR is transcriptionally induced by estradiol.Evidence for anticipation in Beckwith-Wiedemann syndrome.Quantitative DNA methylation analysis improves epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome.Molecular findings in Beckwith-Wiedemann syndrome.Epigenetic deregulation of genomic imprinting in humans: causal mechanisms and clinical implications.(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome: a paradigm for genomic medicine.Oct-1 regulates IL-17 expression by directing interchromosomal associations in conjunction with CTCF in T cells.Exposure of pregnant mice to chlorpyrifos-methyl alters embryonic H19 gene methylation patterns.Widespread differential maternal and paternal genome effects on fetal bone phenotype at mid-gestation.Exhaustive methylation analysis revealed uneven profiles of methylation at IGF2/ICR1/H19 11p15 loci in Russell Silver syndrome.An essential role for IGF2 in cartilage development and glucose metabolism during postnatal long bone growth.Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.Is ZFP57 binding to H19/IGF2:IG-DMR affected in Silver-Russell syndrome?Tissue-specific and mosaic imprinting defects underlie opposite congenital growth disorders in mice.Intergenerational response to the endocrine disruptor vinclozolin is influenced by maternal genotype and crossing scheme.High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome.

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Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1.

http://www.wikidata.org/entity/Q40492792

description

2011 nî lūn-bûn

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2011年の論文

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2011年学术文章

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2011年学术文章

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2011年学术文章

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2011年学术文章

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2011年学术文章

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2011年學術文章

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2011年學術文章

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2011年學術文章

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name

Beckwith-Wiedemann syndrome ca ...... printing control region, ICR1.

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type

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Beckwith-Wiedemann syndrome ca ...... printing control region, ICR1.

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Beckwith-Wiedemann syndrome ca ...... printing control region, ICR1.

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European Journal of Human Genetics

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Beckwith-Wiedemann syndrome ca ...... printing control region, ICR1.

@en

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Christine Gicquel

http://www.w3.org/2001/XMLSchema#string

Deborah J G Mackay

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Donald J Leith

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I Karen Temple

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Louise E Docherty

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Mansur E Shmela

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Miranda Splitt

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Rebecca L Poole

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P2860

Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57

Microdeletion of target sites for insulator protein CTCF in a chromosome 11p15 imprinting center in Beckwith-Wiedemann syndrome and Wilms' tumor.

Genomic imprinting mechanisms in mammals.

A dyad oct-binding sequence functions as a maintenance sequence for the unmethylated state within the H19/Igf2-imprinted control region.

Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor.

Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders.

Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome.

Investigation of 90 patients referred for molecular cytogenetic analysis using aCGH uncovers previously unsuspected anomalies of imprinting

Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour

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240-243

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scholarly article

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10.1038/EJHG.2011.166

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2

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20

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1002819752

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21863054

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3260935

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