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

作者信息

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

机构信息

Dipartimento di Scienze Ambientali, Seconda Università di Napoli, via Vivaldi 43, 81100 Caserta, Italy.

出版信息

Hum Genet. 2002 Jul;111(1):105-7. doi: 10.1007/s00439-002-0751-1. Epub 2002 Jun 14.

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

相似文献

1
The 5' end of the KCNQ1OT1 gene is hypomethylated in the Beckwith-Wiedemann syndrome.
Hum Genet. 2002 Jul;111(1):105-7. doi: 10.1007/s00439-002-0751-1. Epub 2002 Jun 14.
2
A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome.KvLQT1基因中一个母源甲基化的CpG岛与一个反义父源转录本以及贝克威思-维德曼综合征中的印记丢失有关。
Proc Natl Acad Sci U S A. 1999 Jul 6;96(14):8064-9. doi: 10.1073/pnas.96.14.8064.
3
KVLQT1, the rhythm of imprinting.
Nat Genet. 1997 Feb;15(2):113-5. doi: 10.1038/ng0297-113.
4
Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS.贝威综合征（BWS）患者肿瘤风险增加与H19异常甲基化而非KCNQ1OT1甲基化相关：BWS家族性病例中KCNQ1OT1低甲基化的发生情况。
Hum Mol Genet. 2001 Mar 1;10(5):467-76. doi: 10.1093/hmg/10.5.467.
5
In vitro fertilization may increase the risk of Beckwith-Wiedemann syndrome related to the abnormal imprinting of the KCN1OT gene.体外受精可能会增加与KCN1OT基因异常印记相关的贝克威思-维德曼综合征的风险。
Am J Hum Genet. 2003 May;72(5):1338-41. doi: 10.1086/374824.
6
Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1.贝克威思-维德曼综合征中的肿瘤发生与多种先天性分子11p15改变相关，包括KCNQ1OT1的印记缺陷。
Hum Mol Genet. 2001 Dec 15;10(26):2989-3000. doi: 10.1093/hmg/10.26.2989.
7
Sequence and functional comparison in the Beckwith-Wiedemann region: implications for a novel imprinting centre and extended imprinting.贝克威思-维德曼区域的序列与功能比较：对新型印记中心及扩展印记的意义
Hum Mol Genet. 2000 Nov 1;9(18):2691-706. doi: 10.1093/hmg/9.18.2691.
8
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.在两名患有贝克威思-维德曼综合征和克-特综合征的堂兄弟中，胰岛素样生长因子2印记放松以及KvDMR1处甲基化不一致。
Am J Hum Genet. 2000 Mar;66(3):841-7. doi: 10.1086/302811.
9
[Beckwith-Wiedemann syndrome].[贝克威思-维德曼综合征]
Nihon Rinsho. 2000 Jul;58(7):1511-4.
10
LIT1, an imprinted antisense RNA in the human KvLQT1 locus identified by screening for differentially expressed transcripts using monochromosomal hybrids.LIT1是一种人类KvLQT1基因座中的印记反义RNA，通过使用单染色体杂种筛选差异表达转录本来鉴定。
Hum Mol Genet. 1999 Jul;8(7):1209-17. doi: 10.1093/hmg/8.7.1209.

引用本文的文献

1
Clinical and Molecular Diagnosis of Beckwith-Wiedemann Syndrome with Single- or Multi-Locus Imprinting Disturbance.伴有单一位点或多位点印迹紊乱的 Beckwith-Wiedemann 综合征的临床和分子诊断。
Int J Mol Sci. 2021 Mar 26;22(7):3445. doi: 10.3390/ijms22073445.
2
Phenotypes and epigenetic errors in patients with Beckwith-Wiedemann syndrome in China.中国贝克威思-维德曼综合征患者的表型和表观遗传错误。
Transl Pediatr. 2020 Oct;9(5):653-661. doi: 10.21037/tp-20-243.
3
Diagnosis and Management of Beckwith-Wiedemann Syndrome.贝克威思-维德曼综合征的诊断与管理
Front Pediatr. 2020 Jan 21;7:562. doi: 10.3389/fped.2019.00562. eCollection 2019.
4
Overexpression of long non-coding RNA KCNQ1OT1 is related to good prognosis via inhibiting cell proliferation in non-small cell lung cancer.长链非编码 RNA KCNQ1OT1 的过表达通过抑制非小细胞肺癌细胞增殖与良好预后相关。
Thorac Cancer. 2018 May;9(5):523-531. doi: 10.1111/1759-7714.12599. Epub 2018 Mar 5.
5
Genetic syndromes associated with overgrowth in childhood.与儿童期过度生长相关的遗传综合征。
Ann Pediatr Endocrinol Metab. 2013 Sep;18(3):101-5. doi: 10.6065/apem.2013.18.3.101. Epub 2013 Sep 30.
6
Methylation analysis of KvDMR1 in human oocytes.人类卵母细胞中KvDMR1的甲基化分析
J Med Genet. 2007 Feb;44(2):144-7. doi: 10.1136/jmg.2006.044149. Epub 2006 Sep 1.