Japanese and North American/European patients with Beckwith-Wiedemann syndrome have different frequencies of some epigenetic and genetic alterations.

Japanese and North American/European patients with Beckwith-Wiedemann syndrome have different frequencies of some epigenetic and genetic alterations. Research Abstract Details 

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Japanese and North American/European patients with Beckwith-Wiedemann syndrome have different frequencies of some epigenetic and genetic alterations. Abstract Text:

Kensaku Sasaki,Hidenobu Soejima,Ken Higashimoto,Hitomi Yatsuki,Hirofumi Ohashi,Shinya Yakabe,Keiichiro Joh,Norio Niikawa,Tsunehiro Mukai,Kensaku Sasaki,Hidenobu Soejima,Ken Higashimoto,Hitomi Yatsuki,Hirofumi Ohashi,Shinya Yakabe,Keiichiro Joh,Norio Niikawa,Tsunehiro Mukai,Kensaku Sasaki,Hidenobu Soejima,Ken Higashimoto,Hitomi Yatsuki,Hirofumi Ohashi,Shinya Yakabe,Keiichiro Joh,Norio Niikawa,Tsunehiro Mukai,

Beckwith-Wiedemann syndrome (BWS) is an imprinting-related human disease. The frequencies of causative alterations such as loss of methylation (LOM) of KvDMR1, hypermethylation of H19-DMR, paternal uniparental disomy, CDKN1C gene mutation, and chromosome abnormality have been described for North American and European patients, but the corresponding frequencies in Japanese patients have not been measured to date. Analysis of 47 Japanese cases of BWS revealed a significantly lower frequency of H19-DMR hypermethylation and a higher frequency of chromosome abnormality than in North American and European patients. These results suggest that susceptibility to epigenetic and genetic alterations differs between the two groups.European Journal of Human Genetics (2007) 15, 1205-1210; doi:10.1038/sj.ejhg.5201912; published online 15 August 2007.

Japanese and North American/European patients with Beckwith-Wiedemann syndrome have different frequencies of some epigenetic and genetic alterations. Publishing Authors By Initials

K Sasaki,H Soejima,K Higashimoto,H Yatsuki,H Ohashi,S Yakabe,K Joh,N Niikawa,T Mukai,K Sasaki,H Soejima,K Higashimoto,H Yatsuki,H Ohashi,S Yakabe,K Joh,N Niikawa,T Mukai,K Sasaki,H Soejima,K Higashimoto,H Yatsuki,H Ohashi,S Yakabe,K Joh,N Niikawa,T Mukai,

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Japanese and North American/European patients with Beckwith-Wiedemann syndrome have different frequencies of some epigenetic and genetic alterations. Journal Published:

PUBLICATION TYPE: Journal Article

Journal: European journal of human genetics : EJHG

VOLUME: 15

Page Numbers: 1205-10

Journal Abbreviation: Eur. J. Hum. Genet.

ISSN: 1018-4813

DAY: 15

MONTH: 08

YEAR: 2007

Japanese and North American/European patients with Beckwith-Wiedemann syndrome have different frequencies of some epigenetic and genetic alterations. Information

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LANGUAGE: eng

NlmUniqueID: 9302235

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AFFILIATION: 1Division of Molecular Biology and Genetics, Department of Biomolecular Sciences, Saga University, Saga, Japan.

Country: England

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MEDLINETA: Eur J Hum Genet

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