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Updated: Mar 18, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

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一种母体的外显子H拼接位变异导致类型1B的伪低甲状腺症,在GNAS差异甲基化区域中具有广泛的甲基化缺陷

Tatsuki Urakawa1,2, Haipeng Huang3, Takuhito Nagai4

  • 1Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo, 157- 8535, Japan.

Clinical epigenetics
|March 17, 2026
PubMed
概括

一种新的母性GNAS-H变体损害了其转录,导致甲基化缺陷,并导致类型1B (PHP1B) 伪低甲状腺症. 长读测序有助于诊断这种印记障碍.

关键词:
通过DNA甲基化.脱甲基化处理的治疗方法在GNAS中,GNAS是GNAS.印记障碍是一种印记障碍.长读序列的测序方式伪偏偏甲状腺症1B类型

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