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Updated: Jun 15, 2026

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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结合长读基因组和转录基因组测序确定了MEGF8的新型变异,作为卡特综合征2型的原因

Kiana Rashidi1, Bhavi P Modi1, Phillip A Richmond1

  • 1The Rare Disease Discovery Hub, BC Children's Hospital Research Institute, University of British Columbia and British Columbia Children's Hospital, Vancouver, British Columbia, Canada.

American journal of medical genetics. Part A
|March 14, 2026
PubMed
概括

卡特综合征2型 (CRPT2) 是一种罕见的遗传疾病. 先进的测序方法有助于识别复杂的MEGF8基因变异,改善了对这种具有挑战性的疾病的诊断.

关键词:
卡宾特综合征是什么意思在RNAseqqq中使用.长时间读取的基因组测序.罕见病是一种罕见的疾病.

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Master Transcription Regulators02:23

Master Transcription Regulators

Master transcription regulators are regulatory proteins that are predominantly responsible for regulating the expression of multiple genes. Often these genes work in concert to drive a  complex process. Activation of a master transcription regulator can lead to a cascade of transcriptional activation necessary for that outcome. These regulators can directly bind to the regulatory sequences of the various genes involved, or they can indirectly regulate transcription by binding to regulatory...