GLI2基因新型截短变异与Culler-Jones综合征相关并损害Hedgehog信号通路

资源简介

GLI2基因新型截短变异与Culler-Jones综合征相关并损害Hedgehog信号通路

【数据集背景】

本数据集源站标题为《A novel truncating variant of GLI2 associated with Culler-Jones syndrome impairs Hedgehog signalling》。配套论文《A novel truncating variant of GLI2 associated with Culler-Jones syndrome impairs Hedgehog signalling》发表于 PLOS ONE（2019），DOI：10.1371/journal.pone.0210097。源站首次发布：2019-01-10。

【数据内容】

源站原始描述：Background GLI2 encodes for a transcription factor that controls the expression of several genes in the Hedgehog pathway. Mutations in GLI2 have been described as causative of a spectrum of clinical phenotypes, notably holoprosencephaly, hypopituitarism and postaxial polydactyl. Methods In order to identify causative genetic variant, we performed exome sequencing of a trio from an Italian family with multiple affected individuals presenting clinical phenotypes in the Culler-Jones syndrome spectr…

【数据结构与技术规格】

文件数 2 个，合计 35.93 KB。pone.0210097.s001.docx：application/vnd.openxmlformats-officedocument.wordprocessingml.document，14.40 KB。pone.0210097.s002.docx：application/vnd.openxmlformats-officedocument.wordprocessingml.document，21.54 KB。数据集 DOI：10.1371/journal.pone.0210097。

【主题与分类】

源站学科分类：Genetics、Molecular Biology、Biotechnology、Evolutionary Biology、Developmental Biology、Cancer。主题标签：novel gene variants、Background GLI 2 encodes、Culler-Jones syndrome impairs Hedgehog、GLI 2. Functional assays、GLI 2. Results、novel truncating variant、GLI 2、C-terminal activation domain、Culler-Jones syndrome spectrum、novel deletion c .3493delC。

【适用方向】

源站学科分类标注为 Genetics、Molecular Biology、Biotechnology、Evolutionary Biology、Developmental Biology、Cancer。

【获取与许可】

源站页面：https://plos.figshare.com/articles/dataset/A_novel_truncating_variant_of_GLI2_associated_with_Culler-Jones_syndrome_impairs_Hedgehog_signalling/7574231

使用许可：CC BY 4.0（https://creativecommons.org/licenses/by/4.0/）。

规范引用：Valenza, Fabiola; Cittaro, Davide; Stupka, Elia; Biancolini, Donatella; Grazia Patricelli, Maria; Bonanomi, Dario; et al. (2019). A novel truncating variant of GLI2 associated with Culler-Jones syndrome impairs Hedgehog signalling. PLOS ONE. Dataset

【使用注意】

· 源站最后修改于 2023-05-31，引用时请注意版本时效。