数据链接：
官方服务：
资源简介：
Penetrance of cortical dysplasia in Col3a1 mice.
应用场景：
创建时间：
2015-12-02
相关数据集
A Drosophila Model of Pontocerebellar Hypoplasia Reveals a Critical Role for the RNA Exosome in Neurons
RNA-sequencing analysis reveals increased steady-state levels of key neuronal genes in Rrp40 mutant flies Overall design: Examination of Rrp40 missense mutantions modeled in Drosophila
NIAID Data Ecosystem110
Impaired T3 transport and action underlies the pathophisiology of the Allan-Herdon-Dudley syndrome
Patients with mutations in the thyroid hormone (TH) cell transporter MCT8 gene develop severe neuropsychomotor retardation known as the Allan-Herndon-Dudley syndrome (AHDS). It is assumed that this is
NIAID Data Ecosystem50
GFAP transgenic mice expression analysis. Mus musculus
Olfactory bulb transcript levels for GFAP transgenic mice compared to wildtype at 3wks and 4mos Keywords = GFAP Keywords = Rosenthal fibers Keywords = Alexander disease Keywords: other
NIAID Data Ecosystem40
Table_1_Cystatin B Involvement in Synapse Physiology of Rodent Brains and Human Cerebral Organoids.xlsx
Cystatin B (CSTB) is a ubiquitous protein belonging to a superfamily of protease inhibitors. CSTB may play a critical role in brain physiology because its mutations cause progressive myoclonic epileps
NIAID Data Ecosystem80
Human iPSC-derived neuronal cells from CTBP1-mutated patients reveal altered expression of neurodevelopmental gene networks
A recurrent de novo mutation in the transcriptional corepressor CTBP1 is associated with neurodevelopmental disabilities in children (Beck et al., 2016; Beck et al., 2019; Sommerville et al., 2017).
NIAID Data Ecosystem40
