首页/数据集/Long-range expression effects of CNV: insights from Smith-Magenis and Potocki-Lupski syndrome mouse model

Long-range expression effects of CNV: insights from Smith-Magenis and Potocki-Lupski syndrome mouse model

ChEBI2010-11-10 更新2026-07-21 收录

疾病动物模型

拷贝数变异调控

数据链接：

https://www.ebi.ac.uk/biostudies/ArrayExpress/studies/E-GEOD-14802 数据链接链接失效反馈

官方服务：

资源简介：

Long-range expression effects of CNV: insights from Smith-Magenis and Potocki-Lupski syndrome mouse model

应用场景：

创建时间：

2010-11-10

疾病动物模型

神经递质代谢异常

Human sepiapterin reductase deficiency is an inherited disease caused by SPR gene mutations and is a monoamine neurotransmitter disorder. Here, we investigated whether the silkworm lemon mutant could

NIAID Data Ecosystem80

The mouse pale ear (ep) mutation is the homologue of human Hermansky–Pudlak syndrome

疾病动物模型

细胞器生物发生与功能

The recessive mutation at the pale ear (ep) locus on mouse chromosome 19 was found to be the homologue of human Hermansky–Pudlak syndrome (HPS). A positional cloning strategy using yeast artificial ch

PubMed Central1997-08-19 更新50

Bidens pilosa L. (Asteraceae) cultivated in Brazil on acute liver disease in dogs

兽医药理学

疾病动物模型

ABSTRACT Bidens pilosa L. is a medicinal plant popularly used for treatment of liver diseases. In this study, the dry extract of aerial parts of Bidens pilosa and Silymarin, a phytocomplex obtained fr

Figshare2020-08-01 更新50

Inactivation of Pkd2 in adult mice results in delayed cyst formation and identifies sex as a major modifier of disease severity

疾病动物模型

性别差异研究

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is caused by mutations in PKD1 or PKD2 and is the most common single gene disorder resulting in end-stage kidney disease. Since deletion of either

NIAID Data Ecosystem60

Developmental Alterations in the Transcriptome of Three Distinct Rodent Models of Schizophrenia

精神分裂症转录组

疾病动物模型

Schizophrenia is a debilitating disorder affecting just under 1% of the population. While the symptoms of this disorder do not appear until late adolescence, pathological alterations likely occur earl

NIAID Data Ecosystem50

Long-range expression effects of CNV: insights from Smith-Magenis and Potocki-Lupski syndrome mouse model

资源简介：

相关数据集