RNA-seq of TTN p.Tyr4418Ter mutation mouse cardiac tissue

NIAID Data Ecosystem2026-05-01 收录

右心室转录组学

基因突变功能

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https://www.ncbi.nlm.nih.gov/bioproject/PRJNA1048119 数据链接链接失效反馈

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RNA-seq of TTN p.Tyr4418Ter mutation mouse cardiac tissue

创建时间：

2023-12-04

Heterozygous and homozygous knock-in of PIK3CA-H1047R into human iPSCs

基因突变功能

转录组剂量效应

We used CRISPR/Cas9 to knock in the cancer "hotspot" mutation PIK3CA-H1047R into one or both alleles of a wild-type induced pluripotent stem cell (iPSC) line (WTC11; Coriell # GM25256; P37-P38). Three

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c-Cbl Q367P HSC RNA-seq. Mus musculus

干细胞转录组

基因突变功能

Transcriptome analysis of Hematopoietic stem cells [HSC (LSK)] (Ctrl (flox/flox, MxCre-) vs cKI (Q367P)(flox/flox, MxCre+), 3 months post pIpC injection

NIAID Data Ecosystem40

CxVB3 infection and cardiac function

病毒性心肌炎

右心室转录组学

Male, adolescent A/J mice (4-5 week old) were either infected (IP) with coxsackievirus B3 (CVB3; 105 pfu) or PBS. CVB3 is a cardiotropic virus which leads to cardiac inflammation and fibrosis within 9

NIAID Data Ecosystem30

SPTB gene mutation proteomics dataset

基因突变功能

蛋白质组学分析

Cross-species sequence alignment revealed that the Trp182 residue is highly conserved. Structural modeling indicated that the Trp to Arg substitution alters the local side chain conformation. Function

DataCite Commons2026-03-11 更新40

Mutations in ANKS6 cause a Nephronophthisis‐Like Phenotype with End Stage Renal Disease

肾病遗传学

基因突变功能

Nephronophthisis (NPHP) is one of the most common genetic causes of chronic kidney disease (CKD); however the underlying genetic abnormalities have been established in less than 50% of cases. We perfo

Figshare2014-02-20 更新30

RNA-seq of TTN p.Tyr4418Ter mutation mouse cardiac tissue

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