Functional significance of ACVRL1 mutations.

NIAID Data Ecosystem2026-03-08 收录

基因突变功能

遗传性血管疾病

数据链接：

https://figshare.com/articles/dataset/_Functional_significance_of_ACVRL1_mutations_/1484560 数据链接链接失效反馈

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Previously known mutations are indicated in bold. *Patients with another described mutation in ENG.

创建时间：

2015-07-15

spt16 Mutant alleles that activate cryptic promoters in dominant fashion (1).

基因突变功能

隐秘启动子激活

(1)All mutant alleles listed here, on low-copy plasmids, activate the reporter genes his4-912δ, lys2-128δ, and GAL1pr-FLO8-HIS3 at 30°C in SPT16 cells (strains AW11-9a and FY2393). Some data for spt16

Figshare2015-12-02 更新40

Studies on the R595H hydrocephalus-associated mutation on Trim71

基因突变功能

转录组学分析

We studies on how a hydrocephalus-associated mutation (R595H) on Trim71 alters Trim71's substrate mRNA binding Transcriptome-wide Trim71 (R783H) target mRNAs were identified through CLIPseq in mouse e

NIAID Data Ecosystem30

DataSheet_1_Novel Compound Heterozygous Pathogenic Mutations of SLC5A5 in a Chinese Patient With Congenital Hypothyroidism.docx

甲状腺研究

基因突变功能

Background and ObjectivesDefects in the human sodium/iodide symporter (SLC5A5) gene have been reported to be one of the causes of congenital hypothyroidism (CH). We aimed to identify SLC5A5 mutations

NIAID Data Ecosystem20

RPS15 mutations rewire RNA translation in chronic lymphocytic leukemia

基因突变功能

RNA翻译调控

Recent studies of chronic lymphocytic leukemia (CLL) have reported recurrent mutations in the RPS15 gene, which encodes the ribosomal protein S15 (RPS15), a component of the 40S ribosomal subunit. Des

NIAID Data Ecosystem40

mRNA expression profiles of wild-type and CARD10 R587A knock-in A549 cells

差异表达转录组分析

基因突变功能

mRNA expression profiles of wild-type and CARD10 R587A knock-in A549 cells 3 replicates each of 3 wild-type A549 clones and 2 CARD10 R587A knock-in A549 clones; 15 samples in total

NIAID Data Ecosystem30

Functional significance of ACVRL1 mutations.

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