Functional study of variants in FBXL4

NIAID Data Ecosystem2026-03-11 收录

线粒体疾病遗传

基因突变功能分析

数据链接：

https://www.ncbi.nlm.nih.gov/bioproject/PRJNA590845 数据链接链接失效反馈

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资源简介：

Molecular characterization of new FBXL4 mutations in patients with mtDNA depletion syndrome.

创建时间：

2019-11-21

RNAseq of FACS-sorted C.elegans neurons from wildtype and thoc-5(wy822) mutant animals.. Caenorhabditis elegans

神经细胞转录组学

基因突变功能分析

We sorted approx. 10000 neurons per sample from day one adult worms. We collected two wildtype samples and three thoc-5(wy822) mutant samples. Overall design: RNAseq of FACS-sorted C.elegans neurons f

NIAID Data Ecosystem60

The development of mitochondrial medicine.

线粒体疾病遗传

线粒体医学

Primary defects in mitochondrial function are implicated in over 100 diseases, and the list continues to grow. Yet the first mitochondrial defect--a myopathy--was demonstrated only 35 years ago. The f

PubMed Central1994-09-13 更新20

Transcriptome data of mitochondrial dysfunctions

线粒体疾病遗传

转录组学分析

This is a collection of transcriptome data sets related to mitochondrial dysfunctions and their possible treatment. It collects published data sets and re-processes them with a common procedure for th

Figshare2016-01-18 更新20

The SLC25A13 ASVs detected by cDNA analysis in the patient C0054.

遗传变异分析

线粒体疾病遗传

In this table, all the maternally-inherited ASVs but M-11 harbored r.329_468del. The nucleotide numbering was based on SLC25A13 cDNA sequence (GenBank: NM_014251), with +1 indicating the A of the ATG-

NIAID Data Ecosystem20

Additional file 1 of TARS2 c.470 C > G is a chinese-specific founder mutation in three unrelated families with mitochondrial encephalomyopathy

线粒体疾病遗传

创始人突变分析

Supplementary Material 1

Figshare2024-10-11 更新20