Data for: Prevalence of Mitochondrial Mutations in UAE Patients with Hearing Loss
收藏NIAID Data Ecosystem2026-03-12 收录
官方服务：
资源简介：
Raw data for Whole-exome sequencing and Sanger sequencing.
应用场景：
创建时间：
2021-04-26
相关数据集
Mitochondrial Diseases Genomic
Genomic sequencing files, including BAM, VCFs and when available FASTQ.
DataCite Commons2020-09-22 更新60
Table_1_The Dimensions of Primary Mitochondrial Disorders.XLSX
The concept of a mitochondrial disorder was initially described in 1962, in a patient with altered energy metabolism. Over time, mitochondrial energy metabolism has been discovered to be influenced by
NIAID Data Ecosystem40
DataSheet1_Mitochondrial Displacement Loop Region SNPs Modify Sjögren’s Syndrome Development by Regulating Cytokines Expression in Female Patients.docx
Mitochondrial dysfunction could induce innate immune response with cytokines releasing to initiate Sjögren’s syndrome (SS) onset. Single nucleotide polymorphisms (SNPs) in the mitochondrial displaceme
NIAID Data Ecosystem20
Mutations in TIMM50 compromise cell survival in OxPhos-dependent metabolic conditions
TIMM50 is an essential component of the TIM23 complex, the mitochondrial inner membrane machinery that imports cytosolic proteins containing a mitochondrial targeting presequence into the mitochondria
NIAID Data Ecosystem60
Table_2_Early Onset of Combined Oxidative Phosphorylation Deficiency in Two Chinese Brothers Caused by a Homozygous (Leu275Phe) Mutation in the C1QBP Gene.XLSX
Mitochondrial diseases constitute a group of heterogeneous hereditary diseases caused by impairments in mitochondrial oxidative phosphorylation and abnormal cellular energy metabolism. C1QBP plays an
NIAID Data Ecosystem30
