首页/数据集/Exchange_of_subtelomeric_regions_between_chromosomes_4q_and_10q:_a_novel_way_to_revert_the_FSHD_genotype_and_phenotype

Exchange_of_subtelomeric_regions_between_chromosomes_4q_and_10q:_a_novel_way_to_revert_the_FSHD_genotype_and_phenotype

NIAID Data Ecosystem2026-05-02 收录

FSHD面肩肱型肌营养不良症

染色体结构变异

数据链接：

https://www.ncbi.nlm.nih.gov/sra/ERP158079 数据链接链接失效反馈

官方服务：

资源简介：

Exchange of subtelomeric regions between chromosomes 4q and 10q: a novel way to revert the FSHD genotype and phenotype

应用场景：

创建时间：

2024-09-06

基因扩增

染色体结构变异

Copy number variation (CNV) of chromosomal segments is now recognized as a major source of genetic polymorphism within natural populations of eukaryotes, as well as a possible cause of genetic disease

NIAID Data Ecosystem90

Chromosomes showing inversion and translocation between the genetic and physical map of D 5 .

染色体结构变异

基因组比对

Chromosomes showing inversion and translocation between the genetic and physical map of D5.

NIAID Data Ecosystem50

Chromoanagenesis event underlies a de novo pericentric and multiple paracentric inversions in a single chromosome causing Coffin-Siris Syndrome. Chromoanagenesis event underlies a de novo pericentric and multiple paracentric inversions in a single chromosome causing Coffin-Siris Syndrome

染色体结构变异

遗传病分子机制

Chromoanagenesis is a descriptive term that encompasses classes of catastrophic mutagenic processes that generate localized and complex chromosome rearrangements in both somatic and germline genomes.

NIAID Data Ecosystem30

DUX/DUX4 activation is coupled to p53 signaling in embryos, 2C-like cells, and FSHD patient cells. DUX/DUX4 activation is coupled to p53 signaling in embryos, 2C-like cells, and FSHD patient cells

FSHD面肩肱型肌营养不良症

DUX4/p53信号通路

This SuperSeries is composed of the SubSeries listed below. Overall design: Refer to individual Series

NIAID Data Ecosystem80

Additional file 13: of Comprehensive genomic characterization of breast tumors with BRCA1 and BRCA2 mutations

乳腺癌基因组学

染色体结构变异

Table S8. Validation of interchromosomal translocations in BRCA1-mutated tumors using 10X genomics. (XLSX 9 kb)

Figshare2019-06-11 更新50