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Genome wide gene expression in a patient with 15q13.3 homozygous microdeletion syndrome

ChEBI2013-02-17 更新2026-07-21 收录

疾病分子机制

基因组表达谱分析

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https://www.ebi.ac.uk/biostudies/ArrayExpress/studies/E-GEOD-43583 数据链接链接失效反馈

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Genome wide gene expression in a patient with 15q13.3 homozygous microdeletion syndrome

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创建时间：

2013-02-17

疾病分子机制

基因敲除模型

Peeling Skin Disease (PSD; OMIM 270300) is an inflammatory ichthyosis due to homozygous loss-of-function mutations in Corneodesmosin (CDSN) and characterized by lifelong patchy peeling of the skin ass

NIAID Data Ecosystem60

Comparative Genome-wide expression profiling of ADLD whole blood and fibroblasts cell lines.

基因组表达谱分析

ADLD疾病机制

Adult-onset autosomal dominant leukodystrophy (ADLD) is a slowly progressive neurological disorder characterized by autonomic dysfunction, followed by cerebellar and pyramidal features. ADLD is caused

NIAID Data Ecosystem60

MOESM4 of A genomic analysis and transcriptomic atlas of gene expression in Psoroptes ovis reveals feeding- and stage-specific patterns of allergen expression

寄生虫疾病与病理

基因组表达谱分析

Additional file 4. Gene IDs for all P. ovis genes attributed to each WHO/IUIS allergen groups.

NIAID Data Ecosystem40

Whole genome analysis of p38 SAPK-mediated gene expression upon stress. Mus musculus

热激应激转录调控

基因组表达谱分析

Cells have the ability to respond and adapt to environmental changes through the activation of stress-activated protein kinases (SAPKs). Although it has been shown that p38 SAPK signalling participate

NIAID Data Ecosystem60

Crystal structure of the disease-causing R460G mutant of the human dihydrolipoamide dehydrogenase at 1.44 Angstrom resolution

结构生物学

疾病分子机制

Crystal structure of the disease-causing R460G mutant of the human dihydrolipoamide dehydrogenase at 1.44 Angstrom resolution Descriptor: 2-[BIS-(2-HYDROXY-ETHYL)-AMINO]-2-HYDROXYMETHYL-PROPANE-1,3-DI

Protein Data Bank Japan2024-10-23 更新50

Genome wide gene expression in a patient with 15q13.3 homozygous microdeletion syndrome

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