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Japanese human fibroblasts: Healthy vs. Pachydermoperiostosis (PDP). Homo sapiens

NIAID Data Ecosystem2026-03-06 收录

遗传病机制

成纤维细胞模型

数据链接：

https://www.ncbi.nlm.nih.gov/bioproject/PRJNA119957 数据链接链接失效反馈

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资源简介：

Human fibroblasts comparison between healthy and PDP. Keywords: genetic disease Overall design: Two-condition experiment, Control vs. PDP fibroblasts.

应用场景：

创建时间：

2010-03-31

遗传病机制

干细胞模型基因表达分析

Table of positively enriched gene sets. (XLSB 188Â kb)

Figshare2016-12-15 更新80

Mapping cis-regulatory elements in human excitatory and inhibitory neurons links psychiatric disease heritability and activity-regulated transcriptional programs [ATAC-seq]

神经元表观遗传学

遗传病机制

Genome-wide association studies (GWAS) have identified hundreds of loci associated with psychiatric diseases, yet there is a lack of understanding of disease pathophysiology. Common risk variants can

NIAID Data Ecosystem60

Loss of the ataxia–telangiectasia gene product causes oxidative damage in target organs

遗传病机制

氧化应激病理

Ataxia–telangiectasia (A-T) is characterized by a markedly increased sensitivity to ionizing radiation, increased incidence of cancer, and neurodegeneration, especially of the cerebellar Purkinje cell

PubMed Central1999-08-17 更新40

Table_1_From Disease Description and Gene Discovery to Functional Cell Pathway: A Decade-Long Journey for TMCO1.DOCX

遗传病机制

钙信号通路

A decade has passed since transmembrane coiled-coil domains 1 (TMCO1) defect syndrome was identified in 11 undiagnosed patients within the Old Order Amish of Northeastern Ohio—a disorder characterized

NIAID Data Ecosystem70

BubR1 allelic effects drive phenotypic heterogeneity in MVA progeria syndrome [3 month old RNA-seq]

遗传病机制

RNA测序分析

Mosaic-variegated aneuploidy (MVA) syndrome is a rare childhood disorder characterized by biallelic BUBR1, CEP57, or TRIP13 aberrations, increased chromosome missegregation, and a broad spectrum of cl

NIAID Data Ecosystem40

Japanese human fibroblasts: Healthy vs. Pachydermoperiostosis (PDP). Homo sapiens

资源简介：

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