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From Variant of Unknown Significance to Actionable Diagnosis: Stepwise Interpretation of a Novel KRT2 Variant in Superficial Epidermolytic Ichthyosis with Excellent Retinoid Response

NIAID Data Ecosystem2026-05-02 收录

浅表性表皮松解性鱼鳞病基因诊断

维甲酸响应

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https://data.mendeley.com/datasets/9jbn4wznhs 数据链接链接失效反馈

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Supplementary Material

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创建时间：

2025-08-12

基因表达调控

维甲酸响应

Additional file 2. Differential expression analyses results of all datasets after exposure to retinoic acid.

Figshare2021-03-03 更新60

Genome-wide analysis of BRCA1 and PALB2 [RA stimulation]. Homo sapiens

乳腺癌基因

维甲酸响应

Breast and ovarian cancer susceptibility genes, BRCA1 and PALB2 have enigmatic roles in cellular growth and mammalian development. While these genes are essential for growth during early developmental

NIAID Data Ecosystem30

Super-enhancer-associated core regulatory circuits mediate susceptibility to retinoic acid in neuroblastoma cells [RNA-seq]. Super-enhancer-associated core regulatory circuits mediate susceptibility to retinoic acid in neuroblastoma cells [RNA-seq]

神经母细胞瘤分子机制

维甲酸响应

Neuroblastoma is a pediatric tumor that accounts for more than 15% of cancer-related deaths in children. Survival chances for high-risk patients are less than 50%. Retinoic acid treatment is part of t

NIAID Data Ecosystem30

Genome-wide analysis of BRCA1 and PALB2 [RA stimulation]

乳腺癌基因功能

维甲酸响应

Breast and ovarian cancer susceptibility genes, BRCA1 and PALB2 have enigmatic roles in cellular growth and mammalian development. While these genes are essential for growth during early developmenta

NIAID Data Ecosystem50

The oncogene EVI1 enhances transcriptional and biological responses of human myeloid cells to all-trans retinoic acid [U937]

髓系白血病分子机制

维甲酸响应

The product of the ecotropic virus integration site 1 (EVI1) gene, whose overexpression is associated with a poor prognosis in myeloid leukemias and some epithelial tumors, regulates gene transcriptio

NIAID Data Ecosystem30

From Variant of Unknown Significance to Actionable Diagnosis: Stepwise Interpretation of a Novel KRT2 Variant in Superficial Epidermolytic Ichthyosis with Excellent Retinoid Response

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