首页/数据集/Additional file 3 of Using chanarin-dorfman syndrome patient fibroblasts to explore disease mechanisms and new treatment avenues

Additional file 3 of Using chanarin-dorfman syndrome patient fibroblasts to explore disease mechanisms and new treatment avenues

NIAID Data Ecosystem2026-05-02 收录

罕见病机制

细胞模型药物发现

数据链接：

https://figshare.com/articles/dataset/Additional_file_3_of_Using_chanarin-dorfman_syndrome_patient_fibroblasts_to_explore_disease_mechanisms_and_new_treatment_avenues/28862643 数据链接链接失效反馈

官方服务：

资源简介：

Supplementary Material 3

应用场景：

创建时间：

2025-04-24

罕见病机制

抗氧化剂药物筛选

Nijmegen Breakage Syndrome (NBS) is a rare autosomal recessive genetic disorder, first described 1981 in Nijmegen, Holland. The characteristics of NBS include genomic instability (resulting in early o

NIAID Data Ecosystem60

Analysis of deficiency of adenosine deaminase 2 pathogenesis based on single cell RNA sequencing of monocytes

单细胞转录组学

罕见病机制

Background and methods: Deficiency of adenosine deaminase 2 (DADA2) is a rare autosomal recessive disease caused by loss-of-function variants in the ADA2 gene. DADA2 typically presents in childhood an

NIAID Data Ecosystem50

Inhibition of GSK3α,β rescues cognitive phenotypes in a preclinical mouse model of CTNNB1 Syndrome

罕见病机制

药理学干预

CTNNB1 syndrome is a rare monogenetic disorder caused by CTNNB1 de novo pathogenic heterozygous loss-of-function variants that result in cognitive and motor disabilities. Treatment is currently lackin

NIAID Data Ecosystem10

Analysis of deficiency of adenosine deaminase 2 pathogenesis based on single cell RNA sequencing of monocytes. Analysis of deficiency of adenosine deaminase 2 pathogenesis based on single cell RNA sequencing of monocytes

单细胞转录组学

罕见病机制

NIAID Data Ecosystem50

Table 1_Case report: anti-IL-6 autoantibodies in a patient with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.docx

临床免疫学

罕见病机制

We describe an atypical presentation of Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked syndrome. The patient exhibited food allergies and eczema, along with recurrent and severe infec

NIAID Data Ecosystem30

Additional file 3 of Using chanarin-dorfman syndrome patient fibroblasts to explore disease mechanisms and new treatment avenues

资源简介：

相关数据集