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human 3'' RACE
Mpn1 proteins are evolutionarily conserved exonucleases that modify spliceosomal U6 small nuclear RNAs (snRNAs) post-transcriptionally. Mutations in the human MPN1 gene are associated to the genoderma
NIAID Data Ecosystem100
Additional file 3 of Increased interferon I signaling, DNA damage response and evidence of T-cell exhaustion in a patient with combined interferonopathy (Aicardi-Goutières Syndrome, AGS) and cohesinopathy (Cornelia de Lange Syndrome, CdLS)
Supplementary Material 3: Table 3. List of Differential Expressed Genes (RNA-seq) on comparisons CasevsHealthy and CasevsSLE (P-value <0.05 and |FC|³1.5).
DataCite Commons2025-01-28 更新50
Exome, transcriptome, 16S data of nuclear family carrying de novo CNV
We have described a family with a de novo 1 Mb duplication involving 18 genes on chromosome 19. The CNV was confirmed as de novo in the mother and inherited by both sons using qPCR. We report WES, RNA
NIAID Data Ecosystem30
Additional file 1 of RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell–cell adhesion, EMT-like phenotype and invasiveness properties: implications for squamous cell carcinoma susceptibility in patients with 46XX disorder of sexual development
Additional file1. Table S1. Differentially expressed genes in affected plantar hyperkeratosic skin of RSPO1-mutated patient vs plantar control - Affimetrix microarrays U133a Raw data).Values in the Si
Figshare2022-07-20 更新60
Sequencing data for a molecular autopsy study
Four children of a family had died with Hirschsprung disease, gastroesophageal reflux disease, coarse facial features, severe global developmental delay, agenesis of corpus callosum, failure to thrive
NIAID Data Ecosystem30
