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UnknownA genome-wide case-only test for the detection of digenic inheritance in human exomes.
Not available
S-EPMC7430978 | biostudies-literature
UnknownAutophagy in stromal fibroblasts promotes tumor desmoplasia and mammary tumorigenesis.
Not available
S-EPMC8247603 | biostudies-literature
UnknownValidation of the spanish version of the Multiple Sclerosis International Quality of Life (Musiqol) questionnaire.
Not available
S-EPMC3206836 | biostudies-literature
ProteomicsIRF1 mass-spectrometry primary fibroblasts non-stimulated or stimulated with IFNg for 24h
Inborn errors of human IFN-γ immunity underlie mycobacterial diseases, whereas inborn errors of IFN-a/b immunity underlie viral diseases. Both types of IFNs induce the transcription factor IRF1. We describe two unrelated children with inherited complete IRF1 deficiency and early-onset, multiple, lif...
ORGANISM(S): Homo sapiens (Human) 
2023-01-19 | PXD037759 | Pride
Fibroblasts Ifng Lc-ms 
ProteomicsLarge-scale proteome and ubiquitination landscape of patients with OTULIN haploinsufficiency Part1 of 3
The molecular basis of interindividual clinical variability upon infection with Staphylococcus aureus is unclear. We describe patients with haploinsufficiency for the linear deubiquitinase OTULIN, encoded on chromosome 5p. The patients suffer from episodes of life-threatening necrosis, typically tri...
ORGANISM(S): Homo sapiens (Human) 
2022-06-13 | PXD032727 | Pride
Lc-msms Tmt Otulin Ubiquitin 
UnknownCoxsackievirus infection induces direct pancreatic β-cell killing but poor anti-viral CD8+ T-cell responses.
Not available
S-EPMC10473604 | biostudies-literature
UnknownCoxsackievirus infection induces direct pancreatic β cell killing but poor antiviral CD8<sup>+</sup> T cell responses.
Not available
S-EPMC10917340 | biostudies-literature
GenomicsBAMSE Epigene
illumina 450K
EGAD00010001461 | EGA
GenomicsBAMSE (Swedish abbreviation for Children, Allergy, Milieu, Stockholm, Epidemiology)
The BAMSE (Swedish abbreviation for Children, Allergy, Milieu, Stockholm, Epidemiology) study is an ongoing longitudinal, population-based prospective birth cohort including 4,089 children born between 1994 and 1996 in Stockholm, Sweden. The cohort was initially designed to study risk factors for as...
EGAS00001002746 | EGA
GenomicsBAMSE Epigene Data Access Committee
Data Access Committee EGAC00001000786
EGAC00001000786 | EGA
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