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GenomicsNational Heart Lung and Blood Institute Exome sequencing in SCID

Analysis of the molecular etiologies of severe combined immunodeficiency (SCID) has led to important insights into the control of immune cell development. Most cases of SCID result from either X-linked or autosomal recessive inheritance of mutations in a known causative gene. However, in some cas...

phs000479.v1.p1 | EGA
ProteomicsNovel Peptidomic Analysis Identifies Peptide Clusters with Potential for Disease Diagnosis and Dysregulated Proteolytic Processing
Mass spectrometry-based peptidomics provides a comprehensive approach to delineate the global proteolytic landscape of diseases and to identify potential biomarkers. However, current data analysis methods struggle to distill the peptidomic signatures of diseases. In this study, we conducted a peptid...
ORGANISM(S): Homo Sapiens 
2025-04-02 | PXD062496 |
ProteomicsPlasma proteome profiling combined with clinical and genetic features reveals pathophysiological characteristics of β-thalassemia
The phenotype of β-thalassemia underlies multigene interactions, making clinical stratification complicated. An increasing number of genetic modifiers affecting the disease severity have been identified, but are still unable to meet the demand of precision diagnosis. Here, we systematically conducte...
ORGANISM(S): Homo Sapiens 
2022-03-10 | PXD032179 |
Proteomicsβ-thalassemia plasma EVs proteomics
Here, we performed plasma extracellular vesicles (EVs) proteomics on 20 β-thalassemia major (TM) patients, 20 intermedia (TI) patients, and 20 healthy controls to explore the subgroup characteristics and the potential biomarkers. The proteome of paired plasma was analyzed in parallel to compare the ...
ORGANISM(S): Homo Sapiens 
2022-06-15 | PXD034548 |
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