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UnknownA case report and literature review: Identification of a novel AIRE gene mutation associated with Autoimmune Polyendocrine Syndrome Type 1 in East Asians.
Not available
S-EPMC7440052 | biostudies-literature
UnknownDynamic changes of throat swabs RNA and serum antibodies for SARS-CoV-2 and their diagnostic performances in patients with COVID-19.
Not available
S-EPMC7534196 | biostudies-literature
MetabolomicsNon-invasive urinary metabolomic profiles discriminate biliary atresia from infantile hepatitis syndrome
INTRODUCTION: Neonatal cholestatic disorders are a group of hepatobiliary diseases occurring in the first 3 months of life. The most common causes of neonatal cholestasis are infantile hepatitis syndrome (IHS) and biliary atresia (BA). The clinical manifestations of the two diseases are ...
2019-06-25 | MTBLS689 | MetaboLights
TranscriptomicsmiRNA in human lung fibroblasts
By employing miRCURY™ LNA array, we have identified a subset (79) of the total number of miRNAs that are differentially expressed in TGF beta1-treated human lung fibroblasts MRC-5 cells, as compared to untreated control cells To know the differential expression of miRNA in human lung fibroblasts aft...
ORGANISM(S): Homo sapiens 
2013-02-01 | E-GEOD-43992 | biostudies-arrayexpress
MetabolomicsThe trans-omics landscape of COVID-19
The outbreak of coronavirus disease 2019 (COVID-19) is a global health emergency. Various omics results have been reported for COVID-19, but the molecular hallmarks of COVID-19, especially in those patients without comorbidities, have not been fully investigated. Here we collect blood samples from 2...
2021-10-06 | MTBLS2542 | MetaboLights
ProteomicsGlobal profiling of arginine reactivity and ligandability
Despite the crucial biological roles of arginine, its reactivity and ligandability in the human proteome are not well-explored. In this study, we employed the activity-based protein profiling approach using phenylglyoxal-based chemical probes to globally profile arginine residues. By screening a foc...
ORGANISM(S): Homo Sapiens 
2025-08-16 | PXD056202 |
UnknownFirst Identification of Rare Exonic and Deep Intronic Splice-Altering Variants in Patients With Beta-Sarcoglycanopathy.
Not available
S-EPMC9257024 | biostudies-literature
UnknownProGeo-neo: a customized proteogenomic workflow for neoantigen prediction and selection.
Not available
S-EPMC7118832 | biostudies-literature
ProteomicsThe plasma DIA proteomic analysis for humans aimming at exploring the mechanism of RIPC’s protective effect under hypobaric hypoxia condition.
The plasma proteome profiling data come from the humans who received remote ischemic preconditioning treatment and experienced hypobaric hypoxia exposure then.
ORGANISM(S): Homo Sapiens 
2022-01-25 | PXD031247 |
GenomicsItalian Primary Biliary Cirrhosis Study

A Genome-wide association study of primary biliary cirrhosis (PBC) with an Italian cohort and loci meeting suggestive criteria were confirmed using a replication dataset from a previous Canadian study. The results confirmed associations for IL12A, IL12RB2, and HLA (peak between DQA1 and DQB1) and...

phs000444.v1.p1 | EGA
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