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TranscriptomicsA protective strategy against hyperinflammatory responses requiring the non-transcriptional actions of GPS2
The association between hyper-inflammatory states and numerous diseases is widely recognized, but our understanding of the molecular strategies that have evolved to prevent uncontrolled activation of inflammatory responses remains incomplete. Here, we report a critical, non-transcriptional role of G...
ORGANISM(S): Homo sapiens 
2012-03-23 | E-GEOD-35197 | biostudies-arrayexpress
UnknownHydrocortisone malabsorption due to polyethylene glycols (Macrogol 3350) in a girl with congenital adrenal insufficiency.
Not available
S-EPMC4422474 | biostudies-literature
UnknownCharacterization of Autoimmune Thyroid Disease in a Cohort of 73 Paediatric Patients Affected by 22q11.2 Deletion Syndrome: Longitudinal Single-Centre Study.
Not available
S-EPMC9498530 | biostudies-literature
UnknownThe Serum Immunoglobulin E Level: Is There a Relationship With the Clinical Course of the Gianotti-Crosti Syndrome?
Not available
S-EPMC7947791 | biostudies-literature
UnknownOL-EDA-ID Syndrome: a Novel Hypomorphic NEMO Mutation Associated with a Severe Clinical Presentation and Transient HLH.
Not available
S-EPMC5226985 | biostudies-literature
UnknownCoFish: co-designing citizen science between fishers and scientists to monitor the phosphorus distribution across two lake Geneva basins.
Not available
S-EPMC12720463 | biostudies-literature
UnknownLandscape Analysis of <i>COL6A1</i>, <i>COL6A2</i>, and <i>COL6A3</i> Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report.
Not available
S-EPMC12564197 | biostudies-literature
TranscriptomicsTranscription profiling of human quadriceps muscle of young Duchenne muscular dystrophy patients and age matched controls
Albeit increased serum CK level and abnormal muscle histology are always present, boys with DMD are phenotipically indistinguishable from the normal ones at birth and, in their first years of life, acquire early motor milestones at normal times. A clear defect in muscle function becomes generally ap...
ORGANISM(S): Homo sapiens 
2008-06-14 | E-GEOD-6011 | biostudies-arrayexpress
UnknownClinical, Immunological, and Molecular Features of Typical and Atypical Severe Combined Immunodeficiency: Report of the Italian Primary Immunodeficiency Network.
Not available
S-EPMC6700292 | biostudies-literature
UnknownEfficacy of a new technique - INtubate-RECruit-SURfactant-Extubate - "IN-REC-SUR-E" - in preterm neonates with respiratory distress syndrome: study protocol for a randomized controlled trial.
Not available
S-EPMC4991115 | biostudies-literature
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