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UnknownPerformance of Repeated Measures of (1-3)-β-D-Glucan, Mannan Antigen, and Antimannan Antibodies for the Diagnosis of Invasive Candidiasis in ICU Patients: A Preplanned Ancillary Analysis of the EMPIRICUS Randomized Clinical Trial.
Not available
S-EPMC8002176 | biostudies-literature
ProteomicsBlood biomarkers in a cohort of patients with CHRNE-associated congenital myasthenic syndrome
Pathogenic variants in CHRNE encoding the epsilon subunit of acetyl choline receptor (AChR) result in impaired neuromuscular transmission and congenital myasthenic syndromes (CMS). Clinical manifestations include facial, ocular and limb fatigability and weakness, whereby severity of symptoms may var...
ORGANISM(S): Homo sapiens (Human) 
2025-05-07 | PXD054347 | Pride
Cms mirna Cms metabolites Cms biomarkers Plec Cms extracellular vesicles Cms white blood cells Cms amino acids 
ProteomicsBrachio-Cervical Inflammatory Myopathy: A Distinct Syndrome with Variable Association to Systemic Sclerosis — Insights from Clinical, Histopathological, and Transcriptomic Profiling
Brachio-cervical inflammatory myopathy (BCIM) is a rare and under-characterized subtype of idiopathic inflammatory myopathies (IIM), marked by prominent upper limb and neck muscle involvement. Since its initial description in 2006, few studies have addressed its clinical spectrum or pathogenesis, an...
ORGANISM(S): Homo sapiens (Human) 
2026-04-13 | PXD070103 | Pride
Inflammatory myopathy B cells Systemic clerosis Myositis 
UnknownEBF1 binds to EBNA2 and promotes the assembly of EBNA2 chromatin complexes in B cells.
Not available
S-EPMC5638620 | biostudies-literature
ProteomicsDysregulation of FLVCR1-dependent mitochondrial calcium handling in neural stem cells causes congenital hydrocephalus.
Congenital hydrocephalus (CH), occurring in approximately 1/1000 live births, represents an important clinical challenge due to the limited knowledge of underlying molecular mechanisms. The discovery of novel CH-genes is thus essential to shed light on the intricate processes responsible for ventric...
ORGANISM(S): Homo sapiens (Human) 
2024-08-09 | PXD047897 | Pride
Calcium handling Mass spectrometry Flvcr1 
ProteomicsMitochondrial energetic failure underlies FLVCR1-related sensory neuropathy
Genetic pain loss disorders represent a heterogeneous group of rare diseases mainly characterized by defective nociception. Understanding the underlying molecular mechanism is fundamental to improve the treatment of patients affected by these rare disorders. Feline Leukemia Virus Subgroup C Receptor...
ORGANISM(S): Homo sapiens (Human) 
2026-02-02 | PXD071580 | Pride
Posterior column ataxia and retinitis pigmentosa  pcarp  retinitis pigmentosa  hereditary sensory and autonomic neuropathy  hsan  heme  choline  mams  mercs 
UnknownCompensation in Preclinical Huntington's Disease: Evidence From the Track-On HD Study.
Not available
S-EPMC4634199 | biostudies-literature
UnknownNationwide standardization of minimally invasive right hemicolectomy for colon cancer and development and validation of a video-based competency assessment tool (the Right study).
Not available
S-EPMC10763527 | biostudies-literature
UnknownCirculating immune markers and risks of non-Hodgkin lymphoma subtypes: A pooled analysis.
Not available
S-EPMC9812887 | biostudies-literature
UnknownLow Levels of Circulating Adiponectin Are Associated with Multiple Myeloma Risk in Overweight and Obese Individuals.
Not available
S-EPMC4878138 | biostudies-literature
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