Complement Factor C7 Contributes to Lung Immunopathology Caused byMycobacterium tuberculosis [PDF]
Kerry J. Welsh+4 more
openalex +1 more source
Thrombotic microangiopathy due to acquired complement factor I deficiency in a male receiving interferon-beta treatment for multiple sclerosis [PDF]
Sanda Mrabet+13 more
openalex +1 more source
Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases
ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas+24 more
wiley +1 more source
Analysis of Binding Sites on Complement Factor I Using Artificial N-Linked Glycosylation [PDF]
José I. Sánchez-Gallego+5 more
openalex +1 more source
EEG Response to Sedation Interruption Complements Behavioral Assessment After Severe Brain Injury
ABSTRACT Objective Accurate assessment of the level of consciousness and potential to recover in patients with severe brain injury underpins crucial decisions in the intensive care unit but remains a major challenge for the clinical team. The neurological wake‐up test is a widely used assessment tool. However, many patients' behavioral responses during
Charlotte Maschke+12 more
wiley +1 more source
Successful long-term outcome after renal transplantation in a patient with atypical haemolytic uremic syndrome with combined membrane cofactor protein CD46 and complement factor I mutations [PDF]
Werner Lukas Pabst+5 more
openalex +1 more source
A Case of Atypical Hemolytic Uremic Syndrome With a Complement Factor I Mutation Triggered by a Femoral Neck Fracture. [PDF]
Kano T+8 more
europepmc +1 more source
ABSTRACT Objective To provide a comprehensive clinical and genetic characterization of individuals with arthrogryposis multiplex congenita (AMC), focusing on the distribution of genetic etiologies across the neuromuscular spectrum and comparing myogenic and neurogenic subtypes. Methods A total of 105 individuals with AMC were clinically and genetically
Florencia Pérez‐Vidarte+13 more
wiley +1 more source
New functional and structural insights from updated mutational databases for complement factor H, Factor I, membrane cofactor protein and C3 [PDF]
Elizabeth Rodríguez+3 more
openalex +1 more source