Childhood presentation of COL4A1 mutations.
Bristol, United Kingdom. In Dev Med Child Neurol, Jun 2012
OBJECTIVE: To describe the clinical and radiological features of four new families with a childhood presentation of COL4A1 mutation.
Multiplex transcriptional analysis of paraffin-embedded liver needle biopsy from patients with liver fibrosis.
Chesterfield, United States. In Fibrogenesis Tissue Repair, 2011
Statistical analysis revealed that three genes (COL3A1, KRT18, and TUBB) could separate fibrotic from non-fibrotic samples and that the expression of ten genes (ANXA2, TIMP1, CTGF, COL4A1, KRT18, COL1A1, COL3A1, ACTA2, TGFB1, LOXL2) were positively correlated with the level of liver inflammation activity.
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
San Antonio, United States. In Plos One, 2011
Identified genome-wide significant loci: 1) corroborated genes implicated in other studies (MTNR1B, ZNF259/APOA5, XPA/FOXE1 (TTF-2), DARC, CCR3, ABO); 2) localized novel genes in plausible biological pathways (PCSK2, ARHGAP11A, CHRNA3); and 3) revealed novel genes with unknown function in obesity pathogenesis (MATK, COL4A1).
Stroke-related translational research.
Boston, United States. In Arch Neurol, 2011
Herein, we highlight genome-wide association studies and genetic studies of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, COL4A1 mutations, and cerebral cavernous malformations; advances in molecular biology and biomarkers; newer brain imaging research; and recovery from stroke emphasizing cell-based and other rehabilitative modalities.
Role of COL4A1 in small-vessel disease and hemorrhagic stroke.
Bar Harbor, United States. In N Engl J Med, 2006
Identified a COL4A1 mutation in a human family with small-vessel disease. Mutation of COL4A1 may cause a spectrum of cerebrovascular phenotypes and that persons with COL4A1 mutations may be predisposed to hemorrhage.