Hilary Christensen

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Jacobsen syndrome (JS) is a rare contiguous gene disorder characterized by a deletion within the distal part of the long arm of chromosome 11 ranging in size from 7 to 20 Mb. The clinical findings include characteristic dysmorphic features, growth and psychomotor delays and developmental anomalies involving the brain, eyes, heart, kidneys, immune,(More)
Next-generation RNA sequence analysis of platelets from an individual with autosomal recessive gray platelet syndrome (GPS, MIM139090) detected abnormal transcript reads, including intron retention, mapping to NBEAL2 (encoding neurobeachin-like 2). Genomic DNA sequencing confirmed mutations in NBEAL2 as the genetic cause of GPS. NBEAL2 encodes a protein(More)
Atypical hemolytic uremic syndrome (aHUS) is associated with complement system dysregulation, and more than 25% of pediatric aHUS cases are linked to mutations in complement factor H (CFH) or CFH autoantibodies. The observation of thrombocytopenia and platelet-rich thrombi in the glomerular microvasculature indicates that platelets are intimately involved(More)
Proteins found in amniotic fluid are mainly serum proteins, probably of maternal origin. About 5% of the total protein concentration has the potential of being fetal or decidual in origin. Only a few of these proteins have been isolated and characterised. In order to describe the foetal and decidual components in amniotic fluid more extensively, a(More)
Bin-Amphiphysin-Rvs (BAR) and Fes-CIP4 homology BAR (F-BAR) proteins generate tubular membrane invaginations reminiscent of the megakaryocyte (MK) demarcation membrane system (DMS), which provides membranes necessary for future platelets. The F-BAR protein PACSIN2 is one of the most abundant BAR/F-BAR proteins in platelets and the only one reported to(More)
The periodical cicadas of the genus Magicicada (including M. septendecim, M. cassini, and M. septendecula) have the longest juvenile life span of any insect, living underground for 13 or 17 years and feeding exclusively on root xylem fluids. Due to their inaccessible life cycles very little is known about cicada nutrition, despite the fact that members of(More)
Bleeding problems are associated with defects in platelet alpha-granules, yet little is known about how these granules are formed and released. Mutations affecting VPS33B, a novel Sec1/Munc18 protein, have recently been linked to arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome. We have characterized platelets from patients with ARC(More)
The purpose of the study was to assess the efficacy and tolerance of risperidone in mania. Fourteen inpatients with a DSM-IV manic episode were treated with risperidone at a fixed daily dose of 6 mg for 4 weeks. Compliance was assured by weekly determinations of serum concentrations of risperidone. Ten out of the 14 patients completed all 4 weeks of(More)
The background to the concept of the term “molten globule” as a description of intermediates observed in the folding of globular proteins is discussed. These compact intermediates are characterised by certain properties including the presence of secondary structure and considerable conformational mobility compared to the native, functional state. Those(More)
Patients with platelet α or dense δ-granule defects have bleeding problems. Although several proteins are known to be required for δ-granule development, less is known about α-granule biogenesis. Our previous work showed that the BEACH protein NBEAL2 and the Sec1/Munc18 protein VPS33B are required for α-granule biogenesis. Using a yeast two-hybrid screen,(More)