Journal of Clinical Investigation -- Current IssueJournal of Clinical Investigation RSS feed -- Current issueHuntingtin-associated protein 1 interacts with Ahi1 to regulate cerebellar and brainstem development in mice- (Found August 15, 2008 ) Joubert syndrome is an autosomal recessive disorder characterized by congenital malformation of the cerebellum and brainstem, with abnormal decussation in the brain. Mutations in the Abelson helper integration site 1 gene, which encodes the protein AHI1, have been shown to cause Joubert syndrome. In this study, we found that mouse Ahi1 formed a stable complex with huntingtin-associated protein 1 (Hap1), which is critical for neonatal development and involved in intracellular trafficking....http://www.jci.org/articles/view/35339 HHMI to support young physician-scientists- (Found August 15, 2008 )http://www.jci.org/articles/view/36588 Welcome to your brain: Why you lose your car keys but never forget how to drive and other puzzles of everyday life- (Found August 15, 2008 )http://www.jci.org/articles/view/36571 Novel antibody markers of unstable atherosclerotic lesions- (Found August 15, 2008 ) Detection of autoantibodies in human serum assists in the diagnosis of patients with autoimmune diseases. Diagnostic antibody signatures have also been proposed for colon, pancreatic, and breast cancers. In this issue of the JCI, Cleutjens et al. describe the application of a peptide array technique toward the development of antibody biomarkers of ruptured atherosclerotic lesions (see the related article beginning on page 2979). A phage-display library was prepared from mRNA derived from...http://www.jci.org/articles/view/36270 Fc receptors in immune thrombocytopenias: a target for immunomodulation- (Found August 15, 2008 ) In autoimmune disease, Fc receptors (FcRs) form the interface between immune effector cells and their antibody-coated targets, and as such are attractive targets for immunomodulatory therapy. In this issue of the JCI, two highly novel studies of Fc&x02013;FcR interactions provide new insights into the role of FcRs in immune thrombocytopenia. Asahi et al. utilized a comprehensive platform of immunological assays to examine the mechanism underlying Helicobacter pylori&x02013;associated immune...http://www.jci.org/articles/view/36451 Fifty years later: the disk goes to the prom- (Found August 15, 2008 ) Although age-related macular degeneration is the most prevalent macular disease in the world, numerous discoveries regarding the molecular bases of vision have been made through genetic association studies of rare inherited maculopathies. In this issue of the JCI, Yang et al. present a functional genetics study that identifies a role for prominin 1 (PROM1), best known as a stem cell andor progenitor cell marker, in the biogenesis of retinal photoreceptor disk arrays (see the related article...http://www.jci.org/articles/view/36515 Marking a path to transplant tolerance- (Found August 15, 2008 ) Long-term allograft survival requires lifelong immunosuppression, which comes with serious side effects. Inducing immune tolerance to the transplant would enable immunosuppression withdrawal and revolutionize the quality of life of transplant recipients. In this issue of the JCI, Mart&x000ed;nez-Llordella et al. identify a profile of biomarkers that predict tolerance in liver transplant recipients (see the related article beginning on page 2845). These findings translate into a new means for...http://www.jci.org/articles/view/36552 Immune response hinders therapy for lysosomal storage diseases- (Found August 15, 2008 ) Enzyme replacement therapy (ERT) for the lysosomal storage disease mucopolysaccharidosis I (MPS I) involves i.v. injection of &x003b1;-l-iduronidase, which can be taken up by cells throughout the body. While a significant immune response to ERT has been shown in patients with MPS I, little is known about what effect anti-enzyme antibodies have on treatment efficacy. In this issue of the JCI, Dickson et al. demonstrate that anti-enzyme antibodies inhibit enzyme uptake and substantially limit the.http://www.jci.org/articles/view/36521 It takes two to tango: cigarette smoke partners with viruses to promote emphysema- (Found August 15, 2008 ) Viruses constitute a constant and renewed threat to humans. Not only do viruses cause disease directly due to their tissue tropism and pathogenicity, but they have also been linked to autoimmunity. In their study in this issue of the JCI, Kang et al. show that exposure to cigarette smoke induces alterations in the innate immune response to viral infection and that these changes hasten alveolar destruction characteristic of emphysema in mice (see the related beginning on page 2771). This study...http://www.jci.org/articles/view/36536 |