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AUTS2 Regulates RNA Metabolism and Dentate Gyrus Development in Mice.
Cereb Cortex
August 2021
Department of Pathology, University of Washington, Seattle, WA 98195, USA.
Human AUTS2 mutations are linked to a syndrome of intellectual disability, autistic features, epilepsy, and other neurological and somatic disorders. Although it is known that this unique gene is highly expressed in developing cerebral cortex, the molecular and developmental functions of AUTS2 protein remain unclear. Using proteomics methods to identify AUTS2 binding partners in neonatal mouse cerebral cortex, we found that AUTS2 associates with multiple proteins that regulate RNA transcription, splicing, localization, and stability.
View Article and Find Full Text PDFIdentification of a Novel Non-desmoglein Autoantigen in Pemphigus Vulgaris.
Front Immunol
September 2020
Laboratory of Molecular and Cell Biology, IDI-IRCCS, Rome, Italy.
Pemphigus vulgaris (PV) is an autoimmune bullous disease of the skin and mucous membranes characterized by the presence of circulating and tissue-bound autoantibodies against keratinocyte cell surface antigens, specifically desmoglein (Dsg) 1 and 3. The pathogenic role of anti-Dsg antibodies is well-established, while the mechanism of blister formation is only partly defined. We have applied a previously developed method for the efficient immortalization of IgG+ memory B cells to identify novel target antigens in PV.
View Article and Find Full Text PDFDetection of IgE autoantibodies in mucous membrane pemphigoid and their association with disease severity.
G Ital Dermatol Venereol
December 2020
Unit of Dermatology, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Background: Mucous membrane pemphigoid (MMP) is an autoimmune disease characterized by scarring lesions at mucosal sites. Although the pathogenic role of specific IgG and/or IgA has been already demonstrated and the detection of these immunoglobulins is a criterion in the diagnosis of MMP, little is known about IgE role in this disease. Therefore, the main purpose of this study was to assess the presence of circulating and tissue bound IgE in patients with MMP and their possible correlations with clinical presentation and disease course.
View Article and Find Full Text PDFSingle-cell variability in multicellular organisms.
Nat Commun
January 2018
School of Biological Sciences, University of Edinburgh, Mayfield Road, Edinburgh, EH9 3JR, Scotland, UK.
Noisy gene expression is of fundamental importance to single cells, and is therefore widely studied in single-celled organisms. Extending these studies to multicellular organisms is challenging since their cells are generally not isolated, but individuals in a tissue. Cell-cell coupling via signalling, active transport or pure diffusion, ensures that tissue-bound cells are neither fully independent of each other, nor an entirely homogeneous population.
View Article and Find Full Text PDFGranulomatous Reaction to Pneumocystis jirovecii Diagnosed in a Bronchoalveolar Lavage: A Case Report.
Acta Cytol
January 2016
Institute of Pathology, Centre Hospitalier Universitaire Vaudois and University of Lausanne, Lausanne, Switzerland.
Background: Granulomatous reaction to Pneumocystis jirovecii is a rare but well-known pathological finding encountered in the setting of immunosuppression, HIV infection being the most common cause. It can also potentially complicate the treatment of hematological malignancies, typically when drugs lowering the count and function of lymphocytes are used. Lung biopsy is considered the gold standard for the diagnosis of granulomatous P.
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