Fetal Brain Lesions in Tuberous Sclerosis Complex: TORC1 Activation and Inflammation

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in either the TSC1 or TSC2 genes and characterized by developmental brain abnormalities. We defined the spectrum of brain abnormalities in fetal TSC brain ranging from 23 to 38 gestational weeks. We hypothesized (...

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Veröffentlicht in:	Brain pathology (Zurich, Switzerland) Switzerland), 2013-01, Vol.23 (1), p.45-59
Hauptverfasser:	Prabowo, Avanita S., Anink, Jasper J., Lammens, Martin, Nellist, Mark, van den Ouweland, Ans M. W., Adle-Biassette, Homa, Sarnat, Harvey B., Flores-Sarnat, Laura, Crino, Peter B., Aronica, Eleonora
Format:	Artikel
Sprache:	eng
Schlagworte:	Advanced glycosylation end products Antigens, CD - metabolism Astrocytoma Brain Brain - metabolism Brain - pathology c-Myc protein Cortex development DNA Mutational Analysis Encephalitis - etiology Female Fetus Fetuses Gene Expression Regulation, Neoplastic Gestational Age Giant cells Hamartin Hereditary diseases Humans Immunogenicity Inflammation Kinases Lymphocytes T Macrophages Magnetic Resonance Imaging Major histocompatibility complex major histocompatibility complex (MHC) class I Male Mechanistic Target of Rapamycin Complex 1 Medical research microglia Multiprotein Complexes - metabolism Mutation - genetics Nerve Tissue Proteins - metabolism p70 S6 kinase phosphorylated ribosomal protein S6 Pregnancy Prenatal Diagnosis Receptor for Advanced Glycation End Products Receptors, Immunologic - metabolism Signal transduction Toll-like receptors Toll-Like Receptors - metabolism TOR Serine-Threonine Kinases - metabolism TORC1 signaling tuberous sclerosis Tuberous Sclerosis - complications Tuberous Sclerosis - pathology Tuberous sclerosis 2 protein tubers Tumor Suppressor Proteins - genetics
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