FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1549584529> ?p ?o ?g. }

• W1549584529 abstract "Abstract : Tuberous Sclerosis Complex (TSC) is a genetic multisystem disorder characterized by severe neurological symptoms (e.g., seizures), which are the most significant causes of disability and morbidity. Presently, there are no known cures for TSC and the etiology of the disease is not well understood, perhaps due to the lack of a model system to study the disorder. In TSC patients, mutations in one of two tumor suppressor genes, Tsc1 or Tsc2, result in the formation of lesions. The mechanisms leading to TSC lesions and associated seizure generation during perinatal life remain unclear in the absence of an animal model of TSC lesions. The goal of our recent funding cycle was to generate TSC lesions using a new approach in transgenic Tsc1 mice (Task 1) and to assess at which developmental stages some of the defects start to occur following Tsc1 inactivation (Task 2). We proposed to test the hypothesis that deletion of Tsc genes in perinatal neural progenitor cells contributes to the generation of TSC lesions and subsequent seizures, and to identify the mechanisms underlying that process. To test the hypothesis, we used a double hit model in transgenic mice carrying conditional (fl) and mutant (mut, nonfunctional) Tsc1 alleles (Tsc1(sup fl/mut) mice) by deleting the conditional Tsc1 allele in embryonic and neonatal progenitor cells using in vivo electroporation of Cre recombinase-containing plasmids. We proposed the following two aims: (1) to test whether deletion of Tsc1 in perinatal progenitor cells generates TSC lesions, and to get insights into the mechanisms of tuber formation; and (2) to study the mechanism of cortical hyperexcitability and identify abnormal glutamate receptor expression in Tsc1-null cells. We have accomplished the majority of aim 1. Using a novel technical approach (i.e., in vivo electroporation in mice with conditional and mutant alleles) we generated the first TSC animal model that replicates the discrete cortical lesions seen in humans." @default.
• W1549584529 created "2016-06-24" @default.
• W1549584529 creator A5036762812 @default.
• W1549584529 date "2012-07-01" @default.
• W1549584529 modified "2023-09-28" @default.
• W1549584529 title "Understanding the Etiology of Tuberous Sclerosis Complex" @default.
• W1549584529 cites W128472756 @default.
• W1549584529 cites W1486174444 @default.
• W1549584529 cites W1533346947 @default.
• W1549584529 cites W1578183568 @default.
• W1549584529 cites W1787988090 @default.
• W1549584529 cites W1923381385 @default.
• W1549584529 cites W1952006903 @default.
• W1549584529 cites W1963035817 @default.
• W1549584529 cites W1980286364 @default.
• W1549584529 cites W1982574163 @default.
• W1549584529 cites W1988345639 @default.
• W1549584529 cites W1989779456 @default.
• W1549584529 cites W1993581628 @default.
• W1549584529 cites W1997557640 @default.
• W1549584529 cites W2005387121 @default.
• W1549584529 cites W2005981206 @default.
• W1549584529 cites W2014381511 @default.
• W1549584529 cites W2016888102 @default.
• W1549584529 cites W2019278127 @default.
• W1549584529 cites W2020947746 @default.
• W1549584529 cites W2024191529 @default.
• W1549584529 cites W2026430274 @default.
• W1549584529 cites W2032403871 @default.
• W1549584529 cites W2032546548 @default.
• W1549584529 cites W2037371174 @default.
• W1549584529 cites W2045087922 @default.
• W1549584529 cites W2049318603 @default.
• W1549584529 cites W2051611889 @default.
• W1549584529 cites W2059979683 @default.
• W1549584529 cites W2069499439 @default.
• W1549584529 cites W2071676133 @default.
• W1549584529 cites W2074077310 @default.
• W1549584529 cites W2074133017 @default.
• W1549584529 cites W2074258117 @default.
• W1549584529 cites W2076268719 @default.
• W1549584529 cites W2076981502 @default.
• W1549584529 cites W2082937530 @default.
• W1549584529 cites W2083814561 @default.
• W1549584529 cites W2089756166 @default.
• W1549584529 cites W2094288030 @default.
• W1549584529 cites W2094484529 @default.
• W1549584529 cites W2097110051 @default.
• W1549584529 cites W2098475228 @default.
• W1549584529 cites W2104539995 @default.
• W1549584529 cites W2109996787 @default.
• W1549584529 cites W2110387447 @default.
• W1549584529 cites W2110785118 @default.
• W1549584529 cites W2112374487 @default.
• W1549584529 cites W2119979409 @default.
• W1549584529 cites W2121379737 @default.
• W1549584529 cites W2122025343 @default.
• W1549584529 cites W2123414692 @default.
• W1549584529 cites W2140657162 @default.
• W1549584529 cites W2154929390 @default.
• W1549584529 cites W2158154597 @default.
• W1549584529 cites W2160444874 @default.
• W1549584529 cites W2165177684 @default.
• W1549584529 cites W2169786878 @default.
• W1549584529 cites W2169931873 @default.
• W1549584529 cites W2170789149 @default.
• W1549584529 cites W2316048374 @default.
• W1549584529 cites W2383259826 @default.
• W1549584529 cites W57038779 @default.
• W1549584529 doi "https://doi.org/10.21236/ada566455" @default.
• W1549584529 hasPublicationYear "2012" @default.
• W1549584529 type Work @default.
• W1549584529 sameAs 1549584529 @default.
• W1549584529 citedByCount "0" @default.
• W1549584529 crossrefType "report" @default.
• W1549584529 hasAuthorship W1549584529A5036762812 @default.
• W1549584529 hasConcept C102230213 @default.
• W1549584529 hasConcept C104317684 @default.
• W1549584529 hasConcept C141035611 @default.
• W1549584529 hasConcept C142724271 @default.
• W1549584529 hasConcept C169760540 @default.
• W1549584529 hasConcept C190283241 @default.
• W1549584529 hasConcept C201750760 @default.
• W1549584529 hasConcept C2776773979 @default.
• W1549584529 hasConcept C2778980267 @default.
• W1549584529 hasConcept C2779422105 @default.
• W1549584529 hasConcept C28328180 @default.
• W1549584529 hasConcept C502942594 @default.
• W1549584529 hasConcept C54355233 @default.
• W1549584529 hasConcept C71924100 @default.
• W1549584529 hasConcept C86554907 @default.
• W1549584529 hasConcept C86803240 @default.
• W1549584529 hasConceptScore W1549584529C102230213 @default.
• W1549584529 hasConceptScore W1549584529C104317684 @default.
• W1549584529 hasConceptScore W1549584529C141035611 @default.
• W1549584529 hasConceptScore W1549584529C142724271 @default.
• W1549584529 hasConceptScore W1549584529C169760540 @default.
• W1549584529 hasConceptScore W1549584529C190283241 @default.
• W1549584529 hasConceptScore W1549584529C201750760 @default.
• W1549584529 hasConceptScore W1549584529C2776773979 @default.

• next