caa a22 4500 463254872 CHVBK 20180405153352.0 cr unu---uuuuu 170326e20070201xx s 000 0 eng 10.1007/s10571-006-9106-0 doi (NATIONALLICENCE)springer-10.1007/s10571-006-9106-0 Giant Cells: Contradiction to Two-Hit Model of Tuber Formation? [Elektronische Daten] [Jaroslaw Jozwiak, Sergiusz Jozwiak] Tuberous sclerosis (TSC) is an autosomal dominant disease characterized by the formation of hamartomatous lesions in many organs, including brain, heart or kidneys. It has been found that TSC is caused by the mutation in one of the two tumor suppressor genes: TSC1 or TSC2, encoding hamartin and tuberin, respectively. According to Knudson's two-hit model of tumorigenesis, second-hit mutation and resulting loss of heterozygosity (LOH) of a tumor suppressor gene is necessary for tumor formation. In fact, LOH is commonly found in several types of hamartomas formed in the process of tuberous sclerosis, but, interestingly, not in brain lesions, containing characteristic giant cells. In this paper, we review literature covering origination of giant cells and present several hypotheses explaining why in spite of the presence of hamartin and tuberin, brain lesions form in TSC patients. Springer Science+Business Media, Inc., 2006 giant cells nationallicence loss of heterozygosity nationallicence SEGA nationallicence Jozwiak Jaroslaw Department of Histology and Embryology, Center for Biostructure Research, Medical University of Warsaw ul., Chalubinskiego, 502-004, Warsaw, Poland aut Jozwiak Sergiusz Department of Pediatric Neurology, Children's Memorial Hospital, Warsaw, Poland aut Cellular and Molecular Neurobiology Kluwer Academic Publishers-Plenum Publishers; http://www.springer-ny.com 27/2(2007-02-01), 251-261 0272-4340 27:2<251 2007 27 10571 https://doi.org/10.1007/s10571-006-9106-0 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10571-006-9106-0 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Jozwiak Jaroslaw Department of Histology and Embryology, Center for Biostructure Research, Medical University of Warsaw ul., Chalubinskiego, 502-004, Warsaw, Poland aut NATIONALLICENCE 700 1- Jozwiak Sergiusz Department of Pediatric Neurology, Children's Memorial Hospital, Warsaw, Poland aut NATIONALLICENCE 773 0- Cellular and Molecular Neurobiology Kluwer Academic Publishers-Plenum Publishers; http://www.springer-ny.com 27/2(2007-02-01), 251-261 0272-4340 27:2<251 2007 27 10571 Metadata rights reserved Springer special CC-BY-NC licence nationallicence SWISSBIB 463254872 BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer