https://transhumanist.ru/index.php?action=history&feed=atom&title=TIAM1 2026-05-10T20:10:48Z История изменений этой страницы в вики MediaWiki 1.43.6 https://transhumanist.ru/index.php?title=TIAM1&diff=5404&oldid=prev 2021-05-12T13:42:30Z

<p>Новая страница: «T-lymphoma invasion and metastasis-inducing protein 1 (TIAM-1) ==Publications== {{medline-entry |title=Sequencing of neuroblastoma identifies chromothripsis and...»</p> <p><b>Новая страница</b></p><div>T-lymphoma invasion and metastasis-inducing protein 1 (TIAM-1)<br /> <br /> ==Publications==<br /> <br /> {{medline-entry<br /> |title=Sequencing of neuroblastoma identifies chromothripsis and defects in neuritogenesis genes.<br /> |pubmed-url=https://pubmed.ncbi.nlm.nih.gov/22367537<br /> |abstract=Neuroblastoma is a childhood tumour of the peripheral sympathetic nervous system. The pathogenesis has for a long time been quite enigmatic, as only very few gene defects were identified in this often lethal tumour. Frequently detected gene alterations are limited to [[MYCN]] amplification (20%) and [[ALK]] activations (7%). Here we present a whole-genome sequence analysis of 87 neuroblastoma of all stages. Few recurrent amino-acid-changing mutations were found. In contrast, analysis of structural defects identified a local shredding of chromosomes, known as chromothripsis, in 18% of high-stage neuroblastoma. These tumours are associated with a poor outcome. Structural alterations recurrently affected ODZ3, [[PTPRD]] and [[CSMD1]], which are involved in neuronal growth cone stabilization. In addition, [[ATRX]], [[TIAM1]] and a series of regulators of the Rac/Rho pathway were mutated, further implicating defects in neuritogenesis in neuroblastoma. Most tumours with defects in these genes were aggressive high-stage neuroblastomas, but did not carry [[MYCN]] amplifications. The genomic landscape of neuroblastoma therefore reveals two novel molecular defects, chromothripsis and neuritogenesis gene alterations, which frequently occur in high-risk tumours.<br /> |mesh-terms=* Aging<br /> * Chromosomes, Human<br /> * Cluster Analysis<br /> * DNA Helicases<br /> * DNA Mutational Analysis<br /> * Gene Expression Regulation, Neoplastic<br /> * Genome, Human<br /> * Growth Cones<br /> * Guanine Nucleotide Exchange Factors<br /> * Humans<br /> * Mutation<br /> * Neoplasm Staging<br /> * Neurites<br /> * Neuroblastoma<br /> * Nuclear Proteins<br /> * Prognosis<br /> * T-Lymphoma Invasion and Metastasis-inducing Protein 1<br /> * X-linked Nuclear Protein<br /> * rac GTP-Binding Proteins<br /> * rho GTP-Binding Proteins<br /> <br /> |full-text-url=https://sci-hub.do/10.1038/nature10910<br /> }}</div>

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