loading...| Preferred Name |
Signaling by activated point mutants of FGFR1 |
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| Synonyms |
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| Definitions |
Unlike other FGFR2 and 3, FGFR1 appears not to be a frequent target of activating point mutations (reviewed in Wesche, 2011; Turner and Grose, 2010). Germline point mutations at residue P252 have been identified in Pfeiffer syndrome (reviewed in Webster and Donoghue, 1997; Burke, 1998; Cunningham, 2007) while mutation of the same residue arising somatically has been identified in melanoma and lung cancer (Ruhe, 2007; Davies, 2005). Two kinase domain mutations have been characterized in glioblastoma (Rand, 2005; Network TCGA, 2008), both at positions that are also mutated in an autosomal disorder in one of the FGFR family members (Muenke, 1994; Bellus, 1995a; Bellus, 2000; Tavormina, 1995a; Tavormina, 1999). Edited: Rothfels, K, 2012-05-16 Authored: Rothfels, K, 2012-02-09 Reviewed: Ezzat, S, 2012-05-15 |
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| ID |
http://purl.obolibrary.org/obo/HINO_0016291 |
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| comment |
Unlike other FGFR2 and 3, FGFR1 appears not to be a frequent target of activating point mutations (reviewed in Wesche, 2011; Turner and Grose, 2010). Germline point mutations at residue P252 have been identified in Pfeiffer syndrome (reviewed in Webster and Donoghue, 1997; Burke, 1998; Cunningham, 2007) while mutation of the same residue arising somatically has been identified in melanoma and lung cancer (Ruhe, 2007; Davies, 2005). Two kinase domain mutations have been characterized in glioblastoma (Rand, 2005; Network TCGA, 2008), both at positions that are also mutated in an autosomal disorder in one of the FGFR family members (Muenke, 1994; Bellus, 1995a; Bellus, 2000; Tavormina, 1995a; Tavormina, 1999). Edited: Rothfels, K, 2012-05-16 Authored: Rothfels, K, 2012-02-09 Reviewed: Ezzat, S, 2012-05-15 |
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| definition source |
Pubmed17552943 Pubmed7874169 Pubmed9154000 Pubmed16140923 Pubmed18772890 Reactome, http://www.reactome.org Pubmed18056464 Pubmed11055896 Pubmed9538690 Pubmed16186508 Pubmed21711248 Pubmed20094046 Pubmed10053006 Pubmed7670477 Pubmed7773297 |
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| label |
Signaling by activated point mutants of FGFR1 |
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| located_in | ||
| prefixIRI |
HINO:0016291 |
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| prefLabel |
Signaling by activated point mutants of FGFR1 |
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| seeAlso |
Reactome Database ID Release 431839122 ReactomeREACT_121153 |
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| subClassOf | ||
| has_part |
http://purl.obolibrary.org/obo/HINO_0008120 http://purl.obolibrary.org/obo/HINO_0008121 |