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Volumn 39, Issue 1, 2007, Pages 75-79

Erratum: Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome (Nature Genetics DOI: 10.1038/ng1939);Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome

(25)  Tartaglia, Marco a   Pennacchio, Len A b,c   Zhao, Chen d   Yadav, Kamlesh K d   Fodale, Valentina a   Sarkozy, Anna e,f   Pandit, Bhaswati g   Oishi, Kimihiko g   Martinelli, Simone a   Schackwitz, Wendy b,c   Ustaszewska, Anna b   Martin, Joel b,c   Bristow, James b,c   Carta, Claudio a   Lepri, Francesca e,f   Neri, Cinzia e,f   Vasta, Isabella h   Gibson, Kate i   Curry, Cynthia J j   Siguero, Juan Pedro López k   more..


Author keywords

[No Author keywords available]

Indexed keywords

GUANINE NUCLEOTIDE EXCHANGE FACTOR; KRAS PROTEIN; MITOGEN ACTIVATED PROTEIN KINASE; MUTANT PROTEIN; PROTEIN DERIVATIVE; PTPN11 PROTEIN; SOS PROTEIN; UNCLASSIFIED DRUG;

EID: 33845884026     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng0207-276a     Document Type: Erratum
Times cited : (483)

References (28)
  • 1
    • 0014337521 scopus 로고
    • Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease
    • Noonan, J.A. Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease. Am. J. Dis. Child. 116, 373-380 (1968).
    • (1968) Am. J. Dis. Child , vol.116 , pp. 373-380
    • Noonan, J.A.1
  • 2
    • 33745265268 scopus 로고    scopus 로고
    • Germline missense mutations affecting KRAS isoform B are associated with a severe Noonan syndrome phenotype
    • Carta, C. et al. Germline missense mutations affecting KRAS isoform B are associated with a severe Noonan syndrome phenotype. Am. J. Hum. Genet. 79, 129-135 (2006).
    • (2006) Am. J. Hum. Genet , vol.79 , pp. 129-135
    • Carta, C.1
  • 3
    • 1542619343 scopus 로고    scopus 로고
    • Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation
    • Fragale, A., Tartaglia, M., Wu, J. & Gelb, B.D. Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation. Hum. Mutat. 23, 267-277 (2004).
    • (2004) Hum. Mutat , vol.23 , pp. 267-277
    • Fragale, A.1    Tartaglia, M.2    Wu, J.3    Gelb, B.D.4
  • 4
    • 33644622238 scopus 로고    scopus 로고
    • Germline KRAS mutations cause Noonan syndrome
    • Schubbert, S. et al. Germline KRAS mutations cause Noonan syndrome. Nat. Genet. 38, 331-336 (2006).
    • (2006) Nat. Genet , vol.38 , pp. 331-336
    • Schubbert, S.1
  • 5
    • 18344370436 scopus 로고    scopus 로고
    • PTPN11 mutations in Noonan syndrome: Molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity
    • Tartaglia, M. et al. PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am. J. Hum. Genet. 70, 1555-1563 (2002).
    • (2002) Am. J. Hum. Genet , vol.70 , pp. 1555-1563
    • Tartaglia, M.1
  • 6
    • 18344385476 scopus 로고    scopus 로고
    • Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome
    • Tartaglia, M. et al. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat. Genet. 29, 465-468 (2001).
    • (2001) Nat. Genet , vol.29 , pp. 465-468
    • Tartaglia, M.1
  • 7
    • 24744465207 scopus 로고    scopus 로고
    • Diverse biochemical properties of Shp2 mutants: Implications for disease phenotypes
    • Keilhack, H., David, F.S., McGregor, M., Cantley, L.C. & Neel, B.G. Diverse biochemical properties of Shp2 mutants: implications for disease phenotypes. J. Biol. Chem. 280, 30984-30993 (2005).
    • (2005) J. Biol. Chem , vol.280 , pp. 30984-30993
    • Keilhack, H.1    David, F.S.2    McGregor, M.3    Cantley, L.C.4    Neel, B.G.5
  • 8
    • 31544452561 scopus 로고    scopus 로고
    • Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease
    • Tartaglia, M. et al. Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. Am. J. Hum. Genet. 78, 279-290 (2006).
    • (2006) Am. J. Hum. Genet , vol.78 , pp. 279-290
    • Tartaglia, M.1
  • 9
    • 0036074033 scopus 로고    scopus 로고
    • Grouping of multiple-Lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene
    • Digilio, M.C. et al. Grouping of multiple-Lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. Am. J. Hum. Genet. 71, 389-394 (2002).
    • (2002) Am. J. Hum. Genet , vol.71 , pp. 389-394
    • Digilio, M.C.1
  • 10
    • 0036340975 scopus 로고    scopus 로고
    • PTPN11 mutations in LEOPARD syndrome
    • Legius, E. et al. PTPN11 mutations in LEOPARD syndrome. J. Med. Genet. 39, 571-574 (2002).
    • (2002) J. Med. Genet , vol.39 , pp. 571-574
    • Legius, E.1
  • 11
    • 27144531386 scopus 로고    scopus 로고
    • Germline mutations in HRAS proto-oncogene cause Costello syndrome
    • Aoki, Y. et al. Germline mutations in HRAS proto-oncogene cause Costello syndrome. Nat. Genet. 37, 1038-1040 (2005).
    • (2005) Nat. Genet , vol.37 , pp. 1038-1040
    • Aoki, Y.1
  • 12
    • 33644629727 scopus 로고    scopus 로고
    • Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
    • Niihori, T. et al. Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat. Genet. 38, 294-296 (2006).
    • (2006) Nat. Genet , vol.38 , pp. 294-296
    • Niihori, T.1
  • 13
    • 33644696097 scopus 로고    scopus 로고
    • Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome
    • Rodriguez-Viciana, P. et al. Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. Science 311, 1287-1290 (2006).
    • (2006) Science , vol.311 , pp. 1287-1290
    • Rodriguez-Viciana, P.1
  • 16
    • 28044449725 scopus 로고    scopus 로고
    • Computational docking and solution x-ray scattering predict a membrane-interacting role for the histone domain of the Ras activator son of sevenless
    • Sondermann, H., Nagar, B., Bar-Sagi, D. & Kuriyan, J. Computational docking and solution x-ray scattering predict a membrane-interacting role for the histone domain of the Ras activator son of sevenless. Proc. Natl. Acad. Sci. USA 102, 16632-16637 (2005).
    • (2005) Proc. Natl. Acad. Sci. USA , vol.102 , pp. 16632-16637
    • Sondermann, H.1    Nagar, B.2    Bar-Sagi, D.3    Kuriyan, J.4
  • 17
    • 7044226349 scopus 로고    scopus 로고
    • Structural analysis of autoinhibition in the Ras activator Son of sevenless
    • Sondermann, H. et al. Structural analysis of autoinhibition in the Ras activator Son of sevenless. Cell 119, 393-405 (2004).
    • (2004) Cell , vol.119 , pp. 393-405
    • Sondermann, H.1
  • 18
    • 0344885558 scopus 로고    scopus 로고
    • Structural evidence for feedback activation by Ras.GTP of the Ras-specific nucleotide exchange factor SOS
    • Margarit, S.M. et al. Structural evidence for feedback activation by Ras.GTP of the Ras-specific nucleotide exchange factor SOS. Cell 112, 685-695 (2003).
    • (2003) Cell , vol.112 , pp. 685-695
    • Margarit, S.M.1
  • 19
    • 0036201303 scopus 로고    scopus 로고
    • A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1
    • Hart, T.C. et al. A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1. Am. J. Hum. Genet. 70, 943-954 (2002).
    • (2002) Am. J. Hum. Genet , vol.70 , pp. 943-954
    • Hart, T.C.1
  • 20
    • 0034651705 scopus 로고    scopus 로고
    • The Sos1 and Sos2 Ras-specific exchange factors: Differences in placental expression and signaling properties
    • Qian, X. et al. The Sos1 and Sos2 Ras-specific exchange factors: differences in placental expression and signaling properties. EMBO J. 19, 642-654 (2000).
    • (2000) EMBO J , vol.19 , pp. 642-654
    • Qian, X.1
  • 21
    • 0031043507 scopus 로고    scopus 로고
    • Mutation in Sos1 dominantly enhances a weak allele of the EGFR, demonstrating a requirement for Sos1 in EGFR signaling and development
    • Wang, D.Z. et al. Mutation in Sos1 dominantly enhances a weak allele of the EGFR, demonstrating a requirement for Sos1 in EGFR signaling and development. Genes Dev. 11, 309-320 (1997).
    • (1997) Genes Dev , vol.11 , pp. 309-320
    • Wang, D.Z.1
  • 22
    • 0034697962 scopus 로고    scopus 로고
    • The EGF receptor provides an essential survival signal for SOS-dependent skin tumor development
    • Sibilia, M. et al. The EGF receptor provides an essential survival signal for SOS-dependent skin tumor development. Cell 102, 211-220 (2000).
    • (2000) Cell , vol.102 , pp. 211-220
    • Sibilia, M.1
  • 23
    • 0032493812 scopus 로고    scopus 로고
    • Increasing complexity of the Ras signaling pathway
    • Vojtek, A.B. & Der, C.J. Increasing complexity of the Ras signaling pathway. J. Biol. Chem. 273, 19925-19928 (1998).
    • (1998) J. Biol. Chem , vol.273 , pp. 19925-19928
    • Vojtek, A.B.1    Der, C.J.2
  • 24
    • 0032559211 scopus 로고    scopus 로고
    • Coupling of Ras and Rac guanosine triphosphatases through the Ras exchanger Sos
    • Nimnual, A.S., Yatsula, B.A. & Bar-Sagi, D. Coupling of Ras and Rac guanosine triphosphatases through the Ras exchanger Sos. Science 279, 560-563 (1998).
    • (1998) Science , vol.279 , pp. 560-563
    • Nimnual, A.S.1    Yatsula, B.A.2    Bar-Sagi, D.3
  • 25
    • 0026627960 scopus 로고
    • Identification of murine homologues of the Drosophila son of sevenless gene: Potential activators of ras
    • Bowtell, D., Fu, P., Simon, M. & Senior, P. Identification of murine homologues of the Drosophila son of sevenless gene: potential activators of ras. Proc. Natl. Acad. Sci. USA 89, 6511-6515 (1992).
    • (1992) Proc. Natl. Acad. Sci. USA , vol.89 , pp. 6511-6515
    • Bowtell, D.1    Fu, P.2    Simon, M.3    Senior, P.4
  • 26
    • 0029132697 scopus 로고
    • Differential interactions of human Sos1 and Sos2 with Grb2
    • Yang, S.S., Van Aelst, L. & Bar-Sagi, D. Differential interactions of human Sos1 and Sos2 with Grb2. J. Biol. Chem. 270, 18212-18215 (1995).
    • (1995) J. Biol. Chem , vol.270 , pp. 18212-18215
    • Yang, S.S.1    Van Aelst, L.2    Bar-Sagi, D.3
  • 27
    • 0036842950 scopus 로고    scopus 로고
    • Detecting polymorphisms and mutations in candidate genes
    • Collins, J.S. & Schwartz, C.E. Detecting polymorphisms and mutations in candidate genes. Am. J. Hum. Genet. 71, 1251-1252 (2002).
    • (2002) Am. J. Hum. Genet , vol.71 , pp. 1251-1252
    • Collins, J.S.1    Schwartz, C.E.2


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