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Volumn 14, Issue 3, 2010, Pages 425-432

PTPN11 and KRAS gene analysis in patients with noonan and noonan-like syndromes

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN TYROSINE PHOSPHATASE SHP 2; KRAS PROTEIN, HUMAN; ONCOPROTEIN; PTPN11 PROTEIN, HUMAN; RAS PROTEIN;

EID: 77954937826     PISSN: 19450265     EISSN: 19450257     Source Type: Journal    
DOI: 10.1089/gtmb.2009.0192     Document Type: Article
Times cited : (27)

References (53)
  • 1
    • 27144531386 scopus 로고    scopus 로고
    • Germline mutations in HRAS proto-oncogene cause Costello syndrome
    • Aoki Y, Niihori T, Kawame H, et al. (2005) Germline mutations in HRAS proto-oncogene cause Costello syndrome. Nat Genet 37:1038-1040.
    • (2005) Nat Genet , vol.37 , pp. 1038-1040
    • Aoki, Y.1    Niihori, T.2    Kawame, H.3
  • 2
    • 49149115868 scopus 로고    scopus 로고
    • The RAS/MAPK syndromes: Novel roles of the RAS pathway in human genetic disorders
    • Aoki Y, Niihori T, Narumi Y, et al. (2008) The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders. Hum Mutat 29:992-1006.
    • (2008) Hum Mutat , vol.29 , pp. 992-1006
    • Aoki, Y.1    Niihori, T.2    Narumi, Y.3
  • 3
    • 33845191047 scopus 로고    scopus 로고
    • PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype
    • Bertola DR, Pereira AC, Albano LM, et al. (2006) PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype. Genet Test 10:186-191.
    • (2006) Genet Test , vol.10 , pp. 186-191
    • Bertola, D.R.1    Pereira, A.C.2    Albano, L.M.3
  • 4
    • 34249669335 scopus 로고    scopus 로고
    • Further evidence of genetic heterogeneity in Costello syndrome: Involvement of the KRAS gene
    • Bertola DR, Pereira AC, Brasil AS, et al. (2007) Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene. J Hum Genet 52:521-526.
    • (2007) J Hum Genet , vol.52 , pp. 521-526
    • Bertola, D.R.1    Pereira, A.C.2    Brasil, A.S.3
  • 5
    • 22044435794 scopus 로고    scopus 로고
    • Neurofibromatosis-Noonan syndrome: Molecular evidence of the concurrence of both disorders in a patient
    • Bertola DR, Pereira AC, Passetti F, et al. (2005) Neurofibromatosis- Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient. Am J Med Genet A 136:242-245.
    • (2005) Am J Med Genet A , vol.136 , pp. 242-245
    • Bertola, D.R.1    Pereira, A.C.2    Passetti, F.3
  • 6
    • 33745265268 scopus 로고    scopus 로고
    • Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype
    • Carta C,PantaleoniF,BocchinfusoG,et al.(2006) Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype. Am J Hum Genet 79:129-135.
    • (2006) Am J Hum Genet , vol.79 , pp. 129-135
    • Carta, C.1    Pantaleoni, F.2    Bocchinfuso, G.3
  • 8
    • 28144437387 scopus 로고    scopus 로고
    • NF1 gene mutations represent the major molecular event underlying neurofibro-matosis-Noonan syndrome
    • De Luca A, Bottillo I, Sarkozy A, et al. (2005) NF1 gene mutations represent the major molecular event underlying neurofibro-matosis-Noonan syndrome. Am J Hum Genet 77:1092-1101.
    • (2005) Am J Hum Genet , vol.77 , pp. 1092-1101
    • De Luca, A.1    Bottillo, I.2    Sarkozy, A.3
  • 9
    • 0036074033 scopus 로고    scopus 로고
    • Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene
    • Digilio MC, Conti E, Sarkozy A, et al. (2002) Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. Am J Hum Genet 71:389-394.
    • (2002) Am J Hum Genet , vol.71 , pp. 389-394
    • Digilio, M.C.1    Conti, E.2    Sarkozy, A.3
  • 10
    • 67650046461 scopus 로고    scopus 로고
    • Three novel CFTR polymorphic repeats improve segregation analysis for cystic fibrosis
    • Elce A, Boccia A, Cardillo G, et al. (2009) Three novel CFTR polymorphic repeats improve segregation analysis for cystic fibrosis. Clin Chem 55:1372-1379.
    • (2009) Clin Chem , vol.55 , pp. 1372-1379
    • Elce, A.1    Boccia, A.2    Cardillo, G.3
  • 12
    • 56649102280 scopus 로고    scopus 로고
    • Clinical and molecular characterization of 40 patients with Noonan syndrome
    • Ferrero GB, Baldassarre G, Delmonaco AG, et al. (2008) Clinical and molecular characterization of 40 patients with Noonan syndrome. Eur J Med Genet 51:566-572.
    • (2008) Eur J Med Genet , vol.51 , pp. 566-572
    • Ferrero, G.B.1    Baldassarre, G.2    Delmonaco, A.G.3
  • 13
    • 84925565862 scopus 로고    scopus 로고
    • GeneBee\Molecular Biology Server (2009) RNA secondary structure prediction. www.genebee.msu.su/services/rna2-reduced.html
    • (2009) RNA Secondary Structure Prediction
  • 15
    • 23444433362 scopus 로고    scopus 로고
    • Tumor predisposition in Costello syndrome
    • Gripp KW (2005) Tumor predisposition in Costello syndrome. Am J Med Genet C Semin Med Genet 137C:72-77.
    • (2005) Am J Med Genet C Semin Med Genet , vol.137 C , pp. 72-77
    • Gripp, K.W.1
  • 16
    • 0036820791 scopus 로고    scopus 로고
    • Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome
    • Ion A, Tartaglia M, Song X, et al. (2002) Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome. Hum Genet 111:421-427.
    • (2002) Hum Genet , vol.111 , pp. 421-427
    • Ion, A.1    Tartaglia, M.2    Song, X.3
  • 17
    • 13844292608 scopus 로고    scopus 로고
    • Genetic heterogeneity in LEOPARD syndrome: Two families with no mutations in PTPN11
    • Kalidas K, Shaw AC, Crosby AH, et al. (2005) Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11. J Hum Genet 50:21-25.
    • (2005) J Hum Genet , vol.50 , pp. 21-25
    • Kalidas, K.1    Shaw, A.C.2    Crosby, A.H.3
  • 18
    • 0037262090 scopus 로고    scopus 로고
    • PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome
    • Kavamura MI, Pomponi MG, Zollino M, et al. (2003) PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome. Eur J Hum Genet 11:64-68.
    • (2003) Eur J Hum Genet , vol.11 , pp. 64-68
    • Kavamura, M.I.1    Pomponi, M.G.2    Zollino, M.3
  • 19
    • 18844449616 scopus 로고    scopus 로고
    • PTPN11 mutations in patients with LEOPARD syndrome: A French multicentric experience
    • Keren B, Hadchouel A, Saba S, et al. (2004) PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience. J Med Genet 41:e117.
    • (2004) J Med Genet , vol.41
    • Keren, B.1    Hadchouel, A.2    Saba, S.3
  • 20
    • 33646417908 scopus 로고    scopus 로고
    • Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases
    • Kerr B, Delrue MA, Sigaudy S, et al. (2006) Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. J Med Genet 43:401-405.
    • (2006) J Med Genet , vol.43 , pp. 401-405
    • Kerr, B.1    Delrue, M.A.2    Sigaudy, S.3
  • 21
    • 57349108541 scopus 로고    scopus 로고
    • PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome
    • Ko JM, Kim JM, Kim GH, Yoo HW (2008) PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. J Hum Genet 53:999-1006.
    • (2008) J Hum Genet , vol.53 , pp. 999-1006
    • Ko, J.M.1    Kim, J.M.2    Kim, G.H.3    Yoo, H.W.4
  • 22
    • 34547873968 scopus 로고    scopus 로고
    • Mutation analysis of the genes involved in the Ras-mitogen-activated protein kinase (MAPK) pathway in Korean patients with Noonan syndrome
    • Lee ST, Ki CS, Lee HJ (2007) Mutation analysis of the genes involved in the Ras-mitogen-activated protein kinase (MAPK) pathway in Korean patients with Noonan syndrome. Clin Genet 72:150-155.
    • (2007) Clin Genet , vol.72 , pp. 150-155
    • Lee, S.T.1    Ki, C.S.2    Lee, H.J.3
  • 23
    • 67249164861 scopus 로고    scopus 로고
    • IL1B polymorphisms modulate cystic fibrosis lung disease
    • Levy H, Murphy A, Zou F, et al. (2009) IL1B polymorphisms modulate cystic fibrosis lung disease. Pediatr Pulmonol 44: 580-593.
    • (2009) Pediatr Pulmonol , vol.44 , pp. 580-593
    • Levy, H.1    Murphy, A.2    Zou, F.3
  • 24
    • 67449127851 scopus 로고    scopus 로고
    • Noonan syndrome caused by germline KRAS mutation in Taiwan: Report of two patients and a review of the literature
    • Lo FS, Lin JL, Kuo MT, et al. (2009) Noonan syndrome caused by germline KRAS mutation in Taiwan: report of two patients and a review of the literature. Eur J Pediatr 168:919-923.
    • (2009) Eur J Pediatr , vol.168 , pp. 919-923
    • Lo, F.S.1    Lin, J.L.2    Kuo, M.T.3
  • 25
    • 50349097935 scopus 로고    scopus 로고
    • Metabolic syndrome determinants in an urban population from Brazil: Social class and gender-specific interaction
    • Marquezine GF, Oliveira CM, Pereira AC, et al. (2008) Metabolic syndrome determinants in an urban population from Brazil: social class and gender-specific interaction. Int J Cardiol 129: 259-265.
    • (2008) Int J Cardiol , vol.129 , pp. 259-265
    • Marquezine, G.F.1    Oliveira, C.M.2    Pereira, A.C.3
  • 26
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215.
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 27
    • 0037300995 scopus 로고    scopus 로고
    • Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome
    • Musante L, Kehl HG, Majewski F, et al. (2003) Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome. Eur J Hum Genet 11: 201-206.
    • (2003) Eur J Hum Genet , vol.11 , pp. 201-206
    • Musante, L.1    Kehl, H.G.2    Majewski, F.3
  • 28
    • 37249013316 scopus 로고    scopus 로고
    • Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: Genotype-phenotype relationships and overlap with Costello syndrome
    • Nava C, Hanna N, Michot C, et al. (2007) Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. J Med Genet 44:763-771.
    • (2007) J Med Genet , vol.44 , pp. 763-771
    • Nava, C.1    Hanna, N.2    Michot, C.3
  • 29
    • 33644629727 scopus 로고    scopus 로고
    • Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
    • Niihori T, Aoki Y, Narumi Y, et al. (2006) Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat Genet 38:294-296.
    • (2006) Nat Genet , vol.38 , pp. 294-296
    • Niihori, T.1    Aoki, Y.2    Narumi, Y.3
  • 30
    • 0027993959 scopus 로고
    • Noonan syndrome. An update and review for the primary pediatrician
    • Noonan JA (1994) Noonan syndrome. An update and review for the primary pediatrician. Clin Pediatr (Phila) 33:548-555.
    • (1994) Clin Pediatr (Phila) , vol.33 , pp. 548-555
    • Noonan, J.A.1
  • 31
    • 50049116085 scopus 로고    scopus 로고
    • Noonan and cardio-facio-cutaneous syndromes: Two clinically and genetically overlapping disorders
    • Nystrom AM, Ekvall S, Berglund E, et al. (2008) Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders. J Med Genet 45:500-506.
    • (2008) J Med Genet , vol.45 , pp. 500-506
    • Nystrom, A.M.1    Ekvall, S.2    Berglund, E.3
  • 32
    • 34547530823 scopus 로고    scopus 로고
    • Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy
    • Pandit B, Sarkozy A, Pennacchio LA, et al. (2007) Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nat Genet 39: 1007-1012.
    • (2007) Nat Genet , vol.39 , pp. 1007-1012
    • Pandit, B.1    Sarkozy, A.2    Pennacchio, L.A.3
  • 33
    • 0141928183 scopus 로고    scopus 로고
    • Beta2 adreno-ceptor functional gene variants, obesity, and blood pressure level interactions in the general population
    • Pereira AC, Floriano MS, Mota GF, et al. (2003a) Beta2 adreno-ceptor functional gene variants, obesity, and blood pressure level interactions in the general population. Hypertension 42:685-692.
    • (2003) Hypertension , vol.42 , pp. 685-692
    • Pereira, A.C.1    Floriano, M.S.2    Mota, G.F.3
  • 34
    • 0037217390 scopus 로고    scopus 로고
    • Angiotensinogen 235T allele "dosage" is associated with blood pressure phe-notypes
    • Pereira AC, Mota GF, Cunha RS, et al. (2003b) Angiotensinogen 235T allele "dosage" is associated with blood pressure phe-notypes. Hypertension 41:25-30.
    • (2003) Hypertension , vol.41 , pp. 25-30
    • Pereira, A.C.1    Mota, G.F.2    Cunha, R.S.3
  • 35
    • 84925562631 scopus 로고    scopus 로고
    • Polyphen European Molecular Biology Laboratory, Heidelberg, Germany
    • Polyphen (2009) (Polymorphism phenotyping) at European Molecular Biology Laboratory, Heidelberg, Germany. http://genetics.bwh.harvard.edu/pph/
    • (2009) Polymorphism Phenotyping
  • 36
    • 34547539552 scopus 로고    scopus 로고
    • Germline gain-of-function mutations in RAF1 cause Noonan syndrome
    • Razzaque MA, Nishizawa T, Komoike Y, et al. (2007) Germline gain-of-function mutations in RAF1 cause Noonan syndrome. Nat Genet 39:1013-1017.
    • (2007) Nat Genet , vol.39 , pp. 1013-1017
    • Razzaque, M.A.1    Nishizawa, T.2    Komoike, Y.3
  • 37
    • 33644696097 scopus 로고    scopus 로고
    • Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome
    • Rodriguez-Viciana P, Tetsu O, Tidyman WE, et al. (2006) Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. Science 311:1287-1290.
    • (2006) Science , vol.311 , pp. 1287-1290
    • Rodriguez-Viciana, P.1    Tetsu, O.2    Tidyman, W.E.3
  • 38
    • 63749111765 scopus 로고    scopus 로고
    • Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum
    • Sarkozy A, Carta C, Moretti S, et al. (2009) Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. Hum Mutat 30:695-702.
    • (2009) Hum Mutat , vol.30 , pp. 695-702
    • Sarkozy, A.1    Carta, C.2    Moretti, S.3
  • 40
    • 33644622238 scopus 로고    scopus 로고
    • Germline KRAS mutations cause Noonan syndrome
    • Schubbert S, Zenker M, Rowe SL, et al. (2006) Germline KRAS mutations cause Noonan syndrome. Nat Genet 38:331-336.
    • (2006) Nat Genet , vol.38 , pp. 331-336
    • Schubbert, S.1    Zenker, M.2    Rowe, S.L.3
  • 41
    • 36148961270 scopus 로고    scopus 로고
    • Malignant melanoma in a woman with LEOPARD syndrome: Identification of a germline PTPN11 mutation and a somatic BRAF mutation
    • Seishima M, Mizutani Y, Shibuya Y, et al. (2007) Malignant melanoma in a woman with LEOPARD syndrome: identification of a germline PTPN11 mutation and a somatic BRAF mutation. Br J Dermatol 157:1297-1299.
    • (2007) Br J Dermatol , vol.157 , pp. 1297-1299
    • Seishima, M.1    Mizutani, Y.2    Shibuya, Y.3
  • 43
    • 36049018067 scopus 로고    scopus 로고
    • De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features
    • Sovik O, Schubbert S, Houge G, et al. (2007) De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features. J Med Genet 44:e84.
    • (2007) J Med Genet , vol.44
    • Sovik, O.1    Schubbert, S.2    Houge, G.3
  • 44
    • 0035869223 scopus 로고    scopus 로고
    • Prediction of deleterious human alleles
    • Sunyaev S, Ramensky V, Koch I, et al. (2001) Prediction of deleterious human alleles. Hum Mol Genet 10:591-597.
    • (2001) Hum Mol Genet , vol.10 , pp. 591-597
    • Sunyaev, S.1    Ramensky, V.2    Koch, I.3
  • 45
    • 18344370436 scopus 로고    scopus 로고
    • PTPN11 mutations in Noonan syndrome: Molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity
    • Tartaglia M, Kalidas K, Shaw A, et al. (2002) PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet 70:1555-1563.
    • (2002) Am J Hum Genet , vol.70 , pp. 1555-1563
    • Tartaglia, M.1    Kalidas, K.2    Shaw, A.3
  • 46
    • 18344385476 scopus 로고    scopus 로고
    • Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome
    • Tartaglia M, Mehler EL, Goldberg R, et al. (2001) Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 29:465-468.
    • (2001) Nat Genet , vol.29 , pp. 465-468
    • Tartaglia, M.1    Mehler, E.L.2    Goldberg, R.3
  • 47
    • 33845884026 scopus 로고    scopus 로고
    • Gain-of-func-tion SOS1 mutations cause a distinctive form of Noonan syndrome
    • Tartaglia M, Pennacchio LA, Zhao C, et al. (2007) Gain-of-func-tion SOS1 mutations cause a distinctive form of Noonan syndrome. Nat Genet 39:75-79.
    • (2007) Nat Genet , vol.39 , pp. 75-79
    • Tartaglia, M.1    Pennacchio, L.A.2    Zhao, C.3
  • 48
    • 66349130438 scopus 로고    scopus 로고
    • Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome
    • Thiel C, Wilken M, Zenker M, et al. (2009) Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome. Am J Med Genet A 149A:1263-1267.
    • (2009) Am J Med Genet A 149A , pp. 1263-1267
    • Thiel, C.1    Wilken, M.2    Zenker, M.3
  • 49
    • 0028127042 scopus 로고
    • Clinical and molecular studies in a large Dutch family with Noonan syndrome
    • van der Burgt I, Berends E, Lommen E, et al. (1994) Clinical and molecular studies in a large Dutch family with Noonan syndrome. Am J Med Genet 53:187-191.
    • (1994) Am J Med Genet , vol.53 , pp. 187-191
    • Van Der Burgt, I.1    Berends, E.2    Lommen, E.3
  • 51
    • 3242739935 scopus 로고    scopus 로고
    • Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome
    • Yoshida R, Hasegawa T, Hasegawa Y, et al. (2004) Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome. J Clin Endocrinol Metab 89:3359-3364.
    • (2004) J Clin Endocrinol Metab , vol.89 , pp. 3359-3364
    • Yoshida, R.1    Hasegawa, T.2    Hasegawa, Y.3
  • 52
    • 12144286459 scopus 로고    scopus 로고
    • Genotype-phenotype correlations in Noonan syndrome
    • Zenker M, Buheitel G, Rauch R, et al. (2004) Genotype-phenotype correlations in Noonan syndrome. J Pediatr 144:368-374.
    • (2004) J Pediatr , vol.144 , pp. 368-374
    • Zenker, M.1    Buheitel, G.2    Rauch, R.3
  • 53
    • 33847248863 scopus 로고    scopus 로고
    • Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations
    • Zenker M, Lehmann K, Schulz AL, et al. (2007) Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. J Med Genet 44:131-135.
    • (2007) J Med Genet , vol.44 , pp. 131-135
    • Zenker, M.1    Lehmann, K.2    Schulz, A.L.3


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