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Volumn 19, Issue 6, 2007, Pages 636-644

Costello syndrome and related disorders

Author keywords

Hypertrophic cardiomyopathy; Myopathy; Rhabdomyosarcoma; Tachycardia

Indexed keywords

GENE PRODUCT; MITOGEN ACTIVATED PROTEIN KINASE;

EID: 36348968826     PISSN: 10408703     EISSN: None     Source Type: Journal    
DOI: 10.1097/MOP.0b013e3282f161dc     Document Type: Review
Times cited : (42)

References (54)
  • 1
    • 36348935722 scopus 로고    scopus 로고
    • Gripp K, Lin A. Costello syndrome: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Seattle: University of Washington; 2006. Available at http://www.genetests.org. This is a clinically relevant and updated description of Costello syndrome. This website provides basic and detailed information on genetic disorders, including laboratory options for genetic testing.
    • Gripp K, Lin A. Costello syndrome: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Seattle: University of Washington; 2006. Available at http://www.genetests.org. This is a clinically relevant and updated description of Costello syndrome. This website provides basic and detailed information on genetic disorders, including laboratory options for genetic testing.
  • 2
    • 0042306238 scopus 로고    scopus 로고
    • Costello syndrome: An overview
    • Hennekam RCM. Costello syndrome: an overview. Am J Med Genet 2003; 117C:42-48.
    • (2003) Am J Med Genet , vol.117 C , pp. 42-48
    • Hennekam, R.C.M.1
  • 3
    • 23444433362 scopus 로고    scopus 로고
    • Tumor predisposition in Costello syndrome
    • Gripp KW. Tumor predisposition in Costello syndrome. Am J Med Genet 2005; 137C:72-77.
    • (2005) Am J Med Genet , vol.137 C , pp. 72-77
    • Gripp, K.W.1
  • 4
    • 0037082975 scopus 로고    scopus 로고
    • Five additional Costello syndrome patients with rhabdomyosarcoma: Proposal for a tumor screening protocol
    • Gripp KW, Scott CI Jr, Nicholson L, et al. Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol. Am J Med Genet 2002; 108:80-87.
    • (2002) Am J Med Genet , vol.108 , pp. 80-87
    • Gripp, K.W.1    Scott Jr, C.I.2    Nicholson, L.3
  • 5
    • 36349010336 scopus 로고    scopus 로고
    • Rauen K. Cardio-facio-cutaneous syndrome: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Seattle: University of Washington; 2006. Available at http://www.genetests.org. This is a clinically relevant and updated description of CFC syndrome. This website provides basic and detailed information on genetic disorders, including laboratory options for genetic testing.
    • Rauen K. Cardio-facio-cutaneous syndrome: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Seattle: University of Washington; 2006. Available at http://www.genetests.org. This is a clinically relevant and updated description of CFC syndrome. This website provides basic and detailed information on genetic disorders, including laboratory options for genetic testing.
  • 6
    • 36348936287 scopus 로고    scopus 로고
    • Allanson JE. Noonan syndrome: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Seattle: University of Washington; 2006. Available at http://www.genetests.org. This is a clinically relevant and updated description of Noonan syndrome. This website provides basic and detailed information on genetic disorders, including laboratory options for genetic testing.
    • Allanson JE. Noonan syndrome: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Seattle: University of Washington; 2006. Available at http://www.genetests.org. This is a clinically relevant and updated description of Noonan syndrome. This website provides basic and detailed information on genetic disorders, including laboratory options for genetic testing.
  • 8
    • 4344686732 scopus 로고    scopus 로고
    • Costello syndrome with growth hormone deficiency and hypoglycemia: A new report and review of the endocrine associations
    • Gregersen N, Viljoen D. Costello syndrome with growth hormone deficiency and hypoglycemia: a new report and review of the endocrine associations. Am J Med Genet 2004; 129A:171-175.
    • (2004) Am J Med Genet , vol.129 A , pp. 171-175
    • Gregersen, N.1    Viljoen, D.2
  • 9
    • 28444482090 scopus 로고    scopus 로고
    • Costello syndrome and hyperinsulinemic hypoglycemia
    • Alexander S, Ramadan D, Alkhayyat H, et al. Costello syndrome and hyperinsulinemic hypoglycemia. Am J Med Genet 2005; 139A:227-230.
    • (2005) Am J Med Genet , vol.139 A , pp. 227-230
    • Alexander, S.1    Ramadan, D.2    Alkhayyat, H.3
  • 12
    • 30144433531 scopus 로고    scopus 로고
    • Gripp KW, Lin AE, Stabley DL, et al. HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. Am J Med Genet 2006; 140A:1-7.
    • Gripp KW, Lin AE, Stabley DL, et al. HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. Am J Med Genet 2006; 140A:1-7.
  • 13
    • 3342998363 scopus 로고    scopus 로고
    • Adaptive skills, cognitive, and behavioral characteristics of Costello syndrome
    • Axelrad ME, Glidden R, Nicholson L, Gripp KW. Adaptive skills, cognitive, and behavioral characteristics of Costello syndrome. Am J Med Genet 2004; 128A:396-400.
    • (2004) Am J Med Genet , vol.128 A , pp. 396-400
    • Axelrad, M.E.1    Glidden, R.2    Nicholson, L.3    Gripp, K.W.4
  • 14
    • 37249002797 scopus 로고    scopus 로고
    • Longitudinal assessment of cognitive characteristics in Costello syndrome
    • in press
    • Axelrad ME, Nicholson L, Stabley DL, et al. Longitudinal assessment of cognitive characteristics in Costello syndrome. Am J Med Genet 2007 (in press).
    • (2007) Am J Med Genet
    • Axelrad, M.E.1    Nicholson, L.2    Stabley, D.L.3
  • 15
    • 22044432006 scopus 로고    scopus 로고
    • The adult phenotype in Costello syndrome
    • White SM, Graham JM, Kerr B, et al. The adult phenotype in Costello syndrome. Am J Med Genet 2005; 136A:128-135.
    • (2005) Am J Med Genet , vol.136 A , pp. 128-135
    • White, S.M.1    Graham, J.M.2    Kerr, B.3
  • 16
    • 34447332220 scopus 로고    scopus 로고
    • Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardiofacio-cutaneous syndrome from Costello syndrome
    • Gripp KW, Lin AE, Nicholson L, et al. Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardiofacio-cutaneous syndrome from Costello syndrome. Am J Med Genet 2007; 143A:1472-1480.
    • (2007) Am J Med Genet , vol.143 A , pp. 1472-1480
    • Gripp, K.W.1    Lin, A.E.2    Nicholson, L.3
  • 17
    • 4243248919 scopus 로고    scopus 로고
    • Further delineation of cardiac abnormalities in Costello syndrome
    • Lin AE, Grossfeld PD, Hamilton RM, et al. Further delineation of cardiac abnormalities in Costello syndrome. Am J Med Genet 2002; 111:115-129.
    • (2002) Am J Med Genet , vol.111 , pp. 115-129
    • Lin, A.E.1    Grossfeld, P.D.2    Hamilton, R.M.3
  • 18
    • 3042843504 scopus 로고    scopus 로고
    • Elevated catecholamine metabolites in patients with Costello syndrome
    • Gripp KW, Kawame H, Viskochil DH, Nicholson L. Elevated catecholamine metabolites in patients with Costello syndrome. Am J Med Genet 2004; 128A:48-51.
    • (2004) Am J Med Genet , vol.128 A , pp. 48-51
    • Gripp, K.W.1    Kawame, H.2    Viskochil, D.H.3    Nicholson, L.4
  • 19
    • 27144531386 scopus 로고    scopus 로고
    • Germline mutations in HRAS protooncogene cause Costello syndrome
    • Aoki Y, Niihori T, Kawame H, et al. Germline mutations in HRAS protooncogene cause Costello syndrome. Nat Genet 2005; 37:1038-1040.
    • (2005) Nat Genet , vol.37 , pp. 1038-1040
    • Aoki, Y.1    Niihori, T.2    Kawame, H.3
  • 20
    • 16844376315 scopus 로고    scopus 로고
    • Oncogenic Ras in tumor progression and metastasis
    • Giehl K. Oncogenic Ras in tumor progression and metastasis. Biol Chem 2005; 386:193-205.
    • (2005) Biol Chem , vol.386 , pp. 193-205
    • Giehl, K.1
  • 21
    • 30144434094 scopus 로고    scopus 로고
    • Estep A, Tidyman WE, Teitell MA, et al. HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy. Am J Med Genet 2005; 140A:8-16.
    • Estep A, Tidyman WE, Teitell MA, et al. HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy. Am J Med Genet 2005; 140A:8-16.
  • 22
    • 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. Genotype-phenotype correlation in Costello syndrome; HRAS mutation analysis in 43 cases. J Med Genet 2006; 43:401-405.
    • (2006) J Med Genet , vol.43 , pp. 401-405
    • Kerr, B.1    Delrue, M.A.2    Sigaudy, S.3
  • 23
    • 33747027723 scopus 로고    scopus 로고
    • Paternal bias in parental origin of HRAS mutations in Costello syndrome
    • Sol-Church K, Stabley DL, Nicholson L, et al. Paternal bias in parental origin of HRAS mutations in Costello syndrome. Hum Mutat 2006; 27:736-741.
    • (2006) Hum Mutat , vol.27 , pp. 736-741
    • Sol-Church, K.1    Stabley, D.L.2    Nicholson, L.3
  • 24
    • 33746656803 scopus 로고    scopus 로고
    • Recurring HRAS mutation G12S in Dutch patients with Costello syndrome
    • Van Steensel MA, Vreeburg M, Peels C, et al. Recurring HRAS mutation G12S in Dutch patients with Costello syndrome. Exp Dermatol 2006; 15:731-734.
    • (2006) Exp Dermatol , vol.15 , pp. 731-734
    • Van Steensel, M.A.1    Vreeburg, M.2    Peels, C.3
  • 25
    • 33847211041 scopus 로고    scopus 로고
    • Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome
    • Zampino G, Pantaleoni F, Carta C, et al. Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. Hum Mutat 2007; 28:265-272.
    • (2007) Hum Mutat , vol.28 , pp. 265-272
    • Zampino, G.1    Pantaleoni, F.2    Carta, C.3
  • 26
    • 33846655745 scopus 로고    scopus 로고
    • HRAS and the Costello syndrome
    • Rauen KA. HRAS and the Costello syndrome. Clin Genet 2007; 71:101-108.
    • (2007) Clin Genet , vol.71 , pp. 101-108
    • Rauen, K.A.1
  • 27
    • 33749485297 scopus 로고    scopus 로고
    • Gripp KW, Stabley DL, Nicholson L, et al. Somatic mosaicism for an HRAS mutation causes Costello syndrome. Am J Med Genet 2006; 140A:2163-2169. This is the first case report of somatic mosaicism in Costello syndrome.
    • Gripp KW, Stabley DL, Nicholson L, et al. Somatic mosaicism for an HRAS mutation causes Costello syndrome. Am J Med Genet 2006; 140A:2163-2169. This is the first case report of somatic mosaicism in Costello syndrome.
  • 28
    • 34447335071 scopus 로고    scopus 로고
    • Van der Burgt I, Kupsky W, Stassou S, et al. Myopathy caused by HRAS germline mutations - implications on disturbed myogenic differentiation in the presence of constitutive H-Ras activation. J Med Genet 2007; 44:459-462. The article provides novel information about myopathy caused by HRAS activation in Costello syndrome patients.
    • Van der Burgt I, Kupsky W, Stassou S, et al. Myopathy caused by HRAS germline mutations - implications on disturbed myogenic differentiation in the presence of constitutive H-Ras activation. J Med Genet 2007; 44:459-462. The article provides novel information about myopathy caused by HRAS activation in Costello syndrome patients.
  • 29
  • 30
    • 33644629727 scopus 로고    scopus 로고
    • Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
    • One of the early reports on the mutations causing CFC syndrome
    • Niihori T, Aoki Y, Narumi Y, et al. Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat Genet 2006; 38:294-296. One of the early reports on the mutations causing CFC syndrome.
    • (2006) Nat Genet , vol.38 , pp. 294-296
    • Niihori, T.1    Aoki, Y.2    Narumi, Y.3
  • 31
    • 33644696097 scopus 로고    scopus 로고
    • Rodriguez-Viciana P, Tetsu O, Tidyman WE, et al. Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. Science 2006; 311:1287-1290. One of the early reports on the mutations causing CFC syndrome.
    • Rodriguez-Viciana P, Tetsu O, Tidyman WE, et al. Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. Science 2006; 311:1287-1290. One of the early reports on the mutations causing CFC syndrome.
  • 32
    • 34147097054 scopus 로고    scopus 로고
    • Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: Overlapping clinical manifestations with Costello syndrome
    • Narumi Y, Aoki Y, Niihori T, et al. Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. Am J Med Genet 2007; 143A:799-807.
    • (2007) Am J Med Genet , vol.143 A , pp. 799-807
    • Narumi, Y.1    Aoki, Y.2    Niihori, T.3
  • 33
    • 33746603954 scopus 로고    scopus 로고
    • Distinguishing Costello versus cardio-facio-cutaneous syndrome: BRAF mutations in patients with a Costello phenotype
    • Rauen KA. Distinguishing Costello versus cardio-facio-cutaneous syndrome: BRAF mutations in patients with a Costello phenotype. Am J Med Genet 2006; 140A:1681-1683.
    • (2006) Am J Med Genet , vol.140 A , pp. 1681-1683
    • Rauen, K.A.1
  • 34
    • 34447313380 scopus 로고    scopus 로고
    • Al-Rahawan MM, Chute D, Sol-Church K, et al. Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome. Am J Med Genet 2007; 143A:1481-1488. This is the first report of a solid tumor in a patient with molecularly diagnosed CFC syndrome.
    • Al-Rahawan MM, Chute D, Sol-Church K, et al. Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome. Am J Med Genet 2007; 143A:1481-1488. This is the first report of a solid tumor in a patient with molecularly diagnosed CFC syndrome.
  • 35
    • 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. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 2001; 29:465-468.
    • (2001) Nat Genet , vol.29 , pp. 465-468
    • Tartaglia, M.1    Mehler, E.L.2    Goldberg, R.3
  • 36
    • 33646589708 scopus 로고    scopus 로고
    • Mutations of the PTPN11 and RAS genes in rhabdomyosarcoma and pediatric hematological malignancies
    • Chen Y, Takita J, Hiwatari M, et al. Mutations of the PTPN11 and RAS genes in rhabdomyosarcoma and pediatric hematological malignancies. Genes Chromosomes Cancer 2006; 45:583-591.
    • (2006) Genes Chromosomes Cancer , vol.45 , pp. 583-591
    • Chen, Y.1    Takita, J.2    Hiwatari, M.3
  • 37
    • 0038278866 scopus 로고    scopus 로고
    • Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia
    • Tartaglia M, Niemeyer CM, Fragale A, et al. Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. Nat Genet 2003; 34:148-150.
    • (2003) Nat Genet , vol.34 , pp. 148-150
    • Tartaglia, M.1    Niemeyer, C.M.2    Fragale, A.3
  • 38
    • 33845900943 scopus 로고    scopus 로고
    • Roberts AE, Araki T, Swanson KD, et al. Germline gain-of-function mutations in SOS1 cause Noonan syndrome. Nat Genet 2007; 39:70-74. The article reports the identification of missense mutations in SOS1 in Noonan syndrome.
    • Roberts AE, Araki T, Swanson KD, et al. Germline gain-of-function mutations in SOS1 cause Noonan syndrome. Nat Genet 2007; 39:70-74. The article reports the identification of missense mutations in SOS1 in Noonan syndrome.
  • 39
    • 33845884026 scopus 로고    scopus 로고
    • Tartaglia M, Pennacchio LA, Zhao C, et al. Gain-of function SOS1 mutations cause a distinctive form of Noonan syndrome. Nat Genet 2007; 39:75-79. This article describes SOS1 mutations in Noonan syndrome.
    • Tartaglia M, Pennacchio LA, Zhao C, et al. Gain-of function SOS1 mutations cause a distinctive form of Noonan syndrome. Nat Genet 2007; 39:75-79. This article describes SOS1 mutations in Noonan syndrome.
  • 40
    • 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. Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nat Genet 2007; 39:1007-1012.
    • (2007) Nat Genet , vol.39 , pp. 1007-1012
    • Pandit, B.1    Sarkozy, A.2    Pennacchio, L.A.3
  • 41
    • 34547539552 scopus 로고    scopus 로고
    • Germline gain-of-function mutations in RAF1 cause Noonan syndrome
    • Razzaque MA, Nishizawa T, Komoike Y, et al. Germline gain-of-function mutations in RAF1 cause Noonan syndrome. Nat Genet 2007; 39:1013-1017.
    • (2007) Nat Genet , vol.39 , pp. 1013-1017
    • Razzaque, M.A.1    Nishizawa, T.2    Komoike, Y.3
  • 42
    • 34247866378 scopus 로고    scopus 로고
    • Clinical lumping and molecular splitting of LEOPARD and NF1/NF1-Noonan syndromes
    • Sarkozy A, Schirinzi A, Lepri F, et al. Clinical lumping and molecular splitting of LEOPARD and NF1/NF1-Noonan syndromes. Am J Med Genet 2007; 143A:1009-1011.
    • (2007) Am J Med Genet , vol.143 A , pp. 1009-1011
    • Sarkozy, A.1    Schirinzi, A.2    Lepri, F.3
  • 43
    • 33644622238 scopus 로고    scopus 로고
    • Germline KRAS mutations cause Noonan syndrome
    • Schubbert S, Zenker M, Rowe SL, et al. Germline KRAS mutations cause Noonan syndrome. Nat Genet 2006; 38:331-336.
    • (2006) Nat Genet , vol.38 , pp. 331-336
    • Schubbert, S.1    Zenker, M.2    Rowe, S.L.3
  • 44
    • 33745265268 scopus 로고    scopus 로고
    • Germline missense mutations affecting KRAS isoforms B are associated with a severe Noonan syndrome phenotype
    • Carta C, Pantaleoni F, Bocchinfuso G, et al. Germline missense mutations affecting KRAS isoforms B are associated with a severe Noonan syndrome phenotype. Am J Hum Genet 2006; 79:129-135.
    • (2006) Am J Hum Genet , vol.79 , pp. 129-135
    • Carta, C.1    Pantaleoni, F.2    Bocchinfuso, G.3
  • 45
    • 33847248863 scopus 로고    scopus 로고
    • Zenker M, Lehmann K, Schulz AL, et al. Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. J Med Genet 2007; 44:131-135. The phenotype of patients with KRAS germline alterations is reviewed in detail and differentiated from previously described syndromes.
    • Zenker M, Lehmann K, Schulz AL, et al. Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. J Med Genet 2007; 44:131-135. The phenotype of patients with KRAS germline alterations is reviewed in detail and differentiated from previously described syndromes.
  • 46
    • 36348978866 scopus 로고    scopus 로고
    • Friedman JM. Neurofibromatosis 1: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Seattle: University of Washington; 2006. Available at http://www.genetests.org. This is a clinically relevant and updated description of neurofibromatosis. This website provides basic and detailed information on genetic disorders, including laboratory options for genetic testing.
    • Friedman JM. Neurofibromatosis 1: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Seattle: University of Washington; 2006. Available at http://www.genetests.org. This is a clinically relevant and updated description of neurofibromatosis. This website provides basic and detailed information on genetic disorders, including laboratory options for genetic testing.
  • 47
    • 0029993451 scopus 로고    scopus 로고
    • Neurofibromatosis/Noonan phenotype: A variable feature of type 1 neurofibromatosis
    • Colley A, Donnai D, Evans DG. Neurofibromatosis/Noonan phenotype: a variable feature of type 1 neurofibromatosis. Clin Genet 1996; 49:59-64.
    • (1996) Clin Genet , vol.49 , pp. 59-64
    • Colley, A.1    Donnai, D.2    Evans, D.G.3
  • 48
    • 33644796904 scopus 로고    scopus 로고
    • Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype
    • Stevenson DA, Viskochil DH, Rope AF, Carey JC. Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype. Clin Genet 2006; 69:246-253.
    • (2006) Clin Genet , vol.69 , pp. 246-253
    • Stevenson, D.A.1    Viskochil, D.H.2    Rope, A.F.3    Carey, J.C.4
  • 49
    • 33847161650 scopus 로고    scopus 로고
    • An unexpected new role of mutant Ras: Perturbation of human embryonic development
    • Kratz CP, Niemeyer CM, Zenker M. An unexpected new role of mutant Ras: perturbation of human embryonic development. J Mol Med 2007; 85:223-231.
    • (2007) J Mol Med , vol.85 , pp. 223-231
    • Kratz, C.P.1    Niemeyer, C.M.2    Zenker, M.3
  • 50
    • 33747849281 scopus 로고    scopus 로고
    • Germline mutations in components of the Ras signaling pathway in Noonan syndrome and related disorders
    • Kratz CP, Schubbert S, Bollag G, et al. Germline mutations in components of the Ras signaling pathway in Noonan syndrome and related disorders. Cell Cycle 2006; 5:1607-1611.
    • (2006) Cell Cycle , vol.5 , pp. 1607-1611
    • Kratz, C.P.1    Schubbert, S.2    Bollag, G.3
  • 51
    • 33644829154 scopus 로고    scopus 로고
    • Bentires-Alj M, Kontaridis MI, Neel BG. Stops along the RAS pathway in human genetic disease. Nat Med 2006; 12:283-285. This article provides an excellent overview of the RAS pathway and its role in human development and carcinogenesis.
    • Bentires-Alj M, Kontaridis MI, Neel BG. Stops along the RAS pathway in human genetic disease. Nat Med 2006; 12:283-285. This article provides an excellent overview of the RAS pathway and its role in human development and carcinogenesis.
  • 52
    • 33947124143 scopus 로고    scopus 로고
    • Distal phalangeal creases - a distinctive dysmorphic feature in disorders of the RAS signaling pathway
    • Ørstavik KH, Tangeraas T, Molven A, Prescott TE. Distal phalangeal creases - a distinctive dysmorphic feature in disorders of the RAS signaling pathway. Eur J Med Genet 2007; 50:155-158.
    • (2007) Eur J Med Genet , vol.50 , pp. 155-158
    • Ørstavik, K.H.1    Tangeraas, T.2    Molven, A.3    Prescott, T.E.4
  • 53
    • 33947594129 scopus 로고    scopus 로고
    • Hyperactive Ras in developmental disorders and cancer
    • Schubbert S, Shannon K, Bollag G. Hyperactive Ras in developmental disorders and cancer. Nat Rev Cancer 2007; 7:295-308.
    • (2007) Nat Rev Cancer , vol.7 , pp. 295-308
    • Schubbert, S.1    Shannon, K.2    Bollag, G.3
  • 54
    • 33646096207 scopus 로고    scopus 로고
    • PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects
    • Kontaridis MI, Swanson KD, David FS, et al. PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects. J Biol Chem 2006; 281:6785-6792.
    • (2006) J Biol Chem , vol.281 , pp. 6785-6792
    • Kontaridis, M.I.1    Swanson, K.D.2    David, F.S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.