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Items: 1 to 20 of 92

1.

HRAS mutations in bladder cancer at an early age and the possible association with the Costello Syndrome.

Beukers W, Hercegovac A, Zwarthoff EC.

Eur J Hum Genet. 2014 Jun;22(6):837-9. doi: 10.1038/ejhg.2013.251. Epub 2013 Oct 30.

2.

An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.

Gripp KW, Sol-Church K, Smpokou P, Graham GE, Stevenson DA, Hanson H, Viskochil DH, Baker LC, Russo B, Gardner N, Stabley DL, Kolbe V, Rosenberger G.

Am J Med Genet A. 2015 Sep;167A(9):2085-97. doi: 10.1002/ajmg.a.37128. Epub 2015 Apr 25.

3.

HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome.

Niihori T, Aoki Y, Okamoto N, Kurosawa K, Ohashi H, Mizuno S, Kawame H, Inazawa J, Ohura T, Arai H, Nabatame S, Kikuchi K, Kuroki Y, Miura M, Tanaka T, Ohtake A, Omori I, Ihara K, Mabe H, Watanabe K, Niijima S, Okano E, Numabe H, Matsubara Y.

J Hum Genet. 2011 Oct;56(10):707-15. doi: 10.1038/jhg.2011.85. Epub 2011 Aug 18.

PMID:
21850009
4.

FGFR3, HRAS, KRAS, NRAS and PIK3CA mutations in bladder cancer and their potential as biomarkers for surveillance and therapy.

Kompier LC, Lurkin I, van der Aa MN, van Rhijn BW, van der Kwast TH, Zwarthoff EC.

PLoS One. 2010 Nov 3;5(11):e13821. doi: 10.1371/journal.pone.0013821.

5.

Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome.

Lorenz S, Lissewski C, Simsek-Kiper PO, Alanay Y, Boduroglu K, Zenker M, Rosenberger G.

Hum Mol Genet. 2013 Apr 15;22(8):1643-53. doi: 10.1093/hmg/ddt014. Epub 2013 Jan 17.

PMID:
23335589
6.

The mutational spectrum of HRAS, KRAS, NRAS and FGFR3 genes in bladder cancer.

Ouerhani S, Elgaaied AB.

Cancer Biomark. 2011-2012;10(6):259-66. doi: 10.3233/CBM-2012-0254.

PMID:
22820081
7.

Keratinocytic epidermal nevi are associated with mosaic RAS mutations.

Hafner C, Toll A, Gantner S, Mauerer A, Lurkin I, Acquadro F, Fernández-Casado A, Zwarthoff EC, Dietmaier W, Baselga E, Parera E, Vicente A, Casanova A, Cigudosa J, Mentzel T, Pujol RM, Landthaler M, Real FX.

J Med Genet. 2012 Apr;49(4):249-53. doi: 10.1136/jmedgenet-2011-100637.

PMID:
22499344
8.

HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.

Estep AL, Tidyman WE, Teitell MA, Cotter PD, Rauen KA.

Am J Med Genet A. 2006 Jan 1;140(1):8-16.

PMID:
16372351
9.

Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp.

Bertola D, Buscarilli M, Stabley DL, Baker L, Doyle D, Bartholomew DW, Sol-Church K, Gripp KW.

Am J Med Genet A. 2017 May;173(5):1309-1318. doi: 10.1002/ajmg.a.38178. Epub 2017 Apr 3.

10.

Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation.

Girisha KM, Lewis LE, Phadke SR, Kutsche K.

Am J Med Genet A. 2010 Nov;152A(11):2861-4. doi: 10.1002/ajmg.a.33687.

PMID:
20979192
11.

Recurrent duplication mutation in HRAS causing mild Costello syndrome in a Chinese patient.

Xu F, Wang HJ, Lin ZM, Yu B.

Clin Exp Dermatol. 2015 Jun;40(4):404-7. doi: 10.1111/ced.12571. Epub 2015 Feb 10.

PMID:
25677562
12.

Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations.

Gripp KW, Lin AE.

Genet Med. 2012 Mar;14(3):285-92. doi: 10.1038/gim.0b013e31822dd91f. Review.

PMID:
22261753
13.

Mutations in FGFR3 and PIK3CA, singly or combined with RAS and AKT1, are associated with AKT but not with MAPK pathway activation in urothelial bladder cancer.

Juanpere N, Agell L, Lorenzo M, de Muga S, López-Vilaró L, Murillo R, Mojal S, Serrano S, Lorente JA, Lloreta J, Hernández S.

Hum Pathol. 2012 Oct;43(10):1573-82. doi: 10.1016/j.humpath.2011.10.026. Epub 2012 Mar 12.

PMID:
22417847
14.

C4ST-1/CHST11-controlled chondroitin sulfation interferes with oncogenic HRAS signaling in Costello syndrome.

Klüppel M, Samavarchi-Tehrani P, Liu K, Wrana JL, Hinek A.

Eur J Hum Genet. 2012 Aug;20(8):870-7. doi: 10.1038/ejhg.2012.12. Epub 2012 Feb 8.

15.

Assessing genotype-phenotype correlation in Costello syndrome using a severity score.

McCormick EM, Hopkins E, Conway L, Catalano S, Hossain J, Sol-Church K, Stabley DL, Gripp KW.

Genet Med. 2013 Jul;15(7):554-7. doi: 10.1038/gim.2013.6. Epub 2013 Feb 21.

PMID:
23429430
16.

Attenuated phenotype of Costello syndrome and early death in a patient with an HRAS mutation (c.179G>T; p.Gly60Val) affecting signalling dynamics.

Gripp KW, Kolbe V, Brandenstein LI, Rosenberger G.

Clin Genet. 2017 Sep;92(3):332-337. doi: 10.1111/cge.12980. Epub 2017 Mar 30.

PMID:
28139825
17.

Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline.

Giannoulatou E, McVean G, Taylor IB, McGowan SJ, Maher GJ, Iqbal Z, Pfeifer SP, Turner I, Burkitt Wright EM, Shorto J, Itani A, Turner K, Gregory L, Buck D, Rajpert-De Meyts E, Looijenga LH, Kerr B, Wilkie AO, Goriely A.

Proc Natl Acad Sci U S A. 2013 Dec 10;110(50):20152-7. doi: 10.1073/pnas.1311381110. Epub 2013 Nov 20.

18.

Somatic mosaicism for an HRAS mutation causes Costello syndrome.

Gripp KW, Stabley DL, Nicholson L, Hoffman JD, Sol-Church K.

Am J Med Genet A. 2006 Oct 15;140(20):2163-9.

PMID:
16969868
19.

Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome.

Lin AE, Alexander ME, Colan SD, Kerr B, Rauen KA, Noonan J, Baffa J, Hopkins E, Sol-Church K, Limongelli G, Digilio MC, Marino B, Innes AM, Aoki Y, Silberbach M, Delrue MA, White SM, Hamilton RM, O'Connor W, Grossfeld PD, Smoot LB, Padera RF, Gripp KW.

Am J Med Genet A. 2011 Mar;155A(3):486-507. doi: 10.1002/ajmg.a.33857. Epub 2011 Feb 22.

PMID:
21344638
20.

Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome.

Gripp KW, Lin AE, Nicholson L, Allen W, Cramer A, Jones KL, Kutz W, Peck D, Rebolledo MA, Wheeler PG, Wilson W, Al-Rahawan MM, Stabley DL, Sol-Church K.

Am J Med Genet A. 2007 Jul 1;143A(13):1472-80.

PMID:
17551924

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