| 1 | NS1, PTPN11
|
| Age-Dependent Germline Mosaicism of the Most Common Noonan Syndrome Mutation Shows the Signature of Germline Selection.
|
| Yoon SR, Choi SK, Eboreime J, Gelb BD, Calabrese P, Arnheim N.
|
| Am J Hum Genet m J Hum Genet. 2013 May 29. doi:pii: S0002-9297(13)00214-0. 10.1016/j.ajhg.2013.05.001. [Epub ahead of print]
2013
|
| 2 | KRAS, NS1, PTPN11, RASA1
|
| Noonan syndrome-causing SHP2 mutants inhibit insulin-like growth factor 1 release via growth hormone-induced ERK hyperactivation, which contributes to short stature.
|
| De Rocca Serra-Nédélec A, Edouard T, Tréguer K, Tajan M, Araki T, Dance M, Mus M, Montagner A, Tauber M, Salles JP, Valet P, Neel BG, Raynal P, Yart A.
|
| Proc Natl Acad Sci U S A 109(11):4257-62. doi: 10.1073/pnas.1119803109. Epub 2012 Feb 27.
2012
|
| 3 | NS1, PTPN11
|
| Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.
|
| Jongmans MC, van der Burgt I, Hoogerbrugge PM, Noordam K, Yntema HG, Nillesen WM, Kuiper RP, Ligtenberg MJ, van Kessel AG, van Krieken JH, Kiemeney LA, Hoogerbrugge N.
|
| Eur J Hum Genet 19(8):870-4. doi: 10.1038/ejhg.2011.37. Epub 2011 Mar 16.
2011
|
| 4 | NS1, PTPN11
|
| Noonan syndrome/leukemia-associated gain-of-function mutations in SHP-2 phosphatase (PTPN11) enhance cell migration and angiogenesis.
|
| Wang S, Yu WM, Zhang W, McCrae KR, Neel BG, Qu CK.
|
| J Biol Chem 284(2):913-20. Epub 2008 Nov 13.
2009
|
| 5 | NS1, PTPN11
|
| Noonan syndrome cardiac defects are caused by PTPN11 acting in endocardium to enhance endocardial-mesenchymal transformation.
|
| Araki T, Chan G, Newbigging S, Morikawa L, Bronson RT, Neel BG.
|
| Proc Natl Acad Sci U S A 106(12):4736-41. Epub 2009 Feb 27.
2009
|
| 6 | MAPK1, MAPK3, NS1
|
| Noonan syndrome is associated with enhanced pERK activity, the repression of which can prevent craniofacial malformations.
|
| Nakamura T, Gulick J, Pratt R, Robbins J.
|
| Proc Natl Acad Sci U S A 106(36):15436-41. Epub 2009 Aug 24.PMID: 19706403 2009
|
| 7 | NS1, NS4, PTPN11, SOS1
|
| SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions.
|
| Beneteau C, Cavé H, Moncla A, Dorison N, Munnich A, Verloes A, Leheup B.
|
| Eur J Hum Genet 17(10):1216-21. Epub 2009 Apr 8.PMID: 19352411 2009
|
| 8 | LEOPS, NS1, PTPN11
|
| Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes.
|
| Martinelli S, Torreri P, Tinti M, Stella L, Bocchinfuso G, Flex E, Grottesi A, Ceccarini M, Palleschi A, Cesareni G, Castagnoli L, Petrucci TC, Gelb BD, Tartaglia M.
|
| Hum Mol Genet 17(13):2018-29. Epub 2008 Mar 27.
2008
|
| 9 | BRAF, CFC2, CFC3, COSTS, HRAS, KRAS, LEOPS, MAP2K1, MAPK1, MTOR, NF1, NFNS, NS1, NS3, NS4, NS5, PTPN11, RAF1, SOS1
|
| Oncogenes on my mind: ERK and MTOR signaling in cognitive diseases.
|
| Krab LC, Goorden SM, Elgersma Y.
|
| Trends Genet 24(10):498-510. Epub 2008 Sep 4. 2008
|
| 10 | MAPK1, MAPK3, NS1, PTPN11
|
| Role of ERK1/2 signaling in congenital valve malformations in Noonan syndrome.
|
| Krenz M, Gulick J, Osinska HE, Colbert MC, Molkentin JD, Robbins J.
|
| Proc Natl Acad Sci U S A 105(48):18930-5. Epub 2008 Nov 18.
2008
|
| 11 | KRAS, NS1, NS3, NS4, NS5, PTPN11, RAF1, SOS1
|
| 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.
|
| J Hum Genet 53(11-12):999-1006. Epub 2008 Nov 20.
2008
|
| 12 | NS1, PTPN11
|
| Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients.
|
| Ferreira LV, Souza SC, Montenegro LR, Malaquias AC, Arnhold IJ, Mendonca BB, Jorge AA.
|
| Clin Endocrinol (Oxf) 69(3):426-31. Epub 2008 Mar 10.PMID: 18331608 2008
|
| 13 | PTPN11, NS1
|
| Mild variable Noonan syndrome in a family with a novel PTPN11 mutation.
|
| Zenker M, Voss E, Reis A.
|
| Eur J Med Genet 50(1):43-7. Epub 2006 Sep 14. 2007
|
| 14 | NS1,PTPN11
|
| The spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene.
|
| Sznajer Y, Keren B, Baumann C, Pereira S, Alberti C, Elion J, Cave H, Verloes A.
|
| Pediatrics 119(6):e1325-31. Epub 2007 May 21. 2007
|
| 15 | PTPN11, NS1
|
| Reduced tumor growth in vivo and increased c-Abl activity in PC3 prostate cancer cells overexpressing the Shb adapter protein.
|
| Davoodpour P, Landstrom M, Welsh M.
|
| BMC Cancer 7:161. 2007
|
| 16 | PTPN11, LEOPS, NS1
|
| Diversity and Functional Consequences of Germline and Somatic PTPN11 Mutations in Human Disease.
|
| Tartaglia M, Martinelli S, Stella L, Bocchinfuso G, Flex E, Cordeddu V, Zampino G, Burgt I, Palleschi A, Petrucci TC, Sorcini M, Schoch C, Foa R, Emanuel PD, Gelb BD.
|
| Am J Hum Genet 78(2):279-90. Epub 2005 Dec 7. 2006
|
| 17 | PTPN11, NS1, NFATC1
|
| Gain-of-function/Noonan syndrome SHP-2/Ptpn11 mutants enhance calcium oscillations and impair NFAT signaling.
|
| Uhlen P, Burch PM, Zito CI, Estrada M, Ehrlich BE, Bennett AM.
|
| Proc Natl Acad Sci U S A 103(7):2160-5. Epub 2006 Feb 3. 2006
|
| 18 | PTPN11, NS1
|
| Does the rare A172G mutation of PTPN11 gene convey a mild Noonan syndrome phenotype?
|
| Kitsiou-Tzeli S, Papadopoulou A, Kanaka-Gantenbein C, Fretzayas A, Daskalopoulos D, Kanavakis E, Nicolaidou P.
|
| Horm Res 66(3):124-31. Epub 2006 Jun 23. 2006
|
| 19 | NS1, PTPN11
|
| Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction.
|
| Gelb BD, Tartaglia M.
|
| Hum Mol Genet 15 Spec No 2:R220-6. Review.
2006
|
| 20 | NS1, PTPN11
|
| Noonan syndrome type I with PTPN11 3 bp deletion: structure-function implications.
|
| Lee WH, Raas-Rotschild A, Miteva MA, Bolasco G, Rein A, Gillis D, Vidaud D, Vidaud M, Villoutreix BO, Parfait B.
|
| Proteins 58(1):7-13. 2005
|
| 21 | PTPN11, NS1
|
| Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes.
|
| Keilhack H, David FS, McGregor M, Cantley LC, Neel BG.
|
| J Biol Chem 280(35):30984-93. Epub 2005 Jun 29. 2005
|
| 22 | PTPN11, NS1
|
| Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome.
|
| Tartaglia M, Cordeddu V, Chang H, Shaw A, Kalidas K, Crosby A, Patton MA, Sorcini M, van der Burgt I, Jeffery S, Gelb BD.
|
| Am J Hum Genet 75(3):492-7. Epub 2004 Jul 09. 2004
|
| 23 | AIC, AXR2, CCA, CDG1D, DHOF, DPYD, HPE2, JBTS1, MCIA, MCOPCB2, MKS1, MRXS28, NBCCS2, NS1, OFCD, ONCR, OOD1, OPD2, RBP4, RIEG1, RSTS, TCOF1, WLKWS1, ZEB2
|
| Ocular coloboma: a reassessment in the age of molecular neuroscience.
|
| Gregory-Evans CY, Williams MJ, Halford S, Gregory-Evans K.
|
| J Med Genet 41(12):881-91. 2004
|
| 24 | NS1, PTPN11
|
| Genotype-phenotype correlations in Noonan syndrome.
|
| Zenker M, Buheitel G, Rauch R, Koenig R, Bosse K, Kress W, Tietze HU, Doerr HG, Hofbeck M, Singer H, Reis A, Rauch A.
|
| J Pediatr 144(3):368-74. 2004
|
| 25 | LEOPS, NS1, PTPN11
|
| Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.
|
| Sarkozy A, Conti E, Seripa D, Digilio MC, Grifone N, Tandoi C, Fazio VM, Di Ciommo V, Marino B, Pizzuti A, Dallapiccola B.
|
| J Med Genet 40(9):704-8. No abstract available. 2003
|
| 26 | CFC1, NS1, COSTS
|
| Exclusion of PTPN11 mutations in Costello syndrome: further evidence for distinct genetic etiologies for Noonan, cardio-facio-cutaneous and Costello syndromes.
|
| Tartaglia M, Cotter PD, Zampino G, Gelb BD, Rauen KA.
|
| Clin Genet 63(5):423-6. 2003
|
| 27 | LEOPS, NS1, PTPN11
|
| Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.
|
| Digilio MC, Conti E, Sarkozy A, Mingarelli R, Dottorini T, Marino B, Pizzuti A, Dallapiccola B.
|
| Am J Hum Genet 71(2):389-94. 2002
|
| 28 | NS1, PTPN11
|
| PTPN11 Mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13.
|
| Maheshwari M, Belmont J, Fernbach S, Ho T, Molinari L, Yakub I, Yu F, Combes A, Towbin J, Craigen WJ, Gibbs R.
|
| Hum Mutat 20(4):298-304. 2002
|
| 29 | PTPN11, NS1
|
| PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
|
| Tartaglia M, Kalidas K, Shaw A, Song X, Musat DL, van der Burgt I, Brunner HG, Bertola DR, Crosby A, Ion A, Kucherlapati RS, Jeffery S, Patton MA, Gelb BD.
|
| Am J Hum Genet 70(6):1555-63. Epub 2002 May 1. 2002
|
| 30 | NS1, PTPN11
|
| Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.
|
| Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, van der Burgt I, Crosby AH, Ion A, Jeffery S, Kalidas K, Patton MA, Kucherlapati RS, Gelb BD.
|
| Nat Genet 29(4):465-8. 2001
|
| 31 | NS1
|
| Fine mapping of Noonan/cardio-facio- cutaneous syndrome in a large family.
|
| Legius E, et al.
|
| Eur J Hum Genet 6 : 32-37. 1998
|
| 32 | NS1
|
| Noonan syndrome: genotype analysis of the Noonan syndrome critical region at chromosome 12q in a three-generation family.
|
| Ogata T, Muroya K, Tsukahara M.
|
| Am J Med Genet 79 : 153-154. 1998
|
| 33 | NS1
|
| Further delineation of the critical region for Noonan syndrome on the long arm of chromosome 12.
|
| Brady AF, Jamieson CR, van der Burgt I, Crosby A, van Reen M, Kremer H, Mariman E, Patton MA, Jeffery S.
|
| Eur J Hum Genet 5(5):336-7. 1997
|
| 34 | NS1, NF1
|
| Noonan syndrome with Caf-au-Lait spots and multiple lentigines syndrome are not linked to the neurofibromatosis type 1 locus.
|
| Ahlbom BE, et al.
|
| Clin Genet 48 : 85-89. 1995
|
| 35 | NS1
|
| Mapping a gene for Noonan syndrome to the long arm of chromosome 12.
|
| Jamieson CR, et al.
|
| Nat Genet 8 : 357-360. 1994
|