| 1 | NS5, RAF1
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| Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants.
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| Wu X, Yin J, Simpson J, Kim KH, Gu S, Hong JH, Bayliss P, Backx PH, Neel BG, Araki T.
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| Mol Cell Biol 32(19):3872-90. doi: 10.1128/MCB.00751-12. Epub 2012 Jul 23.
2012
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| 2 | LEOPS2, NS5, RAF1
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| Impaired binding of 14-3-3 to C-RAF in Noonan syndrome suggests new approaches in diseases with increased Ras signaling.
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| Molzan M, Schumacher B, Ottmann C, Baljuls A, Polzien L, Weyand M, Thiel P, Rose R, Rose M, Kuhenne P, Kaiser M, Rapp UR, Kuhlmann J, Ottmann C.
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| Mol Cell Biol 30(19):4698-711. Epub 2010 Aug 2.
2010
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| 3 | NS5, RAF1
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| Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation.
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| Kobayashi T, Aoki Y, Niihori T, Cavé H, Verloes A, Okamoto N, Kawame H, Fujiwara I, Takada F, Ohata T, Sakazume S, Ando T, Nakagawa N, Lapunzina P, Meneses AG, Gillessen-Kaesbach G, Wieczorek D, Kurosawa K, Mizuno S, Ohashi H, David A, Philip N, Guliyeva A, Narumi Y, Kure S, Tsuchiya S, Matsubara Y.
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| Hum Mutat 31(3):284-94. doi: 10.1002/humu.21187.
2010
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| 4 | BRAF, CFC2, CFC3, COSTS, HRAS, KRAS, LEOPS, MAP2K1, MAPK1, MTOR, NF1, NFNS, NS1, NS3, NS4, NS5, PTPN11, RAF1, SOS1
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| Oncogenes on my mind: ERK and MTOR signaling in cognitive diseases.
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| Krab LC, Goorden SM, Elgersma Y.
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| Trends Genet 24(10):498-510. Epub 2008 Sep 4. 2008
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| 5 | CFC3, CFC4, CFC5, KRAS, MAP2K1, MAP2K2, NS3, NS5, RAF1
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| Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders.
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| Nyström AM, Ekvall S, Berglund E, Björkqvist M, Braathen G, Duchen K, Enell H, Holmberg E, Holmlund U, Olsson-Engman M, Annerén G, Bondeson ML.
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| J Med Genet 45(8):500-6. Epub 2008 May 2.
2008
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| 6 | KRAS, NS1, NS3, NS4, NS5, PTPN11, RAF1, SOS1
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| PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome.
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| Ko JM, Kim JM, Kim GH, Yoo HW.
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| J Hum Genet 53(11-12):999-1006. Epub 2008 Nov 20.
2008
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| 7 | RAF1, NS5
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| Germline gain-of-function mutations in RAF1 cause Noonan syndrome.
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| Razzaque MA, Nishizawa T, Komoike Y, Yagi H, Furutani M, Amo R, Kamisago M, Momma K, Katayama H, Nakagawa M, Fujiwara Y, Matsushima M, Mizuno K, Tokuyama M, Hirota H, Muneuchi J, Higashinakagawa T, Matsuoka R.
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| Nat Genet 39(8):1013-7. Epub 2007 Jul 1. 2007
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| 8 | LEOPS2, RAF1, NS5
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| Pandit B, Sarkozy A, Pennacchio LA, Carta C, Oishi K, Martinelli S, Pogna EA, Schackwitz W, Ustaszewska A, Landstrom A, Bos JM, Ommen SR, Esposito G, Lepri F, Faul C, Mundel P, Lopez Siguero JP, Tenconi R, Selicorni A, Rossi C, Mazzanti L, Torrente I, Marino B, Digilio MC, Zampino G, Ackerman MJ, Dallapiccola B, Tartaglia M, Gelb BD.
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| Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy ain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 0
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