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Items: 1 to 20 of 94

1.
2.

Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.

Yaoita M, Niihori T, Mizuno S, Okamoto N, Hayashi S, Watanabe A, Yokozawa M, Suzumura H, Nakahara A, Nakano Y, Hokosaki T, Ohmori A, Sawada H, Migita O, Mima A, Lapunzina P, Santos-Simarro F, García-Miñaúr S, Ogata T, Kawame H, Kurosawa K, Ohashi H, Inoue S, Matsubara Y, Kure S, Aoki Y.

Hum Genet. 2016 Feb;135(2):209-22. doi: 10.1007/s00439-015-1627-5. Epub 2015 Dec 29.

PMID:
26714497
3.

New Mutations Associated with Rasopathies in a Central European Population and Genotype-Phenotype Correlations.

Čizmárová M, Hlinková K, Bertok S, Kotnik P, Duba HC, Bertalan R, Poločková K, Košťálová Ľ, Pribilincová Z, Hlavatá A, Kovács L, Ilenčíková D.

Ann Hum Genet. 2016 Jan;80(1):50-62. doi: 10.1111/ahg.12140. Epub 2015 Nov 26.

PMID:
26607044
4.

Impairment of PI3K/AKT and WNT/β-catenin pathways in bone marrow mesenchymal stem cells isolated from patients with myelodysplastic syndromes.

Falconi G, Fabiani E, Fianchi L, Criscuolo M, Raffaelli CS, Bellesi S, Hohaus S, Voso MT, D'Alò F, Leone G.

Exp Hematol. 2016 Jan;44(1):75-83.e1-4. doi: 10.1016/j.exphem.2015.10.005. Epub 2015 Oct 28.

PMID:
26521017
5.

Mutation in NRAS in familial Noonan syndrome--case report and review of the literature.

Ekvall S, Wilbe M, Dahlgren J, Legius E, van Haeringen A, Westphal O, Annerén G, Bondeson ML.

BMC Med Genet. 2015 Oct 14;16:95. doi: 10.1186/s12881-015-0239-1. Review.

6.

Sos1 Regulates Macrophage Podosome Assembly and Macrophage Invasive Capacity.

Baruzzi A, Remelli S, Lorenzetto E, Sega M, Chignola R, Berton G.

J Immunol. 2015 Nov 15;195(10):4900-12. doi: 10.4049/jimmunol.1500579. Epub 2015 Oct 7.

PMID:
26447228
7.

Growth Factor FGF2 Cooperates with Interleukin-17 to Repair Intestinal Epithelial Damage.

Song X, Dai D, He X, Zhu S, Yao Y, Gao H, Wang J, Qu F, Qiu J, Wang H, Li X, Shen N, Qian Y.

Immunity. 2015 Sep 15;43(3):488-501. doi: 10.1016/j.immuni.2015.06.024. Epub 2015 Aug 25.

PMID:
26320657
8.

Regions outside of conserved PxxPxR motifs drive the high affinity interaction of GRB2 with SH3 domain ligands.

Bartelt RR, Light J, Vacaflores A, Butcher A, Pandian M, Nash P, Houtman JC.

Biochim Biophys Acta. 2015 Oct;1853(10 Pt A):2560-9. doi: 10.1016/j.bbamcr.2015.06.002. Epub 2015 Jun 12.

PMID:
26079855
9.

Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy.

Kouri N, Ross OA, Dombroski B, Younkin CS, Serie DJ, Soto-Ortolaza A, Baker M, Finch NC, Yoon H, Kim J, Fujioka S, McLean CA, Ghetti B, Spina S, Cantwell LB, Farlow MR, Grafman J, Huey ED, Ryung Han M, Beecher S, Geller ET, Kretzschmar HA, Roeber S, Gearing M, Juncos JL, Vonsattel JP, Van Deerlin VM, Grossman M, Hurtig HI, Gross RG, Arnold SE, Trojanowski JQ, Lee VM, Wenning GK, White CL, Höglinger GU, Müller U, Devlin B, Golbe LI, Crook J, Parisi JE, Boeve BF, Josephs KA, Wszolek ZK, Uitti RJ, Graff-Radford NR, Litvan I, Younkin SG, Wang LS, Ertekin-Taner N, Rademakers R, Hakonarsen H, Schellenberg GD, Dickson DW.

Nat Commun. 2015 Jun 16;6:7247. doi: 10.1038/ncomms8247.

10.

RasGRP1 opposes proliferative EGFR-SOS1-Ras signals and restricts intestinal epithelial cell growth.

Depeille P, Henricks LM, van de Ven RA, Lemmens E, Wang CY, Matli M, Werb Z, Haigis KM, Donner D, Warren R, Roose JP.

Nat Cell Biol. 2015 Jun;17(6):804-15. doi: 10.1038/ncb3175. Epub 2015 May 25.

11.

Nuclear EGFR impairs ASPP2-p53 complex-induced apoptosis by inducing SOS1 expression in hepatocellular carcinoma.

Liu K, Jiang T, Ouyang Y, Shi Y, Zang Y, Li N, Lu S, Chen D.

Oncotarget. 2015 Jun 30;6(18):16507-16.

12.

Cooperation of distinct Rac-dependent pathways to stabilise E-cadherin adhesion.

Erasmus JC, Welsh NJ, Braga VM.

Cell Signal. 2015 Sep;27(9):1905-13. doi: 10.1016/j.cellsig.2015.04.014. Epub 2015 May 5.

13.

Differentially expressed genes in metastatic advanced Egyptian bladder cancer.

Zekri AR, Hassan ZK, Bahnassy AA, Khaled HM, El-Rouby MN, Haggag RM, Abu-Taleb FM.

Asian Pac J Cancer Prev. 2015;16(8):3543-9.

14.

External ear anomalies and hearing impairment in Noonan Syndrome.

van Trier DC, van Nierop J, Draaisma JM, van der Burgt I, Kunst H, Croonen EA, Admiraal RJ.

Int J Pediatr Otorhinolaryngol. 2015 Jun;79(6):874-8. doi: 10.1016/j.ijporl.2015.03.021. Epub 2015 Apr 1.

PMID:
25862627
15.

Combined rational design and a high throughput screening platform for identifying chemical inhibitors of a Ras-activating enzyme.

Evelyn CR, Biesiada J, Duan X, Tang H, Shang X, Papoian R, Seibel WL, Nelson S, Meller J, Zheng Y.

J Biol Chem. 2015 May 15;290(20):12879-98. doi: 10.1074/jbc.M114.634493. Epub 2015 Mar 30.

16.

Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.

Yamamoto GL, Aguena M, Gos M, Hung C, Pilch J, Fahiminiya S, Abramowicz A, Cristian I, Buscarilli M, Naslavsky MS, Malaquias AC, Zatz M, Bodamer O, Majewski J, Jorge AA, Pereira AC, Kim CA, Passos-Bueno MR, Bertola DR.

J Med Genet. 2015 Jun;52(6):413-21. doi: 10.1136/jmedgenet-2015-103018. Epub 2015 Mar 20.

PMID:
25795793
17.

Differential allelic expression of SOS1 and hyperexpression of the activating SOS1 c.755C variant in a Noonan syndrome family.

Moncini S, Bonati MT, Morella I, Ferrari L, Brambilla R, Riva P.

Eur J Hum Genet. 2015 Nov;23(11):1531-7. doi: 10.1038/ejhg.2015.20. Epub 2015 Feb 25.

PMID:
25712082
18.

Direct inhibition of oncogenic KRAS by hydrocarbon-stapled SOS1 helices.

Leshchiner ES, Parkhitko A, Bird GH, Luccarelli J, Bellairs JA, Escudero S, Opoku-Nsiah K, Godes M, Perrimon N, Walensky LD.

Proc Natl Acad Sci U S A. 2015 Feb 10;112(6):1761-6. doi: 10.1073/pnas.1413185112. Epub 2015 Jan 26.

19.

Testing measurement invariance of the GHQ-28 in stroke patients.

Munyombwe T, West RM, Hill K.

Qual Life Res. 2015 Aug;24(8):1823-7. doi: 10.1007/s11136-015-0924-8. Epub 2015 Jan 22.

PMID:
25609221
20.

MEK/ERK signaling pathway is required for enterovirus 71 replication in immature dendritic cells.

Shi W, Hou X, Peng H, Zhang L, Li Y, Gu Z, Jiang Q, Shi M, Ji Y, Jiang J.

Virol J. 2014 Dec 30;11:227. doi: 10.1186/s12985-014-0227-7.

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