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Results: 1 to 20 of 972

1.

Classic Ras Proteins Promote Proliferation and Survival via Distinct Phosphoproteome Alterations in Neurofibromin-Null Malignant Peripheral Nerve Sheath Tumor Cells.

Brossier NM, Prechtl AM, Longo JF, Barnes S, Wilson LS, Byer SJ, Brosius SN, Carroll SL.

J Neuropathol Exp Neurol. 2015 Jun;74(6):568-86. doi: 10.1097/NEN.0000000000000201.

PMID:
25946318
2.

A RASopathy gene commonly mutated in cancer: the neurofibromatosis type 1 tumour suppressor.

Ratner N, Miller SJ.

Nat Rev Cancer. 2015 May;15(5):290-301. doi: 10.1038/nrc3911. Epub 2015 Apr 16. Review.

PMID:
25877329
3.

NF1 single and multi-exons copy number variations in neurofibromatosis type 1.

Imbard A, Pasmant E, Sabbagh A, Luscan A, Soares M, Goussard P, Blanché H, Laurendeau I, Ferkal S, Vidaud M, Pinson S, Bellanne-Chantelot C, Vidaud D, Wolkenstein P; members of the NF France Network, Parfait B.

J Hum Genet. 2015 Apr;60(4):221-4. doi: 10.1038/jhg.2015.6. Epub 2015 Jan 29.

PMID:
25631097
4.

Pseudoangiomatous stromal hyperplasia with multinucleated stromal giant cells is neither exceptional in gynecomastia nor characteristic of neurofibromatosis type 1.

Pižem J, Velikonja M, Matjašič A, Jerše M, Glavač D.

Virchows Arch. 2015 Apr;466(4):465-72. doi: 10.1007/s00428-014-1715-2. Epub 2015 Jan 14.

PMID:
25586494
5.

High-resolution 400K oligonucleotide array comparative genomic hybridization analysis of neurofibromatosis type 1-associated cutaneous neurofibromas.

Asai A, Karnan S, Ota A, Takahashi M, Damdindorj L, Konishi Y, Hossain E, Konishi H, Nagata A, Yokoo K, Hosokawa Y.

Gene. 2015 Mar 10;558(2):220-6. doi: 10.1016/j.gene.2014.12.064. Epub 2015 Jan 3.

PMID:
25562418
6.

The cyclic AMP pathway is a sex-specific modifier of glioma risk in type I neurofibromatosis patients.

Warrington NM, Sun T, Luo J, McKinstry RC, Parkin PC, Ganzhorn S, Spoljaric D, Albers AC, Merkelson A, Stewart DR, Stevenson DA, Viskochil D, Druley TE, Forys JT, Reilly KM, Fisher MJ, Tabori U, Allen JC, Schiffman JD, Gutmann DH, Rubin JB.

Cancer Res. 2015 Jan 1;75(1):16-21. doi: 10.1158/0008-5472.CAN-14-1891. Epub 2014 Nov 7.

PMID:
25381154
7.

The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study.

Maruoka R, Takenouchi T, Torii C, Shimizu A, Misu K, Higasa K, Matsuda F, Ota A, Tanito K, Kuramochi A, Arima Y, Otsuka F, Yoshida Y, Moriyama K, Niimura M, Saya H, Kosaki K.

Genet Test Mol Biomarkers. 2014 Nov;18(11):722-35. doi: 10.1089/gtmb.2014.0109. Epub 2014 Oct 17.

PMID:
25325900
8.

Neurofibromin in neurofibromatosis type 1 - mutations in NF1gene as a cause of disease.

Abramowicz A, Gos M.

Dev Period Med. 2014 Jul-Sep;18(3):297-306. Review.

9.

Modulation of cAMP and ras signaling pathways improves distinct behavioral deficits in a zebrafish model of neurofibromatosis type 1.

Wolman MA, de Groh ED, McBride SM, Jongens TA, Granato M, Epstein JA.

Cell Rep. 2014 Sep 11;8(5):1265-70. doi: 10.1016/j.celrep.2014.07.054. Epub 2014 Aug 28.

10.

[PRC2 alterations in NF1-associated malignant peripheral nerve sheath tumors: schwann cells with no complex].

Luscan A, Vidaud D, Ortonne N, Wolkenstein P, Vidaud M, Pasmant E.

Med Sci (Paris). 2014 Aug-Sep;30(8-9):733-5. doi: 10.1051/medsci/20143008006. Epub 2014 Sep 1. French. No abstract available.

PMID:
25174745
11.

Exonic deletions in the NF1 gene in patients with neurofibromatosis type I from the lower Silesian region of Poland.

Laczmańska I, Szczepaniak M, Jakubiak A, Stembalska A.

Adv Clin Exp Med. 2014 Jul-Aug;23(4):517-21.

12.

Cognitive and behavioral problems in children with neurofibromatosis type 1: challenges and future directions.

Schwetye KE, Gutmann DH.

Expert Rev Neurother. 2014 Oct;14(10):1139-52. doi: 10.1586/14737175.2014.953931. Epub 2014 Aug 27. Review.

PMID:
25161109
13.

TAGLN expression is upregulated in NF1-associated malignant peripheral nerve sheath tumors by hypomethylation in its promoter and subpromoter regions.

Park GH, Lee SJ, Yim H, Han JH, Kim HJ, Sohn YB, Ko JM, Jeong SY.

Oncol Rep. 2014 Oct;32(4):1347-54. doi: 10.3892/or.2014.3379. Epub 2014 Aug 4.

14.

Translationally controlled tumor protein is a novel biological target for neurofibromatosis type 1-associated tumors.

Kobayashi D, Hirayama M, Komohara Y, Mizuguchi S, Wilson Morifuji M, Ihn H, Takeya M, Kuramochi A, Araki N.

J Biol Chem. 2014 Sep 19;289(38):26314-26. doi: 10.1074/jbc.M114.568253. Epub 2014 Aug 4.

PMID:
25092287
15.

A novel NF1 frame-shift mutation (c.702_703delGT) in a Chinese family with neurofibromatosis type 1.

Cai SP, Fan N, Chen J, Xia ZL, Wang Y, Zhou XM, Yin Y, Wen TL, Xia QJ, Liu XY, Wang HY.

Genet Mol Res. 2014 Jul 24;13(3):5395-404. doi: 10.4238/2014.July.24.19.

16.

Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?

Pasmant E, Parfait B, Luscan A, Goussard P, Briand-Suleau A, Laurendeau I, Fouveaut C, Leroy C, Montadert A, Wolkenstein P, Vidaud M, Vidaud D.

Eur J Hum Genet. 2015 May;23(5):596-601. doi: 10.1038/ejhg.2014.145. Epub 2014 Jul 30.

PMID:
25074460
17.

Neuronal NF1/RAS regulation of cyclic AMP requires atypical PKC activation.

Anastasaki C, Gutmann DH.

Hum Mol Genet. 2014 Dec 20;23(25):6712-21. doi: 10.1093/hmg/ddu389. Epub 2014 Jul 28.

PMID:
25070947
18.

Combined MEK inhibition and BMP2 treatment promotes osteoblast differentiation and bone healing in Nf1Osx -/- mice.

de la Croix Ndong J, Stevens DM, Vignaux G, Uppuganti S, Perrien DS, Yang X, Nyman JS, Harth E, Elefteriou F.

J Bone Miner Res. 2015 Jan;30(1):55-63. doi: 10.1002/jbmr.2316.

PMID:
25043591
19.

Asfotase-α improves bone growth, mineralization and strength in mouse models of neurofibromatosis type-1.

de la Croix Ndong J, Makowski AJ, Uppuganti S, Vignaux G, Ono K, Perrien DS, Joubert S, Baglio SR, Granchi D, Stevenson DA, Rios JJ, Nyman JS, Elefteriou F.

Nat Med. 2014 Aug;20(8):904-10. doi: 10.1038/nm.3583. Epub 2014 Jul 6. Erratum in: Nat Med. 2015 Apr;21(4):414.

20.

Eliminating barriers to personalized medicine: learning from neurofibromatosis type 1.

Gutmann DH.

Neurology. 2014 Jul 29;83(5):463-71. doi: 10.1212/WNL.0000000000000652. Epub 2014 Jun 27. Review.

PMID:
24975854
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