PMC Articles for MedGen (Select 1656136) - PMC

Select item 106144351.

Childhood-Onset Refractory Hypertension Results from Neurofibromatosis Type 1 Caused by a Splicing NF1 Mutation

Yi-Ting Lu, Buweimairemu Rejiepu, Di Zhang, Dong-Cheng Cai, Kun-Qi Yang, Tao Tian, Xian-Liang Zhou, Peng Fan

Kidney Blood Press Res. 2023 Jan-Dec; 48(1): 568–577. Published online 2023 Aug 10. doi: 10.1159/000533144

PMCID:: PMC10614435

Select item 96265762.

Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1

Viola Alesi, Francesca Romana Lepri, Maria Lisa Dentici, Silvia Genovese, Ester Sallicandro, Kristel Bejo, Bruno Dallapiccola, Rossella Capolino, Antonio Novelli, Maria Cristina Digilio

Eur J Hum Genet. 2022 Nov; 30(11): 1239–1243. Published online 2022 Jul 26. doi: 10.1038/s41431-022-01153-3

PMCID:: PMC9626576

Article PDF–629K

Select item 89107993.

ADC Histogram Analysis of Pediatric Low-Grade Glioma Treated with Selumetinib: A Report from the Pediatric Brain Tumor Consortium

S. Vajapeyam, D. Brown, A. Ziaei, S. Wu, G. Vezina, J.S. Stern, A. Panigrahy, Z. Patay, B. Tamrazi, J.Y. Jones, S.S. Haque, D.S. Enterline, S. Cha, B.V. Jones, K.W. Yeom, A. Onar-Thomas, I.J. Dunkel, M. Fouladi, J.R. Fangusaro, T.Y. Poussaint

AJNR Am J Neuroradiol. 2022 Mar; 43(3): 455–461. doi: 10.3174/ajnr.A7433

PMCID:: PMC8910799

Article PDF–1.3M

Select item 78545124.

Activation of receptor tyrosine kinases mediates acquired resistance to MEK inhibition in malignant peripheral nerve sheath tumors

Jiawan Wang, Kai Pollard, Ana Calizo, Christine A. Pratilas

Cancer Res. Author manuscript; available in PMC 2021 Aug 1.

Published in final edited form as: Cancer Res. 2021 Feb 1; 81(3): 747–762. Published online 2020 Nov 17. doi: 10.1158/0008-5472.CAN-20-1992

PMCID:: PMC7854512

Article PDF–3.1M

Select item 67746155.

Hyperactive Transforming Growth Factor-β1 Signaling Potentiates Skeletal Defects in a Neurofibromatosis Type 1 Mouse Model

Steven D Rhodes, Xiaohua Wu, Yongzheng He, Shi Chen, Hao Yang, Karl W Staser, Jiapeng Wang, Ping Zhang, Chang Jiang, Hiroki Yokota, Ruizhi Dong, Xianghong Peng, Xianlin Yang, Sreemala Murthy, Mohamad Azhar, Khalid S Mohammad, Mingjiang Xu, Theresa A Guise, Feng-Chun Yang

J Bone Miner Res. Author manuscript; available in PMC 2019 Oct 2.

Published in final edited form as: J Bone Miner Res. 2013 Dec; 28(12): 2476–2489. doi: 10.1002/jbmr.1992

PMCID:: PMC6774615

Article PDF–2.6M

Select item 66282026.

Selumetinib in Children with BRAF-Aberrant or Neurofibromatosis type 1-Associated Recurrent, Refractory or Progressive Low-Grade Glioma: a Multi-Center Phase II Trial

J Fangusaro, A Onar-Thomas, TY Poussaint, S Wu, AH Ligon, N Lindeman, A Banerjee, RJ Packer, L Kilburn, S Goldman, IF Pollack, I Qaddoumi, RI Jakacki, PG Fisher, G Dhall, P Baxter, S Kreissman, CF Stewart, DTW Jones, SM Pfister, G Vezina, JS Stern, A Panigrahy, Z Patay, B Tamrazi, JY Jones, S Haque, DS Enterline, S Cha, MJ Fisher, LA Doyle, M Smith, IJ Dunkel, M Fouladi

Lancet Oncol. Author manuscript; available in PMC 2020 Jul 1.

Published in final edited form as: Lancet Oncol. 2019 Jul; 20(7): 1011–1022. Published online 2019 May 28. doi: 10.1016/S1470-2045(19)30277-3

PMCID:: PMC6628202

Article PDF–1.0M

Select item 62586977.

NF1 heterozygosity fosters de novo tumorigenesis but impairs malignant transformation

Jean-Philippe Brosseau, Chung-Ping Liao, Yong Wang, Vijay Ramani, Travis Vandergriff, Michelle Lee, Amisha Patel, Kiyoshi Ariizumi, Lu Q. Le

Nat Commun. 2018; 9: 5014. Published online 2018 Nov 27. doi: 10.1038/s41467-018-07452-y

PMCID:: PMC6258697

Article PDF–2.3M

Select item 61425198.

Myelodysplastic and myeloproliferative disorders of childhood

Henrik Hasle

Hematology Am Soc Hematol Educ Program. 2016 Dec 2; 2016(1): 598–604. doi: 10.1182/asheducation-2016.1.598

PMCID:: PMC6142519

Article PDF–701K

Select item 42299839.

SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints

Julia Vogt, Kathrin Bengesser, Kathleen BM Claes, Katharina Wimmer, Victor-Felix Mautner, Rick van Minkelen, Eric Legius, Hilde Brems, Meena Upadhyaya, Josef Högel, Conxi Lazaro, Thorsten Rosenbaum, Simone Bammert, Ludwine Messiaen, David N Cooper, Hildegard Kehrer-Sawatzki

Genome Biol. 2014; 15(6): R80. Published online 2014 Jun 2. doi: 10.1186/gb-2014-15-6-r80

PMCID:: PMC4229983

Article PDF–1.3M

Select item 384856810.

Molecular-guided therapy predictions reveal drug resistance phenotypes and treatment alternatives in malignant peripheral nerve sheath tumors

Jacqueline D Peacock, David Cherba, Kevin Kampfschulte, Mallory K Smith, Noel R Monks, Craig P Webb, Matthew Steensma

J Transl Med. 2013; 11: 213. Published online 2013 Sep 17. doi: 10.1186/1479-5876-11-213

PMCID:: PMC3848568

Article PDF–2.4M

Select item 353328111.

Sustained MEK inhibition abrogates myeloproliferative disease in Nf1 mutant mice

Tiffany Chang, Kimberly Krisman, Emily Harding Theobald, Jin Xu, Jon Akutagawa, Jennifer O. Lauchle, Scott Kogan, Benjamin S. Braun, Kevin Shannon

J Clin Invest. 2013 Jan 2; 123(1): 335–339. Published online 2012 Dec 10. doi: 10.1172/JCI63193

Correction in:: J Clin Invest. 2016 Jan 4; 126(1): 404.

PMCID:: PMC3533281

Article PDF–584K

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