Franz DN - Search Results

1

Identification of S664 TSC2 phosphorylation as a marker for extracellular signal-regulated kinase mediated mTOR activation in tuberous sclerosis and human cancer.

Ma L, Teruya-Feldstein J, Bonner P, Bernardi R, Franz DN, Witte D, Cordon-Cardo C, Pandolfi PP. Ma L, et al. Among authors: franz dn. Cancer Res. 2007 Aug 1;67(15):7106-12. doi: 10.1158/0008-5472.CAN-06-4798. Cancer Res. 2007. PMID: 17671177

2

Tuberin Regulates Prostaglandin Receptor-Mediated Viability, via Rheb, in mTORC1-Hyperactive Cells.

Li C, Liu X, Liu Y, Zhang E, Medepalli K, Masuda K, Li N, Wikenheiser-Brokamp KA, Osterburg A, Borchers MT, Kopras EJ, Plas DR, Sun J, Franz DN, Capal JK, Mays M, Sun Y, Kwiatkowski DJ, Alayev A, Holz MK, Krueger DA, Siroky BJ, Yu JJ. Li C, et al. Among authors: franz dn. Mol Cancer Res. 2017 Oct;15(10):1318-1330. doi: 10.1158/1541-7786.MCR-17-0077. Epub 2017 Jul 14. Mol Cancer Res. 2017. PMID: 28710231

3

Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations.

Kozlowski P, Roberts P, Dabora S, Franz D, Bissler J, Northrup H, Au KS, Lazarus R, Domanska-Pakiela D, Kotulska K, Jozwiak S, Kwiatkowski DJ. Kozlowski P, et al. Hum Genet. 2007 May;121(3-4):389-400. doi: 10.1007/s00439-006-0308-9. Epub 2007 Feb 8. Hum Genet. 2007. PMID: 17287951

4

Tuberous sclerosis complex: neurological, renal and pulmonary manifestations.

Franz DN, Bissler JJ, McCormack FX. Franz DN, et al. Neuropediatrics. 2010 Oct;41(5):199-208. doi: 10.1055/s-0030-1269906. Epub 2011 Jan 5. Neuropediatrics. 2010. PMID: 21210335 Free PMC article. Review.

5

Everolimus: an mTOR inhibitor for the treatment of tuberous sclerosis.

Franz DN. Franz DN. Expert Rev Anticancer Ther. 2011 Aug;11(8):1181-92. doi: 10.1586/era.11.93. Expert Rev Anticancer Ther. 2011. PMID: 21916571 Review.

6

Molecular therapies for tuberous sclerosis and neurofibromatosis.

Franz DN, Weiss BD. Franz DN, et al. Curr Neurol Neurosci Rep. 2012 Jun;12(3):294-301. doi: 10.1007/s11910-012-0269-4. Curr Neurol Neurosci Rep. 2012. PMID: 22544507 Review.

7

Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2.

Kwiatkowski DJ, Palmer MR, Jozwiak S, Bissler J, Franz D, Segal S, Chen D, Sampson JR. Kwiatkowski DJ, et al. Eur J Hum Genet. 2015 Dec;23(12):1665-72. doi: 10.1038/ejhg.2015.47. Epub 2015 Mar 18. Eur J Hum Genet. 2015. PMID: 25782670 Free PMC article. Clinical Trial.

8

Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing.

Tyburczy ME, Dies KA, Glass J, Camposano S, Chekaluk Y, Thorner AR, Lin L, Krueger D, Franz DN, Thiele EA, Sahin M, Kwiatkowski DJ. Tyburczy ME, et al. Among authors: franz dn. PLoS Genet. 2015 Nov 5;11(11):e1005637. doi: 10.1371/journal.pgen.1005637. eCollection 2015 Nov. PLoS Genet. 2015. PMID: 26540169 Free PMC article.

9

Meta-analysis of stomatitis in clinical studies of everolimus: incidence and relationship with efficacy.

Rugo HS, Hortobagyi GN, Yao J, Pavel M, Ravaud A, Franz D, Ringeisen F, Gallo J, Rouyrre N, Anak O, Motzer R. Rugo HS, et al. Ann Oncol. 2016 Mar;27(3):519-25. doi: 10.1093/annonc/mdv595. Epub 2016 Jan 11. Ann Oncol. 2016. PMID: 26759276 Free PMC article.

10

Short-term safety of mTOR inhibitors in infants and very young children with tuberous sclerosis complex (TSC): Multicentre clinical experience.

Krueger DA, Capal JK, Curatolo P, Devinsky O, Ess K, Tzadok M, Koenig MK, Narayanan V, Ramos F, Jozwiak S, de Vries P, Jansen AC, Wong M, Mowat D, Lawson J, Bruns S, Franz DN; TSCure Research Group. Krueger DA, et al. Among authors: franz dn. Eur J Paediatr Neurol. 2018 Nov;22(6):1066-1073. doi: 10.1016/j.ejpn.2018.06.007. Epub 2018 Jul 4. Eur J Paediatr Neurol. 2018. PMID: 30005812

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