Publications - Tuberous Sclerosis

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Allelic expression imbalance (AEI) and vairability of phenotype in tuberous sclerosis complex. Jentarra, G., Rice, S., Olfers, S. and Narayanan, V. SFN, 2008. [abstract] 

Allelic expression imbalance (AEI) and vairability of phenotype in tuberous sclerosis complex. Jentarra, G., Rice, S., Olfers, S. and Narayanan, V. Southern Pediatric Neurology Society, 2008. [abstract] 

Allelic expression imbalance (AEI) of the TSC genes. Rice, S., Jentarra, G., Snyder, S., Narayanan, V. CNS meeting, Santa Clara, CA., 2008. [abstract] 

Allelic expression imbalance (AEI) of the TSC1 and TSC2 genes. Rice, S., Jentarra, G., Snyuder, S., Vallejo, J. and Narayanan, V. SFN, 2007. [abstract] 

Allelic expression imbalance as a determinant of phenotypic variability in tuberous sclerosis complex. Rice, S., Jentarra, G. and Narayanan, V. TS Meeting, 2007 [abstract] 

Analysis of TSC cortical tubers by deep sequencing of TSC1, TSC2 and KRAS demosntrates that small second-hit mutations in these genes are rare events. Qin, W., Chan, J.A., Vinters, H.V., Mathern, G.W., Franz, D.N., Taillon, B.E., Bouffard, P. and Kwiatkowski, D.J. Brain Pathology ISSN 1015-6305, 2010. [paper] 

Genetic polymorphisms in OGG, and it's association with angiomyolipomas, a benign kidney tumor in patients with tuberous sclerosis. Habib, S., Daniel, E., Subrats, N., Schneider, J., Duggirals, R, Abbouol, H and thameem, F. Cancer Biology & Therapy 7:1-5, 2008. [paper] 

Genetic polymorphisms in OGG, and it's association with angiomyolipomas, a benign kidney tumor in patients with tuberous sclerosis. Habib, S., Duggirala, R., Abboud, H and Thameem, F. TS Meeting, 2007. [abstract] 

Insight into mechanism of oxidative DNA damage in angiomyolipomas from TSC patients. Habib, S. Molecular Cancer 8:13, 2009. [paper] 

Interferon-y-Jak-Stat signaling in pulmonary lymphangioleiomyomatosis and renal angiomyolipoma. El-Hashemite, N. and Kwiatkowski, D. Amer. J. Respir. Cell. Mol. Biol. 33: 227-230, 2005. [paper] 

ROS generation and NAD(P)h oxidases expression are increased in TSC-deficient cells and in renal tissue of patients with tuberous sclerosis. Habib, S., Block, K., Gorin, Y. and Abbounel, H. American Society of Nephrology, 2005. [abstract] 

Selective alterations in glutamate and GABA receptor subunit mRNA expression in dysplastic neurons and giant cells of cortical tubers. White, R., Hua, Y., Scheithauer, B., Lynch, D.R., Henske, E.P. and Crino, P.B. Ann. Neurol. 49: 67-78, 2001. [paper] 

Tumor suppressor TSC2 downregulates DNA depair enzyme B-oxoguanine-DNA-glycosylase (OGG1) in cultured cells and renal tissue of patients with tuberous sclerosis. Habib, S., Abboud, H. and Murphy, A. American Society of Nephrology, 2004. [abstract] 

Tumor suppressor TSC2 downregulates DNA repair enzyme B-oxoguanine-DNA-glycosylase (OGG1) in cultured cells and renal tissue of patients with tuberous sclerosis. Habib, S., Abboud, H. and Murphy, A. 13th Annual Cancer Reserach Symposium, 2004. [abstract]