Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Institute of Neurological Disorders and Stroke (NINDS)
Type
Research Project (R01)
Project #
3R01NS031535-09S2
Application #
6777433
Study Section
Special Emphasis Panel (ZRG1)
Program Officer
Spinella, Giovanna M
Project Start
1994-01-20
Project End
2007-02-28
Budget Start
2002-03-15
Budget End
2003-02-28
Support Year
9
Fiscal Year
2003
Total Cost
$50,000
Indirect Cost

  Institution

Name
Brigham and Women's Hospital
Department
Type
DUNS #
030811269
City
Boston
State
MA
Country
United States
Zip Code
02115

  Publications

Qin, Wei; Chan, Jennifer A; Vinters, Harry V et al. (2010) Analysis of TSC cortical tubers by deep sequencing of TSC1, TSC2 and KRAS demonstrates that small second-hit mutations in these genes are rare events. Brain Pathol 20:1096-105
Qin, Wei; Kozlowski, Piotr; Taillon, Bruce E et al. (2010) Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex. Hum Genet 127:573-82
Mozaffari, Melika; Hoogeveen-Westerveld, Marianne; Kwiatkowski, David et al. (2009) Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex. BMC Med Genet 10:88
Camposano, S E; Greenberg, E; Kwiatkowski, D J et al. (2009) Distinct clinical characteristics of tuberous sclerosis complex patients with no mutation identified. Ann Hum Genet 73:141-6
Kozlowski, Piotr; Bissler, John; Pei, York et al. (2008) Analysis of PKD1 for genomic deletion by multiplex ligation-dependent probe assay: absence of hot spots. Genomics 91:203-8
Choi, Yong-Jin; Di Nardo, Alessia; Kramvis, Ioannis et al. (2008) Tuberous sclerosis complex proteins control axon formation. Genes Dev 22:2485-95
Finlay, Geraldine A; Malhowski, Amy J; Liu, Yingling et al. (2007) Selective inhibition of growth of tuberous sclerosis complex 2 null cells by atorvastatin is associated with impaired Rheb and Rho GTPase function and reduced mTOR/S6 kinase activity. Cancer Res 67:9878-86
Kozlowski, Piotr; Roberts, Penelope; Dabora, Sandra et al. (2007) Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations. Hum Genet 121:389-400
Juvet, Stephen C; McCormack, Francis X; Kwiatkowski, David J et al. (2007) Molecular pathogenesis of lymphangioleiomyomatosis: lessons learned from orphans. Am J Respir Cell Mol Biol 36:398-408
Zhang, Hongbing; Bajraszewski, Natalia; Wu, Erxi et al. (2007) PDGFRs are critical for PI3K/Akt activation and negatively regulated by mTOR. J Clin Invest 117:730-8

Showing the most recent 10 out of 46 publications