S
Sandra L. Dabora
Researcher at Brigham and Women's Hospital
Publications - 26
Citations - 2930
Sandra L. Dabora is an academic researcher from Brigham and Women's Hospital. The author has contributed to research in topics: Tuberous sclerosis & TSC1. The author has an hindex of 19, co-authored 26 publications receiving 2749 citations. Previous affiliations of Sandra L. Dabora include Biogen Idec & Harvard University.
Papers
More filters
Journal ArticleDOI
Mutational Analysis in a Cohort of 224 Tuberous Sclerosis Patients Indicates Increased Severity of TSC2, Compared with TSC1, Disease in Multiple Organs
Sandra L. Dabora,Sergiusz Jozwiak,David Neal Franz,Penelope S. Roberts,Andres Nieto,Joon Chung,Yew-Sing Choy,Yew-Sing Choy,Mary Pat Reeve,Elizabeth A. Thiele,John C. Egelhoff,Jolanta Kasprzyk-Obara,Dorota Domańska-Pakieła,David J. Kwiatkowski +13 more
TL;DR: The reduced severity of disease in patients without defined mutations suggests that many of these patients are mosaic for a TSC2 mutation and/or have TSC because of mutations in an as-yet-unidentified locus with a relatively mild clinical phenotype.
Journal ArticleDOI
PDGFRs are critical for PI3K/Akt activation and negatively regulated by mTOR
Hongbing Zhang,Natalia Bajraszewski,Erxi Wu,Hong-Wei Wang,Annie P. Moseman,Sandra L. Dabora,James D. Griffin,David J. Kwiatkowski +7 more
TL;DR: PDGFR is a major target of negative feedback regulation in cells with activated mTOR, which limits the growth potential of TSC tumors.
Journal ArticleDOI
Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosis.
David Neal Franz,Alan S. Brody,Cristopher A. Meyer,Jennifer Leonard,Gail Chuck,Sandra L. Dabora,Gopalan Sethuraman,Thomas V. Colby,David J. Kwiatkowski,Francis X. McCormack +9 more
TL;DR: It is demonstrated that cystic and nodular pulmonary changes consistent with LAM and MMPH are common in women with TSC and no clear association between cyst development and a specific mutational type is found.
Journal ArticleDOI
Tsc2-Rheb signaling regulates EphA-mediated axon guidance
Duyu Nie,Alessia Di Nardo,Juliette M. Han,Hasani Baharanyi,Ioannis Kramvis,Thanhthao Huynh,Sandra L. Dabora,Simone Codeluppi,Simone Codeluppi,Simone Codeluppi,Pier Paolo Pandolfi,Elena B. Pasquale,Elena B. Pasquale,Mustafa Sahin +13 more
TL;DR: It is found that Tsc2 haploinsufficiency in mice caused aberrant retinogeniculate projections that suggest defects in EphA receptor–dependent axon guidance in the visual system, and results indicate that TSC2-Rheb-mTOR signaling cooperates with the ephrin-Eph receptor system to control axon advice in thevisual system.
Journal ArticleDOI
Multicenter Phase 2 Trial of Sirolimus for Tuberous Sclerosis: Kidney Angiomyolipomas and Other Tumors Regress and VEGF- D Levels Decrease
Sandra L. Dabora,David Neal Franz,Stephen Ashwal,Arthur I. Sagalowsky,Francis J. DiMario,Daniel K. Miles,Drew Cutler,Darcy A. Krueger,Raul N. Uppot,Rahmin A. Rabenou,S. Camposano,Jan L. Paolini,Fiona M. Fennessy,Nancy Lee,Chelsey Woodrum,Judith Manola,Judy Garber,Elizabeth A. Thiele +17 more
TL;DR: A correlative biomarker study showed that serum VEGF-D levels are elevated at baseline, decrease with sirolimus treatment, and correlate with kidney angiomyolipoma size, which may be a useful biomarker for monitoring kidney angiofibromas.