Search Results - "HENSKE, E. P"

The role of the Birt-Hogg-Dubé protein in mTOR activation and renal tumorigenesis by Hartman, T R, Nicolas, E, Klein-Szanto, A, Al-Saleem, T, Cash, T P, Simon, M C, Henske, E P

“…Birt–Hogg–Dubé (BHD) syndrome is a tumor-suppressor gene disorder characterized by skin tumors, cystic lung disease and renal cell carcinoma. Very little is…”
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A tissue-bioengineering strategy for modeling rare human kidney diseases in vivo by Hernandez, J. O. R., Wang, X., Vazquez-Segoviano, M., Lopez-Marfil, M., Sobral-Reyes, M. F., Moran-Horowich, A., Sundberg, M., Lopez-Cantu, D. O., Probst, C. K., Ruiz-Esparza, G. U., Giannikou, K., Abdi, R., Henske, E. P., Kwiatkowski, D. J., Sahin, M., Lemos, D. R.

“…The lack of animal models for some human diseases precludes our understanding of disease mechanisms and our ability to test prospective therapies in vivo…”
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Differential requirement of CAAX-mediated posttranslational processing for Rheb localization and signaling by Hanker, A B, Mitin, N, Wilder, R S, Henske, E P, Tamanoi, F, Cox, A D, Der, C J

“…The Rheb1 and Rheb2 small GTPases and their effector mTOR are aberrantly activated in human cancer and are attractive targets for anti-cancer drug discovery…”
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Loss of the Birt-Hogg-Dubé tumor suppressor results in apoptotic resistance due to aberrant TGFβ-mediated transcription by Cash, T P, Gruber, J J, Hartman, T R, Henske, E P, Simon, M C

“…Birt–Hogg–Dubé (BHD) syndrome is an inherited cancer susceptibility disease characterized by skin and kidney tumors, as well as cystic lung disease, which…”
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Tuberous sclerosis-associated renal cell carcinoma. Clinical, pathological, and genetic features by Bjornsson, J, Short, MP, Kwiatkowski, DJ, Henske, EP

“…The tuberous sclerosis complex (TSC) is a multisystem autosomal dominant disorder characterized by seizures, mental retardation, and hamartomas. Patients with…”
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Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions by HENSKE, E. P, SCHEITHAUER, B. W, SHORT, M. P, WOLLMANN, R, NAHMIAS, J, HORNIGOLD, N, VAN SLEGTENHORST, M, WELSH, C. T, KWIATKOWSKI, D. J

“…Tuberous sclerosis (TSC) is an autosomal dominant disorder characterized by seizures, mental retardation, and hamartomatous lesions. Although hamartomas can…”
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Pulmonary lymphangioleiomyomatosis in a man by AUBRY, M.-C, MYERS, J. L, RYU, J. H, HENSKE, E. P, LOGGINIDOU, H, JALAL, S. M, TAZELAAR, H. D

“…Pulmonary lymphangioleiomyomatosis (LAM) is an uncommon disease reported to occur exclusively in women. We describe a phenotypically normal man with pulmonary…”
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Loss of the polycystic kidney disease (PKD1) region of chromosome 16p13 in renal cyst cells supports a loss-of-function model for cyst pathogenesis by Brasier, J L, Henske, E P

“…It is not known whether mutations in the PKD1 gene cause autosomal dominant polycystic kidney disease (PKD) by an activating (gain-of-function) or an…”
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Hamartin, the product of the tuberous sclerosis 1 (TSC1) gene, interacts with tuberin and appears to be localized to cytoplasmic vesicles by PLANK, T. L, YEUNG, R. S, HENSKE, E. P

“…Tuberous sclerosis is an inherited syndrome associated with mutations in two tumor suppressor genes: TSC1 and TSC2. Tuberin, the product of TSC2, appears to be…”
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New developments in the neurobiology of the tuberous sclerosis complex by CRINO, P. B, HENSKE, E. P

“…To outline recent developments in the neurobiology of the tuberous sclerosis complex (TSC). TSC may be associated with neuropsychiatric disorders including…”
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Evidence That Lymphangiomyomatosis Is Caused by TSC2 Mutations: Chromosome 16p13 Loss of Heterozygosity in Angiomyolipomas and Lymph Nodes from Women with Lymphangiomyomatosis by Smolarek, Teresa A., Wessner, Lisa L., McCormack, Francis X., Mylet, Johanna C., Menon, Anil G., Henske, Elizabeth Petri

“…Lymphangiomyomatosis (LAM) is a rare disease, of unknown etiology, affecting women almost exclusively. Lung transplantation is the only consistently effective…”
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Apparent renal cell carcinomas in tuberous sclerosis are heterogeneous : The identification of malignant epithelioid angiomyolipoma by PEA, M, BONETTI, F, MARTIGNONI, G, HENSKE, E. P, MANFRIN, E, COLATO, C, BERNSTEIN, J

“…Renal epithelial tumors (carcinoma and oncocytoma) have been reported with higher a frequency than expected in patients with the tuberous sclerosis complex…”
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Mutational analysis of the tuberous sclerosis gene TSC2 in patients with pulmonary lymphangioleiomyomatosis by ASTRINIDIS, A, KHARE, L, CARSILLO, T, SMOLAREK, T, AU, K.-S, NORTHRUP, H, HENSKE, E. P

“…Pulmonary lymphangioleiomyomatosis (LAM) is a rare disorder limited almost exclusively to women of reproductive age. LAM affects about 5% of women with…”
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Loss of tuberin in both subependymal giant cell astrocytomas and angiomyolipomas supports a two-hit model for the pathogenesis of tuberous sclerosis tumors by Henske, EP, Wessner, LL, Golden, J, Scheithauer, BW, Vortmeyer, AO, Zhuang, Z, Klein-Szanto, AJ, Kwiatkowski, DJ, Yeung, RS

“…Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by seizures, mental retardation, and tumors of skin, brain, heart, and kidney…”
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Malignant tumors of the kidney, brain, and soft tissues in children and young adults with the tuberous sclerosis complex by Al‐Saleem, Tahseen, Wessner, Lisa L., Scheithauer, Bernd W., Patterson, Kathleen, Roach, E. Steven, Dreyer, Stephen J., Fujikawa, Keita, Bjornsson, Johannes, Bernstein, Jay, Henske, Elizabeth Petri

“…BACKGROUND The tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by seizures, mental retardation, and benign tumors of the…”
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Frequent estrogen and progesterone receptor immunoreactivity in renal angiomyolipomas from women with pulmonary lymphangioleiomyomatosis by Logginidou, H, Ao, X, Russo, I, Henske, E P

“…To determine whether renal angiomyolipomas from women with pulmonary lymphangioleiomyomatosis (LAM) express estrogen receptor (ER) and progesterone receptor…”
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The spectrum of mutations in TSC1 and TSC2 in women with tuberous sclerosis and lymphangiomyomatosis by Strizheva, G D, Carsillo, T, Kruger, W D, Sullivan, E J, Ryu, J H, Henske, E P

“…Lymphangiomyomatosis (LAM) is a progressive and often fatal interstitial lung disease characterized by a diffuse proliferation of abnormal smooth muscle cells…”
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Estradiol promotes pentose phosphate pathway addiction and cell survival via reactivation of Akt in mTORC1 hyperactive cells by Sun, Y, Gu, X, Zhang, E, Park, M-A, Pereira, A M, Wang, S, Morrison, T, Li, C, Blenis, J, Gerbaudo, V H, Henske, E P, Yu, J J

“…Lymphangioleiomyomatosis (LAM) is a female-predominant interstitial lung disease that can lead to respiratory failure. LAM cells typically have inactivating…”
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Autophagy: Mechanisms, regulation, and its role in tumorigenesis by Parkhitko, A. A., Favorova, O. O., Henske, E. P.

“…Autophagy (from Greek “auto” — self, “phagos” — to eat) is the major catabolic process involved in the delivery and lysosomal degradation of long-lived…”
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Tuberous sclerosis complex: linking growth and energy signaling pathways with human disease by Astrinidis, Aristotelis, Henske, Elizabeth P

“…The most exciting advances in the tuberous sclerosis complex (TSC) field occurred in 1993 and 1997 with the cloning of the TSC2 and TSC1 genes, respectively,…”
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