Now showing items 1-14 of 14

    • Analysis of a Mouse Skin Model of Tuberous Sclerosis Complex 

      Guo, Yanan; Dreier, John R.; Cao, Juxiang; Du, Heng; Granter, Scott R.; Kwiatkowski, David J. (Public Library of Science, 2016)
      Tuberous Sclerosis Complex (TSC) is an autosomal dominant tumor suppressor gene syndrome in which patients develop several types of tumors, including facial angiofibroma, subungual fibroma, Shagreen patch, angiomyolipomas, ...
    • Distinct patterns of somatic genome alterations in lung adenocarcinomas and squamous cell carcinomas 

      Campbell, Joshua D.; Alexandrov, Anton; Kim, Jaegil; Wala, Jeremiah; Berger, Alice H.; Pedamallu, Chandra Sekhar; Shukla, Sachet A.; Guo, Guangwu; Brooks, Angela N.; Murray, Bradley A.; Imielinski, Marcin; Hu, Xin; Ling, Shiyun; Akbani, Rehan; Rosenberg, Mara; Cibulskis, Carrie; Ramachandran, Aruna; Collisson, Eric A.; Kwiatkowski, David J.; Lawrence, Michael S.; Weinstein, John N.; Verhaak, Roel G. W.; Wu, Catherine J.; Hammerman, Peter S.; Cherniack, Andrew D.; Getz, Gad; Artyomov, Maxim N.; Schreiber, Robert; Govindan, Ramaswamy; Meyerson, Matthew (2016)
      To compare lung adenocarcinoma (ADC) and lung squamous cell carcinoma (SqCC) and to identify new drivers of lung carcinogenesis, we examined exome sequences and copy number profiles of 660 lung ADC and 484 lung SqCC ...
    • Estradiol and mTORC2 cooperate to enhance prostaglandin biosynthesis and tumorigenesis in TSC2-deficient LAM cells 

      Li, Chenggang; Lee, Po-Shun; Sun, Yang; Gu, Xiaoxiao; Zhang, Erik; Guo, Yanan; Wu, Chin-Lee; Auricchio, Neil; Priolo, Carmen; Li, Jing; Csibi, Alfredo; Parkhitko, Andrey; Morrison, Tasha; Planaguma, Anna; Kazani, Shamsah; Israel, Elliot; Xu, Kai-Feng; Henske, Elizabeth Petri; Blenis, John; Levy, Bruce D.; Kwiatkowski, David; Yu, Jane J. (The Rockefeller University Press, 2014)
      Lymphangioleiomyomatosis (LAM) is a progressive neoplastic disorder that leads to lung destruction and respiratory failure primarily in women. LAM is typically caused by tuberous sclerosis complex 2 (TSC2) mutations resulting ...
    • Identification of Nine Genomic Regions of Amplification in Urothelial Carcinoma, Correlation with Stage, and Potential Prognostic and Therapeutic Value 

      Chekaluk, Yvonne; Wu, Chin-Lee; Rosenberg, Jonathan; Riester, Markus; Dai, Qishan; Lin, Sharron X; Guo, Yanan; McDougal, William Scott; Kwiatkowski, David Joseph (Public Library of Science, 2013)
      We performed a genome wide analysis of 164 urothelial carcinoma samples and 27 bladder cancer cell lines to identify copy number changes associated with disease characteristics, and examined the association of amplification ...
    • Multi-institutional Oncogenic Driver Mutation Analysis in Lung Adenocarcinoma: The Lung Cancer Mutation Consortium Experience 

      Sholl, Lynette Marie; Aisner, Dara L.; Varella-Garcia, Marileila; Berry, Lynne D.; Dias-Santagata, Dora; Wistuba, Ignacio I.; Chen, Heidi; Fujimoto, Junya; Kugler, Kelly; Franklin, Wilbur A.; Iafrate, Anthony John; Ladanyi, Marc; Kris, Mark G.; Johnson, Bruce Evan; Bunn, Paul A.; Minna, John D.; Kwiatkowski, David Joseph (Elsevier BV, 2015)
      Introduction Molecular genetic analyses of lung adenocarcinoma have recently become standard of care for treatment selection. The Lung Cancer Mutation Consortium was formed to enable collaborative multi-institutional ...
    • Rapamycin-Insensitive Up-Regulation of Adipocyte Phospholipase A2 in Tuberous Sclerosis and Lymphangioleiomyomatosis 

      Li, Chenggang; Zhang, Erik; Sun, Yang; Lee, Po-Shun; Zhan, Yongzhong; Guo, Yanan; Osorio, Juan C.; Rosas, Ivan O.; Xu, Kai-Feng; Kwiatkowski, David J.; Yu, Jane J. (Public Library of Science, 2014)
      Tuberous sclerosis syndrome (TSC) is an autosomal dominant tumor suppressor gene syndrome affecting multiple organs, including renal angiomyolipomas and pulmonary lymphangioleiomyomatosis (LAM). LAM is a female-predominant ...
    • Regulation of YAP by mTOR and autophagy reveals a therapeutic target of tuberous sclerosis complex 

      Liang, Ning; Zhang, Chi; Dill, Patricia; Panasyuk, Ganna; Pion, Delphine; Koka, Vonda; Gallazzini, Morgan; Olson, Eric N.; Lam, Hilaire; Henske, Elizabeth P.; Dong, Zheng; Apte, Udayan; Pallet, Nicolas; Johnson, Randy L.; Terzi, Fabiola; Kwiatkowski, David J.; Scoazec, Jean-Yves; Martignoni, Guido; Pende, Mario (The Rockefeller University Press, 2014)
      Genetic studies have shown that the tuberous sclerosis complex (TSC) 1–TSC2–mammalian target of Rapamycin (mTOR) and the Hippo–Yes-associated protein 1 (YAP) pathways are master regulators of organ size, which are often ...
    • Somatic ERCC2 Mutations Are Associated with a Distinct Genomic Signature in Urothelial Tumors 

      Kim, Jaegil; Mouw, Kent W; Polak, Paz; Braunstein, Lior Z; Kamburov, Atanas; Kwiatkowski, David J; Rosenberg, Jonathan E; Van Allen, Eliezer M; D'Andrea, Alan; Getz, Gad (2016)
      Alterations in DNA repair pathways are common in tumors and can result in characteristic mutational signatures; however, a specific mutational signature associated with somatic alterations in the nucleotide excision repair ...
    • Stochastic Model of Tsc1 Lesions in Mouse Brain 

      Prabhakar, Shilpa; Goto, June; Zuang, Xuan; Sena-Esteves, Miguel; Bronson, Roderick Terry; Brockmann, Jillian; Gianni, Davide; Wojtkiewicz, Gregory R.; Chen, John Wen-Yueh; Stemmer-Rachamimov, Anat; Kwiatkowski, David Joseph; Breakefield, Xandra Owens (Public Library of Science, 2013)
      Tuberous sclerosis complex (TSC) is an autosomal dominant disorder due to mutations in either TSC1 or TSC2 that affects many organs with hamartomas and tumors. TSC-associated brain lesions include subependymal nodules, ...
    • Summary and Recommendations from the National Cancer Institute’s Clinical Trials Planning Meeting on Novel Therapeutics for Non-Muscle Invasive Bladder Cancer 

      Lerner, Seth P.; Bajorin, Dean F.; Dinney, Colin P.; Efstathiou, Jason A.; Groshen, Susan; Hahn, Noah M.; Hansel, Donna; Kwiatkowski, David; O’Donnell, Michael; Rosenberg, Jonathan; Svatek, Robert; Abrams, Jeffrey S.; Al-Ahmadie, Hikmat; Apolo, Andrea B.; Bellmunt, Joaquim; Callahan, Margaret; Cha, Eugene K.; Drake, Charles; Jarow, Jonathan; Kamat, Ashish; Kim, William; Knowles, Margaret; Mann, Bhupinder; Marchionni, Luigi; McConkey, David; McShane, Lisa; Ramirez, Nilsa; Sharabi, Andrew; Sharpe, Arlene H.; Solit, David; Tangen, Catherine M.; Amiri, Abdul Tawab; Van Allen, Eliezer; West, Pamela J.; Witjes, J. A.; Quale, Diane Zipursky (IOS Press, 2016)
      The NCI Bladder Cancer Task Force convened a Clinical Trials Planning Meeting (CTPM) Workshop focused on Novel Therapeutics for Non-Muscle Invasive Bladder Cancer (NMIBC). Meeting attendees included a broad and multi-disciplinary ...
    • Therapeutic Trial of Metformin and Bortezomib in a Mouse Model of Tuberous Sclerosis Complex (TSC) 

      Auricchio, Neil; Malinowska, Izabela A; Shaw, Reuben; Manning, Brendan D.; Kwiatkowski, David Joseph (Public Library of Science, 2012)
      Tuberous sclerosis complex (TSC) is a human genetic disorder in which loss of either TSC1 or TSC2 leads to development of hamartoma lesions, which can progress and be life-threatening or fatal. The TSC1/TSC2 protein complex ...
    • Tsc1-Tp53 loss induces mesothelioma in mice, and evidence for this mechanism in human mesothelioma 

      Guo, Yanan; Chirieac, Lucian R.; Bueno, Raphael; Pass, Harvey; Wu, Wenhao; Malinowska, Izabela A.; Kwiatkowski, David J. (2014)
      Mesothelioma is diagnosed in approximately 2,500 patients in the United States every year, most often arising in the pleural space, but also occurring as primary peritoneal mesothelioma. The vast majority of patients with ...
    • Tuberous sclerosis complex neuropathology requires glutamate-cysteine ligase 

      Malik, Anna R.; Liszewska, Ewa; Skalecka, Agnieszka; Urbanska, Malgorzata; Iyer, Anand M.; Swiech, Lukasz J.; Perycz, Malgorzata; Parobczak, Kamil; Pietruszka, Patrycja; Zarebska, Malgorzata M.; Macias, Matylda; Kotulska, Katarzyna; Borkowska, Julita; Grajkowska, Wieslawa; Tyburczy, Magdalena E.; Jozwiak, Sergiusz; Kwiatkowski, David J.; Aronica, Eleonora; Jaworski, Jacek (BioMed Central, 2015)
      Introduction: Tuberous sclerosis complex (TSC) is a genetic disease resulting from mutation in TSC1 or TSC2 and subsequent hyperactivation of mammalian Target of Rapamycin (mTOR). Common TSC features include brain lesions, ...
    • Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development 

      Giannikou, Krinio; Malinowska, Izabela A.; Pugh, Trevor J.; Yan, Rachel; Tseng, Yuen-Yi; Oh, Coyin; Kim, Jaegil; Tyburczy, Magdalena E.; Chekaluk, Yvonne; Liu, Yang; Alesi, Nicola; Finlay, Geraldine A.; Wu, Chin-Lee; Signoretti, Sabina; Meyerson, Matthew; Getz, Gad; Boehm, Jesse S.; Henske, Elizabeth P.; Kwiatkowski, David J. (Public Library of Science, 2016)
      Renal angiomyolipoma is a kidney tumor in the perivascular epithelioid (PEComa) family that is common in patients with Tuberous Sclerosis Complex (TSC) and Lymphangioleiomyomatosis (LAM) but occurs rarely sporadically. ...