Zobrazeno 1 - 10
of 704
pro vyhledávání: '"David J Kwiatkowski"'
Autor:
Evelyn M Mrozek, Vineeta Bajaj, Yanan Guo, Izabela A Malinowska, Jianming Zhang, David J Kwiatkowski
Publikováno v:
PLoS ONE, Vol 16, Iss 4, p e0248380 (2021)
Inactivating mutations in either TSC1 or TSC2 cause Tuberous Sclerosis Complex, an autosomal dominant disorder, characterized by multi-system tumor and hamartoma development. Mutation and loss of function of TSC1 and/or TSC2 also occur in a variety o
Externí odkaz:
https://doaj.org/article/909a6fb01eae496fab917357e7b74006
Autor:
Lana Hamieh, Toni K Choueiri, Barbara Ogórek, Damir Khabibullin, Daniel Rosebrock, Dimitri Livitz, Andre Fay, Jean-Christophe Pignon, David F McDermott, Neeraj Agarwal, Wenhua Gao, Sabina Signoretti, David J Kwiatkowski
Publikováno v:
PLoS Genetics, Vol 14, Iss 9, p e1007679 (2018)
The mechanistic target of rapamycin (mTOR) is an established therapeutic target in renal cell carcinoma (RCC). Mechanisms of secondary resistance to rapalog therapy in RCC have not been studied previously. We identified six patients with metastatic R
Externí odkaz:
https://doaj.org/article/9dcbcecb10d742ed89ffffbe5b3da54b
Autor:
Krinio Giannikou, Izabela A Malinowska, Trevor J Pugh, Rachel Yan, Yuen-Yi Tseng, Coyin Oh, Jaegil Kim, Magdalena E Tyburczy, Yvonne Chekaluk, Yang Liu, Nicola Alesi, Geraldine A Finlay, Chin-Lee Wu, Sabina Signoretti, Matthew Meyerson, Gad Getz, Jesse S Boehm, Elizabeth P Henske, David J Kwiatkowski
Publikováno v:
PLoS Genetics, Vol 12, Iss 8, p e1006242 (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. Though histologically benign, r
Externí odkaz:
https://doaj.org/article/879cb1fddd944073a165168f645a57ed
Publikováno v:
PLoS ONE, Vol 11, Iss 12, p e0167384 (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, and lymphangioleiomyomatosi
Externí odkaz:
https://doaj.org/article/4cbc3f76f7684e43958b2df227b38f53
Autor:
Magdalena E Tyburczy, Kira A Dies, Jennifer Glass, Susana Camposano, Yvonne Chekaluk, Aaron R Thorner, Ling Lin, Darcy Krueger, David N Franz, Elizabeth A Thiele, Mustafa Sahin, David J Kwiatkowski
Publikováno v:
PLoS Genetics, Vol 11, Iss 11, p e1005637 (2015)
Tuberous sclerosis complex (TSC) is an autosomal dominant tumor suppressor gene syndrome due to germline mutations in either TSC1 or TSC2. 10-15% of TSC individuals have no mutation identified (NMI) after thorough conventional molecular diagnostic as
Externí odkaz:
https://doaj.org/article/a7cbe20f701349f5960bcf10a0cf23f9
Autor:
Chenggang Li, Erik Zhang, Yang Sun, Po-Shun Lee, Yongzhong Zhan, Yanan Guo, Juan C Osorio, Ivan O Rosas, Kai-Feng Xu, David J Kwiatkowski, Jane J Yu
Publikováno v:
PLoS ONE, Vol 9, Iss 10, p e104809 (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 interstitial lung disease c
Externí odkaz:
https://doaj.org/article/3e4c5f336bae4f4c9e51c1d13b9fd0e6
Autor:
Yvonne Chekaluk, Chin-Lee Wu, Jonathan Rosenberg, Markus Riester, Qishan Dai, Sharron Lin, Yanan Guo, W Scott McDougal, David J Kwiatkowski
Publikováno v:
PLoS ONE, Vol 8, Iss 4, p e60927 (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 events with stage and grad
Externí odkaz:
https://doaj.org/article/458e81fa12d44c06abf84cc17e3a1e99
Autor:
Shilpa Prabhakar, June Goto, Xuan Zhang, Miguel Sena-Esteves, Roderick Bronson, Jillian Brockmann, Davide Gianni, Gregory R Wojtkiewicz, John W Chen, Anat Stemmer-Rachamimov, David J Kwiatkowski, Xandra O Breakefield
Publikováno v:
PLoS ONE, Vol 8, Iss 5, p e64224 (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, subependymal giant cell astrocy
Externí odkaz:
https://doaj.org/article/5f558ade42cb4e4a9a91f58926368bc7
Publikováno v:
PLoS ONE, Vol 7, Iss 2, p e31900 (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 regulates the state of act
Externí odkaz:
https://doaj.org/article/72671e4b03ab4e57a629607d5c8c08e6
Autor:
Wei Qin, Vineeta Bajaj, Izabela Malinowska, Xin Lu, Laura MacConaill, Chin-Lee Wu, David J Kwiatkowski
Publikováno v:
PLoS ONE, Vol 6, Iss 9, p e24919 (2011)
Renal angiomyolipoma are part of the PEComa family of neoplasms, and occur both in association with Tuberous Sclerosis Complex (TSC) and independent of that disorder. Previous studies on the molecular genetic alterations that occur in angiomyolipoma
Externí odkaz:
https://doaj.org/article/20c6ba53d2e14e1e9937d6b9a9db5743