Tuberin (BioDeep_00000841883)
Volatile Flavor Compounds
代谢物信息卡片
Tuberin
化学式: C10H11NO2 (177.0789746)
中文名称: 块茎素
谱图信息:
最多检出来源 () 0%
分子结构信息
SMILES: COC1=CC=C(C=C1)C=CNC=O
InChI: InChI=1S/C10H11NO2/c1-13-10-4-2-9(3-5-10)6-7-11-8-12/h2-8H,1H3,(H,11,12)/b7-6+
数据库引用编号
5 个数据库交叉引用编号
- PubChem: 5352006
- ChEMBL: CHEMBL1967986
- MeSH: Tuberous Sclerosis Complex 2 Protein
- CAS: 53643-53-1
- CAS: 2501-37-3
分类词条
相关代谢途径
Reactome(0)
BioCyc(0)
PlantCyc(0)
代谢反应
0 个相关的代谢反应过程信息。
Reactome(0)
BioCyc(0)
WikiPathways(0)
Plant Reactome(0)
INOH(0)
PlantCyc(0)
COVID-19 Disease Map(0)
PathBank(0)
PharmGKB(0)
0 个相关的物种来源信息
在这里通过桑基图来展示出与当前的这个代谢物在我们的BioDeep知识库中具有相关联信息的其他代谢物。在这里进行关联的信息来源主要有：
- PubMed: 来源于PubMed文献库中的文献信息，我们通过自然语言数据挖掘得到的在同一篇文献中被同时提及的相关代谢物列表，这个列表按照代谢物同时出现的文献数量降序排序，取前10个代谢物作为相关研究中关联性很高的代谢物集合展示在桑基图中。
- NCBI Taxonomy: 通过文献数据挖掘，得到的代谢物物种来源信息关联。这个关联信息同样按照出现的次数降序排序，取前10个代谢物作为高关联度的代谢物集合展示在桑吉图上。
- Chemical Taxonomy: 在物质分类上处于同一个分类集合中的其他代谢物
- Chemical Reaction: 在化学反应过程中，存在为当前代谢物相关联的生化反应过程中的反应底物或者反应产物的关联代谢物信息。
点击图上的相关代谢物的名称，可以跳转到相关代谢物的信息页面。
文献列表
- Huma Rizwan, Sonu Kumar, Golden Kumari, Arttatrana Pal. High glucose-induced increasing reactive nitrogen species accumulation triggered mitochondrial dysfunction, inflammation, and apoptosis in keratinocytes.
Life sciences.
2023 Jan; 312(?):121208. doi:
10.1016/j.lfs.2022.121208. [PMID: 36427546] - Adam Pietrobon, Julien Yockell-Lelièvre, Trevor A Flood, William L Stanford. Renal organoid modeling of tuberous sclerosis complex reveals lesion features arise from diverse developmental processes.
Cell reports.
2022 07; 40(1):111048. doi:
10.1016/j.celrep.2022.111048. [PMID: 35793620] - Shunlai Shang, Yan Mei, Tao Wang, Xinyi Zheng, Keng Chen, Shishi Xiong, Yu Dong, Yuanyuan Chang, Xiaoyuan Wu, Xiangdong Kong, Mei Tan, Li Wu, Yingjie Zhang, Yunming Xiao, Yuansheng Xie, Guangyan Cai, Xiangmei Chen, Qinggang Li. Diagnosis and genotype-phenotype correlation in patients with PKD1/TSC2 contiguous gene deletion syndrome.
Clinical nephrology.
2022 Jun; 97(6):328-338. doi:
10.5414/cn110476. [PMID: 35142283] - Bruno Guedes Baldi, Elzbieta Radzikowska, Vincent Cottin, Daniel F Dilling, Ali Ataya, Carlos Roberto Ribeiro Carvalho, Sergio Harari, Matthew Koslow, Jan C Grutters, Yoshikazu Inoue, Nishant Gupta, Simon R Johnson. COVID-19 in Lymphangioleiomyomatosis: An International Study of Outcomes and Impact of Mechanistic Target of Rapamycin Inhibition.
Chest.
2022 06; 161(6):1589-1593. doi:
10.1016/j.chest.2021.12.640. [PMID: 34942174] - Hui-Zhi Zhang, Qiu-Yuan Xia, Shu-Yan Wang, Meng-Jie Shi, Su-Ying Wang. Low-grade oncocytic tumor of kidney harboring TSC/MTOR mutation: clinicopathologic, immunohistochemical and molecular characteristics support a distinct entity.
Virchows Archiv : an international journal of pathology.
2022 May; 480(5):999-1008. doi:
10.1007/s00428-022-03283-x. [PMID: 35099634] - Jessica Robinson, Orhan Uzun, Ne Ron Loh, Isabelle Rose Harris, Thomas E Woolley, Adrian J Harwood, Jennifer Frances Gardner, Yasir Ahmed Syed. The association of neurodevelopmental abnormalities, congenital heart and renal defects in a tuberous sclerosis complex patient cohort.
BMC medicine.
2022 04; 20(1):123. doi:
10.1186/s12916-022-02325-0. [PMID: 35440050] - Ryan M Powell, Sharon Pattison, Jiri C Moravec, Basharat Bhat, Nada Guirguis, David Markie, Greg T Jones, Jason Copedo, Cristin G Print, Ian M Morison, Alex Gavryushkin, Bronwyn Gray, Lisa J Wyeth, Mike R Eccles, Erin C Macaulay. Tuberous sclerosis complex: a complex case.
Cold Spring Harbor molecular case studies.
2022 04; 8(3):. doi:
10.1101/mcs.a006182. [PMID: 35483879] - Sounak Gupta, Christine M Lohse, Ross Rowsey, Michael R McCarthy, Wei Shen, Loren Herrera-Hernandez, Stephen A Boorjian, R Houston Thompson, Rafael E Jimenez, Bradley C Leibovich, John C Cheville. Renal Neoplasia in Polycystic Kidney Disease: An Assessment of Tuberous Sclerosis Complex-associated Renal Neoplasia and PKD1/TSC2 Contiguous Gene Deletion Syndrome.
European urology.
2022 03; 81(3):229-233. doi:
10.1016/j.eururo.2021.11.013. [PMID: 34876325] - Urvi Nikhil Shroff, Georgina Gyarmati, Audrey Izuhara, Sachin Deepak, János Peti-Peterdi. A new view of macula densa cell protein synthesis.
American journal of physiology. Renal physiology.
2021 12; 321(6):F689-F704. doi:
10.1152/ajprenal.00222.2021. [PMID: 34693742] - J O R Hernandez, X Wang, M Vazquez-Segoviano, M Lopez-Marfil, M F Sobral-Reyes, A Moran-Horowich, M Sundberg, D O Lopez-Cantu, C K Probst, G U Ruiz-Esparza, K Giannikou, R Abdi, E P Henske, D J Kwiatkowski, M Sahin, D R Lemos. A tissue-bioengineering strategy for modeling rare human kidney diseases in vivo.
Nature communications.
2021 11; 12(1):6496. doi:
10.1038/s41467-021-26596-y. [PMID: 34764250] - Chao Li, Lin Lin, Lei Zhang, Ran Xu, Xiaoqing Chen, Jingkang Ji, Yunlun Li. Long noncoding RNA p21 enhances autophagy to alleviate endothelial progenitor cells damage and promote endothelial repair in hypertension through SESN2/AMPK/TSC2 pathway.
Pharmacological research.
2021 11; 173(?):105920. doi:
10.1016/j.phrs.2021.105920. [PMID: 34601081] - Elizabeth P Henske, Kristine M Cornejo, Chin-Lee Wu. Renal Cell Carcinoma in Tuberous Sclerosis Complex.
Genes.
2021 10; 12(10):. doi:
10.3390/genes12101585. [PMID: 34680979] - Ying Wang, Chunjia Li, Yanzhuo Zhang, Xiaojun Zha, Hongbing Zhang, Zhongdong Hu, Chengai Wu. Aberrant mTOR/autophagy/Nurr1 signaling is critical for TSC-associated tumor development.
Biochemistry and cell biology = Biochimie et biologie cellulaire.
2021 10; 99(5):570-577. doi:
10.1139/bcb-2021-0017. [PMID: 34463540] - Meenakshi Kamboj, Gurudutt Gupta, Sunil Pasricha, Sudhir Rawal, Anila Sharma, Garima Durga, Anurag Mehta. Eosinophilic solid and cystic renal cell carcinoma: A rare under-recognized indolent entity.
Indian journal of pathology & microbiology.
2021 Oct; 64(4):799-801. doi:
10.4103/ijpm.ijpm_938_20. [PMID: 34673608] - Ji Wang, Harilaos Filippakis, Thomas Hougard, Heng Du, Chenyang Ye, Heng-Jia Liu, Long Zhang, Khadijah Hindi, Shefali Bagwe, Julie Nijmeh, John M Asara, Wei Shi, Souheil El-Chemaly, Elizabeth P Henske, Hilaire C Lam. Interleukin-6 mediates PSAT1 expression and serine metabolism in TSC2-deficient cells.
Proceedings of the National Academy of Sciences of the United States of America.
2021 09; 118(39):. doi:
10.1073/pnas.2101268118. [PMID: 34544857] - Erzsebet Kovesdi, Reka Ripszam, Etelka Postyeni, Emese Beatrix Horvath, Anna Kelemen, Beata Fabos, Viktor Farkas, Kinga Hadzsiev, Katalin Sumegi, Lili Magyari, Pilar Guatibonza Moreno, Peter Bauer, Bela Melegh. Whole Exome Sequencing in a Series of Patients with a Clinical Diagnosis of Tuberous Sclerosis Not Confirmed by Targeted TSC1/TSC2 Sequencing.
Genes.
2021 09; 12(9):. doi:
10.3390/genes12091401. [PMID: 34573383] - Melissa Y Tjota, Pankhuri Wanjari, Jeremy Segal, Tatjana Antic. TSC/MTOR-mutated eosinophilic renal tumors are a distinct entity that is CK7+/CK20-/vimentin-: a validation study.
Human pathology.
2021 09; 115(?):84-95. doi:
10.1016/j.humpath.2020.12.006. [PMID: 33352195] - Kosmas Kosmas, Harilaos Filippakis, Damir Khabibullin, Michal Turkiewicz, Hilaire C Lam, Jane Yu, Nancy L Kedersha, Paul J Anderson, Elizabeth P Henske. TSC2 Interacts with HDLBP/Vigilin and Regulates Stress Granule Formation.
Molecular cancer research : MCR.
2021 08; 19(8):1389-1397. doi:
10.1158/1541-7786.mcr-20-1046. [PMID: 33888601] - Nicola Alesi, Elie W Akl, Damir Khabibullin, Heng-Jia Liu, Anna S Nidhiry, Emma R Garner, Harilaos Filippakis, Hilaire C Lam, Wei Shi, Srinivas R Viswanathan, Manrico Morroni, Shawn M Ferguson, Elizabeth P Henske. TSC2 regulates lysosome biogenesis via a non-canonical RAGC and TFEB-dependent mechanism.
Nature communications.
2021 07; 12(1):4245. doi:
10.1038/s41467-021-24499-6. [PMID: 34253722] - Amali C Mallawaarachchi, Ben Lundie, Yvonne Hort, Nicole Schonrock, Sarah R Senum, Velimir Gayevskiy, Andre E Minoche, Georgina Hollway, Thomas Ohnesorg, Marcus Hinchcliffe, Chirag Patel, Michel Tchan, Andrew Mallett, Marcel E Dinger, Gopala Rangan, Mark J Cowley, Peter C Harris, Leslie Burnett, John Shine, Timothy J Furlong. Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing.
European journal of human genetics : EJHG.
2021 05; 29(5):760-770. doi:
10.1038/s41431-020-00796-4. [PMID: 33437033] - Sitai Liang, Bijaya K Nayak, Kristine S Vogel, Samy L Habib. TP63 Is Significantly Upregulated in Diabetic Kidney.
International journal of molecular sciences.
2021 Apr; 22(8):. doi:
10.3390/ijms22084070. [PMID: 33920782] - Andrii Kovalenko, Andres Sanin, Kosmas Kosmas, Long Zhang, Ji Wang, Elie W Akl, Krinio Giannikou, Clemens K Probst, Thomas R Hougard, Ryan W Rue, Vera P Krymskaya, John M Asara, Hilaire C Lam, David J Kwiatkowski, Elizabeth P Henske, Harilaos Filippakis. Therapeutic Targeting of DGKA-Mediated Macropinocytosis Leads to Phospholipid Reprogramming in Tuberous Sclerosis Complex.
Cancer research.
2021 04; 81(8):2086-2100. doi:
10.1158/0008-5472.can-20-2218. [PMID: 33593821] - Jian Li, Shunlai Shang, Tao Wang, Bo Fu, Peng Wang, Guangyan Cai, Xiangmei Chen, Qinggang Li. Generation of iPSC from peripheral blood mononuclear cells obtained from a patient with TSC2-PKD1 contiguous gene deletion syndrome.
Stem cell research.
2021 03; 51(?):102181. doi:
10.1016/j.scr.2021.102181. [PMID: 33485185] - D Theegarten, T Hager. [Pulmonary lymphangioleiomyomatosis (LAM)].
Der Pathologe.
2021 Feb; 42(1):35-39. doi:
10.1007/s00292-020-00901-w. [PMID: 33420570] - Wenjun Wang, Jianshuang Li, Junyang Tan, Miaomiao Wang, Jing Yang, Zhi-Min Zhang, Chuanzhou Li, Alexei G Basnakian, Hong-Wen Tang, Norbert Perrimon, Qinghua Zhou. Endonuclease G promotes autophagy by suppressing mTOR signaling and activating the DNA damage response.
Nature communications.
2021 01; 12(1):476. doi:
10.1038/s41467-020-20780-2. [PMID: 33473107] - Jianling Xie, Kaikai Shen, Ashley T Jones, Jian Yang, Andrew R Tee, Ming Hong Shen, Mengyuan Yu, Swati Irani, Derick Wong, James E Merrett, Roman V Lenchine, Stuart De Poi, Kirk B Jensen, Paul J Trim, Marten F Snel, Makoto Kamei, Sally Kim Martin, Stephen Fitter, Shuye Tian, Xuemin Wang, Lisa M Butler, Andrew C W Zannettino, Christopher G Proud. Reciprocal signaling between mTORC1 and MNK2 controls cell growth and oncogenesis.
Cellular and molecular life sciences : CMLS.
2021 Jan; 78(1):249-270. doi:
10.1007/s00018-020-03491-1. [PMID: 32170339] - Yilong Lin, Wanna Xiong, Simeng Xiao, Fang Li, Zhuo Lu, Jiongyi Yan, Xuewan Fang, Xiaojuan Cui, Yilei Wen, Jianqin Liang, Kai Yu. Pharmacoproteomics reveals the mechanism of Chinese dragon's blood in regulating the RSK/TSC2/mTOR/ribosome pathway in alleviation of DSS-induced acute ulcerative colitis.
Journal of ethnopharmacology.
2020 Dec; 263(?):113221. doi:
10.1016/j.jep.2020.113221. [PMID: 32783984] - Juan María Roldan-Romero, María Santos, Javier Lanillos, Eduardo Caleiras, Georgia Anguera, Pablo Maroto, Jesús García-Donas, Guillermo de Velasco, Ángel Mario Martinez-Montes, Bruna Calsina, María Monteagudo, Rocío Letón, Luis Javier Leandro-García, Cristina Montero-Conde, Alberto Cascón, Mercedes Robledo, Cristina Rodriguez-Antona. Molecular characterization of chromophobe renal cell carcinoma reveals mTOR pathway alterations in patients with poor outcome.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc.
2020 12; 33(12):2580-2590. doi:
10.1038/s41379-020-0607-z. [PMID: 32616874] - Larissa Brussa Reis, Daniele Konzen, Cristina Brinckmann Oliveira Netto, Pedro Moacir Braghirolli Braghini, Gabriel Prolla, Patricia Ashton-Prolla. Tuberous Sclerosis Complex with rare associated findings in the gastrointestinal system: a case report and review of the literature.
BMC gastroenterology.
2020 Nov; 20(1):394. doi:
10.1186/s12876-020-01481-y. [PMID: 33225890] - Abhishek Shah, Priti Lal, Erik Toorens, Matthew B Palmer, Lauren Schwartz, Norge Vergara, Thomas Guzzo, Anupma Nayak. Acquired Cystic Kidney Disease-associated Renal Cell Carcinoma (ACKD-RCC) Harbor Recurrent Mutations in KMT2C and TSC2 Genes.
The American journal of surgical pathology.
2020 11; 44(11):1479-1486. doi:
10.1097/pas.0000000000001530. [PMID: 32604168] - Daphna Marom. Genetics of tuberous sclerosis complex: an update.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery.
2020 10; 36(10):2489-2496. doi:
10.1007/s00381-020-04726-z. [PMID: 32761379] - Shunzhi He, Na Lv, Hongchu Bao, Xiong Wang, Jing Li. A novel TSC2 c.4511 T > C missense variant associated with tuberous sclerosis complex.
BMC medical genetics.
2020 09; 21(1):180. doi:
10.1186/s12881-020-01120-z. [PMID: 32917147] - Gennaro Napolitano, Chiara Di Malta, Alessandra Esposito, Mariana E G de Araujo, Salvatore Pece, Giovanni Bertalot, Maria Matarese, Valerio Benedetti, Angela Zampelli, Taras Stasyk, Diletta Siciliano, Alessandro Venuta, Marcella Cesana, Claudia Vilardo, Edoardo Nusco, Jlenia Monfregola, Alessia Calcagnì, Pier Paolo Di Fiore, Lukas A Huber, Andrea Ballabio. A substrate-specific mTORC1 pathway underlies Birt-Hogg-Dubé syndrome.
Nature.
2020 09; 585(7826):597-602. doi:
10.1038/s41586-020-2444-0. [PMID: 32612235] - Patrick Hansmann, Anne Brückner, Stephan Kiontke, Bianca Berkenfeld, Guiscard Seebohm, Pascal Brouillard, Miikka Vikkula, Floor E Jansen, Mark Nellist, Andrea Oeckinghaus, Daniel Kümmel. Structure of the TSC2 GAP Domain: Mechanistic Insight into Catalysis and Pathogenic Mutations.
Structure (London, England : 1993).
2020 08; 28(8):933-942.e4. doi:
10.1016/j.str.2020.05.008. [PMID: 32502382] - T Bardawil, L El Jamal, O Abbas, M Kurban. Tuberous sclerosis with two unusual findings: cutaneous rhabdomyoma and chronic myelogenous leukaemia.
Clinical and experimental dermatology.
2020 Aug; 45(6):799-801. doi:
10.1111/ced.14187. [PMID: 32097503] - Meng-Si Luo, Guan-Jiang Huang, Hong-Bing Liu. An autophagy-related model of 4 key genes for predicting prognosis of patients with laryngeal cancer.
Medicine.
2020 Jul; 99(30):e21163. doi:
10.1097/md.0000000000021163. [PMID: 32791689] - W P Yang, K T E Chang, H Y Xu, C H Kuick, E H Q Ng, H Huang, F Xiong, Y Wu, S T Zeng, J X Fan, X Y Loh. [Eosinophilic solid and cystic renal cell carcinoma with TSC2 gene mutations in children].
Zhonghua bing li xue za zhi = Chinese journal of pathology.
2020 Jul; 49(7):693-698. doi:
10.3760/cma.j.cn112151-20191217-00807. [PMID: 32610380] - Melissa Tjota, Heather Chen, Megan Parilla, Pankhuri Wanjari, Jeremy Segal, Tatjana Antic. Eosinophilic Renal Cell Tumors With a TSC and MTOR Gene Mutations Are Morphologically and Immunohistochemically Heterogenous: Clinicopathologic and Molecular Study.
The American journal of surgical pathology.
2020 07; 44(7):943-954. doi:
10.1097/pas.0000000000001457. [PMID: 32091432] - You Feng, William J Mischler, Ashish C Gurung, Taylor R Kavanagh, Grigoriy Androsov, Peter M Sadow, Zachary T Herbert, Carmen Priolo. Therapeutic Targeting of the Secreted Lysophospholipase D Autotaxin Suppresses Tuberous Sclerosis Complex-Associated Tumorigenesis.
Cancer research.
2020 07; 80(13):2751-2763. doi:
10.1158/0008-5472.can-19-2884. [PMID: 32393662] - Thomas Rosengren, Santoesha Nanhoe, Luis Gustavo Dufner de Almeida, Bitten Schönewolf-Greulich, Lasse Jonsgaard Larsen, Caroline Amalie Brunbjerg Hey, Morten Dunø, Jakob Ek, Lotte Risom, Mark Nellist, Lisbeth Birk Møller. Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex.
Scientific reports.
2020 06; 10(1):9909. doi:
10.1038/s41598-020-66588-4. [PMID: 32555378] - Fei Han, Emilia R Dellacecca, Levi W Barse, Cormac Cosgrove, Steven W Henning, Christian M Ankney, Dinesh Jaishankar, Alexander Yemelyanov, Vera P Krymskaya, Daniel F Dilling, I Caroline Le Poole. Adoptive T-Cell Transfer to Treat Lymphangioleiomyomatosis.
American journal of respiratory cell and molecular biology.
2020 06; 62(6):793-804. doi:
10.1165/rcmb.2019-0117oc. [PMID: 32078336] - Rajal B Shah, Bradley A Stohr, Zheng Jin Tu, Yuan Gao, Christopher G Przybycin, Jane Nguyen, Roni M Cox, Fariborz Rashid-Kolvear, Michael D Weindel, Daniel H Farkas, Kiril Trpkov, Jesse K McKenney. "Renal Cell Carcinoma With Leiomyomatous Stroma" Harbor Somatic Mutations of TSC1, TSC2, MTOR, and/or ELOC (TCEB1): Clinicopathologic and Molecular Characterization of 18 Sporadic Tumors Supports a Distinct Entity.
The American journal of surgical pathology.
2020 05; 44(5):571-581. doi:
10.1097/pas.0000000000001422. [PMID: 31850909] - Masashi Idogawa, Tokimasa Hida, Toshiaki Tanaka, Noriaki Ohira, Shoichiro Tange, Yasushi Sasaki, Hisashi Uhara, Naoya Masumori, Takashi Tokino, Hiroshi Natori. Renal angiomyolipoma (AML) harboring a missense mutation of TSC2 with copy-neutral loss of heterozygosity (CN-LOH).
Cancer biology & therapy.
2020 04; 21(4):315-319. doi:
10.1080/15384047.2019.1702406. [PMID: 31847710] - Tatsuya Inoue, Toshiaki Kokubo, Kazuhiro Daino, Hiromi Yanagihara, Fumiko Watanabe, Chizuru Tsuruoka, Yoshiko Amasaki, Takamitsu Morioka, Shino Homma-Takeda, Toshiyuki Kobayashi, Okio Hino, Yoshiya Shimada, Shizuko Kakinuma. Interstitial chromosomal deletion of the tuberous sclerosis complex 2 locus is a signature for radiation-associated renal tumors in Eker rats.
Cancer science.
2020 Mar; 111(3):840-848. doi:
10.1111/cas.14307. [PMID: 31925975] - Juan M Roldan-Romero, Benoit Beuselinck, María Santos, Juan F Rodriguez-Moreno, Javier Lanillos, Bruna Calsina, Ana Gutierrez, Karin Tang, Nuria Lainez, Javier Puente, Daniel Castellano, Emilio Esteban, Miguel A Climent, Jose A Arranz, Maarten Albersen, Stephane Oudard, Gabrielle Couchy, Eduardo Caleiras, Cristina Montero-Conde, Alberto Cascón, Mercedes Robledo, Cristina Rodríguez-Antona, Jesús García-Donas. PTEN expression and mutations in TSC1, TSC2 and MTOR are associated with response to rapalogs in patients with renal cell carcinoma.
International journal of cancer.
2020 03; 146(5):1435-1444. doi:
10.1002/ijc.32579. [PMID: 31335987] - Wang Jiangyi, Guo Gang, Shi Guohai, Ye Dingwei. Germline mutation of TSC1 or TSC2 gene in Chinese patients with bilateral renal angiomyolipomas and mutation spectrum of Chinese TSC patients.
Aging.
2020 01; 12(1):756-766. doi:
10.18632/aging.102654. [PMID: 31927531] - Steven D Klein, Julian A Martinez-Agosto. Hotspot Mutations in DICER1 Causing GLOW Syndrome-Associated Macrocephaly via Modulation of Specific microRNA Populations Result in the Activation of PI3K/ATK/mTOR Signaling.
MicroRNA (Shariqah, United Arab Emirates).
2020; 9(1):70-80. doi:
10.2174/2211536608666190624114424. [PMID: 31232238] - Tao Wang, Shunqiang Xie, Rongtuan Luo, Lianguo Shi, Peide Bai, Xuegang Wang, Rui Wan, Jiang Deng, Zhun Wu, Wei Li, Wen Xiao, Yongfeng Wang, Bin Chen, Kaiyan Zhang, Jinchun Xing. Two novel TSC2 mutations in renal epithelioid angiomyolipoma sensitive to everolimus.
Cancer biology & therapy.
2020; 21(1):4-11. doi:
10.1080/15384047.2019.1665955. [PMID: 31597506] - Miriam E Reyna-Fabián, Miguel A Alcántara-Ortigoza, Nancy L Hernández-Martínez, Jaime Berumen, Raquel Jiménez-García, Gilberto Gómez-Garza, Ariadna González-Del Angel. TSC2/PKD1 contiguous gene syndrome, with emphasis on a case with an atypical mild polycystic kidney phenotype and a novel genetic variant.
Nefrologia.
2020 Jan; 40(1):91-98. doi:
10.1016/j.nefro.2019.03.003. [PMID: 31176519] - Wakiko Iwata, Hiroyuki Unoki-Kubota, Hideki Kato, Akira Shimizu, Michihiro Matsumoto, Toshiyuki Imasawa, Arisa Igarashi, Kenji Matsumoto, Tetsuo Noda, Yasuo Terauchi, Masaomi Nangaku, Masato Kasuga, Yasushi Kaburagi. Podocyte-specific deletion of tubular sclerosis complex 2 promotes focal segmental glomerulosclerosis and progressive renal failure.
PloS one.
2020; 15(3):e0229397. doi:
10.1371/journal.pone.0229397. [PMID: 32191726] - Heng-Jia Liu, Hilaire C Lam, Christian V Baglini, Julie Nijmeh, Alischer A Cottrill, Stephen Y Chan, Elizabeth P Henske. Rapamycin-upregulated miR-29b promotes mTORC1-hyperactive cell growth in TSC2-deficient cells by downregulating tumor suppressor retinoic acid receptor β (RARβ).
Oncogene.
2019 12; 38(49):7367-7383. doi:
10.1038/s41388-019-0957-5. [PMID: 31420607] - Yan Tang, Souheil El-Chemaly, Angelo Taveira-Dasilva, Hilary J Goldberg, Shefali Bagwe, Ivan O Rosas, Joel Moss, Carmen Priolo, Elizabeth P Henske. Alterations in Polyamine Metabolism in Patients With Lymphangioleiomyomatosis and Tuberous Sclerosis Complex 2-Deficient Cells.
Chest.
2019 12; 156(6):1137-1148. doi:
10.1016/j.chest.2019.05.038. [PMID: 31299246] - Krinio Giannikou, Kathryn D Lasseter, Joannes M Grevelink, Magdalena E Tyburczy, Kira A Dies, Zachary Zhu, Lana Hamieh, Bruce M Wollison, Aaron R Thorner, Stephen J Ruoss, Elizabeth A Thiele, Mustafa Sahin, David J Kwiatkowski. Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission.
Genetics in medicine : official journal of the American College of Medical Genetics.
2019 11; 21(11):2639-2643. doi:
10.1038/s41436-019-0562-6. [PMID: 31160751] - Fahad A Al-Muhanna, Abdullah M Al-Rubaish, Chittibabu Vatte, Shamim Shaikh Mohiuddin, Cyril Cyrus, Arafat Ahmad, Mohammed Shakil Akhtar, Mohammad Ahmad Albezra, Rudaynah A Alali, Afnan F Almuhanna, Kai Huang, Lusheng Wang, Feras Al-Kuwaiti, Tamer S Ahmed Elsalamouni, Abdullah Al Hwiesh, Xiaoyan Huang, Brendan Keating, Jiankang Li, Matthew B Lanktree, Amein K Al-Ali. Exome sequencing of Saudi Arabian patients with ADPKD.
Renal failure.
2019 Nov; 41(1):842-849. doi:
10.1080/0886022x.2019.1655453. [PMID: 31488014] - Jian Pang, Linang Wang, Jing Xu, Qiubo Xie, Qiuli Liu, Dali Tong, Gaolei Liu, Yiqiang Huang, Xingxia Yang, Jinhong Pan, Xiaochu Yan, Qiang Ma, Dianzheng Zhang, Jun Jiang. A Renal Cell Carcinoma with Biallelic Somatic TSC2 Mutation: Clinical Study and Literature Review.
Urology.
2019 Nov; 133(?):96-102. doi:
10.1016/j.urology.2019.08.016. [PMID: 31454656] - Leslie S Gewin, Megan E Summers, Julie W Harral, Christa F Gaskill, Stellor Nlandu Khodo, Surekha Neelisetty, Timothy M Sullivan, Katharina Hopp, J Jeffrey Reese, Dwight J Klemm, Valentina Kon, Kevin C Ess, Wei Shi, Susan M Majka. Inactivation of Tsc2 in Abcg2 lineage-derived cells drives the appearance of polycystic lesions and fibrosis in the adult kidney.
American journal of physiology. Renal physiology.
2019 11; 317(5):F1201-F1210. doi:
10.1152/ajprenal.00629.2018. [PMID: 31461347] - Shide Zhang, Zhanxiang Wang, Rong Lin, Jingjun Zhao. [Genetic analysis of a pedigree affected with tuberous sclerosis complex caused by a novel mutation of TSC1].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.
2019 Oct; 36(10):961-964. doi:
10.3760/cma.j.issn.1003-9406.2019.10.003. [PMID: 31598936] - Barbara Ogórek, Lana Hamieh, Kathryn Lasseter, Shefali Bagwe, Tania Machado, Carmen Herranz-Ors, Aaron R Thorner, Anwesha Nag, Peter Gulleman, Krinio Giannikou, Lisa R Young, Miquel Àngel Pujana, Thomas N Darling, Souheil El-Chemaly, Joel Moss, Elizabeth P Henske, David J Kwiatkowski. Generalised mosaicism for TSC2 mutation in isolated lymphangioleiomyomatosis.
The European respiratory journal.
2019 10; 54(4):. doi:
10.1183/13993003.00938-2019. [PMID: 31273045] - Benjamin Becker, Roy E Strowd. Phakomatoses.
Dermatologic clinics.
2019 Oct; 37(4):583-606. doi:
10.1016/j.det.2019.05.015. [PMID: 31466597] - Chunjia Li, Hongyu Chen, Zhou Lan, Shaozong He, Rongrong Chen, Fang Wang, Zhibo Liu, Kai Li, Lili Cheng, Ye Liu, Kun Sun, Xiaofeng Wan, Xinxin Chen, Haiyong Peng, Li Li, Yanjun Zhang, Yanling Jing, Min Huang, Yanan Wang, Yan Wang, Jiandong Jiang, Xiaojun Zha, Ligong Chen, Hongbing Zhang. mTOR-dependent upregulation of xCT blocks melanin synthesis and promotes tumorigenesis.
Cell death and differentiation.
2019 Oct; 26(10):2015-2028. doi:
10.1038/s41418-019-0274-0. [PMID: 30760873] - Ekanem N Ekure, Yonit A Addissie, Ogochukwu Jidechukwu Sokunbi, Paul Kruszka, Maximilian Muenke, Adebowale A Adeyemo. Tuberous sclerosis in a patient from Nigeria.
American journal of medical genetics. Part A.
2019 08; 179(8):1423-1425. doi:
10.1002/ajmg.a.61194. [PMID: 31140686] - Ashley T Jones, Jian Yang, Kalin Narov, Elizabeth P Henske, Julian R Sampson, Ming Hong Shen. Allosteric and ATP-Competitive Inhibitors of mTOR Effectively Suppress Tumor Progression-Associated Epithelial-Mesenchymal Transition in the Kidneys of Tsc2+/- Mice.
Neoplasia (New York, N.Y.).
2019 08; 21(8):731-739. doi:
10.1016/j.neo.2019.05.003. [PMID: 31207499] - Sureshkumar M A, Caroline R Delma, Krishnan Manickam, Sumathy Mohan, Samy L Habib, Mohan Natarajan. Heterozygous Tsc2 (Tsc2+/-) mouse model to study induced renal cancer in response to ionizing radiation at low doses.
Carcinogenesis.
2019 07; 40(6):782-790. doi:
10.1093/carcin/bgy172. [PMID: 30508035] - Linu A Jacob, Gowhar Shafi. TSC1/2 mutations as markers of response to everolimus in metastatic renal cell carcinoma: A case study.
Indian journal of cancer.
2019 Jul; 56(3):274-275. doi:
10.4103/ijc.ijc_732_18. [PMID: 31389395] - Heinke Bastek, Tabea Zubel, Kerstin Stemmer, Aswin Mangerich, Sascha Beneke, Daniel R Dietrich. Comparison of Aristolochic acid I derived DNA adduct levels in human renal toxicity models.
Toxicology.
2019 05; 420(?):29-38. doi:
10.1016/j.tox.2019.03.013. [PMID: 30940547] - Bernt Popp, Abbas Agaimy, Cornelia Kraus, Karl X Knaup, Arif B Ekici, Steffen Uebe, André Reis, Michael Wiesener, Christiane Zweier. Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disability.
BMC cancer.
2019 May; 19(1):435. doi:
10.1186/s12885-019-5633-1. [PMID: 31077186] - Xuncan Liu, Yanfeng Zhang, Yunpeng Hao, Yinbo Chen, Chen Chen. Tuberous sclerosis complex presenting as convulsive status epilepticus followed by hypoxic cerebropathy: A case report.
Medicine.
2019 May; 98(19):e15545. doi:
10.1097/md.0000000000015545. [PMID: 31083211] - Sung Han Kim, Weon Seo Park, Jinsoo Chung. SETD2, GIGYF2, FGFR3, BCR, KMT2C, and TSC2 as candidate genes for differentiating multilocular cystic renal neoplasm of low malignant potential from clear cell renal cell carcinoma with cystic change.
Investigative and clinical urology.
2019 05; 60(3):148-155. doi:
10.4111/icu.2019.60.3.148. [PMID: 31098421] - Junlong Wu, Hongkai Wang, Christopher J Ricketts, Youfeng Yang, Maria J Merino, Hailiang Zhang, Guohai Shi, Hualei Gan, W Marston Linehan, Yao Zhu, Dingwei Ye. Germline mutations of renal cancer predisposition genes and clinical relevance in Chinese patients with sporadic, early-onset disease.
Cancer.
2019 04; 125(7):1060-1069. doi:
10.1002/cncr.31908. [PMID: 30548481] - Anthony M Lamattina, Sergio Poli, Pranav Kidambi, Shefali Bagwe, Andrew Courtwright, Pierce H Louis, Shikshya Shrestha, Benjamin Stump, Hilary J Goldberg, Elizabeth A Thiele, Ivan Rosas, Elizabeth P Henske, Souheil El-Chemaly. Serum endostatin levels are associated with diffusion capacity and with tuberous sclerosis- associated lymphangioleiomyomatosis.
Orphanet journal of rare diseases.
2019 03; 14(1):72. doi:
10.1186/s13023-019-1050-4. [PMID: 30922357] - Chu-Jen Kuo, Chi-Chen Huang, Szu-Yi Chou, Yu-Chun Lo, Tzu-Jen Kao, Nai-Kuei Huang, Connie Lin, Hsin-Chuan Lin, Hui-Ching Lin, Yi-Chao Lee. Potential therapeutic effect of curcumin, a natural mTOR inhibitor, in tuberous sclerosis complex.
Phytomedicine : international journal of phytotherapy and phytopharmacology.
2019 Feb; 54(?):132-139. doi:
10.1016/j.phymed.2018.09.203. [PMID: 30668362] - Takeshi Kondo, Yo Niida, Masashi Mizuguchi, Yasushi Nagasaki, Yasuhiro Ueno, Akiyoshi Nishimura. Autopsy case of right ventricular rhabdomyoma in tuberous sclerosis complex.
Legal medicine (Tokyo, Japan).
2019 Feb; 36(?):37-40. doi:
10.1016/j.legalmed.2018.10.001. [PMID: 30336374] - Ashley T Jones, Kalin Narov, Jian Yang, Julian R Sampson, Ming Hong Shen. Efficacy of Dual Inhibition of Glycolysis and Glutaminolysis for Therapy of Renal Lesions in Tsc2+/- Mice.
Neoplasia (New York, N.Y.).
2019 02; 21(2):230-238. doi:
10.1016/j.neo.2018.12.003. [PMID: 30622053] - Martin H Voss, David Chen, Albert Reising, Mahtab Marker, Jiayuan Shi, Jianning Xu, Irina Ostrovnaya, Venkatraman E Seshan, Almedina Redzematovic, Ying-Bei Chen, Parul Patel, Xia Han, James J Hsieh, A Ari Hakimi, Robert J Motzer. PTEN Expression, Not Mutation Status in TSC1, TSC2, or mTOR, Correlates with the Outcome on Everolimus in Patients with Renal Cell Carcinoma Treated on the Randomized RECORD-3 Trial.
Clinical cancer research : an official journal of the American Association for Cancer Research.
2019 01; 25(2):506-514. doi:
10.1158/1078-0432.ccr-18-1833. [PMID: 30327302] - Yu-Jing Huang, Zong-Pei Jiang, Yu-Ping Chen, Jin-Quan Wu, Jia-Li Huang, Yan-Qiang Chen, Meng-Jun Liang. Malignancy of renal angiomyolipoma from tuberous sclerosis complex with TSC2 mutation.
Chinese medical journal.
2019 Jan; 132(1):103-105. doi:
10.1097/cm9.0000000000000026. [PMID: 30628968] - G Chen, Q R Dong, M X Li, X M Li. [The 467th case: proteinuria, periungual fibromas, and facial steatadenomas].
Zhonghua nei ke za zhi.
2019 Jan; 58(1):74-77. doi:
10.3760/cma.j.issn.0578-1426.2019.01.014. [PMID: 30605956] - Elizabeth Fidalgo da Silva, Sabrina Botsford, Jessica Dare-Shih, Miranda A Hanna, Lisa A Porter. The Tuberin and Cyclin B1 complex functions as a novel G2/M sensor of serum conditions and Akt signaling.
PloS one.
2019; 14(1):e0210612. doi:
10.1371/journal.pone.0210612. [PMID: 30629673] - Bruna Calsina, Luis Jaime Castro-Vega, Rafael Torres-Pérez, Lucía Inglada-Pérez, Maria Currás-Freixes, Juan María Roldán-Romero, Veronika Mancikova, Rocío Letón, Laura Remacha, María Santos, Nelly Burnichon, Charlotte Lussey-Lepoutre, Elena Rapizzi, Osvaldo Graña, Cristina Álvarez-Escolá, Aguirre A de Cubas, Javier Lanillos, Alfonso Cordero-Barreal, Ángel M Martínez-Montes, Alexandre Bellucci, Laurence Amar, Fabio Luiz Fernandes-Rosa, María Calatayud, Javier Aller, Cristina Lamas, Júlia Sastre-Marcos, Letizia Canu, Esther Korpershoek, Henri J Timmers, Jacques Wm Lenders, Felix Beuschlein, Martin Fassnacht-Capeller, Graeme Eisenhofer, Massimo Mannelli, Fátima Al-Shahrour, Judith Favier, Cristina Rodríguez-Antona, Alberto Cascón, Cristina Montero-Conde, Anne-Paule Gimenez-Roqueplo, Mercedes Robledo. Integrative multi-omics analysis identifies a prognostic miRNA signature and a targetable miR-21-3p/TSC2/mTOR axis in metastatic pheochromocytoma/paraganglioma.
Theranostics.
2019; 9(17):4946-4958. doi:
10.7150/thno.35458. [PMID: 31410193] - Ying-Bei Chen, Leili Mirsadraei, Gowtham Jayakumaran, Hikmat A Al-Ahmadie, Samson W Fine, Anuradha Gopalan, S Joseph Sirintrapun, Satish K Tickoo, Victor E Reuter. Somatic Mutations of TSC2 or MTOR Characterize a Morphologically Distinct Subset of Sporadic Renal Cell Carcinoma With Eosinophilic and Vacuolated Cytoplasm.
The American journal of surgical pathology.
2019 01; 43(1):121-131. doi:
10.1097/pas.0000000000001170. [PMID: 30303819] - John J Bissler, Fahad Zadjali, Dave Bridges, Aristotelis Astrinidis, Sharon Barone, Ying Yao, JeAnna R Redd, Brian J Siroky, Yanqing Wang, Joel T Finley, Michael E Rusiniak, Heinz Baumann, Kamyar Zahedi, Kenneth W Gross, Manoocher Soleimani. Tuberous sclerosis complex exhibits a new renal cystogenic mechanism.
Physiological reports.
2019 01; 7(2):e13983. doi:
10.14814/phy2.13983. [PMID: 30675765] - Shuqiang Li, Yushi Zhang, Zhiyong Wang, Yanfeng Yang, Wansheng Gao, Dongsheng Li, Jinxing Wei. Genotype-phenotype correlation of patients with tuberous sclerosis complex-associated renal angiomyolipoma: a descriptive study.
Human pathology.
2018 12; 82(?):61-67. doi:
10.1016/j.humpath.2018.07.017. [PMID: 30036593] - Urmila Anandh, Gayatri Chandrasekar, Vikas Agarwal. Mammalian target of rapamycin inhibitors in a patient with polycystic kidney disease-1-tuberous sclerosis-2 contiguous gene syndrome.
Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia.
2018 Nov; 29(6):1475-1479. doi:
10.4103/1319-2442.248317. [PMID: 30588981] - Hilaire C Lam, Brian J Siroky, Elizabeth P Henske. Renal disease in tuberous sclerosis complex: pathogenesis and therapy.
Nature reviews. Nephrology.
2018 11; 14(11):704-716. doi:
10.1038/s41581-018-0059-6. [PMID: 30232410] - Rohit Mehra, Pankaj Vats, Xuhong Cao, Fengyun Su, Nicole D Lee, Robert Lonigro, Kumpati Premkumar, Kiril Trpkov, Jesse K McKenney, Saravana M Dhanasekaran, Arul M Chinnaiyan. Somatic Bi-allelic Loss of TSC Genes in Eosinophilic Solid and Cystic Renal Cell Carcinoma.
European urology.
2018 10; 74(4):483-486. doi:
10.1016/j.eururo.2018.06.007. [PMID: 29941307] - Harilaos Filippakis, Amine Belaid, Brian Siroky, Constance Wu, Nicola Alesi, Thomas Hougard, Julie Nijmeh, Hilaire C Lam, Elizabeth P Henske. Vps34-mediated macropinocytosis in Tuberous Sclerosis Complex 2-deficient cells supports tumorigenesis.
Scientific reports.
2018 09; 8(1):14161. doi:
10.1038/s41598-018-32256-x. [PMID: 30242175] - Petrus J de Vries, Elena Belousova, Mirjana P Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D'Amato, Guillaume B d'Augères, José C Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jozwiak, J Chris Kingswood, John A Lawson, Alfons Macaya, Ruben Marques, Rima Nabbout, Finbar O'Callaghan, Jiong Qin, Valentin Sander, Matthias Sauter, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, Anna C Jansen. TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study.
Orphanet journal of rare diseases.
2018 09; 13(1):157. doi:
10.1186/s13023-018-0901-8. [PMID: 30201051] - Nishant Gupta, Elizabeth P Henske. Pulmonary manifestations in tuberous sclerosis complex.
American journal of medical genetics. Part C, Seminars in medical genetics.
2018 09; 178(3):326-337. doi:
10.1002/ajmg.c.31638. [PMID: 30055039] - Doreen N Palsgrove, Yunjie Li, Christine A Pratilas, Ming-Tseh Lin, Aparna Pallavajjalla, Christopher Gocke, Angelo M De Marzo, Andres Matoso, George J Netto, Jonathan I Epstein, Pedram Argani. Eosinophilic Solid and Cystic (ESC) Renal Cell Carcinomas Harbor TSC Mutations: Molecular Analysis Supports an Expanding Clinicopathologic Spectrum.
The American journal of surgical pathology.
2018 09; 42(9):1166-1181. doi:
10.1097/pas.0000000000001111. [PMID: 29975249] - Joaquim Bellmunt, Aly-Khan A Lalani, Sussana Jacobus, Stephanie A Wankowicz, Laura Polacek, David Y Takeda, Lauren C Harshman, Nikhil Wagle, Irene Moreno, Kevin Lundgren, Dominick Bossé, Eliezer M Van Allen, Toni K Choueiri, Jonathan E Rosenberg. Everolimus and pazopanib (E/P) benefit genomically selected patients with metastatic urothelial carcinoma.
British journal of cancer.
2018 09; 119(6):707-712. doi:
10.1038/s41416-018-0261-0. [PMID: 30220708] - John J Bissler, J Christopher Kingswood. Renal manifestation of tuberous sclerosis complex.
American journal of medical genetics. Part C, Seminars in medical genetics.
2018 09; 178(3):338-347. doi:
10.1002/ajmg.c.31654. [PMID: 30307110] - Megan Parilla, Sabah Kadri, Sushant A Patil, Lauren Ritterhouse, Jeremy Segal, Kammi J Henriksen, Tatjana Antic. Are Sporadic Eosinophilic Solid and Cystic Renal Cell Carcinomas Characterized by Somatic Tuberous Sclerosis Gene Mutations?.
The American journal of surgical pathology.
2018 07; 42(7):911-917. doi:
10.1097/pas.0000000000001067. [PMID: 29668487] - Yi Cai, Wenda Wang, Hao Guo, Hanzhong Li, Yu Xiao, Yushi Zhang. miR-9-5p, miR-124-3p, and miR-132-3p regulate BCL2L11 in tuberous sclerosis complex angiomyolipoma.
Laboratory investigation; a journal of technical methods and pathology.
2018 07; 98(7):856-870. doi:
10.1038/s41374-018-0051-6. [PMID: 29540858] - M Glushkova, V Bojinova, M Koleva, P Dimova, M Bojidarova, I Litvinenko, T Todorov, E Iluca, C Calusaru, E Neagu, D Craiu, V Mitev, A Todorova. Molecular genetic diagnostics of tuberous sclerosis complex in Bulgaria: six novel mutations in the TSC1 and TSC2 genes.
Journal of genetics.
2018 Jun; 97(2):419-427. doi:
10.1007/s12041-018-0927-7. [PMID: 29932062] - Rachel Michelle Saré, Tianjian Huang, Tom Burlin, Inna Loutaev, Carolyn Beebe Smith. Decreased rates of cerebral protein synthesis measured in vivo in a mouse model of Tuberous Sclerosis Complex: unexpected consequences of reduced tuberin.
Journal of neurochemistry.
2018 06; 145(5):417-425. doi:
10.1111/jnc.14311. [PMID: 29364507] - Feng Wang, Shiyi Xiong, Lin Wu, Maya Chopra, Xihong Hu, Bingbing Wu. A novel TSC2 missense variant associated with a variable phenotype of tuberous sclerosis complex: case report of a Chinese family.
BMC medical genetics.
2018 05; 19(1):90. doi:
10.1186/s12881-018-0611-z. [PMID: 29843636] - Marta Espinosa, Juan Maria Roldán-Romero, Ignacio Duran, Enrique de Álava, María Apellaniz-Ruiz, Alberto Cascón, Carmen Garrigos, Mercedes Robledo, Cristina Rodriguez-Antona. Advanced sporadic renal epithelioid angiomyolipoma: case report of an extraordinary response to sirolimus linked to TSC2 mutation.
BMC cancer.
2018 May; 18(1):561. doi:
10.1186/s12885-018-4467-6. [PMID: 29764404] - Barbara Ogórek, Hilaire C Lam, Damir Khabibullin, Heng-Jia Liu, Julie Nijmeh, Robinson Triboulet, David J Kwiatkowski, Richard I Gregory, Elizabeth P Henske. TSC2 regulates microRNA biogenesis via mTORC1 and GSK3β.
Human molecular genetics.
2018 05; 27(9):1654-1663. doi:
10.1093/hmg/ddy073. [PMID: 29509898] - Pablo Maroto, Georgia Anguera, Juan Maria Roldan-Romero, Maria Apellániz-Ruiz, Ferran Algaba, Jacqueline Boonman, Mark Nellist, Cristina Montero-Conde, Alberto Cascón, Mercedes Robledo, Cristina Rodríguez-Antona. Biallelic TSC2 Mutations in a Patient With Chromophobe Renal Cell Carcinoma Showing Extraordinary Response to Temsirolimus.
Journal of the National Comprehensive Cancer Network : JNCCN.
2018 04; 16(4):352-358. doi:
10.6004/jnccn.2017.7041. [PMID: 29632054] - Samer Alsidawi, Pashtoon Murtaza Kasi. Exceptional response to everolimus in a novel tuberous sclerosis complex-2 mutation-associated metastatic renal-cell carcinoma.
Cold Spring Harbor molecular case studies.
2018 04; 4(2):. doi:
10.1101/mcs.a002220. [PMID: 29610387]