Publications:

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Analysis of renal lesions in Chinese tuberous sclerosis complex patients with different types of TSC gene mutations.

Genetics And Molecular Biology

Wang, Wenda W; Zhao, Yang Y; Wang, Xu X; Wang, Zhan Z; Cai, Yi Y; Li, Hanzhong H; Zhang, Yushi Y

Publication Date: 2022

Variant appearance in text: TSC2: 1831C>T

PubMed Link: 35638823

Variant Present in the following documents:

• Main text
• 1415-4757-GMB-45-2-e20200387.pdf

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Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex.

The Journal Of Clinical Investigation

Klonowska, Katarzyna K; Grevelink, Joannes M JM; Giannikou, Krinio K; Ogorek, Barbara A BA; Herbert, Zachary T ZT; Thorner, Aaron R AR; Darling, Thomas N TN; Moss, Joel J; Kwiatkowski, David J DJ

Publication Date: 2022-05-16

Variant appearance in text: TSC2: 1831C>T; Arg611Trp

PubMed Link: 35358092

Variant Present in the following documents:

• jci-132-155858-s186.xlsx, sheet 1

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Li-Fraumeni syndrome in Tunisian carriers with different and rare tumor phenotype: genotype-phenotype correlation.

Bmc Medical Genomics

Sassi, Hela H; Meddeb, Rym R; Cherif, Mohamed Aziz MA; Nasr, Chiraz C; Riahi, Aouatef A; Hannachi, Samia S; Belguith, Neila N; M'rad, Ridha R

Publication Date: 2022-03-04

Variant appearance in text: TSC2: R611W

PubMed Link: 35246108

Variant Present in the following documents:

• Main text
• 12920_2022_Article_1189.pdf

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Beyond Protein Synthesis; The Multifaceted Roles of Tuberin in Cell Cycle Regulation.

Frontiers In Cell And Developmental Biology

Fidalgo da Silva, E E; Fong, J J; Roye-Azar, A A; Nadi, A A; Drouillard, C C; Pillon, A A; Porter, L A LA

Publication Date: 2021

Variant appearance in text: TSC2: R611W

PubMed Link: 35096832

Variant Present in the following documents:

• Main text
• fcell-09-806521.pdf

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Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology

Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C

Publication Date: 2021

Variant appearance in text: TSC2: R611W

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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Tuberous sclerosis complex-lymphangioleiomyomatosis involving several visceral organs: A case report.

World Journal Of Clinical Cases

Chen, Hong-Bin HB; Xu, Xiao-Hong XH; Yu, Cai-Gui CG; Wan, Meng-Ting MT; Feng, Chuang-Li CL; Zhao, Zhi-Yu ZY; Mei, Dan-E DE; Chen, Jin-Ling JL

Publication Date: 2021-08-26

Variant appearance in text: TSC2: 1831C>T; Arg611Trp

PubMed Link: 34540963

Variant Present in the following documents:

• Main text
• WJCC-9-7085.pdf

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Application of Trio-Whole Exome Sequencing in Genetic Diagnosis and Therapy in Chinese Children With Epilepsy.

Frontiers In Molecular Neuroscience

Jiang, Tiejia T; Gao, Jia J; Jiang, Lihua L; Xu, Lu L; Zhao, Congying C; Su, Xiaojun X; Shen, Yaping Y; Gu, Weiyue W; Kong, Xiaohong X; Yang, Ying Y; Gao, Feng F

Publication Date: 2021

Variant appearance in text: TSC2: 1831C>T; R611W

PubMed Link: 34489640

Variant Present in the following documents:

• Main text

View BVdb publication page

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Detection of TSC1/TSC2 mosaic variants in patients with cardiac rhabdomyoma and tuberous sclerosis complex by hybrid-capture next-generation sequencing.

Molecular Genetics & Genomic Medicine

Wang, Siyu S; Sun, Hairui H; Wang, Jianbin J; Gu, Xiaoyan X; Han, Lu L; Wu, Yuduo Y; Yan, He H; Han, Ling L; Zhang, Hongjia H; He, Yihua Y

Publication Date: 2021-10

Variant appearance in text: TSC2: 1831C>T; R611W

PubMed Link: 34480426

Variant Present in the following documents:

• Main text
• MGG3-9-e1802.pdf

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Detection of TSC1/TSC2 mosaic variants in patients with cardiac rhabdomyoma and tuberous sclerosis complex by hybrid-capture next-generation sequencing.

Molecular Genetics & Genomic Medicine

Wang, Siyu S; Sun, Hairui H; Wang, Jianbin J; Gu, Xiaoyan X; Han, Lu L; Wu, Yuduo Y; Yan, He H; Han, Ling L; Zhang, Hongjia H; He, Yihua Y

Publication Date: 2021-10

Variant appearance in text: TSC2: 1831C>T; R611W

PubMed Link: 34480426

Variant Present in the following documents:

• Main text
• MGG3-9-e1802.pdf

View BVdb publication page

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Impaired myelin production due to an intrinsic failure of oligodendrocytes in mTORpathies.

Neuropathology And Applied Neurobiology

Gruber, Victoria-Elisabeth VE; Lang, Judith J; Endmayr, Verena V; Diehm, Robert R; Pimpel, Birgit B; Glatter, Sarah S; Anink, Jasper J JJ; Bongaarts, Anika A; Luinenburg, Mark J MJ; Reinten, Roy J RJ; van der Wel, Nicole N; Larsen, Per P; Hainfellner, Johannes A JA; Rössler, Karl K; Aronica, Eleonora E; Scholl, Theresa T; Mühlebner, Angelika A; Feucht, Martha M

Publication Date: 2021-10

Variant appearance in text: TSC2: Arg611Trp

PubMed Link: 34173252

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: TSC2: 1831C>T; R611W

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Architecture of the Tuberous Sclerosis Protein Complex.

Journal Of Molecular Biology

Ramlaul, Kailash K; Fu, Wencheng W; Li, Hua H; de Martin Garrido, Natàlia N; He, Lin L; Trivedi, Manjari M; Cui, Wei W; Aylett, Christopher H S CHS; Wu, Geng G

Publication Date: 2021-01-22

Variant appearance in text: TSC2: R611W

PubMed Link: 33307091

Variant Present in the following documents:

• mmc1.pdf

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First comprehensive TSC1/TSC2 mutational analysis in Mexican patients with Tuberous Sclerosis Complex reveals numerous novel pathogenic variants.

Scientific Reports

Reyna-Fabián, Miriam E ME; Hernández-Martínez, Nancy L NL; Alcántara-Ortigoza, Miguel A MA; Ayala-Sumuano, Jorge T JT; Enríquez-Flores, Sergio S; Velázquez-Aragón, José A JA; Varela-Echavarría, Alfredo A; Todd-Quiñones, Carlos G CG; González-Del Angel, Ariadna A

Publication Date: 2020-04-20

Variant appearance in text: TSC2: 1831C>T; rs45469298

PubMed Link: 32313033

Variant Present in the following documents:

• Main text
• 41598_2020_Article_62759.pdf

View BVdb publication page

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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: TSC2: R611W

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

View BVdb publication page

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Germline mutation of TSC1 or TSC2 gene in Chinese patients with bilateral renal angiomyolipomas and mutation spectrum of Chinese TSC patients.

Aging

Jiangyi, Wang W; Gang, Guo G; Guohai, Shi S; Dingwei, Ye Y

Publication Date: 2020-01-12

Variant appearance in text: TSC2: 1831C>T; Arg611Trp

PubMed Link: 31927531

Variant Present in the following documents:

• Main text
• aging-12-102654-s001..xlsx, sheet 1
• aging-12-102654.pdf

View BVdb publication page

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Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature

Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E

Publication Date: 2019-11

Variant appearance in text: TSC2: Arg611Trp

PubMed Link: 31645765

Variant Present in the following documents:

• 41586_2019_1689_MOESM14_ESM.xlsx, sheet 1
• 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: TSC2: 1831C>T; R611W

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: TSC2: 1831C>T; Arg611Trp

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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Successful treatment of a TSC2-mutant glioblastoma with everolimus.

Bmj Case Reports

Zureick, Andrew H AH; McFadden, Kathryn A KA; Mody, Rajen R; Koschmann, Carl C

Publication Date: 2019-05-31

Variant appearance in text: TSC2: R611W

PubMed Link: 31154346

Variant Present in the following documents:

• Main text

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: TSC2: 1831C>T; Arg611Trp

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Toward automation of germline variant curation in clinical cancer genetics.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J

Publication Date: 2019-09

Variant appearance in text: TSC2: 1831C>T; Arg611Trp

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6

View BVdb publication page

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Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1/TSC2 biallelic inactivation, and no BRAF mutations.

Oncotarget

Bongaarts, Anika A; Giannikou, Krinio K; Reinten, Roy J RJ; Anink, Jasper J JJ; Mills, James D JD; Jansen, Floor E FE; Spliet, G M Wim GMW; den Dunnen, Willfred F A WFA; Coras, Roland R; Blümcke, Ingmar I; Paulus, Werner W; Scholl, Theresa T; Feucht, Martha M; Kotulska, Katarzyna K; Jozwiak, Sergiusz S; Buccoliero, Anna Maria AM; Caporalini, Chiara C; Giordano, Flavio F; Genitori, Lorenzo L; Söylemezoğlu, Figen F; Pimentel, José J; Nellist, Mark M; Schouten-van Meeteren, Antoinette Y N AYN; Nag, Anwesha A; Mühlebner, Angelika A; Kwiatkowski, David J DJ; Aronica, Eleonora E

Publication Date: 2017-11-10

Variant appearance in text: TSC2: 1831C>T

PubMed Link: 29221145

Variant Present in the following documents:

• Main text
• oncotarget-08-95516.pdf

View BVdb publication page

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High prevalence of TP53 mutations is associated with poor survival and an EMT signature in gliosarcoma patients.

Experimental & Molecular Medicine

Cho, Sung-Yup SY; Park, Changho C; Na, Deukchae D; Han, Jee Yun JY; Lee, Jieun J; Park, Ok-Kyoung OK; Zhang, Chengsheng C; Sung, Chang Ohk CO; Moon, Hyo Eun HE; Kim, Yona Y; Kim, Jeong Hoon JH; Kim, Jong Jae JJ; Khang, Shin Kwang SK; Nam, Do-Hyun DH; Choi, Jung Won JW; Suh, Yeon-Lim YL; Kim, Dong Gyu DG; Park, Sung Hye SH; Youn, Hyewon H; Yun, Kyuson K; Kim, Jong-Il JI; Lee, Charles C; Paek, Sun Ha SH; Park, Hansoo H

Publication Date: 2017-04-14

Variant appearance in text: TSC2: R611W; rs45469298

PubMed Link: 28408749

Variant Present in the following documents:

• emm20179x1.xlsx, sheet 4

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: TSC2: R611W

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing.

Plos Genetics

Tyburczy, Magdalena E ME; Dies, Kira A KA; Glass, Jennifer J; Camposano, Susana S; Chekaluk, Yvonne Y; Thorner, Aaron R AR; Lin, Ling L; Krueger, Darcy D; Franz, David N DN; Thiele, Elizabeth A EA; Sahin, Mustafa M; Kwiatkowski, David J DJ

Publication Date: 2015-11

Variant appearance in text: TSC2: 1831C>T

PubMed Link: 26540169

Variant Present in the following documents:

• Main text
• pgen.1005637.pdf
• pgen.1005637.s005.pdf

View BVdb publication page

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Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2.

European Journal Of Human Genetics : Ejhg

Kwiatkowski, David J DJ; Palmer, Michael R MR; Jozwiak, Sergiusz S; Bissler, John J; Franz, David D; Segal, Scott S; Chen, David D; Sampson, Julian R JR

Publication Date: 2015-12

Variant appearance in text: TSC2: 1831C>T; Arg611Trp

PubMed Link: 25782670

Variant Present in the following documents:

• ejhg201547x2.xls, sheet 1

View BVdb publication page

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Complementary genomic approaches highlight the PI3K/mTOR pathway as a common vulnerability in osteosarcoma.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Perry, Jennifer A JA; Kiezun, Adam A; Tonzi, Peter P; Van Allen, Eliezer M EM; Carter, Scott L SL; Baca, Sylvan C SC; Cowley, Glenn S GS; Bhatt, Ami S AS; Rheinbay, Esther E; Pedamallu, Chandra Sekhar CS; Helman, Elena E; Taylor-Weiner, Amaro A; McKenna, Aaron A; DeLuca, David S DS; Lawrence, Michael S MS; Ambrogio, Lauren L; Sougnez, Carrie C; Sivachenko, Andrey A; Walensky, Loren D LD; Wagle, Nikhil N; Mora, Jaume J; de Torres, Carmen C; Lavarino, Cinzia C; Dos Santos Aguiar, Simone S; Yunes, Jose Andres JA; Brandalise, Silvia Regina SR; Mercado-Celis, Gabriela Elisa GE; Melendez-Zajgla, Jorge J; Cárdenas-Cardós, Rocío R; Velasco-Hidalgo, Liliana L; Roberts, Charles W M CW; Garraway, Levi A LA; Rodriguez-Galindo, Carlos C; Gabriel, Stacey B SB; Lander, Eric S ES; Golub, Todd R TR; Orkin, Stuart H SH; Getz, Gad G; Janeway, Katherine A KA

Publication Date: 2014-12-23

Variant appearance in text: TSC2: R611W

PubMed Link: 25512523

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex.

Human Molecular Genetics

Tyburczy, Magdalena E ME; Wang, Ji-An JA; Li, Shaowei S; Thangapazham, Rajesh R; Chekaluk, Yvonne Y; Moss, Joel J; Kwiatkowski, David J DJ; Darling, Thomas N TN

Publication Date: 2014-04-15

Variant appearance in text: TSC2: R611W

PubMed Link: 24271014

Variant Present in the following documents:

• Main text

View BVdb publication page

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Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.

Molecular Autism

Bahl, Samira S; Chiang, Colby C; Beauchamp, Roberta L RL; Neale, Benjamin M BM; Daly, Mark J MJ; Gusella, James F JF; Talkowski, Michael E ME; Ramesh, Vijaya V

Publication Date: 2013-03-20

Variant appearance in text: TSC2: R611W

PubMed Link: 23514105

Variant Present in the following documents:

• 2040-2392-4-5-S5.xls, sheet 1

View BVdb publication page

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Analysis of TSC cortical tubers by deep sequencing of TSC1, TSC2 and KRAS demonstrates that small second-hit mutations in these genes are rare events.

Brain Pathology (Zurich, Switzerland)

Qin, Wei W; Chan, Jennifer A JA; Vinters, Harry V HV; Mathern, Gary W GW; Franz, David N DN; Taillon, Bruce E BE; Bouffard, Pascal P; Kwiatkowski, David J DJ

Publication Date: 2010-11

Variant appearance in text: TSC2: R611W

PubMed Link: 20633017

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetics and molecular biology of tuberous sclerosis complex.

Current Genomics

Napolioni, Valerio V; Curatolo, Paolo P

Publication Date: 2008-11

Variant appearance in text: tuberin: R611W

PubMed Link: 19506736

Variant Present in the following documents:

• Main text
• CG-9-475.pdf

View BVdb publication page

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Tsc2 is not a critical target of Akt during normal Drosophila development.

Genes & Development

Dong, Jixin J; Pan, Duojia D

Publication Date: 2004-10-15

Variant appearance in text: TSC2: R611W

PubMed Link: 15466161

Variant Present in the following documents:

• Main text

View BVdb publication page

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