Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: VHL: 194C>G; Ser65Trp

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Application of Genomic Sequencing to Refine Patient Stratification for Adjuvant Therapy in Renal Cell Carcinoma.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Vasudev, Naveen S NS; Scelo, Ghislaine G; Glennon, Kate I KI; Wilson, Michelle M; Letourneau, Louis L; Eveleigh, Robert R; Nourbehesht, Nazanin N; Arseneault, Madeleine M; Paccard, Antoine A; Egevad, Lars L; Viksna, Juris J; Celms, Edgars E; Jackson, Sharon M SM; Abedi-Ardekani, Behnoush B; Warren, Anne Y AY; Selby, Peter J PJ; Trainor, Sebastian S; Kimuli, Michael M; Cartledge, Jon J; Soomro, Naeem N; Adeyoju, Adebanji A; Patel, Poulam M PM; Wozniak, Magdalena B MB; Holcatova, Ivana I; Brisuda, Antonin A; Janout, Vladimir V; Chanudet, Estelle E; Zaridze, David D; Moukeria, Anush A; Shangina, Oxana O; Foretova, Lenka L; Navratilova, Marie M; Mates, Dana D; Jinga, Viorel V; Bogdanovic, Ljiljana L; Kovacevic, Bozidar B; Cambon-Thomsen, Anne A; Bourque, Guillaume G; Brazma, Alvis A; Tost, Jörg J; Brennan, Paul P; Lathrop, Mark M; Riazalhosseini, Yasser Y; Banks, Rosamonde E RE

Publication Date: 2023-02-23

Variant appearance in text: VHL: 194C>G; Ser65Trp

PubMed Link: 36815791

Variant Present in the following documents:

• ccr-22-1936_supplementary_table_s2_suppts2.xlsx, sheet 1

View BVdb publication page

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Epigenomic charting and functional annotation of risk loci in renal cell carcinoma.

Nature Communications

Nassar, Amin H AH; Abou Alaiwi, Sarah S; Baca, Sylvan C SC; Adib, Elio E; Corona, Rosario I RI; Seo, Ji-Heui JH; Fonseca, Marcos A S MAS; Spisak, Sandor S; El Zarif, Talal T; Tisza, Viktoria V; Braun, David A DA; Du, Heng H; He, Monica M; Flaifel, Abdallah A; Alchoueiry, Michel M; Denize, Thomas T; Matar, Sayed G SG; Acosta, Andres A; Shukla, Sachet S; Hou, Yue Y; Steinharter, John J; Bouchard, Gabrielle G; Berchuck, Jacob E JE; O'Connor, Edward E; Bell, Connor C; Nuzzo, Pier Vitale PV; Mary Lee, Gwo-Shu GS; Signoretti, Sabina S; Hirsch, Michelle S MS; Pomerantz, Mark M; Henske, Elizabeth E; Gusev, Alexander A; Lawrenson, Kate K; Choueiri, Toni K TK; Kwiatkowski, David J DJ; Freedman, Matthew L ML

Publication Date: 2023-01-21

Variant appearance in text: VHL: 194C>G; S65W

PubMed Link: 36681680

Variant Present in the following documents:

• 41467_2023_35833_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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VHL syndrome without clear family history: A rare case report and literature review of Chinese patients.

Frontiers In Neurology

Li, Yaheng Y; Xin, Xiaohong X; Song, Wenzhu W; Zhang, Xuan X; Chen, Shengli S; Wang, Qian Q; Li, Aizhong A; Li, Yafeng Y

Publication Date: 2022

Variant appearance in text: VHL: 194C>G; Ser65Trp

PubMed Link: 36324386

Variant Present in the following documents:

• Main text
• fneur-13-951054.pdf

View BVdb publication page

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Clinical and Genetic Characteristics of Retinal Capillary Hemangioblastoma in Korean Patients.

Korean Journal Of Ophthalmology : Kjo

Lee, Sang Ha SH; Park, Kyu Hyung KH; Woo, Se Joon SJ; Park, Sang Jun SJ; Joo, Kwangsic K

Publication Date: 2022-10-25

Variant appearance in text: VHL: Ser65Trp

PubMed Link: 36281577

Variant Present in the following documents:

• Main text
• kjo-2022-0079.pdf

View BVdb publication page

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Systematic prediction of degrons and E3 ubiquitin ligase binding via deep learning.

Bmc Biology

Hou, Chao C; Li, Yuxuan Y; Wang, Mengyao M; Wu, Hong H; Li, Tingting T

Publication Date: 2022-07-14

Variant appearance in text: VHL: S65W

PubMed Link: 35836176

Variant Present in the following documents:

• 12915_2022_1364_MOESM6_ESM.xlsx, sheet 3

View BVdb publication page

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VHL Ser65 mutations enhance HIF2α signaling and promote epithelial-mesenchymal transition of renal cancer cells.

Cell & Bioscience

Ma, Xueyou X; Tan, Zenglai Z; Zhang, Qin Q; Ma, Kaifang K; Xiao, Jun J; Wang, Xiong X; Wang, Yanan Y; Zhong, Mengjie M; Wang, Yu Y; Li, Jing J; Zeng, Xing X; Guan, Wei W; Wang, Shaogang S; Gong, Kan K; Wei, Gong-Hong GH; Wang, Zhihua Z

Publication Date: 2022-05-03

Variant appearance in text: VHL: S65W

PubMed Link: 35505422

Variant Present in the following documents:

• Main text
• 13578_2022_790_MOESM5_ESM.pdf
• 13578_2022_Article_790.pdf

View BVdb publication page

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Are transient protein-protein interactions more dispensable?

Plos Computational Biology

Ghadie, Mohamed Ali MA; Xia, Yu Y

Publication Date: 2022-04

Variant appearance in text: VHL: 194C>G; Ser65Trp

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4

View BVdb publication page

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VHL-P138R and VHL-L163R Novel Variants: Mechanisms of VHL Pathogenicity Involving HIF-Dependent and HIF-Independent Actions.

Frontiers In Endocrinology

Mathó, Cecilia C; Fernández, María Celia MC; Bonanata, Jenner J; Liu, Xian-De XD; Martin, Ayelen A; Vieites, Ana A; Sansó, Gabriela G; Barontini, Marta M; Jonasch, Eric E; Coitiño, E Laura EL; Pennisi, Patricia Alejandra PA

Publication Date: 2022

Variant appearance in text: VHL: S65W

PubMed Link: 35388293

Variant Present in the following documents:

• Main text
• fendo-13-854365.pdf

View BVdb publication page

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Decrease of Intracellular Glutamine by STF-62247 Results in the Accumulation of Lipid Droplets in von Hippel-Lindau Deficient Cells.

Frontiers In Oncology

Johnson, Mathieu M; Nowlan, Sarah S; Sahin, Gülsüm G; Barnett, David A DA; Joy, Andrew P AP; Touaibia, Mohamed M; Cuperlovic-Culf, Miroslava M; Zofija Avizonis, Daina D; Turcotte, Sandra S

Publication Date: 2022

Variant appearance in text: VHL: S65W

PubMed Link: 35223522

Variant Present in the following documents:

• Main text
• fonc-12-841054.pdf

View BVdb publication page

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The Role of VHL in the Development of von Hippel-Lindau Disease and Erythrocytosis.

Genes

Hudler, Petra P; Urbancic, Mojca M

Publication Date: 2022-02-17

Variant appearance in text: VHL: S65W

PubMed Link: 35205407

Variant Present in the following documents:

• Main text
• genes-13-00362.pdf

View BVdb publication page

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Identification of a VHL gene mutation in atypical Von Hippel-Lindau syndrome: genotype-phenotype correlation and gene therapy perspective.

Cancer Cell International

Tong, Dali D; Zhang, Yao Y; Jiang, Jun J; Bi, Gang G

Publication Date: 2021-12-19

Variant appearance in text: VHL: 194C>G

PubMed Link: 34923986

Variant Present in the following documents:

• 12935_2021_Article_2386.pdf

View BVdb publication page

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Clinical characteristics and risk factors for survival in affected offspring of von Hippel-Lindau disease patients.

Journal Of Medical Genetics

Zhang, Kenan K; Qiu, Jianhui J; Yang, Wuping W; Ma, Kaifang K; Li, Lei L; Xie, Haibiao H; Xu, Yawei Y; Gong, Yanqing Y; Zhou, Jingcheng J; Cai, Lin L; Gong, Kan K

Publication Date: 2022-10

Variant appearance in text: VHL: 194C>G; Ser65Trp

PubMed Link: 34916234

Variant Present in the following documents:

• jmedgenet-2021-108216supp006.pdf

View BVdb publication page

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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: VHL: S65W

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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Outcome and genetic analysis of patients affected by retinal capillary hemangioblastoma in von Hippel Lindau syndrome.

Molecular Vision

Murro, Vittoria V; Lippera, Myrta M; Mucciolo, Dario Pasquale DP; Canu, Letizia L; Ercolino, Tonino T; De Filpo, Giuseppina G; Giorgio, Dario D; Traficante, Giovanna G; Sodi, Andrea A; Virgili, Gianni G; Giansanti, Fabrizio F

Publication Date: 2021

Variant appearance in text: VHL: 194C>G; Ser65Trp

PubMed Link: 34566400

Variant Present in the following documents:

• Main text
• mv-v27-542.pdf

View BVdb publication page

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Detection of von Hippel-Lindau gene mutation in circulating cell-free DNA for clear cell renal cell carcinoma.

Cancer Science

Sumiyoshi, Takayuki T; Yamasaki, Toshinari T; Takeda, Masashi M; Mizuno, Kei K; Utsunomiya, Noriaki N; Sakamoto, Hiromasa H; Nakamura, Eijiro E; Ogawa, Osamu O; Akamatsu, Shusuke S

Publication Date: 2021-08

Variant appearance in text: VHL: S65W

PubMed Link: 34009695

Variant Present in the following documents:

• Main text
• CAS-112-3363.pdf

View BVdb publication page

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Spatially interacting phosphorylation sites and mutations in cancer.

Nature Communications

Huang, Kuan-Lin KL; Scott, Adam D AD; Zhou, Daniel Cui DC; Wang, Liang-Bo LB; Weerasinghe, Amila A; Elmas, Abdulkadir A; Liu, Ruiyang R; Wu, Yige Y; Wendl, Michael C MC; Wyczalkowski, Matthew A MA; Baral, Jessika J; Sengupta, Sohini S; Lai, Chin-Wen CW; Ruggles, Kelly K; Payne, Samuel H SH; Raphael, Benjamin B; Fenyö, David D; Chen, Ken K; Mills, Gordon G; Ding, Li L

Publication Date: 2021-04-19

Variant appearance in text: VHL: S65W

PubMed Link: 33875650

Variant Present in the following documents:

• 41467_2021_22481_MOESM4_ESM.xlsx, sheet 6
• 41467_2021_22481_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma.

Nature Communications

Bakouny, Ziad Z; Braun, David A DA; Shukla, Sachet A SA; Pan, Wenting W; Gao, Xin X; Hou, Yue Y; Flaifel, Abdallah A; Tang, Stephen S; Bosma-Moody, Alice A; He, Meng Xiao MX; Vokes, Natalie N; Nyman, Jackson J; Xie, Wanling W; Nassar, Amin H AH; Abou Alaiwi, Sarah S; Flippot, Ronan R; Bouchard, Gabrielle G; Steinharter, John A JA; Nuzzo, Pier Vitale PV; Ficial, Miriam M; Sant'Angelo, Miriam M; Forman, Juliet J; Berchuck, Jacob E JE; Dudani, Shaan S; Bi, Kevin K; Park, Jihye J; Camp, Sabrina S; Sticco-Ivins, Maura M; Hirsch, Laure L; Baca, Sylvan C SC; Wind-Rotolo, Megan M; Ross-Macdonald, Petra P; Sun, Maxine M; Lee, Gwo-Shu Mary GM; Chang, Steven L SL; Wei, Xiao X XX; McGregor, Bradley A BA; Harshman, Lauren C LC; Genovese, Giannicola G; Ellis, Leigh L; Pomerantz, Mark M; Hirsch, Michelle S MS; Freedman, Matthew L ML; Atkins, Michael B MB; Wu, Catherine J CJ; Ho, Thai H TH; Linehan, W Marston WM; McDermott, David F DF; Heng, Daniel Y C DYC; Viswanathan, Srinivas R SR; Signoretti, Sabina S; Van Allen, Eliezer M EM; Choueiri, Toni K TK

Publication Date: 2021-02-05

Variant appearance in text: VHL: 194C>G; S65W

PubMed Link: 33547292

Variant Present in the following documents:

• 41467_2021_21068_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Molecular correlates and therapeutic targets in T cell-inflamed versus non-T cell-inflamed tumors across cancer types.

Genome Medicine

Bao, Riyue R; Stapor, Daniel D; Luke, Jason J JJ

Publication Date: 2020-10-27

Variant appearance in text: VHL: S65W

PubMed Link: 33106165

Variant Present in the following documents:

• 13073_2020_787_MOESM1_ESM.xlsx, sheet 9

View BVdb publication page

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Patient specific circulating tumor DNA fingerprints to monitor treatment response across multiple tumors.

Journal Of Translational Medicine

Li, Jiaping J; Jiang, Wei W; Wei, Jinwang J; Zhang, Jianwei J; Cai, Linbo L; Luo, Minjie M; Wang, Zhan Z; Sun, Wending W; Wang, Shengzhou S; Wang, Chen C; Dai, Chun C; Liu, Jun J; Wang, Guan G; Wang, Jiping J; Xu, Qiang Q; Deng, Yanhong Y

Publication Date: 2020-08-01

Variant appearance in text: VHL: 194C>G; S65W

PubMed Link: 32738923

Variant Present in the following documents:

• 12967_2020_2449_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: VHL: S65W

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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: VHL: S65W

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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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: VHL: 194C>G; S65W

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Standard operating procedure for curation and clinical interpretation of variants in cancer.

Genome Medicine

Danos, Arpad M AM; Krysiak, Kilannin K; Barnell, Erica K EK; Coffman, Adam C AC; McMichael, Joshua F JF; Kiwala, Susanna S; Spies, Nicholas C NC; Sheta, Lana M LM; Pema, Shahil P SP; Kujan, Lynzey L; Clark, Kaitlin A KA; Wollam, Amber Z AZ; Rao, Shruti S; Ritter, Deborah I DI; Sonkin, Dmitriy D; Raca, Gordana G; Lin, Wan-Hsin WH; Grisdale, Cameron J CJ; Kim, Raymond H RH; Wagner, Alex H AH; Madhavan, Subha S; Griffith, Malachi M; Griffith, Obi L OL

Publication Date: 2019-11-29

Variant appearance in text: VHL: 194C>G; S65W

PubMed Link: 31779674

Variant Present in the following documents:

• 13073_2019_687_MOESM1_ESM.pdf

View BVdb publication page

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Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications

Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H

Publication Date: 2019-09-12

Variant appearance in text: rs5030826

PubMed Link: 31515488

Variant Present in the following documents:

• 41467_2019_11959_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Estimating dispensable content in the human interactome.

Nature Communications

Ghadie, Mohamed M; Xia, Yu Y

Publication Date: 2019-07-19

Variant appearance in text: VHL: 194C>G; Ser65Trp

PubMed Link: 31324802

Variant Present in the following documents:

• 41467_2019_11180_MOESM8_ESM.xlsx, sheet 4
• 41467_2019_11180_MOESM6_ESM.xlsx, sheet 4

View BVdb publication page

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Incidence and distribution of UroSEEK gene panel in a multi-institutional cohort of bladder urothelial carcinoma.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Eich, Marie-Lisa ML; Rodriguez Pena, Maria Del Carmen MDC; Springer, Simeon U SU; Taheri, Diana D; Tregnago, Aline C AC; Salles, Daniela C DC; Bezerra, Stephania Martins SM; Cunha, Isabela W IW; Fujita, Kazutoshi K; Ertoy, Dilek D; Bivalacqua, Trinity J TJ; Tomasetti, Cristian C; Papadopoulos, Nickolas N; Kinzler, Ken W KW; Vogelstein, Bert B; Netto, George J GJ

Publication Date: 2019-10

Variant appearance in text: VHL: S65W

PubMed Link: 31028363

Variant Present in the following documents:

• NIHMS1525315-supplement-2.xlsx, sheet 1

View BVdb publication page

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The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma.

Cell Reports

Ricketts, Christopher J CJ; De Cubas, Aguirre A AA; Fan, Huihui H; Smith, Christof C CC; Lang, Martin M; Reznik, Ed E; Bowlby, Reanne R; Gibb, Ewan A EA; Akbani, Rehan R; Beroukhim, Rameen R; Bottaro, Donald P DP; Choueiri, Toni K TK; Gibbs, Richard A RA; Godwin, Andrew K AK; Haake, Scott S; Hakimi, A Ari AA; Henske, Elizabeth P EP; Hsieh, James J JJ; Ho, Thai H TH; Kanchi, Rupa S RS; Krishnan, Bhavani B; Kwiatkowski, David J DJ; Lui, Wembin W; Merino, Maria J MJ; Mills, Gordon B GB; Myers, Jerome J; Nickerson, Michael L ML; Reuter, Victor E VE; Schmidt, Laura S LS; Shelley, C Simon CS; Shen, Hui H; Shuch, Brian B; Signoretti, Sabina S; Srinivasan, Ramaprasad R; Tamboli, Pheroze P; Thomas, George G; Vincent, Benjamin G BG; Vocke, Cathy D CD; Wheeler, David A DA; Yang, Lixing L; Kim, William Y WY; Robertson, A Gordon AG; , ; Spellman, Paul T PT; Rathmell, W Kimryn WK; Linehan, W Marston WM

Publication Date: 2018-04-03

Variant appearance in text: VHL: 194C>G; S65W

PubMed Link: 29617669

Variant Present in the following documents:

• NIHMS958988-supplement-3.xlsx, sheet 1

View BVdb publication page

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In silico VHL Gene Mutation Analysis and Prognosis of Pancreatic Neuroendocrine Tumors in von Hippel-Lindau Disease.

The Journal Of Clinical Endocrinology And Metabolism

Tirosh, Amit A; El Lakis, Mustapha M; Green, Patience P; Nockel, Pavel P; Patel, Dhaval D; Nilubol, Naris N; Gara, Sudheer Kumar SK; Keutgen, Xavier M XM; Linehan, W Marston WM; Kebebew, Electron E

Publication Date: 2018-04-01

Variant appearance in text: VHL: S65W

PubMed Link: 29294023

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications

Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ

Publication Date: 2017-08-04

Variant appearance in text: VHL: 194C>G; S65W

PubMed Link: 28775315

Variant Present in the following documents:

• 41467_2017_289_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: VHL: 194C>G; Ser65Trp

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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VHL missense mutations in the p53 binding domain show different effects on p53 signaling and HIFα degradation in clear cell renal cell carcinoma.

Oncotarget

Razafinjatovo, Caroline Fanja CF; Stiehl, Daniel D; Deininger, Eva E; Rechsteiner, Markus M; Moch, Holger H; Schraml, Peter P

Publication Date: 2017-02-07

Variant appearance in text: VHL: Ser65Trp

PubMed Link: 28052007

Variant Present in the following documents:

• Main text
• oncotarget-08-10199.pdf

View BVdb publication page

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TERT promoter mutations in pancreatic endocrine tumours are rare and mainly found in tumours from patients with hereditary syndromes.

Scientific Reports

Vinagre, João J; Nabais, Joana J; Pinheiro, Jorge J; Batista, Rui R; Oliveira, Rui Caetano RC; Gonçalves, António Pedro AP; Pestana, Ana A; Reis, Marta M; Mesquita, Bárbara B; Pinto, Vasco V; Lyra, Joana J; Cipriano, Maria Augusta MA; Ferreira, Miguel Godinho MG; Lopes, José Manuel JM; Sobrinho-Simões, Manuel M; Soares, Paula P

Publication Date: 2016-07-14

Variant appearance in text: VHL: S65W

PubMed Link: 27411289

Variant Present in the following documents:

• Main text
• srep29714.pdf

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: VHL: 194C>G; S65W

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

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: VHL: S65W

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Advanced renal cell carcinoma associated with von Hippel-Lindau disease: A case report and review of the literature.

Oncology Letters

Zhang, Lei L; Xu, Bin B; Wang, Yiduo Y; Liu, Chunhui C; Lu, Kai K; Huang, Yeqing Y; Liu, Ning N; Zhang, Xiaowen X; Chen, Shuqiu S; Chen, Ming M

Publication Date: 2015-08

Variant appearance in text: VHL: 194C>G; Ser65Trp

PubMed Link: 26622630

Variant Present in the following documents:

• Main text

View BVdb publication page

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Gender Specific Mutation Incidence and Survival Associations in Clear Cell Renal Cell Carcinoma (CCRCC).

Plos One

Ricketts, Christopher J CJ; Linehan, W Marston WM

Publication Date: 2015

Variant appearance in text: VHL: S65W

PubMed Link: 26484545

Variant Present in the following documents:

• pone.0140257.s003.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: VHL: S65W

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM2_ESM.xls, sheet 1
• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Protein domain-level landscape of cancer-type-specific somatic mutations.

Plos Computational Biology

Yang, Fan F; Petsalaki, Evangelia E; Rolland, Thomas T; Hill, David E DE; Vidal, Marc M; Roth, Frederick P FP

Publication Date: 2015-03

Variant appearance in text: VHL: S65W

PubMed Link: 25794154

Variant Present in the following documents:

• pcbi.1004147.s001.xlsx, sheet 1

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Clinical and genetic investigation of a multi-generational Chinese family afflicted with Von Hippel-Lindau disease.

Chinese Medical Journal

Zhang, Jingyao J; Ma, Jie J; Du, Xiaoyun X; Wu, Dapeng D; Ai, Hong H; Bai, Jigang J; Dong, Shunbin S; Yang, Qinling Q; Qu, Kai K; Lyu, Yi Y; Valenzuela, Robert K RK; Liu, Chang C

Publication Date: 2015-01-05

Variant appearance in text: VHL: S65W

PubMed Link: 25563310

Variant Present in the following documents:

• CMJ-128-32.pdf

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: VHL: S65W

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-6.xlsx, sheet 1

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An integrated computational approach can classify VHL missense mutations according to risk of clear cell renal carcinoma.

Human Molecular Genetics

Gossage, Lucy L; Pires, Douglas E V DE; Olivera-Nappa, Álvaro Á; Asenjo, Juan J; Bycroft, Mark M; Blundell, Tom L TL; Eisen, Tim T

Publication Date: 2014-11-15

Variant appearance in text: VHL: S65W

PubMed Link: 24969085

Variant Present in the following documents:

• supp_ddu321_ddu321supp_table.xlsx, sheet 2

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: VHL: S65W

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 1

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Determination of the consequences of VHL mutations on VHL transcripts in renal cell carcinoma.

International Journal Of Oncology

Taylor, Claire C; Craven, Rachel A RA; Harnden, Patricia P; Selby, Peter J PJ; Banks, Rosamonde E RE

Publication Date: 2012-10

Variant appearance in text: VHL: 194C>G; S65*

PubMed Link: 22825683

Variant Present in the following documents:

• ijo-41-04-1229.pdf

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Identification of 3 novel VHL germ-line mutations in Danish VHL patients.

Bmc Medical Genetics

Dandanell, Mette M; Friis-Hansen, Lennart L; Sunde, Lone L; Nielsen, Finn C FC; Hansen, Thomas V O TV

Publication Date: 2012-07-16

Variant appearance in text: VHL: 194C>G; Ser65Trp

PubMed Link: 22799452

Variant Present in the following documents:

• Main text
• 1471-2350-13-54.pdf

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Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research

Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C

Publication Date: 2011-09-01

Variant appearance in text: VHL: S65W

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

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Mutations in the von hippel-lindau tumour suppressor gene in central nervous system hemangioblastomas.

Hereditary Cancer In Clinical Practice

Cybulski, Cezary C; Matyjasik, Joanna J; Soroka, Marianna M; Szymaś, Janusz J; Górski, Bohdan B; Debniak, Tadeusz T; Jakubowska, Anna A; Bernaczyk, Andrzej A; Zimnoch, Lech L; Bierzyńska-Macyszyn, Grazyna G; Trojanowski, Tomasz T; Wierzba-Bobrowicz, Teresa T; Prudlak, Edmund E; Markowska-Wojciechowska, Alicja A; Nowacki, Przemysław P; Roszkiewicz, Andrzej A; Kordek, Radzisław R; Szylberg, Tadeusz T; Matyja, Ewa E; Zieliński, Krzysztof K; Woźniewicz, Bogdan B; Taraszewska, Anna A; Kozłowski, Wojciech W; Lubiński, Jan J

Publication Date: 2004-03-15

Variant appearance in text: VHL: Ser65Trp

PubMed Link: 20233476

Variant Present in the following documents:

• Main text

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Differences in regulation of tight junctions and cell morphology between VHL mutations from disease subtypes.

Bmc Cancer

Bangiyeva, Valentina V; Rosenbloom, Ava A; Alexander, Ashlynn E AE; Isanova, Bella B; Popko, Timothy T; Schoenfeld, Alan R AR

Publication Date: 2009-07-14

Variant appearance in text: VHL: S65W

PubMed Link: 19602254

Variant Present in the following documents:

• Main text

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: VHL: S65W

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File011.xls, sheet 1
• gkn1008_nar-01723-s-2008-File009.xls, sheet 1

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Hypoxia-inducible factor-2alpha regulates the expression of TRAIL receptor DR5 in renal cancer cells.

Carcinogenesis

Mahajan, S S; Dammai, V V; Hsu, T T; Kraft, A S AS

Publication Date: 2008-09

Variant appearance in text: VHL: S65W

PubMed Link: 18544564

Variant Present in the following documents:

• Main text
• bgn132.pdf

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The von Hippel-Lindau tumour-suppressor protein interaction with protein kinase Cdelta.

The Biochemical Journal

Iturrioz, Xavier X; Durgan, Joanne J; Calleja, Véronique V; Larijani, Banafshé B; Okuda, Heiwa H; Whelan, Richard R; Parker, Peter J PJ

Publication Date: 2006-07-01

Variant appearance in text: VHL: S65W

PubMed Link: 16669786

Variant Present in the following documents:

• Main text

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Site-directed mutagenesis using Pfu DNA polymerase and T4 DNA ligase.

Biotechniques

Adereth, Yair Y; Champion, Kristen J KJ; Hsu, Tien T; Dammai, Vincent V

Publication Date: 2005-06

Variant appearance in text: VHL: S65W

PubMed Link: 16018545

Variant Present in the following documents:

• Main text

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