Publications:

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The germline mutational landscape of genitourinary cancers and its indication for prognosis and risk.

Bmc Urology

Yang, Yong Y; Zhang, Guoying G; Hu, Chen C; Luo, Wei W; Jiang, Haiyang H; Liu, Shaoyou S; Yang, Hong H

Publication Date: 2022-11-30

Variant appearance in text: VHL: L188V

PubMed Link: 36451132

Variant Present in the following documents:

• Main text

View BVdb publication page

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EV-ADD, a database for EV-associated DNA in human liquid biopsy samples.

Journal Of Extracellular Vesicles

Tsering, Thupten T; Li, Mingyang M; Chen, Yunxi Y; Nadeau, Amélie A; Laskaris, Alexander A; Abdouh, Mohamed M; Bustamante, Prisca P; Burnier, Julia V JV

Publication Date: 2022-10

Variant appearance in text: VHL: L188V

PubMed Link: 36271888

Variant Present in the following documents:

• JEV2-11-e12270-s002.xlsx, sheet 1

View BVdb publication page

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Impaired oxygen-sensitive regulation of mitochondrial biogenesis within the von Hippel-Lindau syndrome.

Nature Metabolism

Li, Shuijie S; Li, Wenyu W; Yuan, Juan J; Bullova, Petra P; Wu, Jieyu J; Zhang, Xuepei X; Liu, Yong Y; Plescher, Monika M; Rodriguez, Javier J; Bedoya-Reina, Oscar C OC; Jannig, Paulo R PR; Valente-Silva, Paula P; Yu, Meng M; Henriksson, Marie Arsenian MA; Zubarev, Roman A RA; Smed-Sörensen, Anna A; Suzuki, Carolyn K CK; Ruas, Jorge L JL; Holmberg, Johan J; Larsson, Catharina C; Christofer Juhlin, C C; von Kriegsheim, Alex A; Cao, Yihai Y; Schlisio, Susanne S

Publication Date: 2022-06

Variant appearance in text: VHL: L188V

PubMed Link: 35760869

Variant Present in the following documents:

• 42255_2022_593_MOESM23_ESM.xlsx, sheet 1

View BVdb publication page

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Observational study of population genomic screening for variants associated with endocrine tumor syndromes in a large, healthcare-based cohort.

Bmc Medicine

Savatt, Juliann M JM; Ortiz, Nicole M NM; Thone, Gretchen M GM; McDonald, Whitney S WS; Kelly, Melissa A MA; Berry, Alexander S F ASF; Alvi, Madiha M MM; Hallquist, Miranda L G MLG; Malinowski, Jennifer J; Purdy, Nicholas C NC; Williams, Marc S MS; Sturm, Amy C AC; Buchanan, Adam H AH

Publication Date: 2022-06-07

Variant appearance in text: VHL: 562C>G

PubMed Link: 35668420

Variant Present in the following documents:

• Main text
• 12916_2022_2375_MOESM1_ESM.xlsx, sheet 1
• 12916_2022_Article_2375.pdf

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: L188V

PubMed Link: 35388293

Variant Present in the following documents:

• Main text
• fendo-13-854365.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: L188V

PubMed Link: 35205407

Variant Present in the following documents:

• Main text
• genes-13-00362.pdf

View BVdb publication page

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Erythrocytosis associated with EPAS1(HIF2A), EGLN1(PHD2), VHL, EPOR or BPGM mutations: The Mayo Clinic experience.

Haematologica

Gangat, Naseema N; Oliveira, Jennifer L JL; Porter, Tavanna R TR; Hoyer, James D JD; Al-Kali, Aref A; Patnaik, Mrinal M MM; Pardanani, Animesh A; Tefferi, Ayalew A

Publication Date: 2022-05-01

Variant appearance in text: VHL: L188V

PubMed Link: 35142155

Variant Present in the following documents:

• Main text
• 1071201.pdf

View BVdb publication page

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rs779805 Von Hippel-Lindau Gene Polymorphism Induced/Related Polycythemia Entity, Clinical Features, Cancer Association, and Familiar Characteristics.

Pathology Oncology Research : Por

Remenyi, Gyula G; Bereczky, Zsuzsanna Z; Gindele, Réka R; Ujfalusi, Aniko A; Illes, Arpad A; Udvardy, Miklos M

Publication Date: 2021

Variant appearance in text: VHL: L188V

PubMed Link: 34899081

Variant Present in the following documents:

• pore-27-1609987.pdf

View BVdb publication page

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Germline VHL Mutation Discovered in Association with EGFR-Positive Lung Cancer and Metachronous Hepatocellular Carcinoma: A Case Report.

Case Reports In Oncology

Kuhlman, Justin J JJ; Frier, Quinn J QJ; Sumarriva, Daniel D; Oberley, Matthew M; Bolton, Danielle D; Deveras, Ruby A RA

Publication Date: 2021

Variant appearance in text: VHL: 562C>G; L188V

PubMed Link: 34720947

Variant Present in the following documents:

• Main text
• cro-0014-1392.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: L188V

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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Molecular Profile of Advanced Cutaneous Squamous Cell Carcinoma.

The Journal Of Clinical And Aesthetic Dermatology

Jones, Jordan J; Wetzel, Megan M; Brown, Timothy T; Jung, Jae J

Publication Date: 2021-05

Variant appearance in text: VHL: L188V

PubMed Link: 34188747

Variant Present in the following documents:

• Main text

View BVdb publication page

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GIPC2 is an endocrine-specific tumor suppressor gene for both sporadic and hereditary tumors of RET- and SDHB-, but not VHL-associated clusters of pheochromocytoma/paraganglioma.

Cell Death & Disease

Dong, Yeqing Y; Huang, Yongsheng Y; Fan, Chengyan C; Wang, Liang L; Zhang, Ran R; Li, Wenhua W; Guo, Zhengguang Z; Wang, Dong D; Zheng, Zhi Z

Publication Date: 2021-05-04

Variant appearance in text: VHL: L188V

PubMed Link: 33947839

Variant Present in the following documents:

• Main text

View BVdb publication page

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Erythrocytosis: genes and pathways involved in disease development.

Blood Transfusion = Trasfusione Del Sangue

Gašperšič, Jernej J; Kristan, Aleša A; Kunej, Tanja T; Zupan, Irena Preložnik IP; Debeljak, Nataša N

Publication Date: 2021-11

Variant appearance in text: VHL: 562C>G; Leu188Val; rs5030824

PubMed Link: 33370224

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical decision making in small non-functioning VHL-related incidentalomas.

Endocrine Connections

Därr, Roland R; Kater, Jonas J; Sekula, Peggy P; Bausch, Birke B; Krauss, Tobias T; Bode, Christoph C; Walz, Gerd G; Neumann, Hartmut P HP; Zschiedrich, Stefan S

Publication Date: 2020-08

Variant appearance in text: VHL: Leu188Val

PubMed Link: 32869749

Variant Present in the following documents:

• Main text
• EC-20-0208.pdf

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: 562C>G; L188V

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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Genetic and epigenetic alterations in pancreatic neuroendocrine tumors.

Journal Of Gastrointestinal Oncology

Tirosh, Amit A; Kebebew, Electron E

Publication Date: 2020-06

Variant appearance in text: VHL: L188V

PubMed Link: 32655936

Variant Present in the following documents:

• Main text

View BVdb publication page

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Frequency of genomic secondary findings among 21,915 eMERGE network participants.

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

,

Publication Date: 2020-09

Variant appearance in text: VHL: 562C>G; Leu188Val

PubMed Link: 32546831

Variant Present in the following documents:

• NIHMS1615423-supplement-Supplementary_Table_2.xlsx, sheet 1

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: L188V

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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pVHL-mediated regulation of the anti-angiogenic protein thrombospondin-1 decreases migration of Clear Cell Renal Carcinoma Cell Lines.

Scientific Reports

Sevilla-Montero, Javier J; Bienes-Martínez, Raquel R; Labrousse-Arias, David D; Fuertes-Yebra, Esther E; Ordóñez, Ángel Á; Calzada, María J MJ

Publication Date: 2020-01-24

Variant appearance in text: VHL: L188V

PubMed Link: 31980715

Variant Present in the following documents:

• Main text
• 41598_2020_58137_MOESM1_ESM.pdf
• 41598_2020_Article_58137.pdf

View BVdb publication page

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Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma.

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

Nassar, Amin H AH; Abou Alaiwi, Sarah S; AlDubayan, Saud H SH; Moore, Nicholas N; Mouw, Kent W KW; Kwiatkowski, David J DJ; Choueiri, Toni K TK; Curran, Catherine C; Berchuck, Jacob E JE; Harshman, Lauren C LC; Nuzzo, Pier V PV; Chanza, Nieves Martinez NM; Van Allen, Eliezer E; Esplin, Edward D ED; Yang, Shan S; Callis, Thomas T; Garber, Judy E JE; Rana, Huma Q HQ; Sonpavde, Guru G

Publication Date: 2020-04

Variant appearance in text: VHL: 562C>G; Leu188Val

PubMed Link: 31844177

Variant Present in the following documents:

• 41436_2019_720_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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TAPES: A tool for assessment and prioritisation in exome studies.

Plos Computational Biology

Xavier, Alexandre A; Scott, Rodney J RJ; Talseth-Palmer, Bente A BA

Publication Date: 2019-10

Variant appearance in text: VHL: L188V; rs5030824

PubMed Link: 31613886

Variant Present in the following documents:

• pcbi.1007453.s004.xlsx, sheet 7
• pcbi.1007453.s002.xlsx, sheet 1
• pcbi.1007453.s004.xlsx, sheet 2

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: VHL: 562C>G; L188V

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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Comparison of Pheochromocytoma-Specific Morbidity and Mortality Among Adults With Bilateral Pheochromocytomas Undergoing Total Adrenalectomy vs Cortical-Sparing Adrenalectomy.

Jama Network Open

Neumann, Hartmut P H HPH; Tsoy, Uliana U; Bancos, Irina I; Amodru, Vincent V; Walz, Martin K MK; Tirosh, Amit A; Kaur, Ravinder Jeet RJ; McKenzie, Travis T; Qi, Xiaoping X; Bandgar, Tushar T; Petrov, Roman R; Yukina, Marina Y MY; Roslyakova, Anna A; van der Horst-Schrivers, Anouk N A ANA; Berends, Annika M A AMA; Hoff, Ana O AO; Castroneves, Luciana Audi LA; Ferrara, Alfonso Massimiliano AM; Rizzati, Silvia S; Mian, Caterina C; Dvorakova, Sarka S; Hasse-Lazar, Kornelia K; Kvachenyuk, Andrey A; Peczkowska, Mariola M; Loli, Paola P; Erenler, Feyza F; Krauss, Tobias T; Almeida, Madson Q MQ; Liu, Longfei L; Zhu, Feizhou F; Recasens, Mònica M; Wohllk, Nelson N; Corssmit, Eleonora P M EPM; Shafigullina, Zulfiya Z; Calissendorff, Jan J; Grozinsky-Glasberg, Simona S; Kunavisarut, Tada T; Schalin-Jäntti, Camilla C; Castinetti, Frederic F; Vlcek, Petr P; Beltsevich, Dmitry D; Egorov, Viacheslav I VI; Schiavi, Francesca F; Links, Thera P TP; Lechan, Ronald M RM; Bausch, Birke B; Young, William F WF; Eng, Charis C; ,

Publication Date: 2019-08-02

Variant appearance in text: VHL: 562C>G; Leu188Val

PubMed Link: 31397861

Variant Present in the following documents:

• jamanetwopen-2-e198898-s001.pdf

View BVdb publication page

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EglN3 hydroxylase stabilizes BIM-EL linking VHL type 2C mutations to pheochromocytoma pathogenesis and chemotherapy resistance.

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

Li, Shuijie S; Rodriguez, Javier J; Li, Wenyu W; Bullova, Petra P; Fell, Stuart M SM; Surova, Olga O; Westerlund, Isabelle I; Topcic, Danijal D; Bergsland, Maria M; Stenman, Adam A; Muhr, Jonas J; Nistér, Monica M; Holmberg, Johan J; Juhlin, C Christofer CC; Larsson, Catharina C; von Kriegsheim, Alex A; Kaelin, William G WG; Schlisio, Susanne S

Publication Date: 2019-08-20

Variant appearance in text: VHL: L188V

PubMed Link: 31375625

Variant Present in the following documents:

• Main text

View BVdb publication page

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Wnt-pathway Activating Mutations Are Associated with Resistance to First-line Abiraterone and Enzalutamide in Castration-resistant Prostate Cancer.

European Urology

Isaacsson Velho, Pedro P; Fu, Wei W; Wang, Hao H; Mirkheshti, Nooshin N; Qazi, Fahad F; Lima, Fabiola A S FAS; Shaukat, Farah F; Carducci, Michael A MA; Denmeade, Samuel R SR; Paller, Channing J CJ; Markowski, Mark C MC; Marshall, Catherine H CH; Eisenberger, Mario A MA; Antonarakis, Emmanuel S ES

Publication Date: 2020-01

Variant appearance in text: VHL: L188V

PubMed Link: 31176623

Variant Present in the following documents:

• Main text

View BVdb publication page

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von Hippel-Lindau mutants in renal cell carcinoma are regulated by increased expression of RSUME.

Cell Death & Disease

Tedesco, Lucas L; Elguero, Belén B; Pacin, David Gonilski DG; Senin, Sergio S; Pollak, Cora C; Garcia Marchiñena, Patricio A PA; Jurado, Alberto M AM; Isola, Mariana M; Labanca, María J MJ; Palazzo, Martin M; Yankilevich, Patricio P; Fuertes, Mariana M; Arzt, Eduardo E

Publication Date: 2019-03-19

Variant appearance in text: VHL: L188V

PubMed Link: 30890701

Variant Present in the following documents:

• Main text
• 41419_2019_Article_1507.pdf

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: VHL: 562C>G; Leu188Val

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6
• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 7

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: VHL: L188V; rs5030824

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Hypoxia, angiogenesis, and metabolism in the hereditary kidney cancers.

The Journal Of Clinical Investigation

Chappell, John C JC; Payne, Laura Beth LB; Rathmell, W Kimryn WK

Publication Date: 2019-02-01

Variant appearance in text: VHL: L188V

PubMed Link: 30614813

Variant Present in the following documents:

• Main text

View BVdb publication page

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Exosomal double-stranded DNA as a biomarker for the diagnosis and preoperative assessment of pheochromocytoma and paraganglioma.

Molecular Cancer

Wang, Liang L; Li, Ying Y; Guan, Xin X; Zhao, Jingyuan J; Shen, Liming L; Liu, Jing J

Publication Date: 2018-08-23

Variant appearance in text: VHL: 562C>G

PubMed Link: 30139385

Variant Present in the following documents:

• Main text

View BVdb publication page

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Bilateral Pheochromocytomas in a Patient with Y175C Von Hippel-Lindau Mutation.

Case Reports In Endocrinology

Astapova, Olga O; Biswas, Anindita A; DiMauro, Alessandra A; Moalem, Jacob J; Hammes, Stephen R SR

Publication Date: 2018

Variant appearance in text: VHL: L188V

PubMed Link: 30105105

Variant Present in the following documents:

• Main text
• CRIE2018-8967159.pdf

View BVdb publication page

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Novel genotype-phenotype correlations in five Chinese families with Von Hippel-Lindau disease.

Endocrine Connections

Liu, Qiuli Q; Yuan, Gang G; Tong, Dali D; Liu, Gaolei G; Yi, Yuting Y; Zhang, Jun J; Zhang, Yao Y; Wang, Lin-Ang LA; Wang, Luofu L; Zhang, Dianzheng D; Chen, Rongrong R; Guan, Yanfang Y; Yi, Xin X; Lan, Weihua W; Jiang, Jun J

Publication Date: 2018-07

Variant appearance in text: VHL: Leu188Val

PubMed Link: 29871882

Variant Present in the following documents:

• Main text
• ec-7-870.pdf

View BVdb publication page

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Pathogenic Germline Variants in 10,389 Adult Cancers.

Cell

Huang, Kuan-Lin KL; Mashl, R Jay RJ; Wu, Yige Y; Ritter, Deborah I DI; Wang, Jiayin J; Oh, Clara C; Paczkowska, Marta M; Reynolds, Sheila S; Wyczalkowski, Matthew A MA; Oak, Ninad N; Scott, Adam D AD; Krassowski, Michal M; Cherniack, Andrew D AD; Houlahan, Kathleen E KE; Jayasinghe, Reyka R; Wang, Liang-Bo LB; Zhou, Daniel Cui DC; Liu, Di D; Cao, Song S; Kim, Young Won YW; Koire, Amanda A; McMichael, Joshua F JF; Hucthagowder, Vishwanathan V; Kim, Tae-Beom TB; Hahn, Abigail A; Wang, Chen C; McLellan, Michael D MD; Al-Mulla, Fahd F; Johnson, Kimberly J KJ; , ; Lichtarge, Olivier O; Boutros, Paul C PC; Raphael, Benjamin B; Lazar, Alexander J AJ; Zhang, Wei W; Wendl, Michael C MC; Govindan, Ramaswamy R; Jain, Sanjay S; Wheeler, David D; Kulkarni, Shashikant S; Dipersio, John F JF; Reimand, Jüri J; Meric-Bernstam, Funda F; Chen, Ken K; Shmulevich, Ilya I; Plon, Sharon E SE; Chen, Feng F; Ding, Li L

Publication Date: 2018-04-05

Variant appearance in text: VHL: L188V

PubMed Link: 29625052

Variant Present in the following documents:

• Main text

View BVdb publication page

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Spatial distribution of disease-associated variants in three-dimensional structures of protein complexes.

Oncogenesis

Gress, A A; Ramensky, V V; Kalinina, O V OV

Publication Date: 2017-09-25

Variant appearance in text: VHL: Leu188Val

PubMed Link: 28945216

Variant Present in the following documents:

• Main text
• oncsis201779a.pdf

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: rs5030824

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: 562C>G; Leu188Val

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Management of Gene Variants of Unknown Significance: Analysis Method and Risk Assessment of the VHL Mutation p.P81S (c.241C>T).

Current Genomics

Alosi, Daniela D; Bisgaard, Marie Luise ML; Hemmingsen, Sophie Nowak SN; Krogh, Lotte Nylandsted LN; Mikkelsen, Hanne Birte HB; Binderup, Marie Louise Mølgaard MLM

Publication Date: 2017-02

Variant appearance in text: VHL: L188V

PubMed Link: 28503092

Variant Present in the following documents:

• Main text
• CG-18-93.pdf

View BVdb publication page

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Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.

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

Tarailo-Graovac, Maja M; Zhu, Jing Yun Alice JYA; Matthews, Allison A; van Karnebeek, Clara D M CDM; Wasserman, Wyeth W WW

Publication Date: 2017-12

Variant appearance in text: VHL: L188V; rs5030824

PubMed Link: 28471432

Variant Present in the following documents:

• gim201750x2.xlsx, sheet 3

View BVdb publication page

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VHL promotes immune response against renal cell carcinoma via NF-κB-dependent regulation of VCAM-1.

The Journal Of Cell Biology

Labrousse-Arias, David D; Martínez-Alonso, Emma E; Corral-Escariz, María M; Bienes-Martínez, Raquel R; Berridy, Jaime J; Serrano-Oviedo, Leticia L; Conde, Elisa E; García-Bermejo, María-Laura ML; Giménez-Bachs, José M JM; Salinas-Sánchez, Antonio S AS; Sánchez-Prieto, Ricardo R; Yao, Masahiro M; Lasa, Marina M; Calzada, María J MJ

Publication Date: 2017-03-06

Variant appearance in text: VHL: L188V

PubMed Link: 28235946

Variant Present in the following documents:

• Main text
• JCB_201608024.pdf
• JCB_201608024_sm.pdf

View BVdb publication page

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USP9X destabilizes pVHL and promotes cell proliferation.

Oncotarget

Zhang, Cong C; Peng, Zuohan Z; Zhu, Minglu M; Wang, Penglong P; Du, Xiao X; Li, Xiang X; Liu, Yu Y; Jin, Yan Y; McNutt, Michael A MA; Yin, Yuxin Y

Publication Date: 2016-09-13

Variant appearance in text: VHL: L188V

PubMed Link: 27517496

Variant Present in the following documents:

• Main text
• oncotarget-07-60519-s001.pdf
• oncotarget-07-60519.pdf

View BVdb publication page

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Oxygen-dependent Regulation of Erythropoietin Receptor Turnover and Signaling.

The Journal Of Biological Chemistry

Heir, Pardeep P; Srikumar, Tharan T; Bikopoulos, George G; Bunda, Severa S; Poon, Betty P BP; Lee, Jeffrey E JE; Raught, Brian B; Ohh, Michael M

Publication Date: 2016-04-01

Variant appearance in text: VHL: L188V

PubMed Link: 26846855

Variant Present in the following documents:

• Main text

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: L188V; rs5030824

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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E2-EPF UCP regulates stability and functions of missense mutant pVHL via ubiquitin mediated proteolysis.

Bmc Cancer

Park, Kyeong-Su KS; Kim, Ju Hee JH; Shin, Hee Won HW; Chung, Kyung-Sook KS; Im, Dong-Soo DS; Lim, Jung Hwa JH; Jung, Cho-Rok CR

Publication Date: 2015-10-26

Variant appearance in text: VHL: L188V

PubMed Link: 26503325

Variant Present in the following documents:

• Main text

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: L188V; rs5030824

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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Amplicon sequencing of colorectal cancer: variant calling in frozen and formalin-fixed samples.

Plos One

Betge, Johannes J; Kerr, Grainne G; Miersch, Thilo T; Leible, Svenja S; Erdmann, Gerrit G; Galata, Christian L CL; Zhan, Tianzuo T; Gaiser, Timo T; Post, Stefan S; Ebert, Matthias P MP; Horisberger, Karoline K; Boutros, Michael M

Publication Date: 2015

Variant appearance in text: rs5030824

PubMed Link: 26010451

Variant Present in the following documents:

• pone.0127146.s014.xlsx, sheet 3

View BVdb publication page

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Differential effects of HIF-α isoforms on apoptosis in renal carcinoma cell lines.

Cancer Cell International

Doonachar, Alana A; Gallo, Michael D MD; Doukas, Donald D; Pasricha, Rajiv R; Lantsberg, Igor I; Schoenfeld, Alan R AR

Publication Date: 2015

Variant appearance in text: VHL: L188V

PubMed Link: 25729330

Variant Present in the following documents:

• Main text
• 12935_2015_Article_175.pdf

View BVdb publication page

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Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications

Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP

Publication Date: 2014-12-24

Variant appearance in text: rs5030824

PubMed Link: 25589003

Variant Present in the following documents:

• 40478_2014_167_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

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Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis.

Cancer Research

Couvé, Sophie S; Ladroue, Charline C; Laine, Elodie E; Mahtouk, Karène K; Guégan, Justine J; Gad, Sophie S; Le Jeune, Hélène H; Le Gentil, Marion M; Nuel, Gregory G; Kim, William Y WY; Lecomte, Bernard B; Pagès, Jean-Christophe JC; Collin, Christine C; Lasne, Françoise F; Benusiglio, Patrick R PR; Bressac-de Paillerets, Brigitte B; Feunteun, Jean J; Lazar, Vladimir V; Gimenez-Roqueplo, Anne-Paule AP; Mazure, Nathalie M NM; Dessen, Philippe P; Tchertanov, Luba L; Mole, David R DR; Kaelin, William W; Ratcliffe, Peter P; Richard, Stéphane S; Gardie, Betty B

Publication Date: 2014-11-15

Variant appearance in text: VHL: L188V

PubMed Link: 25371412

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: L188V

PubMed Link: 24969085

Variant Present in the following documents:

• Main text
• supp_ddu321_ddu321supp_table.xlsx, sheet 3
• ddu321.pdf

View BVdb publication page

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RUNX1 and NF-E2 upregulation is not specific for MPNs, but is seen in polycythemic disorders with augmented HIF signaling.

Blood

Kapralova, Katarina K; Lanikova, Lucie L; Lorenzo, Felipe F; Song, Jihyun J; Horvathova, Monika M; Divoky, Vladimir V; Prchal, Josef T JT

Publication Date: 2014-01-16

Variant appearance in text: VHL: L188V

PubMed Link: 24297870

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: L188V

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 1

View BVdb publication page

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