Publications:

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Central nervous system hemangioblastomas in von Hippel-Lindau disease: Total growth rate and risk of developing new lesions not associated with circulating VEGF levels.

Plos One

Sundblom, Jimmy J; Skare, Tor Persson TP; Holm, Olivia O; Welin, Staffan S; Braun, Madelene M; Nilsson, Pelle P; Enblad, Per P; Sjöström, Elisabet Ohlin EO; Smits, Anja A

Publication Date: 2022

Variant appearance in text: VHL: Cys162Trp

PubMed Link: 36441756

Variant Present in the following documents:

• Main text
• pone.0278166.pdf

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Blockade of β2-Adrenergic Receptor Reduces Inflammation and Oxidative Stress in Clear Cell Renal Cell Carcinoma.

International Journal Of Molecular Sciences

Albiñana, Virginia V; Recio-Poveda, Lucía L; González-Peramato, Pilar P; Martinez-Piñeiro, Luis L; Botella, Luisa María LM; Cuesta, Angel M AM

Publication Date: 2022-01-25

Variant appearance in text: VHL: 486C>G; Cys162Trp

PubMed Link: 35163250

Variant Present in the following documents:

• Main text
• ijms-23-01325.pdf

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Blockade of β2-Adrenergic Receptor Reduces Inflammation and Oxidative Stress in Clear Cell Renal Cell Carcinoma.

International Journal Of Molecular Sciences

Albiñana, Virginia V; Recio-Poveda, Lucía L; González-Peramato, Pilar P; Martinez-Piñeiro, Luis L; Botella, Luisa María LM; Cuesta, Angel M AM

Publication Date: 2022-01-25

Variant appearance in text: VHL: 486C>G; Cys162Trp

PubMed Link: 35163250

Variant Present in the following documents:

• Main text
• ijms-23-01325.pdf

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Retinal Glial Cells in Von Hippel-Lindau Disease: A Novel Approach in the Pathophysiology of Retinal Hemangioblastoma.

Cancers

Pilotto, Elisabetta E; Midena, Giulia G; Torresin, Tommaso T; De Mojà, Gilda G; Bacelle, Maria Laura ML; Ferrara, Alfonso Massimiliano AM; Zovato, Stefania S; Midena, Edoardo E

Publication Date: 2021-12-30

Variant appearance in text: VHL: 486C>G; Cys162Trp

PubMed Link: 35008334

Variant Present in the following documents:

• Main text

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Retinal Glial Cells in Von Hippel-Lindau Disease: A Novel Approach in the Pathophysiology of Retinal Hemangioblastoma.

Cancers

Pilotto, Elisabetta E; Midena, Giulia G; Torresin, Tommaso T; De Mojà, Gilda G; Bacelle, Maria Laura ML; Ferrara, Alfonso Massimiliano AM; Zovato, Stefania S; Midena, Edoardo E

Publication Date: 2021-12-30

Variant appearance in text: VHL: 486C>G; Cys162Trp

PubMed Link: 35008334

Variant Present in the following documents:

• Main text

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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: 486C>G

PubMed Link: 34923986

Variant Present in the following documents:

• 12935_2021_Article_2386.pdf

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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: 486C>G; Cys162Trp

PubMed Link: 34916234

Variant Present in the following documents:

• jmedgenet-2021-108216supp006.pdf

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Risk prediction for metastasis of clear cell renal cell carcinoma using digital multiplex ligation-dependent probe amplification.

Cancer Science

Yoshikawa, Yoshie Y; Yamada, Yusuke Y; Emi, Mitsuru M; Atanesyan, Lilit L; Smout, Jan J; de Groot, Karel K; Savola, Suvi S; Nakanishi-Shinkai, Yukako Y; Kanematsu, Akihiro A; Nojima, Michio M; Ohmuraya, Masaki M; Hashimoto-Tamaoki, Tomoko T; Yamamoto, Shingo S

Publication Date: 2022-01

Variant appearance in text: VHL: C162W

PubMed Link: 34687579

Variant Present in the following documents:

• CAS-113-297-s001.xlsx, sheet 3

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Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Thoracic Cancer

Asselta, Rosanna R; Di Tommaso, Luca L; Perrino, Matteo M; Destro, Annarita A; Giordano, Laura L; Cardamone, Giulia G; Rubino, Luca L; Santoro, Armando A; Duga, Stefano S; Zucali, Paolo Andrea PA

Publication Date: 2021-05

Variant appearance in text: VHL: 486C>G; C162W

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

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Genetic and epigenetic profiling indicates the proximal tubule origin of renal cancers in end-stage renal disease.

Cancer Science

Ishihara, Hiroki H; Yamashita, Satoshi S; Liu, Yu-Yu YY; Hattori, Naoko N; El-Omar, Omar O; Ikeda, Takashi T; Fukuda, Hironori H; Yoshida, Kazuhiko K; Takagi, Toshio T; Taneda, Sekiko S; Kondo, Tsunenori T; Nagashima, Yoji Y; Tanabe, Kazunari K; Ushijima, Toshikazu T

Publication Date: 2020-11

Variant appearance in text: VHL: 486C>G; Cys162Trp

PubMed Link: 32860304

Variant Present in the following documents:

• Main text
• CAS-111-4276.pdf

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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: 486C>G; C162W

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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Ancestry-specific predisposing germline variants in cancer.

Genome Medicine

Oak, Ninad N; Cherniack, Andrew D AD; Mashl, R Jay RJ; , ; Hirsch, Fred R FR; Ding, Li L; Beroukhim, Rameen R; Gümüş, Zeynep H ZH; Plon, Sharon E SE; Huang, Kuan-Lin KL

Publication Date: 2020-05-29

Variant appearance in text: VHL: C162W

PubMed Link: 32471518

Variant Present in the following documents:

• Main text
• 13073_2020_Article_744.pdf

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The Efficacy and Safety of Tyrosine Kinase Inhibitors for Von Hippel-Lindau Disease: A Retrospective Study of 32 Patients.

Frontiers In Oncology

Ma, Kaifang K; Hong, Baoan B; Zhou, Jingcheng J; Gong, Yanqing Y; Wang, Jiangyi J; Liu, Shengjie S; Peng, Xiang X; Zhou, Bowen B; Zhang, Jiufeng J; Xie, Haibiao H; Zhang, Kenan K; Li, Lei L; Cai, Desheng D; Wang, Zixin Z; Cai, Lin L; Gong, Kan K

Publication Date: 2019

Variant appearance in text: VHL: C162W

PubMed Link: 31737565

Variant Present in the following documents:

• Main text
• fonc-09-01122.pdf

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Frequent Mutations of VHL Gene and the Clinical Phenotypes in the Largest Chinese Cohort With Von Hippel-Lindau Disease.

Frontiers In Genetics

Hong, Baoan B; Ma, Kaifang K; Zhou, Jingcheng J; Zhang, Jiufeng J; Wang, Jiangyi J; Liu, Shengjie S; Zhang, Zhongyuan Z; Cai, Lin L; Zhang, Ning N; Gong, Kan K

Publication Date: 2019

Variant appearance in text: VHL: 486C>G; Cys162Trp

PubMed Link: 31620170

Variant Present in the following documents:

• Main text
• fgene-10-00867.pdf

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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: 486C>G; C162W

PubMed Link: 28775315

Variant Present in the following documents:

• 41467_2017_289_MOESM7_ESM.xlsx, sheet 1

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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: 486C>G; Cys162Trp

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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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: C162W; rs5030622

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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: C162W; rs5030622

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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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: C162W

PubMed Link: 25563310

Variant Present in the following documents:

• CMJ-128-32.pdf

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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: C162W

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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The Roles of VHL-Dependent Ubiquitination in Signaling and Cancer.

Frontiers In Oncology

Zhang, Qing Q; Yang, Haifeng H

Publication Date: 2012

Variant appearance in text: VHL: C162W

PubMed Link: 22649785

Variant Present in the following documents:

• Main text
• fonc-02-00035.pdf

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Whole-exome sequencing of neoplastic cysts of the pancreas reveals recurrent mutations in components of ubiquitin-dependent pathways.

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

Wu, Jian J; Jiao, Yuchen Y; Dal Molin, Marco M; Maitra, Anirban A; de Wilde, Roeland F RF; Wood, Laura D LD; Eshleman, James R JR; Goggins, Michael G MG; Wolfgang, Christopher L CL; Canto, Marcia I MI; Schulick, Richard D RD; Edil, Barish H BH; Choti, Michael A MA; Adsay, Volkan V; Klimstra, David S DS; Offerhaus, G Johan A GJ; Klein, Alison P AP; Kopelovich, Levy L; Carter, Hannah H; Karchin, Rachel R; Allen, Peter J PJ; Schmidt, C Max CM; Naito, Yoshiki Y; Diaz, Luis A LA; Kinzler, Kenneth W KW; Papadopoulos, Nickolas N; Hruban, Ralph H RH; Vogelstein, Bert B

Publication Date: 2011-12-27

Variant appearance in text: VHL: C162W

PubMed Link: 22158988

Variant Present in the following documents:

• Main text

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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: C162W

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

View BVdb publication page

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Candidate single nucleotide polymorphism markers for arsenic responsiveness of protein targets.

Bioinformatics And Biology Insights

Isokpehi, Raphael D RD; Cohly, Hari H P HH; Anyanwu, Matthew N MN; Rajnarayanan, Rajendram V RV; Tchounwou, Paul B PB; Udensi, Udensi K UK; Graham-Evans, Barbara E BE

Publication Date: 2010-10-11

Variant appearance in text: VHL: C162W

PubMed Link: 20981267

Variant Present in the following documents:

• BBI-4-supplementary.xls, sheet 3

View BVdb publication page

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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: Cys162Trp

PubMed Link: 20233476

Variant Present in the following documents:

• Main text

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Improved detection of germline mutations in Korean VHL patients by multiple ligation-dependent probe amplification analysis.

Journal Of Korean Medical Science

Cho, Hyun-Jung HJ; Ki, Chang-Seok CS; Kim, Jong-Won JW

Publication Date: 2009-02

Variant appearance in text: VHL: 486C>G; C162W

PubMed Link: 19270817

Variant Present in the following documents:

• jkms-24-77.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: C162W

PubMed Link: 16669786

Variant Present in the following documents:

• Main text

View BVdb publication page

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