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: 292T>C; Tyr98His

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: rs5030809

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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Hypoxia-inducible factor underlies von Hippel-Lindau disease stigmata.

Elife

Ohh, Michael M; Taber, Cassandra C CC; Ferens, Fraser G FG; Tarade, Daniel D

Publication Date: 2022-08-30

Variant appearance in text: VHL: Y98H

PubMed Link: 36040300

Variant Present in the following documents:

• Main text
• elife-80774.pdf

View BVdb publication page

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Retinal Capillary Hemangioma Leading to a Diagnosis of von Hippel-Lindau Disease in a Patient with Retinopathy of Prematurity.

Case Reports In Ophthalmology

Lozano, Lola P LP; Tucker, Budd A BA; Hinz, Connie J CJ; Boldt, H Culver HC; Binkley, Elaine M EM

Publication Date: 2022

Variant appearance in text: VHL: Tyr98His

PubMed Link: 35702652

Variant Present in the following documents:

• Main text
• cop-0013-0323.pdf

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: 292T>C; Tyr98His

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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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: 292T>C; Tyr98His

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: Y98H

PubMed Link: 35388293

Variant Present in the following documents:

• Main text
• fendo-13-854365.pdf

View BVdb publication page

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Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service.

British Journal Of Cancer

Maher, Eamonn R ER; Adlard, Julian J; Barwell, Julian J; Brady, Angela F AF; Brennan, Paul P; Cook, Jackie J; Crawford, Gillian S GS; Dabir, Tabib T; Davidson, Rosemarie R; Dyer, Rebecca R; Harrison, Rachel R; Forde, Claire C; Halliday, Dorothy D; Hanson, Helen H; Hay, Eleanor E; Higgs, Jenny J; Jones, Mari M; Lalloo, Fiona F; Miedzybrodzka, Zosia Z; Ong, Kai Ren KR; Pelz, Frauke F; Ruddy, Deborah D; Snape, Katie K; Whitworth, James J; Sandford, Richard N RN

Publication Date: 2022-05

Variant appearance in text: VHL: Tyr98His

PubMed Link: 35184155

Variant Present in the following documents:

• Main text
• 41416_2022_Article_1724.pdf

View BVdb publication page

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Deubiquitylase OTUD6B stabilizes the mutated pVHL and suppresses cell migration in clear cell renal cell carcinoma.

Cell Death & Disease

Guo, Kai K; Wei, Yinghua Y; Wang, Ze Z; Zhang, Xiaoli X; Zhang, Xin X; Liu, Xinxin X; Wu, Wenyong W; Wu, Zhengsheng Z; Zhang, Lingqiang L; Cui, Chun-Ping CP

Publication Date: 2022-02-02

Variant appearance in text: VHL: Y98H

PubMed Link: 35110537

Variant Present in the following documents:

• Main text
• 41419_2021_Article_4135.pdf

View BVdb publication page

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Deubiquitylase OTUD6B stabilizes the mutated pVHL and suppresses cell migration in clear cell renal cell carcinoma.

Cell Death & Disease

Guo, Kai K; Wei, Yinghua Y; Wang, Ze Z; Zhang, Xiaoli X; Zhang, Xin X; Liu, Xinxin X; Wu, Wenyong W; Wu, Zhengsheng Z; Zhang, Lingqiang L; Cui, Chun-Ping CP

Publication Date: 2022-02-02

Variant appearance in text: VHL: Y98H

PubMed Link: 35110537

Variant Present in the following documents:

• Main text
• 41419_2021_Article_4135.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: 292T>C

PubMed Link: 34923986

Variant Present in the following documents:

• 12935_2021_Article_2386.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: Y98H

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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VHL suppresses RAPTOR and inhibits mTORC1 signaling in clear cell renal cell carcinoma.

Scientific Reports

Ganner, Athina A; Gehrke, Christina C; Klein, Marinella M; Thegtmeier, Lena L; Matulenski, Tanja T; Wingendorf, Laura L; Wang, Lu L; Pilz, Felicitas F; Greidl, Lars L; Meid, Lisa L; Kotsis, Fruzsina F; Walz, Gerd G; Frew, Ian J IJ; Neumann-Haefelin, Elke E

Publication Date: 2021-07-21

Variant appearance in text: VHL: Y98H

PubMed Link: 34290272

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: Y98H

PubMed Link: 33947839

Variant Present in the following documents:

• Main text

View BVdb publication page

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Seven Novel Genes Related to Cell Proliferation and Migration of VHL-Mutated Pheochromocytoma.

Frontiers In Endocrinology

Gao, Shuai S; Liu, Longfei L; Li, Zhuolin Z; Pang, Yingxian Y; Shi, Jiaqi J; Zhu, Feizhou F

Publication Date: 2021

Variant appearance in text: VHL: 292T>C; Y98H

PubMed Link: 33828526

Variant Present in the following documents:

• Main text
• fendo-12-598656.pdf

View BVdb publication page

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Understanding protein structural changes for oncogenic missense variants.

Heliyon

Hernandez, Rolando R; Facelli, Julio C JC

Publication Date: 2021-01

Variant appearance in text: VHL: 292T>C; Tyr98His

PubMed Link: 33553733

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein.

Plos One

Fields, Francisco R FR; Suresh, Niraja N; Hiller, Morgan M; Freed, Stefan D SD; Haldar, Kasturi K; Lee, Shaun W SW

Publication Date: 2020

Variant appearance in text: VHL: Y98H

PubMed Link: 33151962

Variant Present in the following documents:

• Main text
• pone.0234100.pdf

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: Tyr98His

PubMed Link: 32869749

Variant Present in the following documents:

• Main text
• EC-20-0208.pdf

View BVdb publication page

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: VHL: 292T>C; Tyr98His

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 3
• aba1773_Data_file_S1.xlsx, sheet 4
• aba1773_Data_file_S1.xlsx, sheet 2

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: 292T>C; Y98H

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: Y98H

PubMed Link: 32655936

Variant Present in the following documents:

• Main text

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: Y98H

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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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: Y98H

PubMed Link: 31620170

Variant Present in the following documents:

• Main text

View BVdb publication page

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Von Hippel-Lindau "Black Forest" mutation inherited in a large Chinese family.

Gland Surgery

Liu, Peihua P; Zhu, Feizhou F; Li, Minghao M; Dube, Daud Athanasius DA; Liu, Qianqian Q; Wang, Cikui C; Xiao, Qiao Q; Zhang, Liang L; Gao, Shuai S; Li, Zhuolin Z; Zhang, Bo B; Liu, Jing J; Liu, Longfei L; Chen, Xiang X

Publication Date: 2019-08

Variant appearance in text: VHL: Y98H

PubMed Link: 31538058

Variant Present in the following documents:

• Main text

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: 292T>C; Y98H

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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Total proteome turbidity assay for tracking global protein aggregation in the natural cellular environment.

Journal Of Biological Methods

Shmueli, Merav D MD; Hizkiahou, Noa N; Peled, Sivan S; Gazit, Ehud E; Segal, Daniel D

Publication Date: 2017

Variant appearance in text: VHL: Y98H

PubMed Link: 31453227

Variant Present in the following documents:

• Main text
• jbm-4-2-e69.pdf

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: 292T>C; Tyr98His

PubMed Link: 31397861

Variant Present in the following documents:

• jamanetwopen-2-e198898-s001.pdf

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: 292T>C; Tyr98His

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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Genotype-phenotype relations of the von Hippel-Lindau tumor suppressor inferred from a large-scale analysis of disease mutations and interactors.

Plos Computational Biology

Minervini, Giovanni G; Quaglia, Federica F; Tabaro, Francesco F; Tosatto, Silvio C E SCE

Publication Date: 2019-04

Variant appearance in text: VHL: Tyr98His

PubMed Link: 30943211

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: VHL: 292T>C; Tyr98His

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Ubiquitination of MAP1LC3B by pVHL is associated with autophagy and cell death in renal cell carcinoma.

Cell Death & Disease

Kang, Hyun Mi HM; Noh, Kyung Hee KH; Chang, Tae Kyung TK; Park, Dongmin D; Cho, Hyun-Soo HS; Lim, Jung Hwa JH; Jung, Cho-Rok CR

Publication Date: 2019-03-22

Variant appearance in text: VHL: Y98H

PubMed Link: 30902965

Variant Present in the following documents:

• Main text
• 41419_2019_Article_1520.pdf

View BVdb publication page

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Whole Exome Sequencing Uncovers Germline Variants of Cancer-Related Genes in Sporadic Pheochromocytoma.

International Journal Of Genomics

Urbini, Milena M; Nannini, Margherita M; Astolfi, Annalisa A; Indio, Valentina V; Vicennati, Valentina V; De Luca, Matilde M; Tarantino, Giuseppe G; Corso, Federica F; Saponara, Maristella M; Gatto, Lidia L; Santini, Donatella D; Di Dalmazi, Guido G; Pagotto, Uberto U; Pasquali, Renato R; Pession, Andrea A; Biasco, Guido G; Pantaleo, Maria A MA

Publication Date: 2018

Variant appearance in text: VHL: 292T>C; Y98H; rs5030809

PubMed Link: 30211214

Variant Present in the following documents:

• Main text
• IJG2018-6582014.pdf
• 6582014.f1.xlsx, sheet 1

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: Tyr98His

PubMed Link: 29871882

Variant Present in the following documents:

• Main text
• ec-7-870.pdf

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: Y98H

PubMed Link: 29294023

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: Tyr98His

PubMed Link: 28945216

Variant Present in the following documents:

• Main text
• oncsis201779a.pdf

View BVdb publication page

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VHL deficiency augments anthracycline sensitivity of clear cell renal cell carcinomas by down-regulating ALDH2.

Nature Communications

Gao, Yao-Hui YH; Wu, Zhao-Xia ZX; Xie, Li-Qi LQ; Li, Cai-Xia CX; Mao, Yu-Qin YQ; Duan, Yan-Tao YT; Han, Bing B; Han, San-Feng SF; Yu, Yun Y; Lu, Hao-Jie HJ; Yang, Peng-Yuan PY; Xu, Tian-Rui TR; Xia, Jing-Lin JL; Chen, Guo-Qiang GQ; Wang, Li-Shun LS

Publication Date: 2017-06-15

Variant appearance in text: VHL: Y98H

PubMed Link: 28643803

Variant Present in the following documents:

• Main text
• ncomms15337-s1.pdf
• ncomms15337.pdf

View BVdb publication page

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Targeting the RhoGTPase/ROCK pathway for the treatment of VHL/HIF pathway-driven cancers.

Small Gtpases

Thompson, Jordan M JM; Landman, Jaime J; Razorenova, Olga V OV

Publication Date: 2020-01

Variant appearance in text: VHL: Y98H

PubMed Link: 28632992

Variant Present in the following documents:

• Main text

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: 292T>C; Tyr98His

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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The importance of regulatory ubiquitination in cancer and metastasis.

Cell Cycle (Georgetown, Tex.)

Gallo, L H LH; Ko, J J; Donoghue, D J DJ

Publication Date: 2017-04-03

Variant appearance in text: VHL: Y98H

PubMed Link: 28166483

Variant Present in the following documents:

• Main text

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: Tyr98His

PubMed Link: 28052007

Variant Present in the following documents:

• Main text
• oncotarget-08-10199.pdf

View BVdb publication page

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Prevalence, birth incidence, and penetrance of von Hippel-Lindau disease (vHL) in Denmark.

European Journal Of Human Genetics : Ejhg

Binderup, Marie Louise Mølgaard ML; Galanakis, Michael M; Budtz-Jørgensen, Esben E; Kosteljanetz, Michael M; Luise Bisgaard, Marie M

Publication Date: 2017-02

Variant appearance in text: VHL: 292T>C

PubMed Link: 27966541

Variant Present in the following documents:

• Main text

View BVdb publication page

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Von Hippel-Lindau Disease.

Journal Of Pediatric Genetics

Findeis-Hosey, Jennifer J JJ; McMahon, Kelly Q KQ; Findeis, Sarah K SK

Publication Date: 2016-06

Variant appearance in text: VHL: Y98H

PubMed Link: 27617152

Variant Present in the following documents:

• Main text

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: Y98H

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: Y98H; rs5030809

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Bioinformatic Challenges in Clinical Diagnostic Application of Targeted Next Generation Sequencing: Experience from Pheochromocytoma.

Plos One

Crona, Joakim J; Ljungström, Viktor V; Welin, Staffan S; Walz, Martin K MK; Hellman, Per P; Björklund, Peyman P

Publication Date: 2015

Variant appearance in text: VHL: Tyr98His

PubMed Link: 26230854

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: Y98H; rs5030809

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

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Profiling of somatic mutations in phaeochromocytoma and paraganglioma by targeted next generation sequencing analysis.

International Journal Of Endocrinology

Luchetti, Andrea A; Walsh, Diana D; Rodger, Fay F; Clark, Graeme G; Martin, Tom T; Irving, Richard R; Sanna, Mario M; Yao, Masahiro M; Robledo, Mercedes M; Neumann, Hartmut P H HP; Woodward, Emma R ER; Latif, Farida F; Abbs, Stephen S; Martin, Howard H; Maher, Eamonn R ER

Publication Date: 2015

Variant appearance in text: VHL: 292T>C

PubMed Link: 25883647

Variant Present in the following documents:

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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: Y98H

PubMed Link: 25729330

Variant Present in the following documents:

• Main text
• 12935_2015_Article_175.pdf

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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: Y98H

PubMed Link: 25371412

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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: Y98H

PubMed Link: 24969085

Variant Present in the following documents:

• Main text

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