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: 250G>T; Val84Leu

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: V84L

PubMed Link: 36040300

Variant Present in the following documents:

• Main text
• elife-80774.pdf

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Pheochromocytomas and paragangliomas in von Hippel-Lindau disease: not a needle in a haystack.

Endocrine Connections

Castro-Teles, João J; Sousa-Pinto, Bernardo B; Rebelo, Sandra S; Pignatelli, Duarte D

Publication Date: 2021-10-27

Variant appearance in text: VHL: V84L

PubMed Link: 34596579

Variant Present in the following documents:

• EC-21-0294.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: 250G>T; V84L

PubMed Link: 32738923

Variant Present in the following documents:

• 12967_2020_2449_MOESM2_ESM.xlsx, sheet 1

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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: V84L

PubMed Link: 32655936

Variant Present in the following documents:

• Main text

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Genetic screening for monogenic hypertension in hypertensive individuals in a clinical setting.

Journal Of Medical Genetics

Bao, Minghui M; Li, Ping P; Li, Qifu Q; Chen, Hui H; Zhong, Ying Y; Li, Shuangyue S; Jin, Ling L; Wang, Wenjie W; Chen, Zhenzhen Z; Zhong, Jiuchang J; Geng, Bin B; Fan, Yuxin Y; Yang, Xinchun X; Cai, Jun J

Publication Date: 2020-08

Variant appearance in text: VHL: 250G>T; Val84Leu

PubMed Link: 32561571

Variant Present in the following documents:

• Main text
• jmedgenet-2019-106145.pdf

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New Insights Into Pheochromocytoma Surveillance of Young Patients With VHL Missense Mutations.

Journal Of The Endocrine Society

Fagundes, Gustavo F C GFC; Petenuci, Janaina J; Lourenco, Delmar M DM; Trarbach, Ericka B EB; Pereira, Maria Adelaide A MAA; Correa D'Eur, Joya Emilie JE; Hoff, Ana O AO; Lerario, Antonio M AM; Zerbini, Maria Claudia N MCN; Siqueira, Sheila S; Yamauchi, Fernando F; Srougi, Victor V; Tanno, Fabio Y FY; Chambo, Jose Luis JL; Latronico, Ana Claudia AC; Mendonca, Berenice B BB; Fragoso, Maria Candida B V MCBV; Almeida, Madson Q MQ

Publication Date: 2019-09-01

Variant appearance in text: VHL: Val84Leu

PubMed Link: 31528828

Variant Present in the following documents:

• Main text
• js.2019-00225.pdf

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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: 250G>T; Val84Leu

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

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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: 250G>T; Val84Leu

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Molecular Characterization of a Novel Germline VHL Mutation by Extensive In Silico Analysis in an Indian Family with Von Hippel-Lindau Disease.

Genetics Research International

Arunachal, Gautham G; Pachat, Divya D; Doss, C George Priya CG; Danda, Sumita S; Pai, Rekha R; Ebenazer, Andrew A

Publication Date: 2016

Variant appearance in text: VHL: V84L

PubMed Link: 27069690

Variant Present in the following documents:

• GRI2016-9872594.pdf

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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: V84L

PubMed Link: 26846855

Variant Present in the following documents:

• Main text

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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: V84L; rs5030827

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: V84L; rs5030827

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1
• 12859_2015_673_MOESM2_ESM.xls, 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: V84L

PubMed Link: 24969085

Variant Present in the following documents:

• supp_ddu321_ddu321supp_table.xlsx, sheet 3
• supp_ddu321_ddu321supp_table.xlsx, sheet 2

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P.Arg82Leu von Hippel-Lindau (VHL) gene mutation among three members of a family with familial bilateral pheochromocytoma in India: molecular analysis and in silico characterization.

Plos One

John, Anulekha Mary AM; C, George Priya Doss GP; Ebenazer, Andrew A; Seshadri, Mandalam Subramaniam MS; Nair, Aravindan A; Rajaratnam, Simon S; Pai, Rekha R

Publication Date: 2013

Variant appearance in text: VHL: V84L

PubMed Link: 23626751

Variant Present in the following documents:

• Main text
• pone.0061908.pdf

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Angiomyolipoma have common mutations in TSC2 but no other common genetic events.

Plos One

Qin, Wei W; Bajaj, Vineeta V; Malinowska, Izabela I; Lu, Xin X; MacConaill, Laura L; Wu, Chin-Lee CL; Kwiatkowski, David J DJ

Publication Date: 2011

Variant appearance in text: VHL: 250G>T; Val84Leu

PubMed Link: 21949787

Variant Present in the following documents:

• Main text

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Proteomic dissection of the von Hippel-Lindau (VHL) interactome.

Journal Of Proteome Research

Lai, Yanlai Y; Song, Meihua M; Hakala, Kevin K; Weintraub, Susan T ST; Shiio, Yuzuru Y

Publication Date: 2011-11-04

Variant appearance in text: VHL: V84L

PubMed Link: 21942715

Variant Present in the following documents:

• Main text

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Inactivation of the von Hippel-Lindau tumour suppressor gene induces Neuromedin U expression in renal cancer cells.

Molecular Cancer

Harten, Sarah K SK; Esteban, Miguel A MA; Shukla, Deepa D; Ashcroft, Margaret M; Maxwell, Patrick H PH

Publication Date: 2011-07-26

Variant appearance in text: VHL: V84L

PubMed Link: 21791076

Variant Present in the following documents:

• Main text
• 1476-4598-10-89.pdf

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Quantitative proteomics identifies the Myb-binding protein p160 as a novel target of the von Hippel-Lindau tumor suppressor.

Plos One

Lai, Yanlai Y; Qiao, Mei M; Song, Meihua M; Weintraub, Susan T ST; Shiio, Yuzuru Y

Publication Date: 2011-02-28

Variant appearance in text: VHL: V84L

PubMed Link: 21386990

Variant Present in the following documents:

• Main text

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Research resource: Transcriptional profiling reveals different pseudohypoxic signatures in SDHB and VHL-related pheochromocytomas.

Molecular Endocrinology (Baltimore, Md.)

López-Jiménez, Elena E; Gómez-López, Gonzalo G; Leandro-García, L Javier LJ; Muñoz, Iván I; Schiavi, Francesca F; Montero-Conde, Cristina C; de Cubas, Aguirre A AA; Ramires, Ricardo R; Landa, Iñigo I; Leskelä, Susanna S; Maliszewska, Agnieszka A; Inglada-Pérez, Lucía L; de la Vega, Leticia L; Rodríguez-Antona, Cristina C; Letón, Rocío R; Bernal, Carmen C; de Campos, José M JM; Diez-Tascón, Cristina C; Fraga, Mario F MF; Boullosa, Cesar C; Pisano, David G DG; Opocher, Giuseppe G; Robledo, Mercedes M; Cascón, Alberto A

Publication Date: 2010-12

Variant appearance in text: VHL: Val84Leu

PubMed Link: 20980436

Variant Present in the following documents:

• Main text

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Clinical and functional properties of novel VHL mutation (X214L) consistent with Type 2A phenotype and low risk of renal cell carcinoma.

Clinical Genetics

Sorrell, A D AD; Lee, S S; Stolle, C C; Ellenhorn, J J; Grix, A A; Kaelin, W G WG; Weitzel, J N JN

Publication Date: 2011-06

Variant appearance in text: VHL: V84L

PubMed Link: 20560986

Variant Present in the following documents:

• cge0079-0539.pdf

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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: V84L

PubMed Link: 19602254

Variant Present in the following documents:

• Main text
• 1471-2407-9-229.pdf

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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: 250G>T; Val84Leu

PubMed Link: 19270817

Variant Present in the following documents:

• jkms-24-77.pdf

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VHL mutations linked to type 2C von Hippel-Lindau disease cause extensive structural perturbations in pVHL.

The Journal Of Biological Chemistry

Knauth, Katja K; Cartwright, Edward E; Freund, Stefan S; Bycroft, Mark M; Buchberger, Alexander A

Publication Date: 2009-04-17

Variant appearance in text: VHL: V84L

PubMed Link: 19228690

Variant Present in the following documents:

• Main text

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Molecular imaging of hypoxia-inducible factor 1 alpha and von Hippel-Lindau interaction in mice.

Molecular Imaging

Choi, Clara Y H CY; Chan, Denise A DA; Paulmurugan, Ramasamy R; Sutphin, Patrick D PD; Le, Quynh-Thu QT; Koong, Albert C AC; Zundel, Wayne W; Gambhir, Sanjiv S SS; Giaccia, Amato J AJ

Publication Date: 2008

Variant appearance in text: VHL: V84L

PubMed Link: 19123984

Variant Present in the following documents:

• Main text

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Regulation of renal epithelial tight junctions by the von Hippel-Lindau tumor suppressor gene involves occludin and claudin 1 and is independent of E-cadherin.

Molecular Biology Of The Cell

Harten, Sarah K SK; Shukla, Deepa D; Barod, Ravi R; Hergovich, Alexander A; Balda, Maria S MS; Matter, Karl K; Esteban, Miguel A MA; Maxwell, Patrick H PH

Publication Date: 2009-02

Variant appearance in text: VHL: V84L

PubMed Link: 19073886

Variant Present in the following documents:

• Main text

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The von Hippel-Lindau tumor suppressor protein and Egl-9-Type proline hydroxylases regulate the large subunit of RNA polymerase II in response to oxidative stress.

Molecular And Cellular Biology

Mikhaylova, Olga O; Ignacak, Monika L ML; Barankiewicz, Teresa J TJ; Harbaugh, Svetlana V SV; Yi, Ying Y; Maxwell, Patrick H PH; Schneider, Martin M; Van Geyte, Katie K; Carmeliet, Peter P; Revelo, Monica P MP; Wyder, Michael M; Greis, Kenneth D KD; Meller, Jarek J; Czyzyk-Krzeska, Maria F MF

Publication Date: 2008-04

Variant appearance in text: VHL: V84L

PubMed Link: 18285459

Variant Present in the following documents:

• Main text

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Distinct aerobic and hypoxic mechanisms of HIF-alpha regulation by CSN5.

Genes & Development

Bemis, Lynne L; Chan, Denise A DA; Finkielstein, Carla V CV; Qi, Lin L; Sutphin, Patrick D PD; Chen, Xiaojiang X; Stenmark, Kurt K; Giaccia, Amato J AJ; Zundel, Wayne W

Publication Date: 2004-04-01

Variant appearance in text: VHL: V84L

PubMed Link: 15082527

Variant Present in the following documents:

• Main text

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