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Select item 69024641.

Novel gene mutation in von Hippel-Lindau disease – a report of two cases

Jitian Wang, Wenjie Cao, Zhaoxia Wang, Hong Zhu

BMC Med Genet. 2019; 20: 194. Published online 2019 Dec 10. doi: 10.1186/s12881-019-0930-8

PMCID:: PMC6902464

Article PDF–2.7M

Select item 67426462.

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

Robert Fragoza, Jishnu Das, Shayne D. Wierbowski, Jin Liang, Tina N. Tran, Siqi Liang, Juan F. Beltran, Christen A. Rivera-Erick, Kaixiong Ye, Ting-Yi Wang, Li Yao, Matthew Mort, Peter D. Stenson, David N. Cooper, Xiaomu Wei, Alon Keinan, John C. Schimenti, Andrew G. Clark, Haiyuan Yu

Nat Commun. 2019; 10: 4141. Published online 2019 Sep 12. doi: 10.1038/s41467-019-11959-3

PMCID:: PMC6742646

Article PDF–1.2M

Select item 415373.

Characterization of the VHL tumor suppressor gene product: localization, complex formation, and the effect of natural inactivating mutations.

D R Duan, J S Humphrey, D Y Chen, Y Weng, J Sukegawa, S Lee, J R Gnarra, W M Linehan, R D Klausner

Proc Natl Acad Sci U S A. 1995 Jul 3; 92(14): 6459–6463. doi: 10.1073/pnas.92.14.6459

PMCID:: PMC41537

Summary Page Browse PDF–1.8M

Select item 70454884.

Case report: a synonymous VHL mutation (c.414A > G, p.Pro138Pro) causes pathogenic familial hemangioblastoma through dysregulated splicing

Fang Liu, Barbara Calhoun, Md. Suhail Alam, Miaomiao Sun, Xuechun Wang, Chao Zhang, Kasturi Haldar, Xin Lu

BMC Med Genet. 2020; 21: 42. Published online 2020 Feb 27. doi: 10.1186/s12881-020-0976-7

PMCID:: PMC7045488

Article PDF–980K

Select item 69277735.

Inter-laboratory proficiency testing scheme for tumour next-generation sequencing in Ontario: a pilot study

T. Spence, N. Stickle, C. Yu, H. Chow, H. Feilotter, B. Lo, E. McCready, B. Sadikovic, L.L. Siu, P.L. Bedard, T.L. Stockley

Curr Oncol. 2019 Dec; 26(6): e717–e732. Published online 2019 Dec 1. doi: 10.3747/co.26.5379

PMCID:: PMC6927773

Article PDF–823K

Select item 67323166.

Whole‐exome sequencing and immunohistochemistry findings in von Hippel–Lindau disease

Xiaopeng Guo, Lu Gao, Xiafei Hong, Dan Guo, Wenyu Di, Xiaoman Wang, Zhiqin Xu, Bing Xing

Mol Genet Genomic Med. 2019 Sep; 7(9): e880. Published online 2019 Jul 17. doi: 10.1002/mgg3.880

PMCID:: PMC6732316

Article PDF–1.7M

Select item 67230027.

Von Hippel-Lindau “Black Forest” mutation inherited in a large Chinese family

Peihua Liu, Feizhou Zhu, Minghao Li, Daud Athanasius Dube, Qianqian Liu, Cikui Wang, Qiao Xiao, Liang Zhang, Shuai Gao, Zhuolin Li, Bo Zhang, Jing Liu, Longfei Liu, Xiang Chen

Gland Surg. 2019 Aug; 8(4): 343–353. doi: 10.21037/gs.2019.08.03

PMCID:: PMC6723002

Article PDF–3.4M

Select item 56826908.

Plasminogen kringle 5 suppresses gastric cancer via regulating HIF-1α and GRP78

Shuhuan Fang, Honghai Hong, Lei Li, Dan He, Zumin Xu, Shaoyuan Zuo, Jing Han, Qiyuan Wu, Zhiyu Dai, Weibin Cai, Jianxing Ma, Chunkui Shao, Guoquan Gao, Xia Yang

Cell Death Dis. 2017 Oct; 8(10): e3144. Published online 2017 Oct 26. doi: 10.1038/cddis.2017.528

PMCID:: PMC5682690

Article PDF–2.9M

Select item 53265509.

Development and validation of a 36-gene sequencing assay for hereditary cancer risk assessment

Valentina S. Vysotskaia, Gregory J. Hogan, Genevieve M. Gould, Xin Wang, Alex D. Robertson, Kevin R. Haas, Mark R. Theilmann, Lindsay Spurka, Peter V. Grauman, Henry H. Lai, Diana Jeon, Genevieve Haliburton, Matt Leggett, Clement S. Chu, Kevin Iori, Jared R. Maguire, Kaylene Ready, Eric A. Evans, Hyunseok P. Kang, Imran S. Haque

PeerJ. 2017; 5: e3046. Published online 2017 Feb 23. doi: 10.7717/peerj.3046

PMCID:: PMC5326550

Article PDF–229K

Select item 520725710.

Protein 4.1R Influences Myogenin Protein Stability and Skeletal Muscle Differentiation

Shu-Ching Huang, Anyu Zhou, Dan T. Nguyen, Henry S. Zhang, Edward J. Benz, Jr.

J Biol Chem. 2016 Dec 2; 291(49): 25591–25607. Published online 2016 Oct 25. doi: 10.1074/jbc.M116.761296

PMCID:: PMC5207257

Article PDF–2.9M

Select item 502627011.

Von Hippel-Lindau disease: the clinical manifestations and genetic analysis results of two cases from a single family

S Kinyas, Dr SA Ozal, H Guclu, V Gurlu, H Esgin, H Gurkan

Balkan J Med Genet. 2015 Dec 1; 18(2): 65–70. Published online 2016 Jul 9. doi: 10.1515/bjmg-2015-0087

PMCID:: PMC5026270

Article PDF–2.1M

Select item 499040312.

Germline mutations in the VHL gene associated with 3 different renal lesions in a Chinese von Hippel-Lindau disease family

Ping Yuan, Qipeng Sun, Hao Liang, Wenjun Wang, Ling Li, Ye Wang, Huan Deng, Luhua Lai, Xiaoli Chen, Xiangfu Zhou

Cancer Biol Ther. 2016 Jun; 17(6): 599–603. Published online 2016 Apr 8. doi: 10.1080/15384047.2016.1167293

PMCID:: PMC4990403

Article PDF–568K

Select item 481235713.

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

Gautham Arunachal, Divya Pachat, C. George Priya Doss, Sumita Danda, Rekha Pai, Andrew Ebenazer

Genet Res Int. 2016; 2016: 9872594. Published online 2016 Mar 16. doi: 10.1155/2016/9872594

PMCID:: PMC4812357

Article PDF–1.4M

Select item 457719714.

Epigenetic silencing of tumor suppressor genes during in vitro Epstein–Barr virus infection

Abhik Saha, Hem C. Jha, Santosh K. Upadhyay, Erle S. Robertson

Proc Natl Acad Sci U S A. 2015 Sep 15; 112(37): E5199–E5207. Published online 2015 Aug 31. doi: 10.1073/pnas.1503806112

PMCID:: PMC4577197

Article PDF–2.0M

Select item 450638015.

The von Hippel–Lindau tumour suppressor gene: uncovering the expression of the pVHL172 isoform

F Chesnel, P Hascoet, J P Gagné, A Couturier, F Jouan, G G Poirier, C Le Goff, C Vigneau, Y Danger, F Verite, X Le Goff, Y Arlot-Bonnemains

Br J Cancer. 2015 Jul 14; 113(2): 336–344. Published online 2015 Jun 2. doi: 10.1038/bjc.2015.189

PMCID:: PMC4506380

Article PDF–1.2M

Select item 419922116.

Circulating Cortisol-Associated Signature of Glucocorticoid-related Gene Expression in Subcutaneous Fat of Obese Subjects

Maria G. Pavlatou, Kasey C. Vickers, Sudhir Varma, Rana Malek, Maureen Sampson, Alan T. Remaley, Philip W. Gold, Monica C. Skarulis, Tomoshige Kino

Obesity (Silver Spring) Author manuscript; available in PMC 2014 Oct 16.

Published in final edited form as: Obesity (Silver Spring). 2013 May; 21(5): 960–967. doi: 10.1002/oby.20073

PMCID:: PMC4199221

Article PDF–104K

Select item 353410617.

Inhibitory Effect of Tumor Suppressor p53 on Proinflammatory Chemokine Expression in Ovarian Cancer Cells by Reducing Proteasomal Degradation of IκB

Deok-Soo Son, Syder M. Kabir, Yuan-Lin Dong, Eunsook Lee, Samuel E. Adunyah

PLoS One. 2012; 7(12): e51116. Published online 2012 Dec 31. doi: 10.1371/journal.pone.0051116

PMCID:: PMC3534106

Article PDF–2.2M

Select item 345894918.

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

Mette Dandanell, Lennart Friis-Hansen, Lone Sunde, Finn C Nielsen, Thomas v O Hansen

BMC Med Genet. 2012; 13: 54. Published online 2012 Jul 16. doi: 10.1186/1471-2350-13-54

PMCID:: PMC3458949

Article PDF–312K

Select item 336106219.

Differing Von Hippel Lindau Genotype in Paired Primary and Metastatic Tumors in Patients with Clear Cell Renal Cell Carcinoma

Susan A. J. Vaziri, Emmanuel J. Tavares, Ali R. Golshayan, Brian I. Rini, Hakan Aydin, Ming Zhou, Linda Sercia, Laura Wood, Mahrukh K. Ganapathi, Ronald M. Bukowski, Ram Ganapathi

Front Oncol. 2012; 2: 51. Published online 2012 May 28. doi: 10.3389/fonc.2012.00051