ULK4 c.670A>G ;(p.I224V)

Variant ID: 3-41960006-T-C

NM_017886.2(ULK4):c.670A>G;(p.I224V)

This variant was identified in 51 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: ULK4: I224V
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER
Publication Date: 2023-03-16

Variant appearance in text: ULK4: I224V
PubMed Link: 36928921
Variant Present in the following documents:
  • ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3
View BVdb publication page



Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications
Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S
Publication Date: 2022-11

Variant appearance in text: ULK4: I224V; rs1716975
PubMed Link: 36643868
Variant Present in the following documents:
  • crc-22-0245-s07.xlsx, sheet 1
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: ULK4: I224V
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Case report: A persistently expanded T cell response in an exceptional responder to radiation and atezolizumab for metastatic non-small cell lung cancer.

Frontiers In Immunology
Coffey, David G DG; Xu, Yuexin Y; Towlerton, Andrea M H AMH; Kowanetz, Marcin M; Hegde, Priti P; Darwish, Martine M; Yadav, Mahesh M; Blanchette, Craig C; Ruppert, Shannon M SM; Bertino, Sarah S; Xu, Qikai Q; Ferretti, Andrew A; Weinheimer, Adam A; Hellmann, Matthew M; Qin, Angel A; Thomas, Dafydd D; Warren, Edus H EH; Ramnath, Nithya N
Publication Date: 2022

Variant appearance in text: ULK4: I224V
PubMed Link: 36159875
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: ULK4: I224V
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease
Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD
Publication Date: 2022-06-29

Variant appearance in text: ULK4: I224V; rs1716975
PubMed Link: 35768426
Variant Present in the following documents:
  • 41531_2022_346_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.

Iscience
Bateman, Nicholas W NW; Tarney, Christopher M CM; Abulez, Tamara S TS; Hood, Brian L BL; Conrads, Kelly A KA; Zhou, Ming M; Soltis, Anthony R AR; Teng, Pang-Ning PN; Jackson, Amanda A; Tian, Chunqiao C; Dalgard, Clifton L CL; Wilkerson, Matthew D MD; Kessler, Michael D MD; Goecker, Zachary Z; Loffredo, Jeremy J; Shriver, Craig D CD; Hu, Hai H; Cote, Michele M; Parker, Glendon J GJ; Segars, James J; Al-Hendy, Ayman A; Risinger, John I JI; Phippen, Neil T NT; Casablanca, Yovanni Y; Darcy, Kathleen M KM; Maxwell, G Larry GL; Conrads, Thomas P TP; O'Connor, Timothy D TD
Publication Date: 2022-01-21

Variant appearance in text: ULK4: I224V; rs1716975
PubMed Link: 35036865
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



Genomic insights in ascending aortic size and distensibility.

Ebiomedicine
Benjamins, Jan Walter JW; Yeung, Ming Wai MW; van de Vegte, Yordi J YJ; Said, M Abdullah MA; van der Linden, Thijs T; Ties, Daan D; Juarez-Orozco, Luis E LE; Verweij, Niek N; van der Harst, Pim P
Publication Date: 2022-01

Variant appearance in text: ULK4: I224V; rs1716975
PubMed Link: 34968759
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



Genomic insights in ascending aortic size and distensibility.

Ebiomedicine
Benjamins, Jan Walter JW; Yeung, Ming Wai MW; van de Vegte, Yordi J YJ; Said, M Abdullah MA; van der Linden, Thijs T; Ties, Daan D; Juarez-Orozco, Luis E LE; Verweij, Niek N; van der Harst, Pim P
Publication Date: 2021-12-27

Variant appearance in text: ULK4: I224V; rs1716975
PubMed Link: 34968759
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



A renal cell carcinoma tumorgraft platform to advance precision medicine.

Cell Reports
Elias, Roy R; Tcheuyap, Vanina T VT; Kaushik, Akash K AK; Singla, Nirmish N; Gao, Ming M; Reig Torras, Oscar O; Christie, Alana A; Mulgaonkar, Aditi A; Woolford, Layton L; Stevens, Christina C; Kettimuthu, Kavitha Priya KP; Pavia-Jimenez, Andrea A; Boroughs, Lindsey K LK; Joyce, Allison A; Dakanali, Marianna M; Notgrass, Hollis H; Margulis, Vitaly V; Cadeddu, Jeffrey A JA; Pedrosa, Ivan I; Williams, Noelle S NS; Sun, Xiankai X; DeBerardinis, Ralph J RJ; Öz, Orhan K OK; Zhong, Hua H; Seshagiri, Somasekar S; Modrusan, Zora Z; Cantarel, Brandi L BL; Kapur, Payal P; Brugarolas, James J
Publication Date: 2021-11-23

Variant appearance in text: ULK4: 670A>G; I224V; rs1716975
PubMed Link: 34818533
Variant Present in the following documents:
  • NIHMS1761779-supplement-Table_S8.xlsx, sheet 1
View BVdb publication page



A renal cell carcinoma tumorgraft platform to advance precision medicine.

Cell Reports
Elias, Roy R; Tcheuyap, Vanina T VT; Kaushik, Akash K AK; Singla, Nirmish N; Gao, Ming M; Reig Torras, Oscar O; Christie, Alana A; Mulgaonkar, Aditi A; Woolford, Layton L; Stevens, Christina C; Kettimuthu, Kavitha Priya KP; Pavia-Jimenez, Andrea A; Boroughs, Lindsey K LK; Joyce, Allison A; Dakanali, Marianna M; Notgrass, Hollis H; Margulis, Vitaly V; Cadeddu, Jeffrey A JA; Pedrosa, Ivan I; Williams, Noelle S NS; Sun, Xiankai X; DeBerardinis, Ralph J RJ; Öz, Orhan K OK; Zhong, Hua H; Seshagiri, Somasekar S; Modrusan, Zora Z; Cantarel, Brandi L BL; Kapur, Payal P; Brugarolas, James J
Publication Date: 2021-11-23

Variant appearance in text: ULK4: 670A>G; I224V; rs1716975
PubMed Link: 34818533
Variant Present in the following documents:
  • NIHMS1761779-supplement-Table_S8.xlsx, sheet 1
View BVdb publication page



Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021

Variant appearance in text: ULK4: I224V; rs1716975
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 11
  • mmc2.xlsx, sheet 3
View BVdb publication page



Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021-10-19

Variant appearance in text: ULK4: I224V; rs1716975
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 3
  • mmc2.xlsx, sheet 11
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: ULK4: 670A>G; I224V; rs1716975
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: ULK4: Ile224Val; rs1716975
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021

Variant appearance in text: ULK4: 670A>G; I224V; rs1716975
PubMed Link: 33770142
Variant Present in the following documents:
  • pone.0249324.s003.xlsx, sheet 2
  • pone.0249324.s003.xlsx, sheet 3
  • pone.0249324.s003.xlsx, sheet 1
View BVdb publication page



Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08

Variant appearance in text: ULK4: I224V; rs1716975
PubMed Link: 33420045
Variant Present in the following documents:
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis
Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q
Publication Date: 2020-09

Variant appearance in text: ULK4: I224V; rs1716975
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, sheet 1
View BVdb publication page



Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Publication Date: 2020-04-20

Variant appearance in text: rs1716975
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.

Nature Communications
Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T
Publication Date: 2020-01-03

Variant appearance in text: ULK4: I224V
PubMed Link: 31900393
Variant Present in the following documents:
  • 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: ULK4: 670A>G; Ile224Val; rs1716975
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: ULK4: I224V; rs1716975
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20

Variant appearance in text: ULK4: I224V; rs1716975
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs1716975
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
View BVdb publication page



Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports
Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS
Publication Date: 2018-12-04

Variant appearance in text: ULK4: I224V; rs1716975
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports
Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN
Publication Date: 2018-11-02

Variant appearance in text: ULK4: I224V; rs1716975
PubMed Link: 30389958
Variant Present in the following documents:
  • 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: ULK4: 670A>G; Ile224Val; rs1716975
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Bmc Medical Genomics
Calender, Alain A; Rollat Farnier, Pierre Antoine PA; Buisson, Adrien A; Pinson, Stéphane S; Bentaher, Abderrazzaq A; Lebecque, Serge S; Corvol, Harriet H; Abou Taam, Rola R; Houdouin, Véronique V; Bardel, Claire C; Roy, Pascal P; Devouassoux, Gilles G; Cottin, Vincent V; Seve, Pascal P; Bernaudin, Jean-François JF; Lim, Clarice X CX; Weichhart, Thomas T; Valeyre, Dominique D; Pacheco, Yves Y; Clement, Annick A; Nathan, Nadia N; ,
Publication Date: 2018-03-06

Variant appearance in text: ULK4: 670A>G; Ile224Val; rs1716975
PubMed Link: 29510755
Variant Present in the following documents:
  • 12920_2018_338_MOESM6_ESM.xlsx, sheet 2
View BVdb publication page



DNA methylation mapping identifies gene regulatory effects in patients with systemic lupus erythematosus.

Annals Of The Rheumatic Diseases
Imgenberg-Kreuz, Juliana J; Carlsson Almlöf, Jonas J; Leonard, Dag D; Alexsson, Andrei A; Nordmark, Gunnel G; Eloranta, Maija-Leena ML; Rantapää-Dahlqvist, Solbritt S; Bengtsson, Anders A AA; Jönsen, Andreas A; Padyukov, Leonid L; Gunnarsson, Iva I; Svenungsson, Elisabet E; Sjöwall, Christopher C; Rönnblom, Lars L; Syvänen, Ann-Christine AC; Sandling, Johanna K JK
Publication Date: 2018-05

Variant appearance in text: rs1716975
PubMed Link: 29437559
Variant Present in the following documents:
  • annrheumdis-2017-212379supp016.pdf
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: ULK4: I224V; rs1716975
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 1
  • oncotarget-08-95841-s002.xlsx, sheet 4
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs1716975
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23

Variant appearance in text: ULK4: I224V; rs1716975
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Rare coding variants associated with blood pressure variation in 15 914 individuals of African ancestry.

Journal Of Hypertension
Nandakumar, Priyanka P; Lee, Dongwon D; Richard, Melissa A MA; Tekola-Ayele, Fasil F; Tayo, Bamidele O BO; Ware, Erin E; Sung, Yun J YJ; Salako, Babatunde B; Ogunniyi, Adesola A; Gu, C Charles CC; Grove, Megan L ML; Fornage, Myriam M; Kardia, Sharon S; Rotimi, Charles C; Cooper, Richard S RS; Morrison, Alanna C AC; Ehret, Georg G; Chakravarti, Aravinda A
Publication Date: 2017-07

Variant appearance in text: rs1716975
PubMed Link: 28234671
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variant Discovery and Fine Mapping of Genetic Loci Associated with Blood Pressure Traits in Hispanics and African Americans.

Plos One
Franceschini, Nora N; Carty, Cara L CL; Lu, Yingchang Y; Tao, Ran R; Sung, Yun Ju YJ; Manichaikul, Ani A; Haessler, Jeff J; Fornage, Myriam M; Schwander, Karen K; Zubair, Niha N; Bien, Stephanie S; Hindorff, Lucia A LA; Guo, Xiuqing X; Bielinski, Suzette J SJ; Ehret, Georg G; Kaufman, Joel D JD; Rich, Stephen S SS; Carlson, Christopher S CS; Bottinger, Erwin P EP; North, Kari E KE; Rao, D C DC; Chakravarti, Aravinda A; Barrett, Paula Q PQ; Loos, Ruth J F RJ; Buyske, Steven S; Kooperberg, Charles C
Publication Date: 2016

Variant appearance in text: rs1716975
PubMed Link: 27736895
Variant Present in the following documents:
  • pone.0164132.s001.pdf
View BVdb publication page



Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.

The Journal Of Pathology
Maguire, Sarah L SL; Peck, Barrie B; Wai, Patty T PT; Campbell, James J; Barker, Holly H; Gulati, Aditi A; Daley, Frances F; Vyse, Simon S; Huang, Paul P; Lord, Christopher J CJ; Farnie, Gillian G; Brennan, Keith K; Natrajan, Rachael R
Publication Date: 2016-11

Variant appearance in text: ULK4: I224V; rs1716975
PubMed Link: 27512948
Variant Present in the following documents:
  • PATH-240-315-s015.xlsx, sheet 1
View BVdb publication page



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: rs1716975
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: ULK4: I224V; rs1716975
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 2
View BVdb publication page



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: ULK4: I224V
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20

Variant appearance in text: ULK4: I224V; rs1716975
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page



Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics
Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J
Publication Date: 2015-03-12

Variant appearance in text: ULK4: I224V; rs1716975
PubMed Link: 25887915
Variant Present in the following documents:
  • 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports
Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R
Publication Date: 2015-03-16

Variant appearance in text: ULK4: I224V; rs1716975
PubMed Link: 25773295
Variant Present in the following documents:
  • srep09124-s3.xls, sheet 1
View BVdb publication page



Practical investigation of the performance of robust logistic regression to predict the genetic risk of hypertension.

Bmc Proceedings
Kesselmeier, Miriam M; Legrand, Carine C; Peil, Barbara B; Kabisch, Maria M; Fischer, Christine C; Hamann, Ute U; Lorenzo Bermejo, Justo J
Publication Date: 2014

Variant appearance in text: rs1716975
PubMed Link: 25519338
Variant Present in the following documents:
  • Main text
  • 1753-6561-8-S1-S65.pdf
View BVdb publication page



Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics
Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A
Publication Date: 2014-12-11

Variant appearance in text: ULK4: I224V; rs1716975
PubMed Link: 25496518
Variant Present in the following documents:
  • 40246_2014_20_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: ULK4: I224V; rs1716975
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research
Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR
Publication Date: 2014-12-16

Variant appearance in text: ULK4: I224V; rs1716975
PubMed Link: 25352556
Variant Present in the following documents:
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 12
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 19
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 23
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 5
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 25
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 9
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 8
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 14
View BVdb publication page



Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science
Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K
Publication Date: 2014-02

Variant appearance in text: ULK4: I224V; rs1716975
PubMed Link: 24219164
Variant Present in the following documents:
  • cas0105-0202-SD2.xlsx, sheet 1
  • cas0105-0202-SD3.xlsx, sheet 1
View BVdb publication page



Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations.

American Journal Of Human Genetics
Franceschini, Nora N; Fox, Ervin E; Zhang, Zhaogong Z; Edwards, Todd L TL; Nalls, Michael A MA; Sung, Yun Ju YJ; Tayo, Bamidele O BO; Sun, Yan V YV; Gottesman, Omri O; Adeyemo, Adebawole A; Johnson, Andrew D AD; Young, J Hunter JH; Rice, Ken K; Duan, Qing Q; Chen, Fang F; Li, Yun Y; Tang, Hua H; Fornage, Myriam M; Keene, Keith L KL; Andrews, Jeanette S JS; Smith, Jennifer A JA; Faul, Jessica D JD; Guangfa, Zhang Z; Guo, Wei W; Liu, Yu Y; Murray, Sarah S SS; Musani, Solomon K SK; Srinivasan, Sathanur S; Velez Edwards, Digna R DR; Wang, Heming H; Becker, Lewis C LC; Bovet, Pascal P; Bochud, Murielle M; Broeckel, Ulrich U; Burnier, Michel M; Carty, Cara C; Chasman, Daniel I DI; Ehret, Georg G; Chen, Wei-Min WM; Chen, Guanjie G; Chen, Wei W; Ding, Jingzhong J; Dreisbach, Albert W AW; Evans, Michele K MK; Guo, Xiuqing X; Garcia, Melissa E ME; Jensen, Rich R; Keller, Margaux F MF; Lettre, Guillaume G; Lotay, Vaneet V; Martin, Lisa W LW; Moore, Jason H JH; Morrison, Alanna C AC; Mosley, Thomas H TH; Ogunniyi, Adesola A; Palmas, Walter W; Papanicolaou, George G; Penman, Alan A; Polak, Joseph F JF; Ridker, Paul M PM; Salako, Babatunde B; Singleton, Andrew B AB; Shriner, Daniel D; Taylor, Kent D KD; Vasan, Ramachandran R; Wiggins, Kerri K; Williams, Scott M SM; Yanek, Lisa R LR; Zhao, Wei W; Zonderman, Alan B AB; Becker, Diane M DM; Berenson, Gerald G; Boerwinkle, Eric E; Bottinger, Erwin E; Cushman, Mary M; Eaton, Charles C; Nyberg, Fredrik F; Heiss, Gerardo G; Hirschhron, Joel N JN; Howard, Virginia J VJ; Karczewsk, Konrad J KJ; Lanktree, Matthew B MB; Liu, Kiang K; Liu, Yongmei Y; Loos, Ruth R; Margolis, Karen K; Snyder, Michael M; , ; Psaty, Bruce M BM; Schork, Nicholas J NJ; Weir, David R DR; Rotimi, Charles N CN; Sale, Michele M MM; Harris, Tamara T; Kardia, Sharon L R SL; Hunt, Steven C SC; Arnett, Donna D; Redline, Susan S; Cooper, Richard S RS; Risch, Neil J NJ; Rao, D C DC; Rotter, Jerome I JI; Chakravarti, Aravinda A; Reiner, Alex P AP; Levy, Daniel D; Keating, Brendan J BJ; Zhu, Xiaofeng X
Publication Date: 2013-09-05

Variant appearance in text: rs1716975
PubMed Link: 23972371
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs1716975
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page



The CCND1 c.870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.

Nature Genetics
Weinhold, Niels N; Johnson, David C DC; Chubb, Daniel D; Chen, Bowang B; Försti, Asta A; Hosking, Fay J FJ; Broderick, Peter P; Ma, Yussanne P YP; Dobbins, Sara E SE; Hose, Dirk D; Walker, Brian A BA; Davies, Faith E FE; Kaiser, Martin F MF; Li, Ni L NL; Gregory, Walter A WA; Jackson, Graham H GH; Witzens-Harig, Mathias M; Neben, Kai K; Hoffmann, Per P; Nöthen, Markus M MM; Mühleisen, Thomas W TW; Eisele, Lewin L; Ross, Fiona M FM; Jauch, Anna A; Goldschmidt, Hartmut H; Houlston, Richard S RS; Morgan, Gareth J GJ; Hemminki, Kari K
Publication Date: 2013-05

Variant appearance in text: rs1716975
PubMed Link: 23502783
Variant Present in the following documents:
  • NIHMS53125-supplement-1.pdf
View BVdb publication page



Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.

Nature
, ; Ehret, Georg B GB; Munroe, Patricia B PB; Rice, Kenneth M KM; Bochud, Murielle M; Johnson, Andrew D AD; Chasman, Daniel I DI; Smith, Albert V AV; Tobin, Martin D MD; Verwoert, Germaine C GC; Hwang, Shih-Jen SJ; Pihur, Vasyl V; Vollenweider, Peter P; O'Reilly, Paul F PF; Amin, Najaf N; Bragg-Gresham, Jennifer L JL; Teumer, Alexander A; Glazer, Nicole L NL; Launer, Lenore L; Zhao, Jing Hua JH; Aulchenko, Yurii Y; Heath, Simon S; Sõber, Siim S; Parsa, Afshin A; Luan, Jian'an J; Arora, Pankaj P; Dehghan, Abbas A; Zhang, Feng F; Lucas, Gavin G; Hicks, Andrew A AA; Jackson, Anne U AU; Peden, John F JF; Tanaka, Toshiko T; Wild, Sarah H SH; Rudan, Igor I; Igl, Wilmar W; Milaneschi, Yuri Y; Parker, Alex N AN; Fava, Cristiano C; Chambers, John C JC; Fox, Ervin R ER; Kumari, Meena M; Go, Min Jin MJ; van der Harst, Pim P; Kao, Wen Hong Linda WH; Sjögren, Marketa M; Vinay, D G DG; Alexander, Myriam M; Tabara, Yasuharu Y; Shaw-Hawkins, Sue S; Whincup, Peter H PH; Liu, Yongmei Y; Shi, Gang G; Kuusisto, Johanna J; Tayo, Bamidele B; Seielstad, Mark M; Sim, Xueling X; Nguyen, Khanh-Dung Hoang KD; Lehtimäki, Terho T; Matullo, Giuseppe G; Wu, Ying Y; Gaunt, Tom R TR; Onland-Moret, N Charlotte NC; Cooper, Matthew N MN; Platou, Carl G P CG; Org, Elin E; Hardy, Rebecca R; Dahgam, Santosh S; Palmen, Jutta J; Vitart, Veronique V; Braund, Peter S PS; Kuznetsova, Tatiana T; Uiterwaal, Cuno S P M CS; Adeyemo, Adebowale A; Palmas, Walter W; Campbell, Harry H; Ludwig, Barbara B; Tomaszewski, Maciej M; Tzoulaki, Ioanna I; Palmer, Nicholette D ND; , ; , ; , ; , ; , ; Aspelund, Thor T; Garcia, Melissa M; Chang, Yen-Pei C YP; O'Connell, Jeffrey R JR; Steinle, Nanette I NI; Grobbee, Diederick E DE; Arking, Dan E DE; Kardia, Sharon L SL; Morrison, Alanna C AC; Hernandez, Dena D; Najjar, Samer S; McArdle, Wendy L WL; Hadley, David D; Brown, Morris J MJ; Connell, John M JM; Hingorani, Aroon D AD; Day, Ian N M IN; Lawlor, Debbie A DA; Beilby, John P JP; Lawrence, Robert W RW; Clarke, Robert R; Hopewell, Jemma C JC; Ongen, Halit H; Dreisbach, Albert W AW; Li, Yali Y; Young, J Hunter JH; Bis, Joshua C JC; Kähönen, Mika M; Viikari, Jorma J; Adair, Linda S LS; Lee, Nanette R NR; Chen, Ming-Huei MH; Olden, Matthias M; Pattaro, Cristian C; Bolton, Judith A Hoffman JA; Köttgen, Anna A; Bergmann, Sven S; Mooser, Vincent V; Chaturvedi, Nish N; Frayling, Timothy M TM; Islam, Muhammad M; Jafar, Tazeen H TH; Erdmann, Jeanette J; Kulkarni, Smita R SR; Bornstein, Stefan R SR; Grässler, Jürgen J; Groop, Leif L; Voight, Benjamin F BF; Kettunen, Johannes J; Howard, Philip P; Taylor, Andrew A; Guarrera, Simonetta S; Ricceri, Fulvio F; Emilsson, Valur V; Plump, Andrew A; Barroso, Inês I; Khaw, Kay-Tee KT; Weder, Alan B AB; Hunt, Steven C SC; Sun, Yan V YV; Bergman, Richard N RN; Collins, Francis S FS; Bonnycastle, Lori L LL; Scott, Laura J LJ; Stringham, Heather M HM; Peltonen, Leena L; Perola, Markus M; Vartiainen, Erkki E; Brand, Stefan-Martin SM; Staessen, Jan A JA; Wang, Thomas J TJ; Burton, Paul R PR; Soler Artigas, Maria M; Dong, Yanbin Y; Snieder, Harold H; Wang, Xiaoling X; Zhu, Haidong H; Lohman, Kurt K KK; Rudock, Megan E ME; Heckbert, Susan R SR; Smith, Nicholas L NL; Wiggins, Kerri L KL; Doumatey, Ayo A; Shriner, Daniel D; Veldre, Gudrun G; Viigimaa, Margus M; Kinra, Sanjay S; Prabhakaran, Dorairaj D; Tripathy, Vikal V; Langefeld, Carl D CD; Rosengren, Annika A; Thelle, Dag S DS; Corsi, Anna Maria AM; Singleton, Andrew A; Forrester, Terrence T; Hilton, Gina G; McKenzie, Colin A CA; Salako, Tunde T; Iwai, Naoharu N; Kita, Yoshikuni Y; Ogihara, Toshio T; Ohkubo, Takayoshi T; Okamura, Tomonori T; Ueshima, Hirotsugu H; Umemura, Satoshi S; Eyheramendy, Susana S; Meitinger, Thomas T; Wichmann, H-Erich HE; Cho, Yoon Shin YS; Kim, Hyung-Lae HL; Lee, Jong-Young JY; Scott, James J; Sehmi, Joban S JS; Zhang, Weihua W; Hedblad, Bo B; Nilsson, Peter P; Smith, George Davey GD; Wong, Andrew A; Narisu, Narisu N; Stančáková, Alena A; Raffel, Leslie J LJ; Yao, Jie J; Kathiresan, Sekar S; O'Donnell, Christopher J CJ; Schwartz, Stephen M SM; Ikram, M Arfan MA; Longstreth, W T WT; Mosley, Thomas H TH; Seshadri, Sudha S; Shrine, Nick R G NR; Wain, Louise V LV; Morken, Mario A MA; Swift, Amy J AJ; Laitinen, Jaana J; Prokopenko, Inga I; Zitting, Paavo P; Cooper, Jackie A JA; Humphries, Steve E SE; Danesh, John J; Rasheed, Asif A; Goel, Anuj A; Hamsten, Anders A; Watkins, Hugh H; Bakker, Stephan J L SJ; van Gilst, Wiek H WH; Janipalli, Charles S CS; Mani, K Radha KR; Yajnik, Chittaranjan S CS; Hofman, Albert A; Mattace-Raso, Francesco U S FU; Oostra, Ben A BA; Demirkan, Ayse A; Isaacs, Aaron A; Rivadeneira, Fernando F; Lakatta, Edward G EG; Orru, Marco M; Scuteri, Angelo A; Ala-Korpela, Mika M; Kangas, Antti J AJ; Lyytikäinen, Leo-Pekka LP; Soininen, Pasi P; Tukiainen, Taru T; Würtz, Peter P; Ong, Rick Twee-Hee RT; Dörr, Marcus M; Kroemer, Heyo K HK; Völker, Uwe U; Völzke, Henry H; Galan, Pilar P; Hercberg, Serge S; Lathrop, Mark M; Zelenika, Diana D; Deloukas, Panos P; Mangino, Massimo M; Spector, Tim D TD; Zhai, Guangju G; Meschia, James F JF; Nalls, Michael A MA; Sharma, Pankaj P; Terzic, Janos J; Kumar, M V Kranthi MV; Denniff, Matthew M; Zukowska-Szczechowska, Ewa E; Wagenknecht, Lynne E LE; Fowkes, F Gerald R FG; Charchar, Fadi J FJ; Schwarz, Peter E H PE; Hayward, Caroline C; Guo, Xiuqing X; Rotimi, Charles C; Bots, Michiel L ML; Brand, Eva E; Samani, Nilesh J NJ; Polasek, Ozren O; Talmud, Philippa J PJ; Nyberg, Fredrik F; Kuh, Diana D; Laan, Maris M; Hveem, Kristian K; Palmer, Lyle J LJ; van der Schouw, Yvonne T YT; Casas, Juan P JP; Mohlke, Karen L KL; Vineis, Paolo P; Raitakari, Olli O; Ganesh, Santhi K SK; Wong, Tien Y TY; Tai, E Shyong ES; Cooper, Richard S RS; Laakso, Markku M; Rao, Dabeeru C DC; Harris, Tamara B TB; Morris, Richard W RW; Dominiczak, Anna F AF; Kivimaki, Mika M; Marmot, Michael G MG; Miki, Tetsuro T; Saleheen, Danish D; Chandak, Giriraj R GR; Coresh, Josef J; Navis, Gerjan G; Salomaa, Veikko V; Han, Bok-Ghee BG; Zhu, Xiaofeng X; Kooner, Jaspal S JS; Melander, Olle O; Ridker, Paul M PM; Bandinelli, Stefania S; Gyllensten, Ulf B UB; Wright, Alan F AF; Wilson, James F JF; Ferrucci, Luigi L; Farrall, Martin M; Tuomilehto, Jaakko J; Pramstaller, Peter P PP; Elosua, Roberto R; Soranzo, Nicole N; Sijbrands, Eric J G EJ; Altshuler, David D; Loos, Ruth J F RJ; Shuldiner, Alan R AR; Gieger, Christian C; Meneton, Pierre P; Uitterlinden, Andre G AG; Wareham, Nicholas J NJ; Gudnason, Vilmundur V; Rotter, Jerome I JI; Rettig, Rainer R; Uda, Manuela M; Strachan, David P DP; Witteman, Jacqueline C M JC; Hartikainen, Anna-Liisa AL; Beckmann, Jacques S JS; Boerwinkle, Eric E; Vasan, Ramachandran S RS; Boehnke, Michael M; Larson, Martin G MG; Järvelin, Marjo-Riitta MR; Psaty, Bruce M BM; Abecasis, Gonçalo R GR; Chakravarti, Aravinda A; Elliott, Paul P; van Duijn, Cornelia M CM; Newton-Cheh, Christopher C; Levy, Daniel D; Caulfield, Mark J MJ; Johnson, Toby T
Publication Date: 2011-09-11

Variant appearance in text: rs1716975
PubMed Link: 21909115
Variant Present in the following documents:
  • NIHMS314865-supplement-3.pdf
  • NIHMS314865-supplement-2.xls, sheet 7
View BVdb publication page



Genetics of hypertension. Current status.

Le Journal Medical Libanais. The Lebanese Medical Journal
Butler, Merlin G MG
Publication Date: 2010

Variant appearance in text: rs1716975
PubMed Link: 21462849
Variant Present in the following documents:
  • Main text
View BVdb publication page