Publications:

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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: AKAP9: M463I

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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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: AKAP9: M463I

PubMed Link: 36928921

Variant Present in the following documents:

• ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3

View BVdb publication page

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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: AKAP9: M463I; rs6964587

PubMed Link: 36643868

Variant Present in the following documents:

• crc-22-0245-s07.xlsx, sheet 1

View BVdb publication page

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Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: rs6964587

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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IQ Motif Containing GTPase Activating Proteins (IQGAPs), A-Kinase Anchoring Proteins (AKAPs) and Kinase Suppressor of Ras Proteins (KSRs) in Scaffolding Oncogenic Pathways and Their Therapeutic Potential.

Acs Omega

Mohapatra, Talina T; Dixit, Manjusha M

Publication Date: 2022-12-20

Variant appearance in text: AKAP9: M463I

PubMed Link: 36570181

Variant Present in the following documents:

• Main text
• ao2c05505.pdf

View BVdb publication page

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: AKAP9: M463I; rs6964587

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C

Publication Date: 2022-10-21

Variant appearance in text: AKAP9: 1389G>T; Met463Ile; rs6964587

PubMed Link: 36269797

Variant Present in the following documents:

• ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1

View BVdb publication page

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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: AKAP9: M463I

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2

View BVdb publication page

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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: AKAP9: M463I

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Cancer genomic profiling identified dihydropyrimidine dehydrogenase deficiency in bladder cancer promotes sensitivity to gemcitabine.

Scientific Reports

Tsukahara, Shigehiro S; Shiota, Masaki M; Takamatsu, Dai D; Nagakawa, Shohei S; Matsumoto, Takashi T; Kiyokoba, Ryo R; Yagi, Mikako M; Setoyama, Daiki D; Noda, Nozomi N; Matsumoto, Shinya S; Hayashi, Tetsutaro T; Contreras-Sanz, Alberto A; Black, Peter C PC; Inokuchi, Junichi J; Kohashi, Kenichi K; Oda, Yoshinao Y; Uchiumi, Takeshi T; Eto, Masatoshi M; Kang, Dongchon D

Publication Date: 2022-05-20

Variant appearance in text: AKAP9: Met463Ile

PubMed Link: 35595780

Variant Present in the following documents:

• 41598_2022_12528_MOESM2_ESM.pdf

View BVdb publication page

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Transcript levels in plasma contribute substantial predictive value as potential Alzheimer's disease biomarkers in African Americans.

Ebiomedicine

Reddy, Joseph S JS; Jin, Jiangli J; Lincoln, Sarah J SJ; Ho, Charlotte C G CCG; Crook, Julia E JE; Wang, Xue X; Malphrus, Kimberly G KG; Nguyen, Thuy T; Tamvaka, Nikoleta N; Greig-Custo, Maria T MT; Lucas, John A JA; Graff-Radford, Neill R NR; Ertekin-Taner, Nilüfer N; Carrasquillo, Minerva M MM

Publication Date: 2022-04

Variant appearance in text: rs6964587

PubMed Link: 35307406

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications

Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X

Publication Date: 2022-02-08

Variant appearance in text: AKAP9: M463I

PubMed Link: 35136070

Variant Present in the following documents:

• 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Multiomics Landscape Uncovers the Molecular Mechanism of the Malignant Evolution of Lung Adenocarcinoma Cells to Chronic Low Dose Cadmium Exposure.

Frontiers In Oncology

Dai, Shun-Dong SD; Wang, Shuang S; Qin, Ya-Nan YN; Zhu, Jin-Chao JC

Publication Date: 2021

Variant appearance in text: AKAP9: M463I

PubMed Link: 34858801

Variant Present in the following documents:

• Table_1.xls, sheet 1

View BVdb publication page

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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: AKAP9: M463I

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 3
• mmc2.xlsx, sheet 4
• mmc2.xlsx, sheet 6
• mmc2.xlsx, sheet 9

View BVdb publication page

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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: AKAP9: M463I

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 9
• mmc2.xlsx, sheet 4
• mmc2.xlsx, sheet 3
• mmc2.xlsx, sheet 6

View BVdb publication page

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A Case of Adult Pancreatoblastoma With Novel APC Mutation and Genetic Heterogeneity.

Frontiers In Oncology

Suemitsu, Yamato Y; Ono, Yusuke Y; Mizukami, Yusuke Y; Ye, Juanjuan J; Yamakawa, Keiko K; Takamoto, Takeshi T; Nakano-Narusawa, Yuko Y; Mukai, Yuri Y; Takamatsu, Manabu M; Nakazawa, Atsuko A; Mino-Kenudson, Mari M; Kumasaka, Toshio T; Matsuda, Yoko Y

Publication Date: 2021

Variant appearance in text: AKAP9: 1389G>T; Met463Ile

PubMed Link: 34513702

Variant Present in the following documents:

• Main text
• fonc-11-725290.pdf

View BVdb publication page

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Pathogenic nsSNPs that increase the risks of cancers among the Orang Asli and Malays.

Scientific Reports

Khoruddin, Nurul Ain NA; Noorizhab, Mohd NurFakhruzzaman MN; Teh, Lay Kek LK; Mohd Yusof, Farida Zuraina FZ; Salleh, Mohd Zaki MZ

Publication Date: 2021-08-09

Variant appearance in text: AKAP9: M463I; rs6964587

PubMed Link: 34373545

Variant Present in the following documents:

• Main text
• 41598_2021_Article_95618.pdf

View BVdb publication page

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Fragmentation patterns and personalized sequencing of cell-free DNA in urine and plasma of glioma patients.

Embo Molecular Medicine

Mouliere, Florent F; Smith, Christopher G CG; Heider, Katrin K; Su, Jing J; van der Pol, Ymke Y; Thompson, Mareike M; Morris, James J; Wan, Jonathan C M JCM; Chandrananda, Dineika D; Hadfield, James J; Grzelak, Marta M; Hudecova, Irena I; Couturier, Dominique-Laurent DL; Cooper, Wendy W; Zhao, Hui H; Gale, Davina D; Eldridge, Matthew M; Watts, Colin C; Brindle, Kevin K; Rosenfeld, Nitzan N; Mair, Richard R

Publication Date: 2021-08-09

Variant appearance in text: AKAP9: 1389G>T; Met463Ile; rs6964587

PubMed Link: 34291583

Variant Present in the following documents:

• EMMM-13-e12881-s004.xlsx, sheet 1

View BVdb publication page

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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: AKAP9: 1389G>T; M463I; rs6964587

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Exome sequencing revealed PDE11A as a novel candidate gene for early-onset Alzheimer's disease.

Human Molecular Genetics

Qin, Wei W; Zhou, Aihong A; Zuo, Xiumei X; Jia, Longfei L; Li, Fangyu F; Wang, Qi Q; Li, Ying Y; Wei, Yiping Y; Jin, Hongmei H; Cruchaga, Carlos C; Benitez, Bruno A BA; Jia, Jianping J

Publication Date: 2021-05-28

Variant appearance in text: AKAP9: 1389G>T; M463I; rs6964587

PubMed Link: 33835157

Variant Present in the following documents:

• supplementary_tables_ddab090.xlsx, sheet 1

View BVdb publication page

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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: AKAP9: M463I; rs6964587

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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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: AKAP9: 1389G>T; M463I; rs6964587

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 2
• pone.0249324.s003.xlsx, sheet 3

View BVdb publication page

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Patient-derived organoids in cellulosic sponge model chemotherapy response of metastatic colorectal cancer.

Clinical And Translational Medicine

Xu, Yanjie Y; Chen, Jianjun J; Huang, Yizhou Y; Luo, Yang Y; Hsieh, An-Chih AC; Chen, Jianyi J; Li, Han H; Wei, Xunbin X; Gao, Wei-Qiang WQ; Zhong, Ming M; Zhang, Yan Y

Publication Date: 2021-01

Variant appearance in text: AKAP9: M463I; rs6964587

PubMed Link: 33463056

Variant Present in the following documents:

• CTM2-11-e285-s003.xlsx, sheet 9
• CTM2-11-e285-s003.xlsx, sheet 10

View BVdb publication page

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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: AKAP9: M463I; rs6964587

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 6

View BVdb publication page

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Isogenic Sets of hiPSC-CMs Harboring Distinct KCNH2 Mutations Differ Functionally and in Susceptibility to Drug-Induced Arrhythmias.

Stem Cell Reports

Brandão, Karina O KO; van den Brink, Lettine L; Miller, Duncan C DC; Grandela, Catarina C; van Meer, Berend J BJ; Mol, Mervyn P H MPH; de Korte, Tessa T; Tertoolen, Leon G J LGJ; Mummery, Christine L CL; Sala, Luca L; Verkerk, Arie O AO; Davis, Richard P RP

Publication Date: 2020-11-10

Variant appearance in text: rs6964587

PubMed Link: 33176122

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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RNA editing of BFP, a point mutant of GFP, using artificial APOBEC1 deaminase to restore the genetic code.

Scientific Reports

Bhakta, Sonali S; Sakari, Matomo M; Tsukahara, Toshifumi T

Publication Date: 2020-10-14

Variant appearance in text: AKAP9: 1389G>T; Met463Ile

PubMed Link: 33057101

Variant Present in the following documents:

• 41598_2020_74374_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Clustering of known low and moderate risk alleles rather than a novel recessive high-risk gene in non-BRCA1/2 sib trios affected with breast cancer.

International Journal Of Cancer

Hilbers, Florentine S FS; van 't Hof, Peter J PJ; Meijers, Caro M CM; Mei, Hailiang H; Michailidou, Kyriaki K; Dennis, Joe J; Hogervorst, Frans B L FBL; Nederlof, Petra M PM; van Asperen, Christi J CJ; Devilee, Peter P

Publication Date: 2020-11-15

Variant appearance in text: rs6964587

PubMed Link: 32383162

Variant Present in the following documents:

• IJC-147-2708-s001.pdf

View BVdb publication page

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Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications

Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B

Publication Date: 2020-04-09

Variant appearance in text: AKAP9: M463I

PubMed Link: 32273506

Variant Present in the following documents:

• 41467_2020_15456_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: AKAP9: 1389G>T; M463I; rs6964587

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Synchronous and multiple renal cell carcinoma, clear cell and papillary: An approach to clinically significant genetic abnormalities.

International Braz J Urol : Official Journal Of The Brazilian Society Of Urology

Cifuentes-C, Laura L; Martinez, Carlos Humberto CH; Garcia-Perdomo, Herney Andres HA

Publication Date: 2020

Variant appearance in text: rs6964587

PubMed Link: 32022527

Variant Present in the following documents:

• Main text
• 1677-6119-ibju-46-02-0287.pdf

View BVdb publication page

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Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes.

Nature Genetics

Fachal, Laura L; Aschard, Hugues H; Beesley, Jonathan J; Barnes, Daniel R DR; Allen, Jamie J; Kar, Siddhartha S; Pooley, Karen A KA; Dennis, Joe J; Michailidou, Kyriaki K; Turman, Constance C; Soucy, Penny P; Lemaçon, Audrey A; Lush, Michael M; Tyrer, Jonathan P JP; Ghoussaini, Maya M; Moradi Marjaneh, Mahdi M; Jiang, Xia X; Agata, Simona S; Aittomäki, Kristiina K; Alonso, M Rosario MR; Andrulis, Irene L IL; Anton-Culver, Hoda H; Antonenkova, Natalia N NN; Arason, Adalgeir A; Arndt, Volker V; Aronson, Kristan J KJ; Arun, Banu K BK; Auber, Bernd B; Auer, Paul L PL; Azzollini, Jacopo J; Balmaña, Judith J; Barkardottir, Rosa B RB; Barrowdale, Daniel D; Beeghly-Fadiel, Alicia A; Benitez, Javier J; Bermisheva, Marina M; Białkowska, Katarzyna K; Blanco, Amie M AM; Blomqvist, Carl C; Blot, William W; Bogdanova, Natalia V NV; Bojesen, Stig E SE; Bolla, Manjeet K MK; Bonanni, Bernardo B; Borg, Ake A; Bosse, Kristin K; Brauch, Hiltrud H; Brenner, Hermann H; Briceno, Ignacio I; Brock, Ian W IW; Brooks-Wilson, Angela A; Brüning, Thomas T; Burwinkel, Barbara B; Buys, Saundra S SS; Cai, Qiuyin Q; Caldés, Trinidad T; Caligo, Maria A MA; Camp, Nicola J NJ; Campbell, Ian I; Canzian, Federico F; Carroll, Jason S JS; Carter, Brian D BD; Castelao, Jose E JE; Chiquette, Jocelyne J; Christiansen, Hans H; Chung, Wendy K WK; Claes, Kathleen B M KBM; Clarke, Christine L CL; , ; , ; Collée, J Margriet JM; Cornelissen, Sten S; Couch, Fergus J FJ; Cox, Angela A; Cross, Simon S SS; Cybulski, Cezary C; Czene, Kamila K; Daly, Mary B MB; de la Hoya, Miguel M; Devilee, Peter P; Diez, Orland O; Ding, Yuan Chun YC; Dite, Gillian S GS; Domchek, Susan M SM; Dörk, Thilo T; Dos-Santos-Silva, Isabel I; Droit, Arnaud A; Dubois, Stéphane S; Dumont, Martine M; Duran, Mercedes M; Durcan, Lorraine L; Dwek, Miriam M; Eccles, Diana M DM; Engel, Christoph C; Eriksson, Mikael M; Evans, D Gareth DG; Fasching, Peter A PA; Fletcher, Olivia O; Floris, Giuseppe G; Flyger, Henrik H; Foretova, Lenka L; Foulkes, William D WD; Friedman, Eitan E; Fritschi, Lin L; Frost, Debra D; Gabrielson, Marike M; Gago-Dominguez, Manuela M; Gambino, Gaetana G; Ganz, Patricia A PA; Gapstur, Susan M SM; Garber, Judy J; García-Sáenz, José A JA; Gaudet, Mia M MM; Georgoulias, Vassilios V; Giles, Graham G GG; Glendon, Gord G; Godwin, Andrew K AK; Goldberg, Mark S MS; Goldgar, David E DE; González-Neira, Anna A; Tibiletti, Maria Grazia MG; Greene, Mark H MH; Grip, Mervi M; Gronwald, Jacek J; Grundy, Anne A; Guénel, Pascal P; Hahnen, Eric E; Haiman, Christopher A CA; Håkansson, Niclas N; Hall, Per P; Hamann, Ute U; Harrington, Patricia A PA; Hartikainen, Jaana M JM; Hartman, Mikael M; He, Wei W; Healey, Catherine S CS; Heemskerk-Gerritsen, Bernadette A M BAM; Heyworth, Jane J; Hillemanns, Peter P; Hogervorst, Frans B L FBL; Hollestelle, Antoinette A; Hooning, Maartje J MJ; Hopper, John L JL; Howell, Anthony A; Huang, Guanmengqian G; Hulick, Peter J PJ; Imyanitov, Evgeny N EN; , ; , ; , ; Isaacs, Claudine C; Iwasaki, Motoki M; Jager, Agnes A; Jakimovska, Milena M; Jakubowska, Anna A; James, Paul A PA; Janavicius, Ramunas R; Jankowitz, Rachel C RC; John, Esther M EM; Johnson, Nichola N; Jones, Michael E ME; Jukkola-Vuorinen, Arja A; Jung, Audrey A; Kaaks, Rudolf R; Kang, Daehee D; Kapoor, Pooja Middha PM; Karlan, Beth Y BY; Keeman, Renske R; Kerin, Michael J MJ; Khusnutdinova, Elza E; Kiiski, Johanna I JI; Kirk, Judy J; Kitahara, Cari M CM; Ko, Yon-Dschun YD; Konstantopoulou, Irene I; Kosma, Veli-Matti VM; Koutros, Stella S; Kubelka-Sabit, Katerina K; Kwong, Ava A; Kyriacou, Kyriacos K; Laitman, Yael Y; Lambrechts, Diether D; Lee, Eunjung E; Leslie, Goska G; Lester, Jenny J; Lesueur, Fabienne F; Lindblom, Annika A; Lo, Wing-Yee WY; Long, Jirong J; Lophatananon, Artitaya A; Loud, Jennifer T JT; Lubiński, Jan J; MacInnis, Robert J RJ; Maishman, Tom T; Makalic, Enes E; Mannermaa, Arto A; Manoochehri, Mehdi M; Manoukian, Siranoush S; Margolin, Sara S; Martinez, Maria Elena ME; Matsuo, Keitaro K; Maurer, Tabea T; Mavroudis, Dimitrios D; Mayes, Rebecca R; McGuffog, Lesley L; McLean, Catriona C; Mebirouk, Noura N; Meindl, Alfons A; Miller, Austin A; Miller, Nicola N; Montagna, Marco M; Moreno, Fernando F; Muir, Kenneth K; Mulligan, Anna Marie AM; Muñoz-Garzon, Victor M VM; Muranen, Taru A TA; Narod, Steven A SA; Nassir, Rami R; Nathanson, Katherine L KL; Neuhausen, Susan L SL; Nevanlinna, Heli H; Neven, Patrick P; Nielsen, Finn C FC; Nikitina-Zake, Liene L; Norman, Aaron A; Offit, Kenneth K; Olah, Edith E; Olopade, Olufunmilayo I OI; Olsson, Håkan H; Orr, Nick N; Osorio, Ana A; Pankratz, V Shane VS; Papp, Janos J; Park, Sue K SK; Park-Simon, Tjoung-Won TW; Parsons, Michael T MT; Paul, James J; Pedersen, Inge Sokilde IS; Peissel, Bernard B; Peshkin, Beth B; Peterlongo, Paolo P; Peto, Julian J; Plaseska-Karanfilska, Dijana D; Prajzendanc, Karolina K; Prentice, Ross R; Presneau, Nadege N; Prokofyeva, Darya D; Pujana, Miquel Angel MA; Pylkäs, Katri K; Radice, Paolo P; Ramus, Susan J SJ; Rantala, Johanna J; Rau-Murthy, Rohini R; Rennert, Gad G; Risch, Harvey A HA; Robson, Mark M; Romero, Atocha A; Rossing, Maria M; Saloustros, Emmanouil E; Sánchez-Herrero, Estela E; Sandler, Dale P DP; Santamariña, Marta M; Saunders, Christobel C; Sawyer, Elinor J EJ; Scheuner, Maren T MT; Schmidt, Daniel F DF; Schmutzler, Rita K RK; Schneeweiss, Andreas A; Schoemaker, Minouk J MJ; Schöttker, Ben B; Schürmann, Peter P; Scott, Christopher C; Scott, Rodney J RJ; Senter, Leigha L; Seynaeve, Caroline M CM; Shah, Mitul M; Sharma, Priyanka P; Shen, Chen-Yang CY; Shu, Xiao-Ou XO; Singer, Christian F CF; Slavin, Thomas P TP; Smichkoska, Snezhana S; Southey, Melissa C MC; Spinelli, John J JJ; Spurdle, Amanda B AB; Stone, Jennifer J; Stoppa-Lyonnet, Dominique D; Sutter, Christian C; Swerdlow, Anthony J AJ; Tamimi, Rulla M RM; Tan, Yen Yen YY; Tapper, William J WJ; Taylor, Jack A JA; Teixeira, Manuel R MR; Tengström, Maria M; Teo, Soo Hwang SH; Terry, Mary Beth MB; Teulé, Alex A; Thomassen, Mads M; Thull, Darcy L DL; Tischkowitz, Marc M; Toland, Amanda E AE; Tollenaar, Rob A E M RAEM; Tomlinson, Ian I; Torres, Diana D; Torres-Mejía, Gabriela G; Troester, Melissa A MA; Truong, Thérèse T; Tung, Nadine N; Tzardi, Maria M; Ulmer, Hans-Ulrich HU; Vachon, Celine M CM; van Asperen, Christi J CJ; van der Kolk, Lizet E LE; van Rensburg, Elizabeth J EJ; Vega, Ana A; Viel, Alessandra A; Vijai, Joseph J; Vogel, Maartje J MJ; Wang, Qin Q; Wappenschmidt, Barbara B; Weinberg, Clarice R CR; Weitzel, Jeffrey N JN; Wendt, Camilla C; Wildiers, Hans H; Winqvist, Robert R; Wolk, Alicja A; Wu, Anna H AH; Yannoukakos, Drakoulis D; Zhang, Yan Y; Zheng, Wei W; Hunter, David D; Pharoah, Paul D P PDP; Chang-Claude, Jenny J; García-Closas, Montserrat M; Schmidt, Marjanka K MK; Milne, Roger L RL; Kristensen, Vessela N VN; French, Juliet D JD; Edwards, Stacey L SL; Antoniou, Antonis C AC; Chenevix-Trench, Georgia G; Simard, Jacques J; Easton, Douglas F DF; Kraft, Peter P; Dunning, Alison M AM

Publication Date: 2020-01

Variant appearance in text: AKAP9: M463I; rs6964587

PubMed Link: 31911677

Variant Present in the following documents:

• EMS84721-supplement-Supplementary_Table_5.xlsx, sheet 3

View BVdb publication page

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The role of myoglobin in epithelial cancers: Insights from transcriptomics.

International Journal Of Molecular Medicine

Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T

Publication Date: 2020-02

Variant appearance in text: AKAP9: Met463Ile

PubMed Link: 31894249

Variant Present in the following documents:

• Supplementary_Data2.xlsx, sheet 5
• Supplementary_Data2.xlsx, sheet 6
• Supplementary_Data2.xlsx, sheet 7

View BVdb publication page

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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: AKAP9: 1389G>T; Met463Ile; rs6964587

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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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: AKAP9: M463I; rs6964587

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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A Polygenic Risk Score for Breast Cancer in US Latinas and Latin American Women.

Journal Of The National Cancer Institute

Shieh, Yiwey Y; Fejerman, Laura L; Lott, Paul C PC; Marker, Katie K; Sawyer, Sarah D SD; Hu, Donglei D; Huntsman, Scott S; Torres, Javier J; Echeverry, Magdalena M; Bohórquez, Mabel E ME; Martínez-Chéquer, Juan Carlos JC; Polanco-Echeverry, Guadalupe G; Estrada-Flórez, Ana P AP; , ; Haiman, Christopher A CA; John, Esther M EM; Kushi, Lawrence H LH; Torres-Mejía, Gabriela G; Vidaurre, Tatianna T; Weitzel, Jeffrey N JN; Zambrano, Sandro Casavilca SC; Carvajal-Carmona, Luis G LG; Ziv, Elad E; Neuhausen, Susan L SL

Publication Date: 2020-06-01

Variant appearance in text: rs6964587

PubMed Link: 31553449

Variant Present in the following documents:

• djz174_supplementary_data.pdf

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: AKAP9: 1389G>T; M463I

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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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: AKAP9: M463I; rs6964587

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10

View BVdb publication page

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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: AKAP9: 1389G>T; rs6964587

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

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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: AKAP9: M463I; rs6964587

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: AKAP9: 1389G>T; Met463Ile; rs6964587

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1

View BVdb publication page

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Exome sequencing of 85 Williams-Beuren syndrome cases rules out coding variation as a major contributor to remaining variance in social behavior.

Molecular Genetics & Genomic Medicine

Kopp, Nathan D ND; Parrish, Phoebe C R PCR; Lugo, Michael M; Dougherty, Joseph D JD; Kozel, Beth A BA

Publication Date: 2018-09

Variant appearance in text: AKAP9: M463I; rs6964587

PubMed Link: 30008175

Variant Present in the following documents:

• MGG3-6-749-s004.xlsx, sheet 1

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: AKAP9: 1389G>T; M463I; rs6964587

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7

View BVdb publication page

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Genetic Modifiers of the Breast Tumor Microenvironment.

Trends In Cancer

Flister, Michael J MJ; Bergom, Carmen C

Publication Date: 2018-06

Variant appearance in text: rs6964587

PubMed Link: 29860987

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: AKAP9: 1389G>T; Met463Ile; rs6964587

PubMed Link: 29510755

Variant Present in the following documents:

• 12920_2018_338_MOESM6_ESM.xlsx, sheet 3

View BVdb publication page

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Common Genetic Variation and Breast Cancer Risk-Past, Present, and Future.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Lilyquist, Jenna J; Ruddy, Kathryn J KJ; Vachon, Celine M CM; Couch, Fergus J FJ

Publication Date: 2018-04

Variant appearance in text: rs6964587

PubMed Link: 29382703

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polymorphisms/Mutations in A-Kinase Anchoring Proteins (AKAPs): Role in the Cardiovascular System.

Journal Of Cardiovascular Development And Disease

Suryavanshi, Santosh V SV; Jadhav, Shweta M SM; McConnell, Bradley K BK

Publication Date: 2018-01-25

Variant appearance in text: AKAP9: M463I; rs6964587

PubMed Link: 29370121

Variant Present in the following documents:

• Main text
• jcdd-05-00007.pdf

View BVdb publication page

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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: AKAP9: M463I; rs6964587

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

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Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine

Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T

Publication Date: 2017-07-18

Variant appearance in text: AKAP9: M463I

PubMed Link: 28716134

Variant Present in the following documents:

• 13073_2017_454_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Tobacco habituated and non-habituated subjects exhibit different mutational spectrums in head and neck squamous cell carcinoma.

3 Biotech

Rawal, Rakesh M RM; Joshi, Madhvi N MN; Bhargava, Poonam P; Shaikh, Inayat I; Pandit, Aanal S AS; Patel, Riddhi P RP; Patel, Shanaya S; Kothari, Kiran K; Shah, Manoj M; Saxena, Akshay A; Bagatharia, Snehal B SB

Publication Date: 2015-10

Variant appearance in text: AKAP9: M463I

PubMed Link: 28324520

Variant Present in the following documents:

• 13205_2014_267_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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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: AKAP9: M463I; rs6964587

PubMed Link: 27512948

Variant Present in the following documents:

• PATH-240-315-s015.xlsx, sheet 1

View BVdb publication page

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The Relationship between Common Genetic Markers of Breast Cancer Risk and Chemotherapy-Induced Toxicity: A Case-Control Study.

Plos One

Dorling, Leila L; Kar, Siddhartha S; Michailidou, Kyriaki K; Hiller, Louise L; Vallier, Anne-Laure AL; Ingle, Susan S; Hardy, Richard R; Bowden, Sarah J SJ; Dunn, Janet A JA; Twelves, Chris C; Poole, Christopher J CJ; Caldas, Carlos C; Earl, Helena M HM; Pharoah, Paul D P PD; Abraham, Jean E JE

Publication Date: 2016

Variant appearance in text: rs6964587

PubMed Link: 27392074

Variant Present in the following documents:

• Main text
• pone.0158984.pdf

View BVdb publication page

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Clonal relationships between lobular carcinoma in situ and other breast malignancies.

Breast Cancer Research : Bcr

Begg, Colin B CB; Ostrovnaya, Irina I; Carniello, Jose V Scarpa JV; Sakr, Rita A RA; Giri, Dilip D; Towers, Russell R; Schizas, Michail M; De Brot, Marina M; Andrade, Victor P VP; Mauguen, Audrey A; Seshan, Venkatraman E VE; King, Tari A TA

Publication Date: 2016-06-23

Variant appearance in text: AKAP9: M463I

PubMed Link: 27334989

Variant Present in the following documents:

• 13058_2016_727_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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AKAP-9 promotes colorectal cancer development by regulating Cdc42 interacting protein 4.

Biochimica Et Biophysica Acta

Hu, Zhi-Yan ZY; Liu, Yan-Ping YP; Xie, Lin-Ying LY; Wang, Xiao-Yan XY; Yang, Fang F; Chen, Shi-You SY; Li, Zu-Guo ZG

Publication Date: 2016-06

Variant appearance in text: AKAP9: M463I

PubMed Link: 27039663

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: rs6964587

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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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: AKAP9: M463I; rs6964587

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

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Patients with a High Polygenic Risk of Breast Cancer do not have An Increased Risk of Radiotherapy Toxicity.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Dorling, Leila L; Barnett, Gillian C GC; Michailidou, Kyriaki K; Coles, Charlotte E CE; Burnet, Neil G NG; Yarnold, John J; Elliott, Rebecca M RM; Dunning, Alison M AM; Pharoah, Paul D P PD; West, Catharine M CM

Publication Date: 2016-03-15

Variant appearance in text: rs6964587

PubMed Link: 26510858

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.

Human Genomics

Karageorgos, Ioannis I; Mizzi, Clint C; Giannopoulou, Efstathia E; Pavlidis, Cristiana C; Peters, Brock A BA; Zagoriti, Zoi Z; Stenson, Peter D PD; Mitropoulos, Konstantinos K; Borg, Joseph J; Kalofonos, Haralabos P HP; Drmanac, Radoje R; Stubbs, Andrew A; van der Spek, Peter P; Cooper, David N DN; Katsila, Theodora T; Patrinos, George P GP

Publication Date: 2015-06-20

Variant appearance in text: AKAP9: 1389G>T; M463I; rs6964587

PubMed Link: 26092435

Variant Present in the following documents:

• 40246_2015_34_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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