Publications:

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Immunogenetics and pharmacogenetics of allergic asthma in Africa.

Frontiers In Allergy

Mabelane, Tshegofatso T; Masekela, Refiloe R; Dandara, Collet C; Hadebe, Sabelo S

Publication Date: 2023

Variant appearance in text: rs2230739

PubMed Link: 37228580

Variant Present in the following documents:

• Main text
• falgy-04-1165311.pdf

View BVdb publication page

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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: ADCY9: I772M

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-25

Variant appearance in text: ADCY9: I772M; rs2230739

PubMed Link: 36966136

Variant Present in the following documents:

• 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Gαs, adenylyl cyclase, and their relationship to the diagnosis and treatment of depression.

Frontiers In Pharmacology

Schappi, Jeffrey M JM; Rasenick, Mark M MM

Publication Date: 2022

Variant appearance in text: AC9: Ile772Met

PubMed Link: 36467104

Variant Present in the following documents:

• Main text
• fphar-13-1012778.pdf

View BVdb publication page

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JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research

Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K

Publication Date: 2022-11-21

Variant appearance in text: ADCY9: 2316A>G; I772M; rs2230739

PubMed Link: 36409824

Variant Present in the following documents:

• can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1

View BVdb publication page

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The Genetic Factors of the Airway Epithelium Associated with the Pathology of Asthma.

Genes

Ranjbar, Maral M; Whetstone, Christiane E CE; Omer, Hafsa H; Power, Lucy L; Cusack, Ruth P RP; Gauvreau, Gail M GM

Publication Date: 2022-10-15

Variant appearance in text: rs2230739

PubMed Link: 36292755

Variant Present in the following documents:

• genes-13-01870.pdf

View BVdb publication page

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A stop-gain mutation in GXYLT1 promotes metastasis of colorectal cancer via the MAPK pathway.

Cell Death & Disease

Peng, Lin L; Zhao, Min M; Liu, Tianqi T; Chen, Jiangbo J; Gao, Pin P; Chen, Lei L; Xing, Pu P; Wang, Zaozao Z; Di, Jiabo J; Xu, Qiang Q; Qu, Hong H; Jiang, Beihai B; Su, Xiangqian X

Publication Date: 2022-04-22

Variant appearance in text: ADCY9: I772M

PubMed Link: 35459861

Variant Present in the following documents:

• 41419_2022_4844_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page

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Recent advances in pharmacogenomics research of anti-asthmatic drugs: a narrative review.

Annals Of Translational Medicine

Li, Jie J; Qiu, Chen C

Publication Date: 2022-03

Variant appearance in text: ADCY9: Ile772Met; rs2230739

PubMed Link: 35434004

Variant Present in the following documents:

• Main text
• atm-10-06-369.pdf

View BVdb publication page

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Structural basis of adenylyl cyclase 9 activation.

Nature Communications

Qi, Chao C; Lavriha, Pia P; Mehta, Ved V; Khanppnavar, Basavraj B; Mohammed, Inayathulla I; Li, Yong Y; Lazaratos, Michalis M; Schaefer, Jonas V JV; Dreier, Birgit B; Plückthun, Andreas A; Bondar, Ana-Nicoleta AN; Dessauer, Carmen W CW; Korkhov, Volodymyr M VM

Publication Date: 2022-02-24

Variant appearance in text: rs2230739

PubMed Link: 35210418

Variant Present in the following documents:

• Main text
• 41467_2022_Article_28685.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: ADCY9: I772M

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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Association between ADCY9 Gene Polymorphisms and Ritodrine Treatment Outcomes in Patients with Preterm Labor.

Pharmaceutics

Lee, Nari N; Yoon, Ha-Young HY; Park, Jin-Young JY; Kim, Young-Ju YJ; Hwang, Han-Sung HS; Yee, Jeong J; Gwak, Hye-Sun HS

Publication Date: 2021-10-10

Variant appearance in text: ADCY9: Ile772Met; rs2230739

PubMed Link: 34683946

Variant Present in the following documents:

• Main text
• pharmaceutics-13-01653.pdf

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: ADCY9: I772M

PubMed Link: 34673281

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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: ADCY9: I772M

PubMed Link: 34673281

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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: ADCY9: 2316A>G; I772M; rs2230739

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Genetic Susceptibility to Drug Teratogenicity: A Systematic Literature Review.

Frontiers In Genetics

Gomes, Julia do Amaral JDA; Olstad, Emilie Willoch EW; Kowalski, Thayne Woycinck TW; Gervin, Kristina K; Vianna, Fernanda Sales Luiz FSL; Schüler-Faccini, Lavínia L; Nordeng, Hedvig Marie Egeland HME

Publication Date: 2021

Variant appearance in text: rs2230739

PubMed Link: 33981330

Variant Present in the following documents:

• Main text

View BVdb publication page

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Role of Adenylate Cyclase 9 in the Pharmacogenomic Response to Dalcetrapib: Clinical Paradigm and Molecular Mechanisms in Precision Cardiovascular Medicine.

Circulation. Genomic And Precision Medicine

Rhainds, David D; Packard, Chris J CJ; Brodeur, Mathieu R MR; Niesor, Eric J EJ; Sacks, Frank M FM; Jukema, J Wouter JW; Wright, R Scott RS; Waters, David D DD; Heinonen, Therese T; Black, Donald M DM; Laghrissi-Thode, Fouzia F; Dubé, Marie-Pierre MP; Pfeffer, Marc A MA; Tardif, Jean-Claude JC

Publication Date: 2021-04

Variant appearance in text: rs2230739

PubMed Link: 33794646

Variant Present in the following documents:

• Main text

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: ADCY9: 2316A>G; I772M; rs2230739

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

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High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.

Ebiomedicine

Toulmonde, Maud M; Lucchesi, Carlo C; Verbeke, Stéphanie S; Crombe, Amandine A; Adam, Julien J; Geneste, Damien D; Chaire, Vanessa V; Laroche-Clary, Audrey A; Perret, Raul R; Bertucci, François F; Bertolo, Frederic F; Bianchini, Laurence L; Dadone-Montaudie, Bérengère B; Hembrough, Todd T; Sweet, Steve S; Kim, Yeoun Jin YJ; Cecchi, Fabiola F; Le Loarer, François F; Italiano, Antoine A

Publication Date: 2020-12

Variant appearance in text: ADCY9: 2316A>G; I772M; rs2230739

PubMed Link: 33254023

Variant Present in the following documents:

• mmc5.xlsx, sheet 1

View BVdb publication page

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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: ADCY9: I772M; rs2230739

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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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: rs2230739

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Pharmacogenetic Factors Affecting Asthma Treatment Response. Potential Implications for Drug Therapy.

Frontiers In Pharmacology

García-Menaya, Jesús Miguel JM; Cordobés-Durán, Concepción C; García-Martín, Elena E; Agúndez, José A G JAG

Publication Date: 2019

Variant appearance in text: ADCY9: I772M; rs2230739

PubMed Link: 31178722

Variant Present in the following documents:

• Main text
• fphar-10-00520.pdf

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: ADCY9: I772M; rs2230739

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12

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: ADCY9: 2316A>G; Ile772Met; rs2230739

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

View BVdb publication page

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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: ADCY9: I772M; rs2230739

PubMed Link: 30389958

Variant Present in the following documents:

• 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2

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: ADCY9: 2316A>G; Ile772Met; rs2230739

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

View BVdb publication page

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Human candidate gene polymorphisms and risk of severe malaria in children in Kilifi, Kenya: a case-control association study.

The Lancet. Haematology

Ndila, Carolyne M CM; Uyoga, Sophie S; Macharia, Alexander W AW; Nyutu, Gideon G; Peshu, Norbert N; Ojal, John J; Shebe, Mohammed M; Awuondo, Kennedy O KO; Mturi, Neema N; Tsofa, Benjamin B; Sepúlveda, Nuno N; Clark, Taane G TG; Band, Gavin G; Clarke, Geraldine G; Rowlands, Kate K; Hubbart, Christina C; Jeffreys, Anna A; Kariuki, Silvia S; Marsh, Kevin K; Mackinnon, Margaret M; Maitland, Kathryn K; Kwiatkowski, Dominic P DP; Rockett, Kirk A KA; Williams, Thomas N TN; ,

Publication Date: 2018-08

Variant appearance in text: rs2230739

PubMed Link: 30033078

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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Translational Systems Pharmacology Studies in Pregnant Women.

Cpt: Pharmacometrics & Systems Pharmacology

Quinney, Sara K SK; Gullapelli, Rakesh R; Haas, David M DM

Publication Date: 2018-02

Variant appearance in text: rs2230739

PubMed Link: 29239132

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs2230739

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Differential effects of hydrocortisone, prednisone, and dexamethasone on hormonal and pharmacokinetic profiles: a pilot study in children with congenital adrenal hyperplasia.

International Journal Of Pediatric Endocrinology

Nebesio, Todd D TD; Renbarger, Jamie L JL; Nabhan, Zeina M ZM; Ross, Sydney E SE; Slaven, James E JE; Li, Lang L; Walvoord, Emily C EC; Eugster, Erica A EA

Publication Date: 2016

Variant appearance in text: rs2230739

PubMed Link: 27688786

Variant Present in the following documents:

• Main text
• 13633_2016_Article_35.pdf

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: ADCY9: I772M; rs2230739

PubMed Link: 27512948

Variant Present in the following documents:

• PATH-240-315-s015.xlsx, sheet 1

View BVdb publication page

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[Research advances in gene polymorphisms in biological pathways of drugs for asthma].

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal Of Contemporary Pediatrics

Guo, Dan-Dan DD; Zheng, Xiang-Rong XR

Publication Date: 2016-06

Variant appearance in text: rs2230739

PubMed Link: 27324549

Variant Present in the following documents:

• Main text

View BVdb publication page

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Gene integrated set profile analysis: a context-based approach for inferring biological endpoints.

Nucleic Acids Research

Kowalski, Jeanne J; Dwivedi, Bhakti B; Newman, Scott S; Switchenko, Jeffery M JM; Pauly, Rini R; Gutman, David A DA; Arora, Jyoti J; Gandhi, Khanjan K; Ainslie, Kylie K; Doho, Gregory G; Qin, Zhaohui Z; Moreno, Carlos S CS; Rossi, Michael R MR; Vertino, Paula M PM; Lonial, Sagar S; Bernal-Mizrachi, Leon L; Boise, Lawrence H LH

Publication Date: 2016-04-20

Variant appearance in text: ADCY9: I772M; rs2230739

PubMed Link: 26826710

Variant Present in the following documents:

• supp_gkv1503_nar-01927-met-n-2015-File009.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: ADCY9: I772M

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

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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: ADCY9: I772M; rs2230739

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page

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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: ADCY9: I772M; rs2230739

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s2.xls, sheet 1

View BVdb publication page

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Asthma pharmacogenetics and the development of genetic profiles for personalized medicine.

Pharmacogenomics And Personalized Medicine

Ortega, Victor E VE; Meyers, Deborah A DA; Bleecker, Eugene R ER

Publication Date: 2015

Variant appearance in text: ADCY9: Ile772Met; rs2230739

PubMed Link: 25691813

Variant Present in the following documents:

• Main text
• pgpm-8-009.pdf

View BVdb publication page

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No association between a polymorphism of the adenylate cyclase type IX gene and major depressive disorder in the Chinese Han population.

Neural Regeneration Research

Cao, Suxia S; Zhao, Xiaofeng X; Li, Hengfen H

Publication Date: 2012-08-25

Variant appearance in text: rs2230739

PubMed Link: 25624819

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: ADCY9: I772M

PubMed Link: 25496518

Variant Present in the following documents:

• 40246_2014_20_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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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: ADCY9: I772M; rs2230739

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Is personalized medicine achievable in obstetrics?

Seminars In Perinatology

Quinney, Sara K SK; Patil, Avinash S AS; Flockhart, David A DA

Publication Date: 2014-12

Variant appearance in text: rs2230739

PubMed Link: 25282474

Variant Present in the following documents:

• Main text

View BVdb publication page

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Reappraisal of known malaria resistance loci in a large multicenter study.

Nature Genetics

, ; ,

Publication Date: 2014-11

Variant appearance in text: rs2230739

PubMed Link: 25261933

Variant Present in the following documents:

• NIHMS626188-supplement-2.pdf

View BVdb publication page

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Association of candidate gene polymorphisms and TGF-beta/IL-10 levels with malaria in three regions of Cameroon: a case-control study.

Malaria Journal

Apinjoh, Tobias O TO; Anchang-Kimbi, Judith K JK; Njua-Yafi, Clarisse C; Ngwai, André N AN; Mugri, Regina N RN; Clark, Taane G TG; Rockett, Kirk A KA; Kwiatkowski, Dominic P DP; Achidi, Eric A EA; ,

Publication Date: 2014-06-16

Variant appearance in text: rs2230739

PubMed Link: 24934404

Variant Present in the following documents:

• Main text
• 1475-2875-13-236.pdf

View BVdb publication page

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Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations.

Nature Genetics

Buczkowicz, Pawel P; Hoeman, Christine C; Rakopoulos, Patricia P; Pajovic, Sanja S; Letourneau, Louis L; Dzamba, Misko M; Morrison, Andrew A; Lewis, Peter P; Bouffet, Eric E; Bartels, Ute U; Zuccaro, Jennifer J; Agnihotri, Sameer S; Ryall, Scott S; Barszczyk, Mark M; Chornenkyy, Yevgen Y; Bourgey, Mathieu M; Bourque, Guillaume G; Montpetit, Alexandre A; Cordero, Francisco F; Castelo-Branco, Pedro P; Mangerel, Joshua J; Tabori, Uri U; Ho, King Ching KC; Huang, Annie A; Taylor, Kathryn R KR; Mackay, Alan A; Bendel, Anne E AE; Nazarian, Javad J; Fangusaro, Jason R JR; Karajannis, Matthias A MA; Zagzag, David D; Foreman, Nicholas K NK; Donson, Andrew A; Hegert, Julia V JV; Smith, Amy A; Chan, Jennifer J; Lafay-Cousin, Lucy L; Dunn, Sandra S; Hukin, Juliette J; Dunham, Chris C; Scheinemann, Katrin K; Michaud, Jean J; Zelcer, Shayna S; Ramsay, David D; Cain, Jason J; Brennan, Cameron C; Souweidane, Mark M MM; Jones, Chris C; Allis, C David CD; Brudno, Michael M; Becher, Oren O; Hawkins, Cynthia C

Publication Date: 2014-05

Variant appearance in text: ADCY9: I772M

PubMed Link: 24705254

Variant Present in the following documents:

• NIHMS4215-supplement-10.xlsx, sheet 2

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Pharmacogenetics: implications of race and ethnicity on defining genetic profiles for personalized medicine.

The Journal Of Allergy And Clinical Immunology

Ortega, Victor E VE; Meyers, Deborah A DA

Publication Date: 2014-01

Variant appearance in text: rs2230739

PubMed Link: 24369795

Variant Present in the following documents:

• Main text

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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: ADCY9: I772M; rs2230739

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD2.xlsx, sheet 1

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A genome-wide association study of bronchodilator response in Latinos implicates rare variants.

The Journal Of Allergy And Clinical Immunology

Drake, Katherine A KA; Torgerson, Dara G DG; Gignoux, Christopher R CR; Galanter, Joshua M JM; Roth, Lindsey A LA; Huntsman, Scott S; Eng, Celeste C; Oh, Sam S SS; Yee, Sook Wah SW; Lin, Lawrence L; Bustamante, Carlos D CD; Moreno-Estrada, Andrés A; Sandoval, Karla K; Davis, Adam A; Borrell, Luisa N LN; Farber, Harold J HJ; Kumar, Rajesh R; Avila, Pedro C PC; Brigino-Buenaventura, Emerita E; Chapela, Rocio R; Ford, Jean G JG; Lenoir, Michael A MA; Lurmann, Fred F; Meade, Kelley K; Serebrisky, Denise D; Thyne, Shannon S; Rodríguez-Cintrón, William W; Sen, Saunak S; Rodríguez-Santana, José R JR; Hernandez, Ryan D RD; Giacomini, Kathleen M KM; Burchard, Esteban G EG

Publication Date: 2014-02

Variant appearance in text: rs2230739

PubMed Link: 23992748

Variant Present in the following documents:

• Main text

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Pharmacogenetics and the development of personalized approaches for combination therapy in asthma.

Current Allergy And Asthma Reports

Miller, Stacey M SM; Ortega, Victor E VE

Publication Date: 2013-10

Variant appearance in text: rs2230739

PubMed Link: 23912588

Variant Present in the following documents:

• Main text

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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: rs2230739

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

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Genome-wide association study identifies TH1 pathway genes associated with lung function in asthmatic patients.

The Journal Of Allergy And Clinical Immunology

Li, Xingnan X; Hawkins, Gregory A GA; Ampleford, Elizabeth J EJ; Moore, Wendy C WC; Li, Huashi H; Hastie, Annette T AT; Howard, Timothy D TD; Boushey, Homer A HA; Busse, William W WW; Calhoun, William J WJ; Castro, Mario M; Erzurum, Serpil C SC; Israel, Elliot E; Lemanske, Robert F RF; Szefler, Stanley J SJ; Wasserman, Stephen I SI; Wenzel, Sally E SE; Peters, Stephen P SP; Meyers, Deborah A DA; Bleecker, Eugene R ER

Publication Date: 2013-08

Variant appearance in text: ADCY9: Ile772Met; rs2230739

PubMed Link: 23541324

Variant Present in the following documents:

• Main text

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A genome-wide association study of bronchodilator response in asthmatics.

The Pharmacogenomics Journal

Duan, Q L QL; Lasky-Su, J J; Himes, B E BE; Qiu, W W; Litonjua, A A AA; Damask, A A; Lazarus, R R; Klanderman, B B; Irvin, C G CG; Peters, S P SP; Hanrahan, J P JP; Lima, J J JJ; Martinez, F D FD; Mauger, D D; Chinchilli, V M VM; Soto-Quiros, M M; Avila, L L; Celedón, J C JC; Lange, C C; Weiss, S T ST; Tantisira, K G KG

Publication Date: 2014-02

Variant appearance in text: rs2230739

PubMed Link: 23508266

Variant Present in the following documents:

• Main text
• nihms442409.pdf

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Pharmacogenomics in children: advantages and challenges of next generation sequencing applications.

International Journal Of Pediatrics

Vanakker, O M OM; De Paepe, A A

Publication Date: 2013

Variant appearance in text: AC9: Ile772Met

PubMed Link: 23401694

Variant Present in the following documents:

• Main text

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Candidate human genetic polymorphisms and severe malaria in a Tanzanian population.

Plos One

Manjurano, Alphaxard A; Clark, Taane G TG; Nadjm, Behzad B; Mtove, George G; Wangai, Hannah H; Sepulveda, Nuno N; Campino, Susana G SG; Maxwell, Caroline C; Olomi, Raimos R; Rockett, Kirk R KR; Jeffreys, Anna A; , ; Riley, Eleanor M EM; Reyburn, Hugh H; Drakeley, Christopher C

Publication Date: 2012

Variant appearance in text: rs2230739

PubMed Link: 23144702

Variant Present in the following documents:

• Main text

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Integrative systems biology approaches in asthma pharmacogenomics.

Pharmacogenomics

Dahlin, Amber A; Tantisira, Kelan G KG

Publication Date: 2012-09

Variant appearance in text: AC9: Ile772Met; rs2230739

PubMed Link: 22966888

Variant Present in the following documents:

• Main text

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Candidate polymorphisms and severe malaria in a Malian population.

Plos One

Toure, Ousmane O; Konate, Salimata S; Sissoko, Sibiri S; Niangaly, Amadou A; Barry, Abdoulaye A; Sall, Abdourahmane H AH; Diarra, Elisabeth E; Poudiougou, Belco B; Sepulveda, Nuno N; Campino, Susana S; Rockett, Kirk A KA; Clark, Taane G TG; Thera, Mahamadou A MA; Doumbo, Ogobara O; ,

Publication Date: 2012

Variant appearance in text: rs2230739

PubMed Link: 22957039

Variant Present in the following documents:

• Main text

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The relationship between single nucleotide polymorphisms in 5-HT2A signal transduction-related genes and the response efficacy to selective serotonin reuptake inhibitor treatments in Chinese patients with major depressive disorder.

Genetic Testing And Molecular Biomarkers

Li, Heng-Fen HF; Yu, Xue X; Yang, Kun K; He, Cha-Ye CY; Kou, Shao-Jie SJ; Cao, Su-Xia SX; Xie, Guang-Rong GR

Publication Date: 2012-07

Variant appearance in text: rs2230739

PubMed Link: 22480177

Variant Present in the following documents:

• Main text

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The impact of drug metabolizing enzyme polymorphisms on outcomes after antenatal corticosteroid use.

American Journal Of Obstetrics And Gynecology

Haas, David M DM; Lehmann, Amalia S AS; Skaar, Todd T; Philips, Santosh S; McCormick, Catherine L CL; Beagle, Kyle K; Hebbring, Scott J SJ; Dantzer, Jessica J; Li, Lang L; Jung, Jeesun J

Publication Date: 2012-05

Variant appearance in text: rs2230739

PubMed Link: 22445700

Variant Present in the following documents:

• Main text

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Host candidate gene polymorphisms and clearance of drug-resistant Plasmodium falciparum parasites.

Malaria Journal

Diakite, Mahamadou M; Achidi, Eric A EA; Achonduh, Olivia O; Craik, Rachel R; Djimde, Abdoulaye A AA; Evehe, Marie-Solange B MS; Green, Angie A; Hubbart, Christina C; Ibrahim, Muntasir M; Jeffreys, Anna A; Khan, Baldip K BK; Kimani, Francis F; Kwiatkowski, Dominic P DP; Mbacham, Wilfred F WF; Jezan, Sabah Omar SO; Ouedraogo, Jean Bosco JB; Rockett, Kirk K; Rowlands, Kate K; Tagelsir, Nawal N; Tekete, Mamadou M MM; Zongo, Issaka I; Ranford-Cartwright, Lisa C LC

Publication Date: 2011-08-25

Variant appearance in text: rs2230739

PubMed Link: 21867552

Variant Present in the following documents:

• 1475-2875-10-250.pdf

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Candidate malaria susceptibility/protective SNPs in hospital and population-based studies: the effect of sub-structuring.

Malaria Journal

Eid, Nahid A NA; Hussein, Aymen A AA; Elzein, Abier M AM; Mohamed, Hiba S HS; Rockett, Kirk A KA; Kwiatkowski, Dominic P DP; Ibrahim, Muntaser E ME

Publication Date: 2010-05-08

Variant appearance in text: rs2230739

PubMed Link: 20459687

Variant Present in the following documents:

• Main text
• 1475-2875-9-119.pdf

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Further evidence supporting a role for gs signal transduction in severe malaria pathogenesis.

Plos One

Auburn, Sarah S; Fry, Andrew E AE; Clark, Taane G TG; Campino, Susana S; Diakite, Mahamadou M; Green, Angela A; Richardson, Anna A; Jallow, Muminatou M; Sisay-Joof, Fatou F; Pinder, Margaret M; Molyneux, Malcolm E ME; Taylor, Terrie E TE; Haldar, Kasturi K; Rockett, Kirk A KA; Kwiatkowski, Dominic P DP

Publication Date: 2010-04-01

Variant appearance in text: rs2230739

PubMed Link: 20386734

Variant Present in the following documents:

• Main text

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Asthma from a pharmacogenomic point of view.

British Journal Of Pharmacology

Szalai, C C; Ungvári, I I; Pelyhe, L L; Tölgyesi, G G; Falus, A A

Publication Date: 2008-04

Variant appearance in text: ADCY9: Ile772Met

PubMed Link: 18311188

Variant Present in the following documents:

• Main text

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