Publications:

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Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: ADORA1: A102A; rs2228079

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

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: ADORA1: A102A; rs2228079

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: ADORA1: 306T>G; Ala102Ala

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: ADORA1: A102A

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_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: ADORA1: A102A; rs2228079

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

View BVdb publication page

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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: ADORA1: A102A; rs2228079

PubMed Link: 35768426

Variant Present in the following documents:

• 41531_2022_346_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Neurotoxicity Associated with Treatment of Acute Lymphoblastic Leukemia Chemotherapy and Immunotherapy.

International Journal Of Molecular Sciences

Śliwa-Tytko, Patrycja P; Kaczmarska, Agnieszka A; Lejman, Monika M; Zawitkowska, Joanna J

Publication Date: 2022-05-15

Variant appearance in text: rs2228079

PubMed Link: 35628334

Variant Present in the following documents:

• Main text
• ijms-23-05515.pdf

View BVdb publication page

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International Union of Basic and Clinical Pharmacology. CXII: Adenosine Receptors: A Further Update.

Pharmacological Reviews

IJzerman, Adriaan P AP; Jacobson, Kenneth A KA; Müller, Christa E CE; Cronstein, Bruce N BN; Cunha, Rodrigo A RA

Publication Date: 2022-04

Variant appearance in text: rs2228079

PubMed Link: 35302044

Variant Present in the following documents:

• pharmrev.121.000445.pdf

View BVdb publication page

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Genophenotypic Factors and Pharmacogenomics in Adverse Drug Reactions.

International Journal Of Molecular Sciences

Cacabelos, Ramón R; Naidoo, Vinogran V; Corzo, Lola L; Cacabelos, Natalia N; Carril, Juan C JC

Publication Date: 2021-12-10

Variant appearance in text: rs2228079

PubMed Link: 34948113

Variant Present in the following documents:

• Main text
• ijms-22-13302.pdf

View BVdb publication page

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Genophenotypic Factors and Pharmacogenomics in Adverse Drug Reactions.

International Journal Of Molecular Sciences

Cacabelos, Ramón R; Naidoo, Vinogran V; Corzo, Lola L; Cacabelos, Natalia N; Carril, Juan C JC

Publication Date: 2021-12-10

Variant appearance in text: rs2228079

PubMed Link: 34948113

Variant Present in the following documents:

• Main text
• ijms-22-13302.pdf

View BVdb publication page

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Generalized and social anxiety disorder interactomes show distinctive overlaps with striosome and matrix interactomes.

Scientific Reports

Karunakaran, Kalyani B KB; Amemori, Satoko S; Balakrishnan, N N; Ganapathiraju, Madhavi K MK; Amemori, Ken-Ichi KI

Publication Date: 2021-09-15

Variant appearance in text: rs2228079

PubMed Link: 34526518

Variant Present in the following documents:

• 41598_2021_Article_97418.pdf

View BVdb publication page

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Adenosine A2A Receptors as Biomarkers of Brain Diseases.

Frontiers In Neuroscience

Moreira-de-Sá, Ana A; Lourenço, Vanessa S VS; Canas, Paula M PM; Cunha, Rodrigo A RA

Publication Date: 2021

Variant appearance in text: rs2228079

PubMed Link: 34335174

Variant Present in the following documents:

• fnins-15-702581.pdf

View BVdb publication page

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Advanced bioinformatic analysis and pathway prediction of NSCLC cells upon cisplatin resistance.

Scientific Reports

Hossian, A K M Nawshad AKMN; Zahra, Fatema Tuz FT; Poudel, Sagun S; Abshire, Camille F CF; Polk, Paula P; Garai, Jone J; Zabaleta, Jovanny J; Mikelis, Constantinos M CM; Mattheolabakis, George G

Publication Date: 2021-03-22

Variant appearance in text: ADORA1: 306T>G; Ala102Ala

PubMed Link: 33753779

Variant Present in the following documents:

• 41598_2021_85930_MOESM7_ESM.xlsx, sheet 1

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: ADORA1: 306T>G; A102A

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

View BVdb publication page

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Association of a Variant of CNR1 Gene Encoding Cannabinoid Receptor 1 With Gilles de la Tourette Syndrome.

Frontiers In Genetics

Szejko, Natalia N; Fichna, Jakub Piotr JP; Safranow, Krzysztof K; Dziuba, Tomasz T; Żekanowski, Cezary C; Janik, Piotr P

Publication Date: 2020

Variant appearance in text: rs2228079

PubMed Link: 32194619

Variant Present in the following documents:

• fgene-11-00125.pdf

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: ADORA1: A102A; rs2228079

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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A pan-cancer analysis of synonymous mutations.

Nature Communications

Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S

Publication Date: 2019-06-12

Variant appearance in text: ADORA1: 306T>G

PubMed Link: 31189880

Variant Present in the following documents:

• 41467_2019_10489_MOESM7_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: rs2228079

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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Progress in Genetic Studies of Tourette's Syndrome.

Brain Sciences

Qi, Yanjie Y; Zheng, Yi Y; Li, Zhanjiang Z; Xiong, Lan L

Publication Date: 2017-10-20

Variant appearance in text: rs2228079

PubMed Link: 29053637

Variant Present in the following documents:

• Main text
• brainsci-07-00134.pdf

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: rs2228079

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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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: ADORA1: A102A; rs2228079

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

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From Genetics to Epigenetics: New Perspectives in Tourette Syndrome Research.

Frontiers In Neuroscience

Pagliaroli, Luca L; Vető, Borbála B; Arányi, Tamás T; Barta, Csaba C

Publication Date: 2016

Variant appearance in text: rs2228079

PubMed Link: 27462201

Variant Present in the following documents:

• Main text
• fnins-10-00277.pdf

View BVdb publication page

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Association of ADORA1 rs2228079 and ADORA2A rs5751876 Polymorphisms with Gilles de la Tourette Syndrome in the Polish Population.

Plos One

Janik, Piotr P; Berdyński, Mariusz M; Safranow, Krzysztof K; Żekanowski, Cezary C

Publication Date: 2015

Variant appearance in text: ADORA1: 306T>G; A102A; rs2228079

PubMed Link: 26317759

Variant Present in the following documents:

• Main text
• pone.0136754.pdf

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: ADORA1: A102A

PubMed Link: 25944692

Variant Present in the following documents:

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

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: ADORA1: A102A

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Unraveling the genetic basis of aspirin hypersensitivity in asthma beyond arachidonate pathways.

Allergy, Asthma & Immunology Research

Park, Se-Min SM; Park, Jong Sook JS; Park, Hae-Sim HS; Park, Choon-Sik CS

Publication Date: 2013-09

Variant appearance in text: ADORA1: A102A

PubMed Link: 24003382

Variant Present in the following documents:

• Main text
• aair-5-258.pdf

View BVdb publication page

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International Union of Basic and Clinical Pharmacology. LXXXI. Nomenclature and classification of adenosine receptors--an update.

Pharmacological Reviews

Fredholm, Bertil B BB; IJzerman, Adriaan P AP; Jacobson, Kenneth A KA; Linden, Joel J; Müller, Christa E CE

Publication Date: 2011-03

Variant appearance in text: ADORA1: A102A

PubMed Link: 21303899

Variant Present in the following documents:

• Main text

View BVdb publication page

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Positive association between aspirin-intolerant asthma and genetic polymorphisms of FSIP1: a case-case study.

Bmc Pulmonary Medicine

Kim, Jason Yongha JY; Kim, Jeong Hyun JH; Park, Tae Joon TJ; Bae, Joon Seol JS; Lee, Jin Sol JS; Pasaje, Charisse Flerida CF; Park, Byung Lae BL; Cheong, Hyun Sub HS; Park, Jong-Sook JS; Park, Sung-Woo SW; Uh, Soo-Taek ST; Kim, Mi-Kyeong MK; Choi, Inseon S IS; Cho, Sang Heon SH; Choi, Byoung Whui BW; Park, Choon-Sik CS; Shin, Hyoung Doo HD

Publication Date: 2010-06-01

Variant appearance in text: ADORA1: A102A

PubMed Link: 20513247

Variant Present in the following documents:

• Main text
• 1471-2466-10-34.pdf

View BVdb publication page

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