Publications:

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Down-regulation of ERAP1 mRNA expression in non-small cell lung cancer.

Bmc Cancer

Wagner, Marta M; Sobczyński, Maciej M; Jasek, Monika M; Pawełczyk, Konrad K; Porębska, Irena I; Kuśnierczyk, Piotr P; Wiśniewski, Andrzej A

Publication Date: 2023-04-26

Variant appearance in text: ERAP1: Ala356Ala; rs27434

PubMed Link: 37101107

Variant Present in the following documents:

• Main text
• 12885_2023_Article_10785.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: ERAP1: A356A; rs27434

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.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: ERAP1: A356A

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM2_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: ERAP1: A356A

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Risk of Ankylosing Spondylitis in Patients With Endometriosis: A Population-Based Retrospective Cohort Study.

Frontiers In Immunology

Yin, Zhihua Z; Low, Hui-Ying HY; Chen, Brian Shiian BS; Huang, Kuo-Shu KS; Zhang, Yue Y; Wang, Yu-Hsun YH; Ye, Zhizhong Z; Wei, James Cheng-Chung JC

Publication Date: 2022

Variant appearance in text: rs27434

PubMed Link: 35784295

Variant Present in the following documents:

• Main text
• fimmu-13-877942.pdf

View BVdb publication page

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Searching for New Genetic Biomarkers of Axial Spondyloarthritis.

Journal Of Clinical Medicine

Bugaj, Bartosz B; Wielińska, Joanna J; Bogunia-Kubik, Katarzyna K; Świerkot, Jerzy J

Publication Date: 2022-05-20

Variant appearance in text: rs27434

PubMed Link: 35629038

Variant Present in the following documents:

• Main text
• jcm-11-02912.pdf

View BVdb publication page

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Transcriptome-Wide Association Studies and Integration Analysis of mRNA Expression Profiles Identify Candidate Genes and Pathways Associated With Ankylosing Spondylitis.

Frontiers In Immunology

Feng, Ruoyang R; Lu, Mengnan M; Liu, Lin L; Xu, Ke K; Xu, Peng P

Publication Date: 2022

Variant appearance in text: rs27434

PubMed Link: 35619696

Variant Present in the following documents:

• Main text
• fimmu-13-814303.pdf

View BVdb publication page

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Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders.

Nature Neuroscience

Yang, Chengran C; Farias, Fabiana H G FHG; Ibanez, Laura L; Suhy, Adam A; Sadler, Brooke B; Fernandez, Maria Victoria MV; Wang, Fengxian F; Bradley, Joseph L JL; Eiffert, Brett B; Bahena, Jorge A JA; Budde, John P JP; Li, Zeran Z; Dube, Umber U; Sung, Yun Ju YJ; Mihindukulasuriya, Kathie A KA; Morris, John C JC; Fagan, Anne M AM; Perrin, Richard J RJ; Benitez, Bruno A BA; Rhinn, Herve H; Harari, Oscar O; Cruchaga, Carlos C

Publication Date: 2021-09

Variant appearance in text: ERAP1: A356A

PubMed Link: 34239129

Variant Present in the following documents:

• NIHMS1711548-supplement-supTables1to35.xlsx, sheet 4
• NIHMS1711548-supplement-supTables1to35.xlsx, sheet 5
• NIHMS1711548-supplement-supTables1to35.xlsx, sheet 6

View BVdb publication page

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Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders.

Nature Neuroscience

Yang, Chengran C; Farias, Fabiana H G FHG; Ibanez, Laura L; Suhy, Adam A; Sadler, Brooke B; Fernandez, Maria Victoria MV; Wang, Fengxian F; Bradley, Joseph L JL; Eiffert, Brett B; Bahena, Jorge A JA; Budde, John P JP; Li, Zeran Z; Dube, Umber U; Sung, Yun Ju YJ; Mihindukulasuriya, Kathie A KA; Morris, John C JC; Fagan, Anne M AM; Perrin, Richard J RJ; Benitez, Bruno A BA; Rhinn, Herve H; Harari, Oscar O; Cruchaga, Carlos C

Publication Date: 2021-09

Variant appearance in text: ERAP1: A356A

PubMed Link: 34239129

Variant Present in the following documents:

• NIHMS1711548-supplement-supTables1to35.xlsx, sheet 6
• NIHMS1711548-supplement-supTables1to35.xlsx, sheet 4
• NIHMS1711548-supplement-supTables1to35.xlsx, sheet 5

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: ERAP1: 1068T>C; rs27434

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.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: ERAP1: A356A; rs27434

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.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: N/A

PubMed Link: 33420045

Variant Present in the following documents:

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: ERAP1: 1068T>C

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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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: ERAP1: A356A; rs27434

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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New genetic predictors for abacavir tolerance in HLA-B*57:01 positive individuals.

Human Immunology

Pavlos, Rebecca R; Deshpande, Pooja P; Chopra, Abha A; Leary, Shay S; Strautins, Kaija K; Nolan, David D; Thorborn, Daren D; Shaefer, Mark M; Rauch, Andri A; Dunn, David D; Montaner, Julio J; Rachlis, Anita A; Almeida, Coral-Ann CA; Choo, Linda L; James, Ian I; Redwood, Alec J AJ; Li, Yueran Y; Gaudieri, Silvana S; Mallal, Simon A SA; Phillips, Elizabeth J EJ

Publication Date: 2020-06

Variant appearance in text: rs27434

PubMed Link: 32173028

Variant Present in the following documents:

• Main text

View BVdb publication page

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Deep sequence analysis of HIV adaptation following vertical transmission reveals the impact of immune pressure on the evolution of HIV.

Plos Pathogens

Currenti, Jennifer J; Chopra, Abha A; John, Mina M; Leary, Shay S; McKinnon, Elizabeth E; Alves, Eric E; Pilkinton, Mark M; Smith, Rita R; Barnett, Louise L; McDonnell, Wyatt J WJ; Lucas, Michaela M; Noel, Francine F; Mallal, Simon S; Conrad, Joseph A JA; Kalams, Spyros A SA; Gaudieri, Silvana S

Publication Date: 2019-12

Variant appearance in text: rs27434

PubMed Link: 31821379

Variant Present in the following documents:

• Main text
• ppat.1008177.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: ERAP1: A356A; rs27434

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_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: ERAP1: 1068T>C

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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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: rs27434

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2

View BVdb publication page

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Association between IL23R and ERAP1 polymorphisms and sacroiliac or spinal MRI inflammation in spondyloarthritis: DESIR cohort data.

Arthritis Research & Therapy

Ruyssen-Witrand, Adeline A; Luxembourger, Cécile C; Cantagrel, Alain A; Nigon, Delphine D; Claudepierre, Pascal P; Degboe, Yannick Y; Constantin, Arnaud A

Publication Date: 2019-01-15

Variant appearance in text: rs27434

PubMed Link: 30646942

Variant Present in the following documents:

• Main text

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: rs27434

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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Associations between ERAP1 polymorphisms and susceptibility to ankylosing spondylitis: A meta-analysis of East Asian Population.

Medicine

Jiang, Yuqing Y; Ren, Yi Y; Zhou, Dong D; Xu, Youjia Y

Publication Date: 2018-11

Variant appearance in text: rs27434

PubMed Link: 30461632

Variant Present in the following documents:

• Main text
• medi-97-e13263.pdf

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: ERAP1: 1068T>C; rs27434

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_6.xlsx, sheet 1
• Table_5.xlsx, sheet 1

View BVdb publication page

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Co-existence of endometriosis with 13 non-gynecological co-morbidities: Mutation analysis by whole exome sequencing.

Molecular Medicine Reports

Matalliotaki, Charoula C; Matalliotakis, Michail M; Zervou, Maria I MI; Trivli, Alexandra A; Matalliotakis, Ioannis I; Mavromatidis, George G; Spandidos, Demetrios A DA; Albertsen, Hans M HM; Chettier, Rakesh R; Ward, Kenneth K; Goulielmos, George N GN

Publication Date: 2018-12

Variant appearance in text: rs27434

PubMed Link: 30272298

Variant Present in the following documents:

• Main text

View BVdb publication page

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The role of polymorphic ERAP1 in autoinflammatory disease.

Bioscience Reports

Reeves, Emma E; James, Edward E

Publication Date: 2018-09-03

Variant appearance in text: rs27434

PubMed Link: 30054427

Variant Present in the following documents:

• Main text
• bsr-38-bsr20171503.pdf

View BVdb publication page

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An allelic variant in the intergenic region between ERAP1 and ERAP2 correlates with an inverse expression of the two genes.

Scientific Reports

Paladini, Fabiana F; Fiorillo, Maria Teresa MT; Vitulano, Carolina C; Tedeschi, Valentina V; Piga, Matteo M; Cauli, Alberto A; Mathieu, Alessandro A; Sorrentino, Rosa R

Publication Date: 2018-07-10

Variant appearance in text: rs27434

PubMed Link: 29991817

Variant Present in the following documents:

• Main text
• 41598_2018_Article_28799.pdf

View BVdb publication page

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Gene Variation of Endoplasmic Reticulum Aminopeptidases 1 and 2, and Risk of Blood Pressure Progression and Incident Hypertension among 17,255 Initially Healthy Women.

International Journal Of Genomics

Zee, Robert Y L RYL; Rivera, Alicia A; Inostroza, Yaritza Y; Ridker, Paul M PM; Chasman, Daniel I DI; Romero, Jose R JR

Publication Date: 2018

Variant appearance in text: rs27434

PubMed Link: 29850473

Variant Present in the following documents:

• Main text
• IJG2018-2308585.pdf

View BVdb publication page

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ERAP1/ERAP2 and RUNX3 polymorphisms are not associated with ankylosing spondylitis susceptibility in Chinese Han.

Clinical And Experimental Immunology

Su, W W; Du, L L; Liu, S S; Deng, J J; Cao, Q Q; Yuan, G G; Kijlstra, A A; Yang, P P

Publication Date: 2018-07

Variant appearance in text: rs27434

PubMed Link: 29480940

Variant Present in the following documents:

• Main text
• CEI-193-95.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: ERAP1: A356A; rs27434

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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Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling.

Human Molecular Genetics

Dand, Nick N; Mucha, Sören S; Tsoi, Lam C LC; Mahil, Satveer K SK; Stuart, Philip E PE; Arnold, Andreas A; Baurecht, Hansjörg H; Burden, A David AD; Callis Duffin, Kristina K; Chandran, Vinod V; Curtis, Charles J CJ; Das, Sayantan S; Ellinghaus, David D; Ellinghaus, Eva E; Enerback, Charlotta C; Esko, Tõnu T; Gladman, Dafna D DD; Griffiths, Christopher E M CEM; Gudjonsson, Johann E JE; Hoffman, Per P; Homuth, Georg G; Hüffmeier, Ulrike U; Krueger, Gerald G GG; Laudes, Matthias M; Lee, Sang Hyuck SH; Lieb, Wolfgang W; Lim, Henry W HW; Löhr, Sabine S; Mrowietz, Ulrich U; Müller-Nurayid, Martina M; Nöthen, Markus M; Peters, Annette A; Rahman, Proton P; Reis, André A; Reynolds, Nick J NJ; Rodriguez, Elke E; Schmidt, Carsten O CO; Spain, Sarah L SL; Strauch, Konstantin K; Tejasvi, Trilokraj T; Voorhees, John J JJ; Warren, Richard B RB; Weichenthal, Michael M; Weidinger, Stephan S; Zawistowski, Matthew M; Nair, Rajan P RP; Capon, Francesca F; Smith, Catherine H CH; Trembath, Richard C RC; Abecasis, Goncalo R GR; Elder, James T JT; Franke, Andre A; Simpson, Michael A MA; Barker, Jonathan N JN

Publication Date: 2017-11-01

Variant appearance in text: rs27434

PubMed Link: 28973304

Variant Present in the following documents:

• dand_exomewideassociationstudy_hmg_2017_supplementaryexcel_ddx328.xlsx, sheet 2

View BVdb publication page

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rs2841277 (PLD4) is associated with susceptibility and rs4672495 is associated with disease activity in rheumatoid arthritis.

Oncotarget

Chen, Wei-Chiao WC; Wang, Wen-Chang WC; Okada, Yukinori Y; Chang, Wei-Pin WP; Chou, Yii-Her YH; Chang, Hui-Hua HH; Huang, Jin-Ding JD; Chen, Der-Yuan DY; Chang, Wei-Chiao WC

Publication Date: 2017-09-08

Variant appearance in text: rs27434

PubMed Link: 28969061

Variant Present in the following documents:

• Main text

View BVdb publication page

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Bioinformatics analysis of genetic variants of endoplasmic reticulum aminopeptidase 1 in ankylosing spondylitis.

Molecular Medicine Reports

Wang, Xiaoli X; Ma, Jie J; Ma, Jianbing J; Wen, Yurong Y; Meng, Liesu L; Yang, Hao H; Zhang, Rui R; Hao, Dingjun D

Publication Date: 2017-11

Variant appearance in text: ERAP1: A356A; rs27434

PubMed Link: 28901420

Variant Present in the following documents:

• Main text
• mmr-16-05-6532.pdf

View BVdb publication page

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Association between ERAP1 gene polymorphisms and ankylosing spondylitis susceptibility in Han population.

International Journal Of Clinical And Experimental Pathology

Wang, Jian J; Li, Hang H; Wang, Jianwei J; Gao, Xiang X

Publication Date: 2015

Variant appearance in text: rs27434

PubMed Link: 26617903

Variant Present in the following documents:

• Main text

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: ERAP1: A356A; rs27434

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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Genome-wide analysis of the genetic regulation of gene expression in human neutrophils.

Nature Communications

Andiappan, Anand Kumar AK; Melchiotti, Rossella R; Poh, Tuang Yeow TY; Nah, Michelle M; Puan, Kia Joo KJ; Vigano, Elena E; Haase, Doreen D; Yusof, Nurhashikin N; San Luis, Boris B; Lum, Josephine J; Kumar, Dilip D; Foo, Shihui S; Zhuang, Li L; Vasudev, Anusha A; Irwanto, Astrid A; Lee, Bernett B; Nardin, Alessandra A; Liu, Hong H; Zhang, Furen F; Connolly, John J; Liu, Jianjun J; Mortellaro, Alessandra A; Wang, De Yun Y; Poidinger, Michael M; Larbi, Anis A; Zolezzi, Francesca F; Rotzschke, Olaf O

Publication Date: 2015-08-10

Variant appearance in text: rs27434

PubMed Link: 26259071

Variant Present in the following documents:

• ncomms8971-s1.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: ERAP1: A356A; rs27434

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 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: N/A

PubMed Link: 25496518

Variant Present in the following documents:

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: ERAP1: A356A; rs27434

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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rs10865331 associated with susceptibility and disease severity of ankylosing spondylitis in a Taiwanese population.

Plos One

Wen, Ya-Feng YF; Wei, James Cheng-Chung JC; Hsu, Yu-Wen YW; Chiou, Hung-Yi HY; Wong, Henry Sung-Ching HS; Wong, Ruey-Hong RH; Ikegawa, Shiro S; Chang, Wei-Chiao WC

Publication Date: 2014

Variant appearance in text: rs27434

PubMed Link: 25184745

Variant Present in the following documents:

• Main text

View BVdb publication page

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Heritability and genomics of gene expression in peripheral blood.

Nature Genetics

Wright, Fred A FA; Sullivan, Patrick F PF; Brooks, Andrew I AI; Zou, Fei F; Sun, Wei W; Xia, Kai K; Madar, Vered V; Jansen, Rick R; Chung, Wonil W; Zhou, Yi-Hui YH; Abdellaoui, Abdel A; Batista, Sandra S; Butler, Casey C; Chen, Guanhua G; Chen, Ting-Huei TH; D'Ambrosio, David D; Gallins, Paul P; Ha, Min Jin MJ; Hottenga, Jouke Jan JJ; Huang, Shunping S; Kattenberg, Mathijs M; Kochar, Jaspreet J; Middeldorp, Christel M CM; Qu, Ani A; Shabalin, Andrey A; Tischfield, Jay J; Todd, Laura L; Tzeng, Jung-Ying JY; van Grootheest, Gerard G; Vink, Jacqueline M JM; Wang, Qi Q; Wang, Wei W; Wang, Weibo W; Willemsen, Gonneke G; Smit, Johannes H JH; de Geus, Eco J EJ; Yin, Zhaoyu Z; Penninx, Brenda W J H BW; Boomsma, Dorret I DI

Publication Date: 2014-05

Variant appearance in text: rs27434

PubMed Link: 24728292

Variant Present in the following documents:

• NIHMS576016-supplement-1.pdf

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Common genetic variants modulate pathogen-sensing responses in human dendritic cells.

Science (New York, N.Y.)

Lee, Mark N MN; Ye, Chun C; Villani, Alexandra-Chloé AC; Raj, Towfique T; Li, Weibo W; Eisenhaure, Thomas M TM; Imboywa, Selina H SH; Chipendo, Portia I PI; Ran, F Ann FA; Slowikowski, Kamil K; Ward, Lucas D LD; Raddassi, Khadir K; McCabe, Cristin C; Lee, Michelle H MH; Frohlich, Irene Y IY; Hafler, David A DA; Kellis, Manolis M; Raychaudhuri, Soumya S; Zhang, Feng F; Stranger, Barbara E BE; Benoist, Christophe O CO; De Jager, Philip L PL; Regev, Aviv A; Hacohen, Nir N

Publication Date: 2014-03-07

Variant appearance in text: rs27434

PubMed Link: 24604203

Variant Present in the following documents:

• Main text

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Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio

Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M

Publication Date: 2014

Variant appearance in text: ERAP1: A356A; rs27434

PubMed Link: 24490137

Variant Present in the following documents:

• mmc5.xlsx, sheet 2

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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: ERAP1: A356A; rs27434

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD3.xlsx, sheet 1
• cas0105-0202-SD2.xlsx, sheet 1

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Ankylosing spondylitis: from cells to genes.

International Journal Of Inflammation

Zambrano-Zaragoza, José Francisco JF; Agraz-Cibrian, Juan Manuel JM; González-Reyes, Christian C; Durán-Avelar, Ma de Jesús Mde J; Vibanco-Pérez, Norberto N

Publication Date: 2013

Variant appearance in text: rs27434

PubMed Link: 23970995

Variant Present in the following documents:

• Main text

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Immunogenetic study in Chinese population with ankylosing spondylitis: are there specific genes recently disclosed?

Clinical & Developmental Immunology

Zhai, Jiayu J; Rong, Ju J; Li, Qiuxia Q; Gu, Jieruo J

Publication Date: 2013

Variant appearance in text: rs27434

PubMed Link: 23401698

Variant Present in the following documents:

• Main text
• CDI2013-419357.pdf

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Association study of polymorphisms rs4552569 and rs17095830 and the risk of ankylosing spondylitis in a Taiwanese population.

Plos One

Wei, James Cheng-Chung JC; Hsu, Yu-Wen YW; Hung, Kuo-Sheng KS; Wong, Ruey-Hong RH; Huang, Chun-Huang CH; Liu, Yi-Tzu YT; Guo, Yuh-Cherng YC; Ikegawa, Shiro S; Chang, Wei-Chiao WC

Publication Date: 2013

Variant appearance in text: rs27434

PubMed Link: 23308121

Variant Present in the following documents:

• Main text

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Reduced immunomodulation potential of bone marrow-derived mesenchymal stem cells induced CCR4+CCR6+ Th/Treg cell subset imbalance in ankylosing spondylitis.

Arthritis Research & Therapy

Wu, Yanfeng Y; Ren, Mingliang M; Yang, Rui R; Liang, Xinjun X; Ma, Yuanchen Y; Tang, Yong Y; Huang, Lin L; Ye, Jichao J; Chen, Keng K; Wang, Peng P; Shen, Huiyong H

Publication Date: 2011-02-21

Variant appearance in text: rs27434

PubMed Link: 21338515

Variant Present in the following documents:

• Main text

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Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis.

Nature Genetics

Hüffmeier, Ulrike U; Uebe, Steffen S; Ekici, Arif B AB; Bowes, John J; Giardina, Emiliano E; Korendowych, Eleanor E; Juneblad, Kristina K; Apel, Maria M; McManus, Ross R; Ho, Pauline P; Bruce, Ian N IN; Ryan, Anthony W AW; Behrens, Frank F; Lascorz, Jesús J; Böhm, Beate B; Traupe, Heiko H; Lohmann, Jörg J; Gieger, Christian C; Wichmann, Heinz-Erich HE; Herold, Christine C; Steffens, Michael M; Klareskog, Lars L; Wienker, Thomas F TF; Fitzgerald, Oliver O; Alenius, Gerd-Marie GM; McHugh, Neil J NJ; Novelli, Giuseppe G; Burkhardt, Harald H; Barton, Anne A; Reis, André A

Publication Date: 2010-11

Variant appearance in text: rs27434

PubMed Link: 20953186

Variant Present in the following documents:

• NIHMS32132-supplement-1.pdf

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SNPs in CAST are associated with Parkinson disease: a confirmation study.

American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics

Allen, Andrew S AS; Satten, Glen A GA

Publication Date: 2010-06-05

Variant appearance in text: rs27434

PubMed Link: 20127884

Variant Present in the following documents:

• Main text

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Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci.

Nature Genetics

, ; Reveille, John D JD; Sims, Anne-Marie AM; Danoy, Patrick P; Evans, David M DM; Leo, Paul P; Pointon, Jennifer J JJ; Jin, Rui R; Zhou, Xiaodong X; Bradbury, Linda A LA; Appleton, Louise H LH; Davis, John C JC; Diekman, Laura L; Doan, Tracey T; Dowling, Alison A; Duan, Ran R; Duncan, Emma L EL; Farrar, Claire C; Hadler, Johanna J; Harvey, David D; Karaderi, Tugce T; Mogg, Rebecca R; Pomeroy, Emma E; Pryce, Karena K; Taylor, Jacqueline J; Savage, Laurie L; Deloukas, Panos P; Kumanduri, Vasudev V; Peltonen, Leena L; Ring, Sue M SM; Whittaker, Pamela P; Glazov, Evgeny E; Thomas, Gethin P GP; Maksymowych, Walter P WP; Inman, Robert D RD; Ward, Michael M MM; Stone, Millicent A MA; Weisman, Michael H MH; Wordsworth, B Paul BP; Brown, Matthew A MA

Publication Date: 2010-02

Variant appearance in text: rs27434

PubMed Link: 20062062

Variant Present in the following documents:

• Main text

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