ERAP1 c.380G>C ;(p.R127P)

Variant ID: 5-96139250-C-G

NM_001040458.1(ERAP1):c.380G>C;(p.R127P)

This variant was identified in 105 publications

View GRCh38 version.




Publications:


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: rs26653
PubMed Link: 37101107
Variant Present in the following documents:
  • Main text
  • 12885_2023_Article_10785.pdf
View BVdb publication page



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: ERAP1: R127P
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



Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.

Embo Molecular Medicine
El-Gazzar, Ahmed A; Voraberger, Barbara B; Rauch, Frank F; Mairhofer, Mario M; Schmidt, Katy K; Guillemyn, Brecht B; Mitulović, Goran G; Reiterer, Veronika V; Haun, Margot M; Mayr, Michaela M MM; Mayr, Johannes A JA; Kimeswenger, Susanne S; Drews, Oliver O; Saraff, Vrinda V; Shaw, Nick N; Fratzl-Zelman, Nadja N; Symoens, Sofie S; Farhan, Hesso H; Högler, Wolfgang W
Publication Date: 2023-03-14

Variant appearance in text: ERAP1: 380G>C; Arg127Pro
PubMed Link: 36916446
Variant Present in the following documents:
  • EMMM-15-e16834-s012.xlsx, sheet 1
View BVdb publication page



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

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

Variant appearance in text: ERAP1: R127P; rs26653
PubMed Link: 36643868
Variant Present in the following documents:
  • crc-22-0245-s07.xlsx, sheet 1
View BVdb publication page



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: R127P; rs26653
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Allelic Variants of HLA-C Upstream Region, PSORS1C3, MICA, TNFA and Genes Involved in Epidermal Homeostasis and Barrier Function Influence the Clinical Response to Anti-IL-12/IL-23 Treatment of Patients with Psoriasis.

Vaccines
Morelli, Martina M; Galluzzo, Marco M; Scarponi, Claudia C; Madonna, Stefania S; Scaglione, Giovanni Luca GL; Girolomoni, Giampiero G; Talamonti, Marina M; Bianchi, Luca L; Albanesi, Cristina C
Publication Date: 2022-11-21

Variant appearance in text: rs26653
PubMed Link: 36423071
Variant Present in the following documents:
  • Main text
  • vaccines-10-01977.pdf
View BVdb publication page



ERAP/HLA-C and KIR Genetic Profile in Couples with Recurrent Implantation Failure.

International Journal Of Molecular Sciences
Piekarska, Karolina K; Radwan, Paweł P; Tarnowska, Agnieszka A; Radwan, Michał M; Wilczyński, Jacek R JR; Malinowski, Andrzej A; Nowak, Izabela I
Publication Date: 2022-10-19

Variant appearance in text: rs26653
PubMed Link: 36293373
Variant Present in the following documents:
  • Main text
  • ijms-23-12518.pdf
View BVdb publication page



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

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

Variant appearance in text: ERAP1: R127P
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



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

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

Variant appearance in text: ERAP1: R127P
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Towards Personalized Medicine in Psoriasis: Current Progress.

Psoriasis (Auckland, N.Z.)
Camela, Elisa E; Potestio, Luca L; Ruggiero, Angelo A; Ocampo-Garza, Sonia Sofia SS; Fabbrocini, Gabriella G; Megna, Matteo M
Publication Date: 2022

Variant appearance in text: rs26653
PubMed Link: 36071793
Variant Present in the following documents:
  • Main text
  • ptt-12-231.pdf
View BVdb publication page



Functional ERAP1 Variants Distinctively Associate with Ankylosing Spondylitis Susceptibility under the Influence of HLA-B27 in Taiwanese.

Cells
Wang, Chin-Man CM; Liu, Ming-Kun MK; Jan Wu, Yeong-Jian YJ; Lin, Jing-Chi JC; Zheng, Jian-Wen JW; Wu, Jianming J; Chen, Ji-Yih JY
Publication Date: 2022-08-05

Variant appearance in text: ERAP1: R127P; rs26653
PubMed Link: 35954271
Variant Present in the following documents:
  • Main text
  • cells-11-02427.pdf
View BVdb publication page



Psoriasis: An Immunogenetic Perspective.

Global Medical Genetics
Kocaaga, Ayca A; Kocaaga, Mustafa M
Publication Date: 2022-06

Variant appearance in text: rs26653
PubMed Link: 35707771
Variant Present in the following documents:
  • Main text
  • 10-1055-s-0042-1743259.pdf
View BVdb publication page



ERAP1 Controls the Interaction of the Inhibitory Receptor KIR3DL1 With HLA-B51:01 by Affecting Natural Killer Cell Function.

Frontiers In Immunology
D'Amico, Silvia S; D'Alicandro, Valerio V; Compagnone, Mirco M; Tempora, Patrizia P; Guida, Giusy G; Romania, Paolo P; Lucarini, Valeria V; Melaiu, Ombretta O; Falco, Michela M; Algeri, Mattia M; Pende, Daniela D; Cifaldi, Loredana L; Fruci, Doriana D
Publication Date: 2021

Variant appearance in text: ERAP1: R127P; rs26653
PubMed Link: 34917091
Variant Present in the following documents:
  • DataSheet_1.pdf
View BVdb publication page



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: ERAP1: R127P
PubMed Link: 34858801
Variant Present in the following documents:
  • Table_1.xls, sheet 1
View BVdb publication page



ERAP, KIR, and HLA-C Profile in Recurrent Implantation Failure.

Frontiers In Immunology
Piekarska, Karolina K; Radwan, Paweł P; Tarnowska, Agnieszka A; Wiśniewski, Andrzej A; Radwan, Michał M; Wilczyński, Jacek R JR; Malinowski, Andrzej A; Nowak, Izabela I
Publication Date: 2021

Variant appearance in text: ERAP1: R127P; rs26653
PubMed Link: 34745129
Variant Present in the following documents:
  • Main text
  • fimmu-12-755624.pdf
View BVdb publication page



The association of HLA-C and ERAP1 polymorphisms in early and late onset psoriasis and psoriatic arthritis patients of Hungary.

Postepy Dermatologii I Alergologii
Képíró, László L; Széll, Márta M; Kovács, László L; Keszthelyi, Péter P; Kemény, Lajos L; Gyulai, Rolland R
Publication Date: 2021-02

Variant appearance in text: rs26653
PubMed Link: 34408565
Variant Present in the following documents:
  • Main text
View BVdb publication page



Associations between ERAP1 Gene Polymorphisms and Psoriasis Susceptibility: A Meta-Analysis of Case-Control Studies.

Biomed Research International
Wu, Xiujuan X; Zhao, Zongfeng Z
Publication Date: 2021

Variant appearance in text: rs26653
PubMed Link: 34395615
Variant Present in the following documents:
  • Main text
  • BMRI2021-5515868.pdf
View BVdb publication page



Relevance between COVID-19 and host genetics of immune response.

Saudi Journal Of Biological Sciences
Taher, Ibrahim I; Almaeen, Abdulrahman A; Ghazy, Amany A; Abu-Farha, Mohamed M; Mohamed Channanath, Arshad A; Elsa John, Sumi S; Hebbar, Prashantha P; Arefanian, Hossein H; Abubaker, Jehad J; Al-Mulla, Fahd F; Alphonse Thanaraj, Thangavel T
Publication Date: 2021-11

Variant appearance in text: rs26653
PubMed Link: 34305429
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



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: R127P
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



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: R127P
PubMed Link: 34239129
Variant Present in the following documents:
  • NIHMS1711548-supplement-supTables1to35.xlsx, sheet 4
  • NIHMS1711548-supplement-supTables1to35.xlsx, sheet 6
  • NIHMS1711548-supplement-supTables1to35.xlsx, sheet 5
View BVdb publication page



Polymorphisms of Antigen-Presenting Machinery Genes in Non-Small Cell Lung Cancer: Different Impact on Disease Risk and Clinical Parameters in Smokers and Never-Smokers.

Frontiers In Immunology
Wiśniewski, Andrzej A; Sobczyński, Maciej M; Pawełczyk, Konrad K; Porębska, Irena I; Jasek, Monika M; Wagner, Marta M; Niepiekło-Miniewska, Wanda W; Kowal, Aneta A; Dubis, Joanna J; Jędruchniewicz, Natalia N; Kuśnierczyk, Piotr P
Publication Date: 2021

Variant appearance in text: rs26653
PubMed Link: 34149699
Variant Present in the following documents:
  • Main text
  • fimmu-12-664474.pdf
View BVdb publication page



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

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

Variant appearance in text: ERAP1: 380G>C; R127P; rs26653
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Biomarkers predictive of treatment response in psoriasis and psoriatic arthritis: a systematic review.

Therapeutic Advances In Musculoskeletal Disease
Magee, Conor C; Jethwa, Hannah H; FitzGerald, Oliver M OM; Jadon, Deepak R DR
Publication Date: 2021

Variant appearance in text: rs26653
PubMed Link: 33995606
Variant Present in the following documents:
  • Main text
  • 10.1177_1759720X211014010.pdf
View BVdb publication page



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

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

Variant appearance in text: ERAP1: R127P; rs26653
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



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

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

Variant appearance in text: ERAP1: 380G>C; R127P; rs26653
PubMed Link: 33770142
Variant Present in the following documents:
  • pone.0249324.s003.xlsx, sheet 1
  • pone.0249324.s003.xlsx, sheet 2
  • pone.0249324.s003.xlsx, sheet 3
View BVdb publication page



Common allotypes of ER aminopeptidase 1 have substrate-dependent and highly variable enzymatic properties.

The Journal Of Biological Chemistry
Hutchinson, Jonathan P JP; Temponeras, Ioannis I; Kuiper, Jonas J; Cortes, Adrian A; Korczynska, Justyna J; Kitchen, Semra S; Stratikos, Efstratios E
Publication Date: 2021

Variant appearance in text: rs26653
PubMed Link: 33617882
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Genomic and evolutionary portraits of disease relapse in acute myeloid leukemia.

Leukemia
Rapaport, Franck F; Neelamraju, Yaseswini Y; Baslan, Timour T; Hassane, Duane D; Gruszczynska, Agata A; Robert de Massy, Marc M; Farnoud, Noushin N; Haddox, Samuel S; Lee, Tak T; Medina-Martinez, Juan J; Sheridan, Caroline C; Thurmond, Alexis A; Becker, Michael M; Bekiranov, Stefan S; Carroll, Martin M; Moses Murdock, Heardly H; Valk, Peter J M PJM; Bullinger, Lars L; D'Andrea, Richard R; Lowe, Scott W SW; Neuberg, Donna D; Levine, Ross L RL; Melnick, Ari A; Garrett-Bakelman, Francine E FE
Publication Date: 2021-09

Variant appearance in text: ERAP1: Arg127Pro
PubMed Link: 33580203
Variant Present in the following documents:
  • 41375_2021_1153_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)
Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S
Publication Date: 2021-06

Variant appearance in text: ERAP1: 380G>C; R127P; rs26653
PubMed Link: 33503336
Variant Present in the following documents:
  • CNR2-4-e1335-s003.xlsx, sheet 1
  • CNR2-4-e1335-s003.xlsx, sheet 2
View BVdb publication page



Interaction between ERAP Alleles and HLA Class I Types Support a Role of Antigen Presentation in Hodgkin Lymphoma Development.

Cancers
Jiang, Peijia P; Veenstra, Rianne N RN; Seitz, Annika A; Nolte, Ilja M IM; Hepkema, Bouke G BG; Visser, Lydia L; van den Berg, Anke A; Diepstra, Arjan A
Publication Date: 2021-01-22

Variant appearance in text: ERAP1: R127P; rs26653
PubMed Link: 33499248
Variant Present in the following documents:
  • cancers-13-00414-s001.pdf
View BVdb publication page



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

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

Variant appearance in text: ERAP1: 380G>C; R127P; rs26653
PubMed Link: 33420045
Variant Present in the following documents:
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 4
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Pharmacogenetics Update on Biologic Therapy in Psoriasis.

Medicina (Kaunas, Lithuania)
Muñoz-Aceituno, Ester E; Martos-Cabrera, Luisa L; Ovejero-Benito, María Carmen MC; Reolid, Alejandra A; Abad-Santos, Francisco F; Daudén, Esteban E
Publication Date: 2020-12-20

Variant appearance in text: rs26653
PubMed Link: 33419370
Variant Present in the following documents:
  • Main text
  • medicina-56-00719.pdf
View BVdb publication page



Polymorphisms in ERAP1 and ERAP2 Genes Are Associated With Tuberculosis in the Han Chinese.

Frontiers In Genetics
Zhang, Shuqiong S; Liu, Shuyuan S; Liu, Nannan N; Li, Chuanyin C; Wang, Hui H; Shi, Lei L; Zhang, Xinwen X; Bao, Ling L; Yao, Yufeng Y; Shi, Li L
Publication Date: 2020

Variant appearance in text: rs26653
PubMed Link: 33250919
Variant Present in the following documents:
  • Main text
  • fgene-11-566190.pdf
View BVdb publication page



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: 380G>C; Arg127Pro
PubMed Link: 33057101
Variant Present in the following documents:
  • 41598_2020_74374_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Association of ERAP2 polymorphisms in Colombian HLA-B27+ or HLA-B15+ patients with SpA and its relationship with clinical presentation: axial or peripheral predominance.

Rmd Open
Londono, John J; Santos, Ana M AM; Rueda, Juan C JC; Calvo-Paramo, Enrique E; Burgos-Vargas, Ruben R; Vargas-Alarcon, Gilberto G; Martinez-Rodriguez, Nancy N; Arias-Correal, Sofia S; Muñoz, Guisselle-Nathalia GN; Padilla, Diana D; Cuervo, Francy F; Reyes-Martinez, Viviana V; Bernal-Macías, Santiago S; Villota-Eraso, Catalina C; Avila-Portillo, Luz M LM; Romero, Consuelo C; Medina, Juan F JF
Publication Date: 2020-09

Variant appearance in text: rs26653
PubMed Link: 32917832
Variant Present in the following documents:
  • Main text
  • rmdopen-2020-001250.pdf
View BVdb publication page



Impact of Natural Occurring ERAP1 Single Nucleotide Polymorphisms within miRNA-Binding Sites on HCMV Infection.

International Journal Of Molecular Sciences
Melaiu, Ombretta O; D'Amico, Silvia S; Tempora, Patrizia P; Lucarini, Valeria V; Fruci, Doriana D
Publication Date: 2020-08-15

Variant appearance in text: rs26653
PubMed Link: 32824160
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pathogenesis of psoriasis in the "omic" era. Part II. Genetic, genomic and epigenetic changes in psoriasis.

Postepy Dermatologii I Alergologii
Nedoszytko, Bogusław B; Szczerkowska-Dobosz, Aneta A; Stawczyk-Macieja, Marta M; Owczarczyk-Saczonek, Agnieszka A; Reich, Adam A; Bartosiñska, Joanna J; Batycka-Baran, Aleksandra A; Czajkowski, Rafał R; Dobrucki, Iwona T IT; Dobrucki, Lawrence W LW; Górecka-Sokołowska, Magdalena M; Janaszak-Jasiecka, Anna A; Kalinowski, Leszek L; Krasowska, Dorota D; Purzycka-Bohdan, Dorota D; Radulska, Adrianna A; Reszka, Edyta E; Samotij, Dominik D; Sobalska-Kwapis, Marta M; Słominski, Andrzej A; Słominski, Radomir R; Strapagiel, Dominik D; Szczêch, Justyna J; Żmijewski, Michał M; Nowicki, Roman J RJ
Publication Date: 2020-06

Variant appearance in text: rs26653
PubMed Link: 32774210
Variant Present in the following documents:
  • Main text
  • PDIA-37-96243.pdf
View BVdb publication page



Abstracts for the 32nd European Immunogenetics and Histocompatibility Conference and the 25th Annual Meeting of the Italian Society for Immunogenetics and Transplantation Biology (AIBT) Venice Lido, Italy May 9-12, 2018.

Hla
Publication Date: 2018-05

Variant appearance in text: rs26653
PubMed Link: 32745368
Variant Present in the following documents:
  • Main text
View BVdb publication page



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

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

Variant appearance in text: ERAP1: R127P; rs26653
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, sheet 1
View BVdb publication page



Polymorphisms in endoplasmic reticulum aminopeptidase genes are associated with cervical cancer risk in a Chinese Han population.

Bmc Cancer
Li, Chuanyin C; Li, Yaheng Y; Yan, Zhiling Z; Dai, Shuying S; Liu, Shuyuan S; Wang, Xia X; Wang, Jun J; Zhang, Xinwen X; Shi, Li L; Yao, Yufeng Y
Publication Date: 2020-04-22

Variant appearance in text: rs26653
PubMed Link: 32321463
Variant Present in the following documents:
  • Main text
  • 12885_2020_Article_6832.pdf
View BVdb publication page



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

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

Variant appearance in text: rs26653
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



An Overview on ERAP Roles in Infectious Diseases.

Cells
Saulle, Irma I; Vicentini, Chiara C; Clerici, Mario M; Biasin, Mara M
Publication Date: 2020-03-14

Variant appearance in text: rs26653
PubMed Link: 32183384
Variant Present in the following documents:
  • Main text
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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: rs26653
PubMed Link: 32173028
Variant Present in the following documents:
  • Main text
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ERAP1 polymorphisms interactions and their association with Behçet's disease susceptibly: Application of Model-Based Multifactor Dimension Reduction Algorithm (MB-MDR).

Plos One
Riahi, Parisa P; Kazemnejad, Anoshirvan A; Mostafaei, Shayan S; Meguro, Akira A; Mizuki, Nobuhisa N; Ashraf-Ganjouei, Amir A; Javinani, Ali A; Faezi, Seyedeh Tahereh ST; Shahram, Farhad F; Mahmoudi, Mahdi M
Publication Date: 2020

Variant appearance in text: rs26653
PubMed Link: 32023277
Variant Present in the following documents:
  • Main text
  • pone.0227997.pdf
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