Publications:

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: IL4R: I75V

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3

View BVdb publication page

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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: IL4R: I75V; rs1805010

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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Association of the IL-4R Q576R Polymorphism with Pediatric Asthma: a meta-analysis.

African Health Sciences

Chen, Xiwu X; Hu, Jinhui J; Li, Kaiwei K; Liu, Sheng S; Ye, Qin Q; Cao, Baocen B

Publication Date: 2022-09

Variant appearance in text: IL4R: I75V

PubMed Link: 36910341

Variant Present in the following documents:

• AFHS2203-0307.pdf

View BVdb publication page

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Bullous pemphigoid: The role of type 2 inflammation in its pathogenesis and the prospect of targeted therapy.

Frontiers In Immunology

Zhang, Luyao L; Chen, Zihua Z; Wang, Lanting L; Luo, Xiaoqun X

Publication Date: 2023

Variant appearance in text: rs1805010

PubMed Link: 36875098

Variant Present in the following documents:

• Main text
• fimmu-14-1115083.pdf

View BVdb publication page

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: IL4R: 223A>G; Ile75Val

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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

Cancer Research Communications

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

Publication Date: 2022-11

Variant appearance in text: IL4R: I75V; rs1805010

PubMed Link: 36643868

Variant Present in the following documents:

• crc-22-0245-s07.xlsx, sheet 1

View BVdb publication page

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Prediction of response to anti-TNF treatment using laboratory biomarkers in patients with rheumatoid arthritis: a systematic review.

Rmd Open

Wientjes, Maike H M MHM; den Broeder, Alfons A AA; Welsing, Paco M J PMJ; Verhoef, Lise M LM; van den Bemt, Bart J F BJF

Publication Date: 2022-12

Variant appearance in text: rs1805010

PubMed Link: 36597975

Variant Present in the following documents:

• rmdopen-2022-002570supp001.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: IL4R: I75V; rs1805010

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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FarGen: Elucidating the distribution of coding variants in the isolated population of the Faroe Islands.

European Journal Of Human Genetics : Ejhg

Mortensen, Ólavur Ó; Thomsen, Elisabet E; Lydersen, Leivur N LN; Apol, Katrin D KD; Weihe, Pál P; Steig, Bjarni Á BÁ; Andorsdóttir, Guðrið G; Als, Thomas D TD; Gregersen, Noomi O NO

Publication Date: 2022-11-21

Variant appearance in text: IL4R: 223A>G; Ile75Val; rs1805010

PubMed Link: 36404349

Variant Present in the following documents:

• Main text
• 41431_2022_Article_1227.pdf

View BVdb publication page

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Genetic susceptibility of bladder cancer in the Lebanese population.

Bmc Medical Genomics

Kourie, Hampig Raphael HR; Succar, Bahaa B; Chouery, Eliane E; Mehawej, Cybel C; Ahmadieh, Nizar N; Zouein, Joseph J; Mardirossian, Avedis A; Jalkh, Nadine N; Sleilaty, Ghassan G; Kattan, Joseph J; Nemr, Elie E

Publication Date: 2022-10-17

Variant appearance in text: IL4R: 223A>G; I75V; rs1805010

PubMed Link: 36253817

Variant Present in the following documents:

• 12920_2022_1372_MOESM1_ESM.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: IL4R: I75V

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM9_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: IL4R: I75V; rs1805010

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Association of the <i>Interleukin-10-592C/A</i> Polymorphism and Cervical Cancer Risk: A Meta-Analysis.

Genetics Research

Diakite, Brehima B; Kassogue, Yaya Y; Maiga, Mamoudou M; Dolo, Guimogo G; Kassogue, Oumar O; Musa, Jonah J; Morhason-Bello, Imran I; Traore, Ban B; Traore, Cheick Bougadari CB; Kamate, Bakarou B; Coulibaly, Aissata A; Bah, Sekou S; Nadifi, Sellama S; Murphy, Robert R; Holl, Jane L JL; Hou, Lifang L

Publication Date: 2022

Variant appearance in text: rs1805010

PubMed Link: 35919032

Variant Present in the following documents:

• GR2022-2319161.pdf

View BVdb publication page

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Polymorphisms and AR: A Systematic Review and Meta-Analyses.

Frontiers In Genetics

Xiang, Feng F; Zeng, Zhen Z; Wang, Lu L; Yang, Ye Peng YP; Zhang, Qin Xiu QX

Publication Date: 2022

Variant appearance in text: rs1805010

PubMed Link: 35846137

Variant Present in the following documents:

• Main text
• fgene-13-899923.pdf

View BVdb publication page

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The current state of genetic risk models for the development of kidney cancer: a review and validation.

Bju International

Harrison, Hannah H; Li, Nicole N; Saunders, Catherine L CL; Rossi, Sabrina H SH; Dennis, Joe J; Griffin, Simon J SJ; Stewart, Grant D GD; Usher-Smith, Juliet A JA

Publication Date: 2022-11

Variant appearance in text: rs1805010

PubMed Link: 35460182

Variant Present in the following documents:

• BJU-130-550-s004.pdf

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: IL4R: I75V; rs1805010

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Genetic Variants Assessing Crohn's Disease Pattern in Pediatric Inflammatory Bowel Disease Patients by a Clinical Exome Survey.

Bioinformatics And Biology Insights

Noel, Dago Dougba DD; Marinella, Pinelli P; Mauro, Giacomelli G; Tripodi, Serena Ilaria SI; Pin, Alessia A; Serena, Arrigo A; Matteo, Bramuzzo B; Giuseppe, Fuoti Maurizio FM; Patrizia, Alvisi A; Stefano, Calza C; Tommasini, Alberto A; Raffaele, Badolato B

Publication Date: 2021

Variant appearance in text: IL4R: Ile75Val; rs1805010

PubMed Link: 35002226

Variant Present in the following documents:

• Main text
• 10.1177_11779322211055285.pdf

View BVdb publication page

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

Frontiers In Oncology

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

Publication Date: 2021

Variant appearance in text: IL4R: I75V

PubMed Link: 34858801

Variant Present in the following documents:

• Table_1.xls, sheet 1

View BVdb publication page

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Significance of Interleukin (IL)-4 and IL-13 in Inflammatory Arthritis.

Cells

Iwaszko, Milena M; Biały, Sylwia S; Bogunia-Kubik, Katarzyna K

Publication Date: 2021-11-03

Variant appearance in text: rs1805010

PubMed Link: 34831223

Variant Present in the following documents:

• Main text

View BVdb publication page

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Atopy in Kashmir-validation from a case control study with respect to IgE and Interleukin genes.

Allergy, Asthma, And Clinical Immunology : Official Journal Of The Canadian Society Of Allergy And Clinical Immunology

Qurashi, Taha Ashraf TA; Shah, Aaliya A; Bhat, Gulzar Ahmad GA; Khan, Mosin Saleem MS; Rasool, Roohi R; Mudassar, Syed S

Publication Date: 2021-11-23

Variant appearance in text: rs1805010

PubMed Link: 34814942

Variant Present in the following documents:

• Main text
• 13223_2021_Article_623.pdf

View BVdb publication page

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The effects of genetic polymorphisms on benzene-exposed workers: A systematic review.

Health Science Reports

Ramírez-Lopera, Verónica V; Uribe-Castro, Daniel D; Bautista-Amorocho, Henry H; Silva-Sayago, Jorge Alexander JA; Mateus-Sánchez, Enrique E; Ardila-Barbosa, Wilman Yesid WY; Pérez-Cala, Tania Liseth TL

Publication Date: 2021-09

Variant appearance in text: rs1805010

PubMed Link: 34295994

Variant Present in the following documents:

• Main text
• HSR2-4-e327.pdf

View BVdb publication page

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Interaction between antibiotic use and MS4A2 gene polymorphism on childhood eczema: a prospective birth cohort study.

Bmc Pediatrics

Hua, Li L; Chen, Qian Q; Liu, Quan-Hua QH; Guo, Yi-Feng YF; Cheng, Ru-Hong RH; Zhang, Jun J; Zhang, Jian-Hua JH; Wang, Li-Wei LW; Ji, Ruo-Xu RX

Publication Date: 2021-07-14

Variant appearance in text: rs1805010

PubMed Link: 34261469

Variant Present in the following documents:

• Main text

View BVdb publication page

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Gene-gene and gene-environment interactions on cord blood total IgE in Chinese Han children.

Allergy, Asthma, And Clinical Immunology : Official Journal Of The Canadian Society Of Allergy And Clinical Immunology

Hua, Li L; Liu, Quanhua Q; Li, Jing J; Zuo, Xianbo X; Chen, Qian Q; Li, Jingyang J; Wang, Yuwei Y; Liu, Haipei H; Shen, Zhaobo Z; Li, Yi Y; Ma, Zenan Z; Dong, Shengdong S; Ji, Ruoxu R; Fang, Dingzhu D; Chen, Yi Y; Zhong, Wenwei W; Zhang, Jun J; Zhang, Jianhua J; Bao, Yixiao Y

Publication Date: 2021-07-09

Variant appearance in text: rs1805010

PubMed Link: 34243801

Variant Present in the following documents:

• Main text
• 13223_2021_Article_571.pdf

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: IL4R: 223A>G; I75V; rs1805010

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer

Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC

Publication Date: 2021-05-29

Variant appearance in text: IL4R: 223A>G; Ile75Val; rs1805010

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.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: IL4R: I75V; rs1805010

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: IL4R: 223A>G; Ile75Val; rs1805010

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Possible Roles of Interleukin-4 and -13 and Their Receptors in Gastric and Colon Cancer.

International Journal Of Molecular Sciences

Song, Xujun X; Traub, Benno B; Shi, Jingwei J; Kornmann, Marko M

Publication Date: 2021-01-13

Variant appearance in text: rs1805010

PubMed Link: 33450900

Variant Present in the following documents:

• Main text
• ijms-22-00727.pdf
• ijms-22-00727-s001.pdf

View BVdb publication page

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High-depth African genomes inform human migration and health.

Nature

Choudhury, Ananyo A; Aron, Shaun S; Botigué, Laura R LR; Sengupta, Dhriti D; Botha, Gerrit G; Bensellak, Taoufik T; Wells, Gordon G; Kumuthini, Judit J; Shriner, Daniel D; Fakim, Yasmina J YJ; Ghoorah, Anisah W AW; Dareng, Eileen E; Odia, Trust T; Falola, Oluwadamilare O; Adebiyi, Ezekiel E; Hazelhurst, Scott S; Mazandu, Gaston G; Nyangiri, Oscar A OA; Mbiyavanga, Mamana M; Benkahla, Alia A; Kassim, Samar K SK; Mulder, Nicola N; Adebamowo, Sally N SN; Chimusa, Emile R ER; Muzny, Donna D; Metcalf, Ginger G; Gibbs, Richard A RA; , ; Rotimi, Charles C; Ramsay, Michèle M; , ; Adeyemo, Adebowale A AA; Lombard, Zané Z; Hanchard, Neil A NA

Publication Date: 2020-10

Variant appearance in text: IL4R: 223A>G; Ile75Val

PubMed Link: 33116287

Variant Present in the following documents:

• 41586_2020_2859_MOESM3_ESM.xlsx, sheet 21

View BVdb publication page

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Reference exome data for a Northern Brazilian population.

Scientific Data

Weeks, Alexia L AL; Francis, Richard W RW; Neri, Joao I C F JICF; Costa, Nathaly M C NMC; Arrais, Nivea M R NMR; Lassmann, Timo T; Blackwell, Jenefer M JM; Jeronimo, Selma M B SMB

Publication Date: 2020-10-21

Variant appearance in text: IL4R: 223A>G; Ile75Val; rs1805010

PubMed Link: 33087711

Variant Present in the following documents:

• 41597_2020_703_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: IL4R: 223A>G; Ile75Val

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

View BVdb publication page

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Association analysis of non-synonymous polymorphisms of interleukin-4 receptor-α and interleukin-13 genes in canine atopic dermatitis.

The Journal Of Veterinary Medical Science

Tanaka, Kazuaki K; Yamamoto-Fukuda, Misaki M; Takizawa, Tatsuya T; Shimakura, Hidekatsu H; Sakaguchi, Masahiro M

Publication Date: 2020-09-24

Variant appearance in text: IL4R: Ile75Val; rs1805010

PubMed Link: 32669513

Variant Present in the following documents:

• Main text
• jvms-82-1253.pdf

View BVdb publication page

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Unique insights from ClinicalTrials.gov by mining protein mutations and RSids in addition to applying the Human Phenotype Ontology.

Plos One

Alag, Shray S

Publication Date: 2020

Variant appearance in text: rs1805010

PubMed Link: 32459809

Variant Present in the following documents:

• Main text
• pone.0233438.pdf

View BVdb publication page

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Eighty-eight variants highlight the role of T cell regulation and airway remodeling in asthma pathogenesis.

Nature Communications

Olafsdottir, Thorunn A TA; Theodors, Fannar F; Bjarnadottir, Kristbjorg K; Bjornsdottir, Unnur Steina US; Agustsdottir, Arna B AB; Stefansson, Olafur A OA; Ivarsdottir, Erna V EV; Sigurdsson, Jon K JK; Benonisdottir, Stefania S; Eyjolfsson, Gudmundur I GI; Gislason, David D; Gislason, Thorarinn T; Guðmundsdóttir, Steinunn S; Gylfason, Arnaldur A; Halldorsson, Bjarni V BV; Halldorsson, Gisli H GH; Juliusdottir, Thorhildur T; Kristinsdottir, Anna M AM; Ludviksdottir, Dora D; Ludviksson, Bjorn R BR; Masson, Gisli G; Norland, Kristjan K; Onundarson, Pall T PT; Olafsson, Isleifur I; Sigurdardottir, Olof O; Stefansdottir, Lilja L; Sveinbjornsson, Gardar G; Tragante, Vinicius V; Gudbjartsson, Daniel F DF; Thorleifsson, Gudmar G; Sulem, Patrick P; Thorsteinsdottir, Unnur U; Norddahl, Gudmundur L GL; Jonsdottir, Ingileif I; Stefansson, Kari K

Publication Date: 2020-01-20

Variant appearance in text: rs1805010

PubMed Link: 31959851

Variant Present in the following documents:

• 41467_2019_Article_14144.pdf

View BVdb publication page

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Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.

Scientific Reports

Xiang, Jiale J; Yang, Jiyun J; Chen, Lisha L; Chen, Qiang Q; Yang, Haiyan H; Sun, Chengcheng C; Zhou, Qing Q; Peng, Zhiyu Z

Publication Date: 2020-01-15

Variant appearance in text: IL4R: 223A>G; Ile75Val

PubMed Link: 31942019

Variant Present in the following documents:

• 41598_2019_57335_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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

International Journal Of Molecular Medicine

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

Publication Date: 2020-02

Variant appearance in text: IL4R: 223A>G; Ile75Val

PubMed Link: 31894249

Variant Present in the following documents:

• Supplementary_Data2.xlsx, sheet 10
• Supplementary_Data2.xlsx, sheet 9

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: IL4R: 223A>G; Ile75Val; rs1805010

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
• 13059_2019_1838_MOESM4_ESM.xlsx, sheet 1

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Introducing the first whole genomes of nationals from the United Arab Emirates.

Scientific Reports

AlSafar, Habiba S HS; Al-Ali, Mariam M; Elbait, Gihan Daw GD; Al-Maini, Mustafa H MH; Ruta, Dymitr D; Peramo, Braulio B; Henschel, Andreas A; Tay, Guan K GK

Publication Date: 2019-10-11

Variant appearance in text: IL4R: I75V; rs1805010

PubMed Link: 31604968

Variant Present in the following documents:

• 41598_2019_50876_MOESM1_ESM.xlsx, sheet 2
• 41598_2019_50876_MOESM1_ESM.xlsx, sheet 1

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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: IL4R: I75V; rs1805010

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1

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Genetic Association between Interleukin-4 Receptor Polymorphisms and Cancer Susceptibility: A Meta-Analysis Based on 53 Case-Control Studies.

Journal Of Cancer

Qi, Yong Y; Zeng, Taofei T; Fan, Song S; Zhang, Li L; Liang, Chaozhao C

Publication Date: 2019

Variant appearance in text: rs1805010

PubMed Link: 31031864

Variant Present in the following documents:

• Main text
• jcav10p1538.pdf

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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: IL4R: I75V; rs1805010

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12

View BVdb publication page

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Non-HLA Genetic Factors and Their Influence on Heart Transplant Outcomes: A Systematic Review.

Transplantation Direct

van Setten, Jessica J; Warmerdam, Evangeline G EG; Groot, Olivier Q OQ; de Jonge, Nicolaas N; Keating, Brendan B; Asselbergs, Folkert W FW

Publication Date: 2019-02

Variant appearance in text: rs1805010

PubMed Link: 30882026

Variant Present in the following documents:

• txd-5-e422-s001.pdf

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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: rs1805010

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3

View BVdb publication page

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