IRAK4 c.1282G>A ;(p.A428T)

Variant ID: 12-44180295-G-A

NM_016123.3(IRAK4):c.1282G>A;(p.A428T)

This variant was identified in 42 publications

View GRCh38 version.




Publications:


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: IRAK4: A428T
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



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: rs4251545
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology
Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A
Publication Date: 2022

Variant appearance in text: rs4251545
PubMed Link: 36582804
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Association of the IRAK4 rs4251545 genetic polymorphism with severity of enterovirus-71 infection in Chinese children.

Immunity, Inflammation And Disease
Song, Jie J; Liu, Yedan Y; Guo, Ya Y; Liu, Peipei P; Li, Fei F; Yang, Chengqing C; Pan, Xiaoyu X; Yi, Liping L; Fan, Fan F; Zhao, Han H; Chen, Zongbo Z
Publication Date: 2022-05

Variant appearance in text: rs4251545
PubMed Link: 35478439
Variant Present in the following documents:
  • Main text
  • IID3-10-e614.pdf
View BVdb publication page



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: IRAK4: 1282G>A; Ala428Thr; rs4251545
PubMed Link: 34051734
Variant Present in the following documents:
  • 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1
View BVdb publication page



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: IRAK4: 1282G>A; A428T; rs4251545
PubMed Link: 33478437
Variant Present in the following documents:
  • 12920_2021_871_MOESM2_ESM.xls, sheet 1
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: IRAK4: 1282G>A; A428T; rs4251545
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
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Proteogenomic Landscape of Breast Cancer Tumorigenesis and Targeted Therapy.

Cell
Krug, Karsten K; Jaehnig, Eric J EJ; Satpathy, Shankha S; Blumenberg, Lili L; Karpova, Alla A; Anurag, Meenakshi M; Miles, George G; Mertins, Philipp P; Geffen, Yifat Y; Tang, Lauren C LC; Heiman, David I DI; Cao, Song S; Maruvka, Yosef E YE; Lei, Jonathan T JT; Huang, Chen C; Kothadia, Ramani B RB; Colaprico, Antonio A; Birger, Chet C; Wang, Jarey J; Dou, Yongchao Y; Wen, Bo B; Shi, Zhiao Z; Liao, Yuxing Y; Wiznerowicz, Maciej M; Wyczalkowski, Matthew A MA; Chen, Xi Steven XS; Kennedy, Jacob J JJ; Paulovich, Amanda G AG; Thiagarajan, Mathangi M; Kinsinger, Christopher R CR; Hiltke, Tara T; Boja, Emily S ES; Mesri, Mehdi M; Robles, Ana I AI; Rodriguez, Henry H; Westbrook, Thomas F TF; Ding, Li L; Getz, Gad G; Clauser, Karl R KR; Fenyö, David D; Ruggles, Kelly V KV; Zhang, Bing B; Mani, D R DR; Carr, Steven A SA; Ellis, Matthew J MJ; Gillette, Michael A MA; ,
Publication Date: 2020-11-25

Variant appearance in text: IRAK4: A428T
PubMed Link: 33212010
Variant Present in the following documents:
  • NIHMS1687926-supplement-Supplemental_Table_3.xlsx, sheet 5
View BVdb publication page



Long Noncoding RNAs Coregulated by Annexin A7 and JNK in Hepatocellular Carcinoma Cells Identified by Whole-Genome Expression Profiling.

Biomed Research International
Deng, Qi Q; Li, Lianhong L; Jin, Yanling Y
Publication Date: 2020

Variant appearance in text: IRAK4: Ala428Thr; rs4251545
PubMed Link: 32775428
Variant Present in the following documents:
  • Main text
  • BMRI2020-5747923.pdf
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: IRAK4: A428T; rs4251545
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, sheet 1
View BVdb publication page



Association of variants in selected genes mediating host immune response with duration of Staphylococcus aureus bacteremia.

Genes And Immunity
Carter, Tonia C TC; Ye, Zhan Z; Ivacic, Lynn C LC; Budi, Noah N; Rose, Warren E WE; Shukla, Sanjay K SK
Publication Date: 2020-08

Variant appearance in text: rs4251545
PubMed Link: 32507857
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications
Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B
Publication Date: 2020-04-09

Variant appearance in text: IRAK4: A428T
PubMed Link: 32273506
Variant Present in the following documents:
  • 41467_2020_15456_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



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: IRAK4: Ala428Thr
PubMed Link: 31894249
Variant Present in the following documents:
  • Supplementary_Data2.xlsx, sheet 2
  • Supplementary_Data2.xlsx, sheet 4
  • Supplementary_Data2.xlsx, sheet 7
  • Supplementary_Data2.xlsx, sheet 1
  • Supplementary_Data2.xlsx, sheet 5
View BVdb publication page



Recurrent noncoding U1 snRNA mutations drive cryptic splicing in SHH medulloblastoma.

Nature
Suzuki, Hiromichi H; Kumar, Sachin A SA; Shuai, Shimin S; Diaz-Navarro, Ander A; Gutierrez-Fernandez, Ana A; De Antonellis, Pasqualino P; Cavalli, Florence M G FMG; Juraschka, Kyle K; Farooq, Hamza H; Shibahara, Ichiyo I; Vladoiu, Maria C MC; Zhang, Jiao J; Abeysundara, Namal N; Przelicki, David D; Skowron, Patryk P; Gauer, Nicole N; Luu, Betty B; Daniels, Craig C; Wu, Xiaochong X; Forget, Antoine A; Momin, Ali A; Wang, Jun J; Dong, Weifan W; Kim, Seung-Ki SK; Grajkowska, Wieslawa A WA; Jouvet, Anne A; Fèvre-Montange, Michelle M; Garrè, Maria Luisa ML; Nageswara Rao, Amulya A AA; Giannini, Caterina C; Kros, Johan M JM; French, Pim J PJ; Jabado, Nada N; Ng, Ho-Keung HK; Poon, Wai Sang WS; Eberhart, Charles G CG; Pollack, Ian F IF; Olson, James M JM; Weiss, William A WA; Kumabe, Toshihiro T; López-Aguilar, Enrique E; Lach, Boleslaw B; Massimino, Maura M; Van Meir, Erwin G EG; Rubin, Joshua B JB; Vibhakar, Rajeev R; Chambless, Lola B LB; Kijima, Noriyuki N; Klekner, Almos A; Bognár, László L; Chan, Jennifer A JA; Faria, Claudia C CC; Ragoussis, Jiannis J; Pfister, Stefan M SM; Goldenberg, Anna A; Wechsler-Reya, Robert J RJ; Bailey, Swneke D SD; Garzia, Livia L; Morrissy, A Sorana AS; Marra, Marco A MA; Huang, Xi X; Malkin, David D; Ayrault, Olivier O; Ramaswamy, Vijay V; Puente, Xose S XS; Calarco, John A JA; Stein, Lincoln L; Taylor, Michael D MD
Publication Date: 2019-10

Variant appearance in text: IRAK4: A428T
PubMed Link: 31664194
Variant Present in the following documents:
  • NIHMS1539056-supplement-2.xlsx, sheet 5
View BVdb publication page



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: IRAK4: 1282G>A; Ala428Thr; rs4251545
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Host genetic variability and pneumococcal disease: a systematic review and meta-analysis.

Bmc Medical Genomics
Kloek, Anne T AT; Brouwer, Matthijs C MC; van de Beek, Diederik D
Publication Date: 2019-09-13

Variant appearance in text: rs4251545
PubMed Link: 31519222
Variant Present in the following documents:
  • Main text
View BVdb publication page



Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications
Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H
Publication Date: 2019-09-12

Variant appearance in text: rs4251545
PubMed Link: 31515488
Variant Present in the following documents:
  • 41467_2019_11959_MOESM11_ESM.xlsx, sheet 1
  • 41467_2019_11959_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Protective Innate Immune Variants in Racial/Ethnic Disparities of Breast and Prostate Cancer.

Cancer Immunology Research
Yeyeodu, Susan T ST; Kidd, LaCreis R LR; Kimbro, K Sean KS
Publication Date: 2019-09

Variant appearance in text: rs4251545
PubMed Link: 31481520
Variant Present in the following documents:
  • Main text
View BVdb publication page



An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01

Variant appearance in text: IRAK4: 1282G>A; Ala428Thr
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



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: rs4251545
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
View BVdb publication page



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: IRAK4: 1282G>A; Ala428Thr; rs4251545
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



Functional Polymorphisms in IRAKs Are Related to Hepatocellular Carcinoma Risk in Chinese Population.

Biomed Research International
Wang, Hui H; Song, Ci C; Qi, Qi Q; Huang, Tongtong T; Wang, Lijuan L; Chen, Jianguo J; Zhu, Jian J; Hu, Zhibin Z; Dai, Juncheng J
Publication Date: 2018

Variant appearance in text: IRAK4: Ala428Thr; rs4251545
PubMed Link: 30112356
Variant Present in the following documents:
  • Main text
  • BMRI2018-1252849.pdf
View BVdb publication page



Population genomics of Mesolithic Scandinavia: Investigating early postglacial migration routes and high-latitude adaptation.

Plos Biology
Günther, Torsten T; Malmström, Helena H; Svensson, Emma M EM; Omrak, Ayça A; Sánchez-Quinto, Federico F; Kılınç, Gülşah M GM; Krzewińska, Maja M; Eriksson, Gunilla G; Fraser, Magdalena M; Edlund, Hanna H; Munters, Arielle R AR; Coutinho, Alexandra A; Simões, Luciana G LG; Vicente, Mário M; Sjölander, Anders A; Jansen Sellevold, Berit B; Jørgensen, Roger R; Claes, Peter P; Shriver, Mark D MD; Valdiosera, Cristina C; Netea, Mihai G MG; Apel, Jan J; Lidén, Kerstin K; Skar, Birgitte B; Storå, Jan J; Götherström, Anders A; Jakobsson, Mattias M
Publication Date: 2018-01

Variant appearance in text: rs4251545
PubMed Link: 29315301
Variant Present in the following documents:
  • pbio.2003703.s013.pdf
View BVdb publication page



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: IRAK4: A428T; rs4251545
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



IRAK-4 Variants in acute coronary syndrome patients.

Anatolian Journal Of Cardiology
Ergen, Arzu A; Fazlıoğulları, Osman O; Başaran, Cem C; Çelik, Faruk F; Candan, Gonca G; Timirci Kahraman, Özlem Ö; Zeybek, Ümit Ü
Publication Date: 2017-05

Variant appearance in text: rs4251545
PubMed Link: 28529283
Variant Present in the following documents:
  • Main text
  • AJC-17-417a.pdf
View BVdb publication page



Variation of 46 Innate Immune Genes Evaluated for their Contribution in Pneumococcal Meningitis Susceptibility and Outcome.

Ebiomedicine
Ferwerda, Bart B; Valls Serón, Mercedes M; Jongejan, Aldo A; Zwinderman, Aeilko H AH; Geldhoff, Madelijn M; van der Ende, Arie A; Baas, Frank F; Brouwer, Matthijs C MC; van de Beek, Diederik D
Publication Date: 2016-08

Variant appearance in text: rs4251545
PubMed Link: 27432718
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Proteogenomics connects somatic mutations to signalling in breast cancer.

Nature
Mertins, Philipp P; Mani, D R DR; Ruggles, Kelly V KV; Gillette, Michael A MA; Clauser, Karl R KR; Wang, Pei P; Wang, Xianlong X; Qiao, Jana W JW; Cao, Song S; Petralia, Francesca F; Kawaler, Emily E; Mundt, Filip F; Krug, Karsten K; Tu, Zhidong Z; Lei, Jonathan T JT; Gatza, Michael L ML; Wilkerson, Matthew M; Perou, Charles M CM; Yellapantula, Venkata V; Huang, Kuan-lin KL; Lin, Chenwei C; McLellan, Michael D MD; Yan, Ping P; Davies, Sherri R SR; Townsend, R Reid RR; Skates, Steven J SJ; Wang, Jing J; Zhang, Bing B; Kinsinger, Christopher R CR; Mesri, Mehdi M; Rodriguez, Henry H; Ding, Li L; Paulovich, Amanda G AG; Fenyö, David D; Ellis, Matthew J MJ; Carr, Steven A SA; ,
Publication Date: 2016-06-02

Variant appearance in text: IRAK4: A428T; rs4251545
PubMed Link: 27251275
Variant Present in the following documents:
  • NIHMS778057-supplement-supp_table5.xlsx, sheet 2
View BVdb publication page



Evidence of activation of the Toll-like receptor-4 proinflammatory pathway in patients with schizophrenia.

Journal Of Psychiatry & Neuroscience : Jpn
García-Bueno, Borja B; Gassó, Patricia P; MacDowell, Karina S KS; Callado, Luis F LF; Mas, Sergi S; Bernardo, Miguel M; Lafuente, Amalia A; Meana, J Javier JJ; Leza, Juan C JC
Publication Date: 2016-04

Variant appearance in text: rs4251545
PubMed Link: 27070349
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs4251545
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: IRAK4: A428T
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



Rare variants in MYD88, IRAK4 and IKBKG and susceptibility to invasive pneumococcal disease: a population-based case-control study.

Plos One
Ellis, Magda K MK; Elliott, Katherine S KS; Rautanen, Anna A; Crook, Derrick W DW; Hill, Adrian V S AV; Chapman, Stephen J SJ
Publication Date: 2015

Variant appearance in text: IRAK4: A428T; rs4251545
PubMed Link: 25886387
Variant Present in the following documents:
  • Main text
  • pone.0123532.s001.xls, sheet 1
View BVdb publication page



IRAK4 gene polymorphism and odontogenic maxillary sinusitis.

Clinical Oral Investigations
Pereira, Inês Guerra IG; Vaz, Paula P; Almeida, Ricardo Faria RF; Braga, Ana Cristina AC; Felino, António A
Publication Date: 2015-11

Variant appearance in text: IRAK4: 1282G>A; Ala428Thr
PubMed Link: 25707370
Variant Present in the following documents:
  • Main text
  • 784_2015_Article_1424.pdf
View BVdb publication page



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: IRAK4: A428T; rs4251545
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One
Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P
Publication Date: 2014

Variant appearance in text: IRAK4: Ala428Thr
PubMed Link: 25333361
Variant Present in the following documents:
  • pone.0109576.s001.xls, sheet 3
View BVdb publication page



Association of genetic variants in the IRAK-4 gene with susceptibility to severe sepsis.

World Journal Of Emergency Medicine
Yin, Jun J; Yao, Chen-Ling CL; Liu, Cheng-Long CL; Song, Zhen-Ju ZJ; Tong, Chao-Yang CY; Huang, Pei-Zhi PZ
Publication Date: 2012

Variant appearance in text: rs4251545
PubMed Link: 25215050
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: IRAK4: A428T; rs4251545
PubMed Link: 24219164
Variant Present in the following documents:
  • cas0105-0202-SD3.xlsx, sheet 1
View BVdb publication page



IRAK4 and TLR3 Sequence Variants may Alter Breast Cancer Risk among African-American Women.

Frontiers In Immunology
Yeyeodu, Susan T ST; Kidd, Lacreis R LR; Oprea-Ilies, Gabriela M GM; Burns, Brian G BG; Vancleave, Tiva T TT; Shim, Joong-Youn JY; Kimbro, K Sean KS
Publication Date: 2013

Variant appearance in text: IRAK4: Ala428Thr; rs4251545
PubMed Link: 24194738
Variant Present in the following documents:
  • Main text
  • fimmu-04-00338.pdf
View BVdb publication page



Impaired innate immunity in mice deficient in interleukin-1 receptor-associated kinase 4 leads to defective type 1 T cell responses, B cell expansion, and enhanced susceptibility to infection with Toxoplasma gondii.

Infection And Immunity
Béla, Samantha R SR; Dutra, Míriam S MS; Mui, Ernest E; Montpetit, Alexandre A; Oliveira, Fernanda S FS; Oliveira, Sérgio C SC; Arantes, Rosa M E RM; Antonelli, Lis R LR; McLeod, Rima R; Gazzinelli, Ricardo T RT
Publication Date: 2012-12

Variant appearance in text: rs4251545
PubMed Link: 23027530
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variation in the TNF receptor-associated factor 6 gene is associated with susceptibility to sepsis-induced acute lung injury.

Journal Of Translational Medicine
Song, Zhenju Z; Yao, Chenling C; Yin, Jun J; Tong, Chaoyang C; Zhu, Duming D; Sun, Zhan Z; Jiang, Jinjun J; Shao, Mian M; Zhang, Yaping Y; Deng, Zhi Z; Tao, Zhengang Z; Sun, Si S; Bai, Chunxue C
Publication Date: 2012-08-17

Variant appearance in text: rs4251545
PubMed Link: 22901274
Variant Present in the following documents:
  • Main text
  • 1479-5876-10-166.pdf
View BVdb publication page



A nonsynonymous polymorphism of IRAK4 associated with increased prevalence of gram-positive infection and decreased response to toll-like receptor ligands.

Journal Of Innate Immunity
Sutherland, Ainsley M AM; Walley, Keith R KR; Nakada, Taka-Aki TA; Sham, Andy H P AH; Wurfel, Mark M MM; Russell, James A JA
Publication Date: 2011

Variant appearance in text: IRAK4: A428T; rs4251545
PubMed Link: 21576904
Variant Present in the following documents:
  • Main text
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Toll-like receptor signaling pathway variants and prostate cancer mortality.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Stark, Jennifer R JR; Wiklund, Fredrik F; Grönberg, Henrik H; Schumacher, Fredrick F; Sinnott, Jennifer A JA; Stampfer, Meir J MJ; Mucci, Lorelei A LA; Kraft, Peter P
Publication Date: 2009-06

Variant appearance in text: rs4251545
PubMed Link: 19505919
Variant Present in the following documents:
  • Main text
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