NOTCH4 c.4757-73T>C

Variant ID: 6-32165444-A-G

NM_004557.3(NOTCH4):c.4757-73T>C

This variant was identified in 19 publications

View GRCh38 version.




Publications:


Sex differences in the genetics of sarcoidosis across European and African ancestry populations.

Frontiers In Medicine
Xiong, Ying Y; Kullberg, Susanna S; Garman, Lori L; Pezant, Nathan N; Ellinghaus, David D; Vasila, Vasiliki V; Eklund, Anders A; Rybicki, Benjamin A BA; Iannuzzi, Michael C MC; Schreiber, Stefan S; Müller-Quernheim, Joachim J; Montgomery, Courtney G CG; Grunewald, Johan J; Padyukov, Leonid L; Rivera, Natalia V NV
Publication Date: 2023

Variant appearance in text: rs2071278
PubMed Link: 37250650
Variant Present in the following documents:
  • Main text
  • fmed-10-1132799.pdf
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: rs2071278
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



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: rs2071278
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
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Receptor for advanced glycation end-products and environmental exposure related obstructive airways disease: a systematic review.

European Respiratory Review : An Official Journal Of The European Respiratory Society
Haider, Syed H SH; Oskuei, Assad A; Crowley, George G; Kwon, Sophia S; Lam, Rachel R; Riggs, Jessica J; Mikhail, Mena M; Talusan, Angela A; Veerappan, Arul A; Kim, James S JS; Caraher, Erin J EJ; Nolan, Anna A
Publication Date: 2019-03-31

Variant appearance in text: rs2071278
PubMed Link: 30918021
Variant Present in the following documents:
  • ERR-0096-2018.tableS5.pdf
  • ERR-0096-2018.tableS4.pdf
View BVdb publication page



Fine-mapping of HLA class I and class II genes identified two independent novel variants associated with nasopharyngeal carcinoma susceptibility.

Cancer Medicine
Wang, Tong-Min TM; Zhou, Ting T; He, Yong-Qiao YQ; Xue, Wen-Qiong WQ; Zhang, Jiang-Bo JB; Zheng, Xiao-Hui XH; Li, Xi-Zhao XZ; Zhang, Shao-Dan SD; Zeng, Yi-Xin YX; Jia, Wei-Hua WH
Publication Date: 2018-12

Variant appearance in text: rs2071278
PubMed Link: 30378292
Variant Present in the following documents:
  • CAM4-7-6308-s006.xlsx, sheet 1
View BVdb publication page



Attempts to replicate genetic associations with schizophrenia in a cohort from north India.

Npj Schizophrenia
Prasad, Suman S; Bhatia, Triptish T; Kukshal, Prachi P; Nimgaonkar, Vishwajit L VL; Deshpande, Smita N SN; Thelma, B K BK
Publication Date: 2017-08-30

Variant appearance in text: rs2071278
PubMed Link: 28855605
Variant Present in the following documents:
  • Main text
  • 41537_2017_Article_30.pdf
View BVdb publication page



Prognostic value of Notch receptors in postsurgical patients with hepatitis B virus-related hepatocellular carcinoma.

Cancer Medicine
Yu, Tingdong T; Han, Chuangye C; Zhu, Guangzhi G; Liao, Xiwen X; Qin, Wei W; Yang, Chengkun C; Liu, Zhen Z; Su, Hao H; Liu, Xiaoguang X; Yu, Long L; Liu, Zhengtao Z; Lu, Sicong S; Chen, Zhiwei Z; Liang, Yu Y; Huang, Jianlu J; Qin, Xue X; Gui, Ying Y; Li, Jiaquan J; Peng, Tao T
Publication Date: 2017-07

Variant appearance in text: rs2071278
PubMed Link: 28568708
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternate-locus aware variant calling in whole genome sequencing.

Genome Medicine
Jäger, Marten M; Schubach, Max M; Zemojtel, Tomasz T; Reinert, Knut K; Church, Deanna M DM; Robinson, Peter N PN
Publication Date: 2016-12-13

Variant appearance in text: rs2071278
PubMed Link: 27964746
Variant Present in the following documents:
  • 13073_2016_383_MOESM1_ESM.pdf
View BVdb publication page



Phenome-wide association study maps new diseases to the human major histocompatibility complex region.

Journal Of Medical Genetics
Liu, Jixia J; Ye, Zhan Z; Mayer, John G JG; Hoch, Brian A BA; Green, Clayton C; Rolak, Loren L; Cold, Christopher C; Khor, Seik-Soon SS; Zheng, Xiuwen X; Miyagawa, Taku T; Tokunaga, Katsushi K; Brilliant, Murray H MH; Hebbring, Scott J SJ
Publication Date: 2016-10

Variant appearance in text: rs2071278
PubMed Link: 27287392
Variant Present in the following documents:
  • Main text
View BVdb publication page



Advanced glycation endproducts and their receptor in different body compartments in COPD.

Respiratory Research
Hoonhorst, Susan J M SJ; Lo Tam Loi, Adèle T AT; Pouwels, Simon D SD; Faiz, Alen A; Telenga, Eef D ED; van den Berge, Maarten M; Koenderman, Leo L; Lammers, Jan-Willem J JW; Boezen, H Marike HM; van Oosterhout, Antoon J M AJ; Lodewijk, Monique E ME; Timens, Wim W; Postma, Dirkje S DS; Ten Hacken, Nick H T NH
Publication Date: 2016-04-26

Variant appearance in text: rs2071278
PubMed Link: 27117828
Variant Present in the following documents:
  • Main text
  • 12931_2016_Article_363.pdf
View BVdb publication page



Making sense of GWAS: using epigenomics and genome engineering to understand the functional relevance of SNPs in non-coding regions of the human genome.

Epigenetics & Chromatin
Tak, Yu Gyoung YG; Farnham, Peggy J PJ
Publication Date: 2015

Variant appearance in text: rs2071278
PubMed Link: 26719772
Variant Present in the following documents:
  • Main text
  • 13072_2015_Article_50.pdf
View BVdb publication page



Enlight: web-based integration of GWAS results with biological annotations.

Bioinformatics (Oxford, England)
Guo, Yunfei Y; Conti, David V DV; Wang, Kai K
Publication Date: 2015-01-15

Variant appearance in text: rs2071278
PubMed Link: 25262152
Variant Present in the following documents:
  • Main text
View BVdb publication page



Host genetics and immune control of HIV-1 infection: fine mapping for the extended human MHC region in an African cohort.

Genes And Immunity
Prentice, H A HA; Pajewski, N M NM; He, D D; Zhang, K K; Brown, E E EE; Kilembe, W W; Allen, S S; Hunter, E E; Kaslow, R A RA; Tang, J J
Publication Date: 2014

Variant appearance in text: rs2071278
PubMed Link: 24784026
Variant Present in the following documents:
  • NIHMS580846-supplement-1.xlsx, sheet 3
View BVdb publication page



A comprehensive family-based replication study of schizophrenia genes.

Jama Psychiatry
Aberg, Karolina A KA; Liu, Youfang Y; Bukszár, Jozsef J; McClay, Joseph L JL; Khachane, Amit N AN; Andreassen, Ole A OA; Blackwood, Douglas D; Corvin, Aiden A; Djurovic, Srdjan S; Gurling, Hugh H; Ophoff, Roel R; Pato, Carlos N CN; Pato, Michele T MT; Riley, Brien B; Webb, Todd T; Kendler, Kenneth K; O'Donovan, Mick M; Craddock, Nick N; Kirov, George G; Owen, Mike M; Rujescu, Dan D; St Clair, David D; Werge, Thomas T; Hultman, Christina M CM; Delisi, Lynn E LE; Sullivan, Patrick P; van den Oord, Edwin J EJ
Publication Date: 2013-06

Variant appearance in text: rs2071278
PubMed Link: 23894747
Variant Present in the following documents:
  • Main text
View BVdb publication page



A genome-wide association analysis of a broad psychosis phenotype identifies three loci for further investigation.

Biological Psychiatry
, ; , ; Bramon, Elvira E; Pirinen, Matti M; Strange, Amy A; Lin, Kuang K; Freeman, Colin C; Bellenguez, Céline C; Su, Zhan Z; Band, Gavin G; Pearson, Richard R; Vukcevic, Damjan D; Langford, Cordelia C; Deloukas, Panos P; Hunt, Sarah S; Gray, Emma E; Dronov, Serge S; Potter, Simon C SC; Tashakkori-Ghanbaria, Avazeh A; Edkins, Sarah S; Bumpstead, Suzannah J SJ; Arranz, Maria J MJ; Bakker, Steven S; Bender, Stephan S; Bruggeman, Richard R; Cahn, Wiepke W; Chandler, David D; Collier, David A DA; Crespo-Facorro, Benedicto B; Dazzan, Paola P; de Haan, Lieuwe L; Di Forti, Marta M; Dragović, Milan M; Giegling, Ina I; Hall, Jeremy J; Iyegbe, Conrad C; Jablensky, Assen A; Kahn, René S RS; Kalaydjieva, Luba L; Kravariti, Eugenia E; Lawrie, Stephen S; Linszen, Don H DH; Mata, Ignacio I; McDonald, Colm C; McIntosh, Andrew A; Myin-Germeys, Inez I; Ophoff, Roel A RA; Pariante, Carmine M CM; Paunio, Tiina T; Picchioni, Marco M; , ; Ripke, Stephan S; Rujescu, Dan D; Sauer, Heinrich H; Shaikh, Madiha M; Sussmann, Jessika J; Suvisaari, Jaana J; Tosato, Sarah S; Toulopoulou, Timothea T; Van Os, Jim J; Walshe, Muriel M; Weisbrod, Matthias M; Whalley, Heather H; Wiersma, Durk D; Blackwell, Jenefer M JM; Brown, Matthew A MA; Casas, Juan P JP; Corvin, Aiden A; Duncanson, Audrey A; Jankowski, Janusz A Z JA; Markus, Hugh S HS; Mathew, Christopher G CG; Palmer, Colin N A CN; Plomin, Robert R; Rautanen, Anna A; Sawcer, Stephen J SJ; Trembath, Richard C RC; Wood, Nicholas W NW; Barroso, Ines I; Peltonen, Leena L; Lewis, Cathryn M CM; Murray, Robin M RM; Donnelly, Peter P; Powell, John J; Spencer, Chris C A CC
Publication Date: 2014-03-01

Variant appearance in text: rs2071278
PubMed Link: 23871474
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.

Plos Genetics
Yang, Xiaobo X; Sun, Jielin J; Gao, Yong Y; Tan, Aihua A; Zhang, Haiying H; Hu, Yanling Y; Feng, Junjie J; Qin, Xue X; Tao, Sha S; Chen, Zhuo Z; Kim, Seong-Tae ST; Peng, Tao T; Liao, Ming M; Lin, Xiaoling X; Zhang, Zengfeng Z; Tang, Minzhong M; Li, Li L; Mo, Linjian L; Liang, Zhengjia Z; Shi, Deyi D; Huang, Zhang Z; Huang, Xianghua X; Liu, Ming M; Liu, Qian Q; Zhang, Shijun S; Trent, Jeffrey M JM; Zheng, S Lilly SL; Xu, Jianfeng J; Mo, Zengnan Z
Publication Date: 2012-09

Variant appearance in text: rs2071278
PubMed Link: 23028341
Variant Present in the following documents:
  • Main text
  • pgen.1002916.pdf
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Network-assisted investigation of combined causal signals from genome-wide association studies in schizophrenia.

Plos Computational Biology
Jia, Peilin P; Wang, Lily L; Fanous, Ayman H AH; Pato, Carlos N CN; Edwards, Todd L TL; , ; Zhao, Zhongming Z
Publication Date: 2012

Variant appearance in text: rs2071278
PubMed Link: 22792057
Variant Present in the following documents:
  • Main text
  • pcbi.1002587.pdf
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A high-resolution linkage-disequilibrium map of the human major histocompatibility complex and first generation of tag single-nucleotide polymorphisms.

American Journal Of Human Genetics
Miretti, Marcos M MM; Walsh, Emily C EC; Ke, Xiayi X; Delgado, Marcos M; Griffiths, Mark M; Hunt, Sarah S; Morrison, Jonathan J; Whittaker, Pamela P; Lander, Eric S ES; Cardon, Lon R LR; Bentley, David R DR; Rioux, John D JD; Beck, Stephan S; Deloukas, Panos P
Publication Date: 2005-04

Variant appearance in text: rs2071278
PubMed Link: 15747258
Variant Present in the following documents:
  • Main text
View BVdb publication page