USF1 c.-56G>A

Variant ID: 1-161013121-C-T

NM_007122.4(USF1):c.-56G>A

This variant was identified in 34 publications

View GRCh38 version.




Publications:


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: USF1: -56G>A; rs2516839
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Genetic Predictors of the Development of Complications after Coronary Stenting.

Journal Of Personalized Medicine
Taizhanova, Dana D; Kalimbetova, Akerke A; Bodaubay, Roza R; Toleuova, Aliya A; Toiynbekova, Rakhima R; Beysenbekova, Zhazira Z; Visternichan, Olga O; Tauesheva, Zauresh Z; Kadyrova, Irina I; Babenko, Dmitriy D; Akhmaltdinova, Lyudmila L; Kolesnichenko, Svetlana S; Kolesnikova, Yevgeniya Y; Avdienko, Olga V OV; Akilzhanova, Ainur A; Gerotziafas, Grigorios T GT
Publication Date: 2022-12-22

Variant appearance in text: rs2516839
PubMed Link: 36675675
Variant Present in the following documents:
  • jpm-13-00014.pdf
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: USF1: -56G>A; rs2516839
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Polymorphic Variants of AGT, ABCA1, and CYBA Genes Influence the Survival of Patients with Coronary Artery Disease: A Prospective Cohort Study.

Genes
Balcerzyk-Matić, Anna A; Nowak, Tomasz T; Mizia-Stec, Katarzyna K; Iwanicka, Joanna J; Iwanicki, Tomasz T; Bańka, Paweł P; Jarosz, Alicja A; Filipecki, Artur A; Żak, Iwona I; Krauze, Jolanta J; Niemiec, Paweł P
Publication Date: 2022-11-18

Variant appearance in text: rs2516839
PubMed Link: 36421822
Variant Present in the following documents:
  • genes-13-02148.pdf
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: rs2516839
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



Effects of USF1 SNPs and SNP-Environment Interactions on Serum Lipid Profiles and the Risk of Early-Onset Coronary Artery Disease in the Chinese Population.

Frontiers In Cardiovascular Medicine
Zheng, Peng-Fei PF; Chen, Lu-Zhu LZ; Pan, Hong-Wei HW; Liu, Peng P; Zheng, Zhao-Fen ZF
Publication Date: 2022

Variant appearance in text: rs2516839
PubMed Link: 35783856
Variant Present in the following documents:
  • Main text
  • fcvm-09-882728.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: rs2516839
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
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: USF1: -56G>A; rs2516839
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, sheet 1
View BVdb publication page



Association of common gene-smoking interactions with elevated plasma apolipoprotein B concentration.

Lipids In Health And Disease
Roy, Nathalie N; Gaudet, Daniel D; Tremblay, Gérald G; Brisson, Diane D
Publication Date: 2020-05-19

Variant appearance in text: rs2516839
PubMed Link: 32430061
Variant Present in the following documents:
  • 12944_2020_Article_1287.pdf
View BVdb publication page



Gene-environment interactions due to quantile-specific heritability of triglyceride and VLDL concentrations.

Scientific Reports
Williams, Paul T PT
Publication Date: 2020-03-11

Variant appearance in text: rs2516839
PubMed Link: 32161301
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_60965.pdf
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: USF1: -56G>A; rs2516839
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Decreased Lung Tumor Development in SwAPP Mice through the Downregulation of CHI3L1 and STAT 3 Activity via the Upregulation of miRNA342-3p.

Molecular Therapy. Nucleic Acids
Lee, Dong Hun DH; Kim, Ki Cheon KC; Hwang, Chul Ju CJ; Park, Kyung Ran KR; Jung, Young Suk YS; Kim, Sun Young SY; Kim, Ji Young JY; Song, Ju Kyung JK; Song, Min Ji MJ; Choi, Min Ki MK; Hwang, Dae Youn DY; Han, Sang-Bae SB; Hong, Jin Tae JT
Publication Date: 2019-06-07

Variant appearance in text: rs2516839
PubMed Link: 30849743
Variant Present in the following documents:
  • mmc2.pdf
  • main.pdf
View BVdb publication page



Poststroke epilepsy: current perspectives on diagnosis and treatment.

Neuropsychiatric Disease And Treatment
Sarecka-Hujar, Beata B; Kopyta, Ilona I
Publication Date: 2019

Variant appearance in text: rs2516839
PubMed Link: 30636875
Variant Present in the following documents:
  • Main text
  • ndt-15-095.pdf
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: USF1: -56G>A; rs2516839
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
View BVdb publication page



A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine
Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H
Publication Date: 2018-09

Variant appearance in text: USF1: -56G>A; rs2516839
PubMed Link: 29974678
Variant Present in the following documents:
  • MGG3-6-739-s002.xlsx, sheet 5
  • MGG3-6-739-s002.xlsx, sheet 7
View BVdb publication page



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: USF1: -56G>A; rs2516839
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs2516839
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
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: USF1: -56G>A; rs2516839
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



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: rs2516839
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 3
View BVdb publication page



The rs2516839 Polymorphism of the USF1 Gene May Modulate Serum Triglyceride Levels in Response to Cigarette Smoking.

International Journal Of Molecular Sciences
Niemiec, Pawel P; Nowak, Tomasz T; Iwanicki, Tomasz T; Gorczynska-Kosiorz, Sylwia S; Balcerzyk, Anna A; Krauze, Jolanta J; Grzeszczak, Wladyslaw W; Wiecha, Maria M; Zak, Iwona I
Publication Date: 2015-06-10

Variant appearance in text: rs2516839
PubMed Link: 26068452
Variant Present in the following documents:
  • Main text
  • ijms-16-13203.pdf
View BVdb publication page



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: rs2516839
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page



USF-1 genetic polymorphisms confer a high risk of nonalcoholic fatty liver disease in Chinese population.

International Journal Of Clinical And Experimental Medicine
Wang, Ying Y; Wang, Bai-Fang BF; Tong, Jing J; Chang, Bing B; Wang, Bing-Yuan BY
Publication Date: 2015

Variant appearance in text: rs2516839
PubMed Link: 25932200
Variant Present in the following documents:
  • Main text
View BVdb publication page



Upstream Transcription Factor 1 (USF1) allelic variants regulate lipoprotein metabolism in women and USF1 expression in atherosclerotic plaque.

Scientific Reports
Fan, Yue-Mei YM; Hernesniemi, Jussi J; Oksala, Niku N; Levula, Mari M; Raitoharju, Emma E; Collings, Auni A; Hutri-Kähönen, Nina N; Juonala, Markus M; Marniemi, Jukka J; Lyytikäinen, Leo-Pekka LP; Seppälä, Ilkka I; Mennander, Ari A; Tarkka, Matti M; Kangas, Antti J AJ; Soininen, Pasi P; Salenius, Juha Pekka JP; Klopp, Norman N; Illig, Thomas T; Laitinen, Tomi T; Ala-Korpela, Mika M; Laaksonen, Reijo R; Viikari, Jorma J; Kähönen, Mika M; Raitakari, Olli T OT; Lehtimäki, Terho T
Publication Date: 2014-04-11

Variant appearance in text: rs2516839
PubMed Link: 24722012
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Common Polymorphism of Upstream Transcription Factor 1 Gene is associated with Lipid Profile: A Study in Chinese Type 2 Diabetes Families.

International Journal Of Biomedical Science : Ijbs
Song, Yan Y; Li, Na N; He, Liu L; Xun, Tang T; Chen, Dafang D; Hu, Yonghua Y
Publication Date: 2009-09

Variant appearance in text: rs2516839
PubMed Link: 23675152
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic polymorphisms in LDLR, APOB, PCSK9 and other lipid related genes associated with familial hypercholesterolemia in Malaysia.

Plos One
Lye, Say-Hean SH; Chahil, Jagdish Kaur JK; Bagali, Pramod P; Alex, Livy L; Vadivelu, Jamunarani J; Ahmad, Wan Azman Wan WA; Chan, Siew-Pheng SP; Thong, Meow-Keong MK; Zain, Shamsul Mohd SM; Mohamed, Rosmawati R
Publication Date: 2013

Variant appearance in text: rs2516839
PubMed Link: 23593297
Variant Present in the following documents:
  • Main text
  • pone.0060729.pdf
View BVdb publication page



The paradox of ApoA5 modulation of triglycerides: evidence from clinical and basic research.

Clinical Biochemistry
Garelnabi, Mahdi M; Lor, Kenton K; Jin, Jun J; Chai, Fei F; Santanam, Nalini N
Publication Date: 2013-01

Variant appearance in text: rs2516839
PubMed Link: 23000317
Variant Present in the following documents:
  • Main text
View BVdb publication page



Upstream transcription factor 1 (USF1) polymorphisms associate with Alzheimer's disease-related neuropathological lesions: Tampere Autopsy Study.

Brain Pathology (Zurich, Switzerland)
Isotalo, Karita K; Kok, Eloise Helena EH; Luoto, Teemu M TM; Haikonen, Satu S; Haapasalo, Hannu H; Lehtimäki, Terho T; Karhunen, Pekka J PJ
Publication Date: 2012-11

Variant appearance in text: rs2516839
PubMed Link: 22390463
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variants and their interactions in the prediction of increased pre-clinical carotid atherosclerosis: the cardiovascular risk in young Finns study.

Plos Genetics
Okser, Sebastian S; Lehtimäki, Terho T; Elo, Laura L LL; Mononen, Nina N; Peltonen, Nina N; Kähönen, Mika M; Juonala, Markus M; Fan, Yue-Mei YM; Hernesniemi, Jussi A JA; Laitinen, Tomi T; Lyytikäinen, Leo-Pekka LP; Rontu, Riikka R; Eklund, Carita C; Hutri-Kähönen, Nina N; Taittonen, Leena L; Hurme, Mikko M; Viikari, Jorma S A JS; Raitakari, Olli T OT; Aittokallio, Tero T
Publication Date: 2010-09-30

Variant appearance in text: rs2516839
PubMed Link: 20941391
Variant Present in the following documents:
  • Main text
  • pgen.1001146.pdf
  • pgen.1001146.s010.pdf
View BVdb publication page



Gene-gene interaction between APOA5 and USF1: two candidate genes for the metabolic syndrome.

Obesity Facts
Singmann, Paula P; Baumert, Jens J; Herder, Christian C; Meisinger, Christa C; Holzapfel, Christina C; Klopp, Norman N; Wichmann, H-Erich HE; Klingenspor, Martin M; Rathmann, Wolfgang W; Illig, Thomas T; Grallert, Harald H
Publication Date: 2009

Variant appearance in text: rs2516839
PubMed Link: 20054229
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic association and interaction analysis of USF1 and APOA5 on lipid levels and atherosclerosis.

Arteriosclerosis, Thrombosis, And Vascular Biology
Laurila, Pirkka-Pekka PP; Naukkarinen, Jussi J; Kristiansson, Kati K; Ripatti, Samuli S; Kauttu, Tuuli T; Silander, Kaisa K; Salomaa, Veikko V; Perola, Markus M; Karhunen, Pekka J PJ; Barter, Philip J PJ; Ehnholm, Christian C; Peltonen, Leena L
Publication Date: 2010-02

Variant appearance in text: rs2516839
PubMed Link: 19910639
Variant Present in the following documents:
  • Main text
View BVdb publication page



Body mass index is associated with USF1 haplotype in Korean premenopausal women.

Journal Of Korean Medical Science
Lee, Seong-Kyu SK; Kim, Hyun-Jin HJ; Kim, Byung-Joon BJ; Jo, Young-Suk YS; Park, Kang-Seo KS; Baik, Haing-Woon HW; Hyun, Sung Hee SH; Lee, Je Chul JC; Kim, Soon Ae SA
Publication Date: 2008-02

Variant appearance in text: rs2516839
PubMed Link: 18303204
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association analysis of allelic variants of USF1 in coronary atherosclerosis.

Arteriosclerosis, Thrombosis, And Vascular Biology
Kristiansson, Kati K; Ilveskoski, Erkki E; Lehtimäki, Terho T; Peltonen, Leena L; Perola, Markus M; Karhunen, Pekka J PJ
Publication Date: 2008-05

Variant appearance in text: rs2516839
PubMed Link: 18276913
Variant Present in the following documents:
  • Main text
View BVdb publication page



Risk alleles of USF1 gene predict cardiovascular disease of women in two prospective studies.

Plos Genetics
Komulainen, Kati K; Alanne, Mervi M; Auro, Kirsi K; Kilpikari, Riika R; Pajukanta, Päivi P; Saarela, Janna J; Ellonen, Pekka P; Salminen, Kaisa K; Kulathinal, Sangita S; Kuulasmaa, Kari K; Silander, Kaisa K; Salomaa, Veikko V; Perola, Markus M; Peltonen, Leena L
Publication Date: 2006-05

Variant appearance in text: rs2516839
PubMed Link: 16699592
Variant Present in the following documents:
  • Main text
  • pgen.0020069.pdf
View BVdb publication page



Association testing in a linked region using large pedigrees.

American Journal Of Human Genetics
Cantor, Rita M RM; Chen, Gary K GK; Pajukanta, Päivi P; Lange, Kenneth K
Publication Date: 2005-03

Variant appearance in text: rs2516839
PubMed Link: 15657872
Variant Present in the following documents:
  • Main text
View BVdb publication page