SMAD3 c.400+59G>T

Variant ID: 15-67457485-G-T

NM_005902.3(SMAD3):c.400+59G>T

This variant was identified in 18 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: rs2289261
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Association Between Genetic Risk, Adherence to Healthy Lifestyle Behavior, and Thyroid Cancer Risk.

Jama Network Open
Feng, Xiuming X; Wang, Fei F; Yang, Wenjun W; Zheng, Yuan Y; Liu, Chaoqun C; Huang, Lulu L; Li, Longman L; Cheng, Hong H; Cai, Haiqing H; Li, Xiangzhi X; Chen, Xing X; Yang, Xiaobo X
Publication Date: 2022-12-01

Variant appearance in text: rs2289261
PubMed Link: 36508215
Variant Present in the following documents:
  • jamanetwopen-e2246311-s001.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: rs2289261
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Integrated proteogenomic characterization across major histological types of pituitary neuroendocrine tumors.

Cell Research
Zhang, Fan F; Zhang, Qilin Q; Zhu, Jiajun J; Yao, Boyuan B; Ma, Chi C; Qiao, Nidan N; He, Shiman S; Ye, Zhao Z; Wang, Yunzhi Y; Han, Rui R; Feng, Jinwen J; Wang, Yongfei Y; Qin, Zhaoyu Z; Ma, Zengyi Z; Li, Kai K; Zhang, Yichao Y; Tian, Sha S; Chen, Zhengyuan Z; Tan, Subei S; Wu, Yue Y; Ran, Peng P; Wang, Ye Y; Ding, Chen C; Zhao, Yao Y
Publication Date: 2022-12

Variant appearance in text: rs2289261
PubMed Link: 36307579
Variant Present in the following documents:
  • 41422_2022_736_MOESM10_ESM.xlsx, sheet 3
View BVdb publication page



Evolutionary Origins of Metabolic Reprogramming in Cancer.

International Journal Of Molecular Sciences
García-Sancha, Natalia N; Corchado-Cobos, Roberto R; Gómez-Vecino, Aurora A; Jiménez-Navas, Alejandro A; Pérez-Baena, Manuel Jesús MJ; Blanco-Gómez, Adrián A; Holgado-Madruga, Marina M; Mao, Jian-Hua JH; Cañueto, Javier J; Castillo-Lluva, Sonia S; Mendiburu-Eliçabe, Marina M; Pérez-Losada, Jesús J
Publication Date: 2022-10-11

Variant appearance in text: rs2289261
PubMed Link: 36292921
Variant Present in the following documents:
  • ijms-23-12063.pdf
View BVdb publication page



Genetic susceptibility to hereditary non-medullary thyroid cancer.

Hereditary Cancer In Clinical Practice
Kamani, Tina T; Charkhchi, Parsa P; Zahedi, Afshan A; Akbari, Mohammad R MR
Publication Date: 2022-03-07

Variant appearance in text: rs2289261
PubMed Link: 35255942
Variant Present in the following documents:
  • Main text
  • 13053_2022_Article_215.pdf
View BVdb publication page



Emerging Biomarkers in Thyroid Practice and Research.

Cancers
Agarwal, Shipra S; Bychkov, Andrey A; Jung, Chan-Kwon CK
Publication Date: 2021-12-31

Variant appearance in text: rs2289261
PubMed Link: 35008368
Variant Present in the following documents:
  • Main text
  • cancers-14-00204.pdf
View BVdb publication page



Emerging Biomarkers in Thyroid Practice and Research.

Cancers
Agarwal, Shipra S; Bychkov, Andrey A; Jung, Chan-Kwon CK
Publication Date: 2021-12-31

Variant appearance in text: rs2289261
PubMed Link: 35008368
Variant Present in the following documents:
  • Main text
  • cancers-14-00204.pdf
View BVdb publication page



Genetic Mutations and Variants in the Susceptibility of Familial Non-Medullary Thyroid Cancer.

Genes
Miasaki, Fabíola Yukiko FY; Fuziwara, Cesar Seigi CS; Carvalho, Gisah Amaral de GA; Kimura, Edna Teruko ET
Publication Date: 2020-11-18

Variant appearance in text: rs2289261
PubMed Link: 33218058
Variant Present in the following documents:
  • Main text
  • genes-11-01364.pdf
View BVdb publication page



Assessing thyroid cancer risk using polygenic risk scores.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Liyanarachchi, Sandya S; Gudmundsson, Julius J; Ferkingstad, Egil E; He, Huiling H; Jonasson, Jon G JG; Tragante, Vinicius V; Asselbergs, Folkert W FW; Xu, Li L; Kiemeney, Lambertus A LA; Netea-Maier, Romana T RT; Mayordomo, Jose I JI; Plantinga, Theo S TS; Hjartarson, Hannes H; Hrafnkelsson, Jon J; Sturgis, Erich M EM; Brock, Pamela P; Nabhan, Fadi F; Thorleifsson, Gudmar G; Ringel, Matthew D MD; Stefansson, Kari K; de la Chapelle, Albert A
Publication Date: 2020-03-17

Variant appearance in text: rs2289261
PubMed Link: 32132206
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Single-Nucleotide Polymorphism (rs1131243) of the Transforming Growth Factor Beta Signaling Pathway Contributes to Risk of Acute Rejection in Chinese Renal Transplant Recipients.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research
Zheng, Ming M; Yang, Haiwei H; Li, Wencheng W; Zhou, Jiajun J; Wei, Jintao J; Wang, Zijie Z; Guo, Miao M; Chen, Hao H; Sun, Li L; Han, Zhijian Z; Tao, Jun J; Ju, Xiaobing X; Tan, Ruoyun R; Wei, Jifu J; Gu, Min M
Publication Date: 2019-12-01

Variant appearance in text: rs2289261
PubMed Link: 31786580
Variant Present in the following documents:
  • Main text
  • medscimonit-25-9138.pdf
View BVdb publication page



Stochastic search and joint fine-mapping increases accuracy and identifies previously unreported associations in immune-mediated diseases.

Nature Communications
Asimit, Jennifer L JL; Rainbow, Daniel B DB; Fortune, Mary D MD; Grinberg, Nastasiya F NF; Wicker, Linda S LS; Wallace, Chris C
Publication Date: 2019-07-19

Variant appearance in text: rs2289261
PubMed Link: 31324808
Variant Present in the following documents:
  • Main text
  • 41467_2019_Article_11271.pdf
View BVdb publication page



The Role of the NIS (SLC5A5) Gene in Papillary Thyroid Cancer: A Systematic Review.

International Journal Of Endocrinology
de Morais, Rafael Martins RM; Sobrinho, Alaor Barra AB; de Souza Silva, Calliandra Maria CM; de Oliveira, Jamila Reis JR; da Silva, Izabel Cristina Rodrigues ICR; de Toledo Nóbrega, Otávio O
Publication Date: 2018

Variant appearance in text: rs2289261
PubMed Link: 30595693
Variant Present in the following documents:
  • Main text
  • IJE2018-9128754.pdf
View BVdb publication page



Thyroid cancers of follicular origin in a genomic light: in-depth overview of common and unique molecular marker candidates.

Molecular Cancer
Pstrąg, Natalia N; Ziemnicka, Katarzyna K; Bluyssen, Hans H; Wesoły, Joanna J
Publication Date: 2018-08-08

Variant appearance in text: rs2289261
PubMed Link: 30089490
Variant Present in the following documents:
  • Main text
  • 12943_2018_Article_866.pdf
View BVdb publication page



Genetic Polymorphism Predisposing to Differentiated Thyroid Cancer: A Review of Major Findings of the Genome-Wide Association Studies.

Endocrinology And Metabolism (Seoul, Korea)
Saenko, Vladimir A VA; Rogounovitch, Tatiana I TI
Publication Date: 2018-06

Variant appearance in text: rs2289261
PubMed Link: 29947173
Variant Present in the following documents:
  • Main text
  • enm-33-164.pdf
View BVdb publication page



The role of SMAD3 in the genetic predisposition to papillary thyroid carcinoma.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Wang, Yanqiang Y; He, Huiling H; Liyanarachchi, Sandya S; Genutis, Luke K LK; Li, Wei W; Yu, Lianbo L; Phay, John E JE; Shen, Rulong R; Brock, Pamela P; de la Chapelle, Albert A
Publication Date: 2018-09

Variant appearance in text: rs2289261
PubMed Link: 29300379
Variant Present in the following documents:
  • Main text
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: rs2289261
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



A genome-wide association study yields five novel thyroid cancer risk loci.

Nature Communications
Gudmundsson, Julius J; Thorleifsson, Gudmar G; Sigurdsson, Jon K JK; Stefansdottir, Lilja L; Jonasson, Jon G JG; Gudjonsson, Sigurjon A SA; Gudbjartsson, Daniel F DF; Masson, Gisli G; Johannsdottir, Hrefna H; Halldorsson, Gisli H GH; Stacey, Simon N SN; Helgason, Hannes H; Sulem, Patrick P; Senter, Leigha L; He, Huiling H; Liyanarachchi, Sandya S; Ringel, Matthew D MD; Aguillo, Esperanza E; Panadero, Angeles A; Prats, Enrique E; Garcia-Castaño, Almudena A; De Juan, Ana A; Rivera, Fernando F; Xu, Li L; Kiemeney, Lambertus A LA; Eyjolfsson, Gudmundur I GI; Sigurdardottir, Olof O; Olafsson, Isleifur I; Kristvinsson, Hoskuldur H; Netea-Maier, Romana T RT; Jonsson, Thorvaldur T; Mayordomo, Jose I JI; Plantinga, Theo S TS; Hjartarson, Hannes H; Hrafnkelsson, Jon J; Sturgis, Erich M EM; Thorsteinsdottir, Unnur U; Rafnar, Thorunn T; de la Chapelle, Albert A; Stefansson, Kari K
Publication Date: 2017-02-14

Variant appearance in text: rs2289261
PubMed Link: 28195142
Variant Present in the following documents:
  • Main text
  • ncomms14517-s1.pdf
  • ncomms14517.pdf
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: rs2289261
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 2
View BVdb publication page