Publications:

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Significance of logistic regression scoring model based on natural killer cell-mediated cytotoxic pathway in the diagnosis of colon cancer.

Frontiers In Immunology

Ye, Zhen Z; Zhang, Huanhuan H; Liang, Jianwei J; Yi, Shuying S; Zhan, Xianquan X

Publication Date: 2023

Variant appearance in text: SMAD3: R420H; rs762012589

PubMed Link: 36742322

Variant Present in the following documents:

• Table_8.xlsx, sheet 1

View BVdb publication page

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Aberrations in SMAD family of genes among HNSCC patients.

Bioinformation

Thariny, E E; Smiline Girija, A M AM; Paramasivam, A A; Vijayashree Priyadharsini, J J

Publication Date: 2021

Variant appearance in text: rs762012589

PubMed Link: 35291342

Variant Present in the following documents:

• Main text
• 973206300171113.pdf

View BVdb publication page

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Spatially interacting phosphorylation sites and mutations in cancer.

Nature Communications

Huang, Kuan-Lin KL; Scott, Adam D AD; Zhou, Daniel Cui DC; Wang, Liang-Bo LB; Weerasinghe, Amila A; Elmas, Abdulkadir A; Liu, Ruiyang R; Wu, Yige Y; Wendl, Michael C MC; Wyczalkowski, Matthew A MA; Baral, Jessika J; Sengupta, Sohini S; Lai, Chin-Wen CW; Ruggles, Kelly K; Payne, Samuel H SH; Raphael, Benjamin B; Fenyö, David D; Chen, Ken K; Mills, Gordon G; Ding, Li L

Publication Date: 2021-04-19

Variant appearance in text: SMAD3: R420H

PubMed Link: 33875650

Variant Present in the following documents:

• 41467_2021_22481_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: SMAD3: R420H

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: SMAD3: 1259G>A; R420H

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.

Human Mutation

Schepers, Dorien D; Tortora, Giada G; Morisaki, Hiroko H; MacCarrick, Gretchen G; Lindsay, Mark M; Liang, David D; Mehta, Sarju G SG; Hague, Jennifer J; Verhagen, Judith J; van de Laar, Ingrid I; Wessels, Marja M; Detisch, Yvonne Y; van Haelst, Mieke M; Baas, Annette A; Lichtenbelt, Klaske K; Braun, Kees K; van der Linde, Denise D; Roos-Hesselink, Jolien J; McGillivray, George G; Meester, Josephina J; Maystadt, Isabelle I; Coucke, Paul P; El-Khoury, Elie E; Parkash, Sandhya S; Diness, Birgitte B; Risom, Lotte L; Scurr, Ingrid I; Hilhorst-Hofstee, Yvonne Y; Morisaki, Takayuki T; Richer, Julie J; Désir, Julie J; Kempers, Marlies M; Rideout, Andrea L AL; Horne, Gabrielle G; Bennett, Chris C; Rahikkala, Elisa E; Vandeweyer, Geert G; Alaerts, Maaike M; Verstraeten, Aline A; Dietz, Hal H; Van Laer, Lut L; Loeys, Bart B

Publication Date: 2018-05

Variant appearance in text: SMAD3: Arg420His

PubMed Link: 29392890

Variant Present in the following documents:

• Main text
• HUMU-39-621.pdf
• HUMU-39-621-s001.pdf

View BVdb publication page

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: SMAD3: R420H

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: SMAD3: 1259G>A; R420H

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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A Novel Mutation of SMAD3 Identified in a Chinese Family with Aneurysms-Osteoarthritis Syndrome.

Biomed Research International

Zhang, Wenwen W; Zhou, Min M; Liu, Cheng C; Liu, Chen C; Qiao, Tong T; Huang, Dian D; Ran, Feng F; Wang, Wei W; Liu, Changjian C; Liu, Zhao Z

Publication Date: 2015

Variant appearance in text: SMAD3: 1259G>A; Arg420His

PubMed Link: 26221609

Variant Present in the following documents:

• Main text
• BMRI2015-968135.pdf

View BVdb publication page

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: SMAD3: R420H

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-6.xlsx, sheet 1

View BVdb publication page

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