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: rs4541111

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

---

Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-25

Variant appearance in text: rs4541111

PubMed Link: 36966136

Variant Present in the following documents:

• 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2

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: rs4541111

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

---

Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: rs4541111

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2

View BVdb publication page

---

Gene-gene interaction of AhRwith and within the Wntcascade affects susceptibility to lung cancer.

European Journal Of Medical Research

Rosenberger, Albert A; Muttray, Nils N; Hung, Rayjean J RJ; Christiani, David C DC; Caporaso, Neil E NE; Liu, Geoffrey G; Bojesen, Stig E SE; Le Marchand, Loic L; Albanes, Demetrios D; Aldrich, Melinda C MC; Tardon, Adonina A; Fernández-Tardón, Guillermo G; Rennert, Gad G; Field, John K JK; Davies, Michael P A MPA; Liloglou, Triantafillos T; Kiemeney, Lambertus A LA; Lazarus, Philip P; Wendel, Bernadette B; Haugen, Aage A; Zienolddiny, Shanbeh S; Lam, Stephen S; Schabath, Matthew B MB; Andrew, Angeline S AS; Duell, Eric J EJ; Arnold, Susanne M SM; Goodman, Gary E GE; Chen, Chu C; Doherty, Jennifer A JA; Taylor, Fiona F; Cox, Angela A; Woll, Penella J PJ; Risch, Angela A; Muley, Thomas R TR; Johansson, Mikael M; Brennan, Paul P; Landi, Maria Teresa MT; Shete, Sanjay S SS; Amos, Christopher I CI; Bickeböller, Heike H; ,

Publication Date: 2022-01-31

Variant appearance in text: rs4541111

PubMed Link: 35101137

Variant Present in the following documents:

• 40001_2022_638_MOESM1_ESM.pdf

View BVdb publication page

---

Gene-gene interaction of AhRwith and within the Wntcascade affects susceptibility to lung cancer.

European Journal Of Medical Research

Rosenberger, Albert A; Muttray, Nils N; Hung, Rayjean J RJ; Christiani, David C DC; Caporaso, Neil E NE; Liu, Geoffrey G; Bojesen, Stig E SE; Le Marchand, Loic L; Albanes, Demetrios D; Aldrich, Melinda C MC; Tardon, Adonina A; Fernández-Tardón, Guillermo G; Rennert, Gad G; Field, John K JK; Davies, Michael P A MPA; Liloglou, Triantafillos T; Kiemeney, Lambertus A LA; Lazarus, Philip P; Wendel, Bernadette B; Haugen, Aage A; Zienolddiny, Shanbeh S; Lam, Stephen S; Schabath, Matthew B MB; Andrew, Angeline S AS; Duell, Eric J EJ; Arnold, Susanne M SM; Goodman, Gary E GE; Chen, Chu C; Doherty, Jennifer A JA; Taylor, Fiona F; Cox, Angela A; Woll, Penella J PJ; Risch, Angela A; Muley, Thomas R TR; Johansson, Mikael M; Brennan, Paul P; Landi, Maria Teresa MT; Shete, Sanjay S SS; Amos, Christopher I CI; Bickeböller, Heike H; ,

Publication Date: 2022-01-31

Variant appearance in text: rs4541111

PubMed Link: 35101137

Variant Present in the following documents:

• 40001_2022_638_MOESM1_ESM.pdf

View BVdb publication page

---

Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: AXIN2: 1060-77G>T; rs4541111

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)

Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S

Publication Date: 2021-06

Variant appearance in text: AXIN2: 1060-77G>T; rs4541111

PubMed Link: 33503336

Variant Present in the following documents:

• CNR2-4-e1335-s003.xlsx, sheet 2
• CNR2-4-e1335-s003.xlsx, sheet 1

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: AXIN2: 1060-77G>T; rs4541111

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1
• Table_6.xlsx, sheet 1

View BVdb publication page

---

The phosphatidylinositide 3-kinase (PI3K) signaling pathway is a determinant of zileuton response in adults with asthma.

The Pharmacogenomics Journal

Dahlin, Amber A; Qiu, Weiliang W; Litonjua, Augusto A AA; Lima, John J JJ; Tamari, Mayumi M; Kubo, Michiaki M; Irvin, Charles G CG; Peters, Stephen P SP; Wu, Ann C AC; Weiss, Scott T ST; Tantisira, Kelan G KG

Publication Date: 2018-09

Variant appearance in text: rs4541111

PubMed Link: 29298996

Variant Present in the following documents:

• Main text
• 41397_2017_Article_6.pdf

View BVdb publication page

---

Genome-wide genetic and epigenetic analyses of pancreatic acinar cell carcinomas reveal aberrations in genome stability.

Nature Communications

Jäkel, Cornelia C; Bergmann, Frank F; Toth, Reka R; Assenov, Yassen Y; van der Duin, Daniel D; Strobel, Oliver O; Hank, Thomas T; Klöppel, Günter G; Dorrell, Craig C; Grompe, Markus M; Moss, Joshua J; Dor, Yuval Y; Schirmacher, Peter P; Plass, Christoph C; Popanda, Odilia O; Schmezer, Peter P

Publication Date: 2017-11-06

Variant appearance in text: rs4541111

PubMed Link: 29109526

Variant Present in the following documents:

• 41467_2017_1118_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

---

Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer

Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F

Publication Date: 2017-05-12

Variant appearance in text: rs4541111

PubMed Link: 28499365

Variant Present in the following documents:

• 12885_2017_3314_MOESM1_ESM.xls, sheet 1

View BVdb publication page

---

Investigating polymorphisms by bioinformatics is a potential cost-effective method to screen for germline mutations in Chinese familial adenomatous polyposis patients.

Oncology Letters

Yang, Jun J; Liu, Wei Qing WQ; Li, Wen Liang WL; Chen, Cheng C; Zhu, Zhu Z; Hong, Min M; Wang, Zhi Qiang ZQ; Dong, Jian J

Publication Date: 2016-07

Variant appearance in text: rs4541111

PubMed Link: 27347161

Variant Present in the following documents:

• Main text
• ol-12-01-0421.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: rs4541111

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2

View BVdb publication page

---

Wnt signaling pathway pharmacogenetics in non-small cell lung cancer.

The Pharmacogenomics Journal

Stewart, D J DJ; Chang, D W DW; Ye, Y Y; Spitz, M M; Lu, C C; Shu, X X; Wampfler, J A JA; Marks, R S RS; Garces, Y I YI; Yang, P P; Wu, X X

Publication Date: 2014-12

Variant appearance in text: rs4541111

PubMed Link: 24980784

Variant Present in the following documents:

• Main text
• nihms586716.pdf

View BVdb publication page

---

Association analysis of canonical Wnt signalling genes in diabetic nephropathy.

Plos One

Kavanagh, David H DH; Savage, David A DA; Patterson, Christopher C CC; McKnight, Amy Jayne AJ; Crean, John K JK; Maxwell, Alexander P AP; McKay, Gareth J GJ; ,

Publication Date: 2011

Variant appearance in text: rs4541111

PubMed Link: 21876774

Variant Present in the following documents:

• Main text
• pone.0023904.pdf

View BVdb publication page

---