CD40 c.675+216A>G

Variant ID: 20-44757213-A-G

NM_001250.4(CD40):c.675+216A>G

This variant was identified in 11 publications

View GRCh38 version.




Publications:


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: rs3765457
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research
Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K
Publication Date: 2022-11-21

Variant appearance in text: CD40: 675+216A>G; rs3765457
PubMed Link: 36409824
Variant Present in the following documents:
  • can-22-0423_supplementary_table_s3_suppst3.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: rs3765457
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



Precision Medicine in Graves' Disease: CD40 Gene Variants Predict Clinical Response to an Anti-CD40 Monoclonal Antibody.

Frontiers In Endocrinology
Faustino, Larissa C LC; Kahaly, George J GJ; Frommer, Lara L; Concepcion, Erlinda E; Stefan-Lifshitz, Mihaela M; Tomer, Yaron Y
Publication Date: 2021

Variant appearance in text: rs3765457
PubMed Link: 34149627
Variant Present in the following documents:
  • Main text
  • fendo-12-691781.pdf
View BVdb publication page



Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08

Variant appearance in text: rs3765457
PubMed Link: 33420045
Variant Present in the following documents:
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Predictive Value of Gene Polymorphisms on Recurrence after the Withdrawal of Antithyroid Drugs in Patients with Graves' Disease.

Frontiers In Endocrinology
Liu, Jia J; Fu, Jing J; Duan, Yan Y; Wang, Guang G
Publication Date: 2017

Variant appearance in text: rs3765457
PubMed Link: 29085334
Variant Present in the following documents:
  • Main text
  • fendo-08-00258.pdf
View BVdb publication page



Replication and validation of genetic polymorphisms associated with survival after allogeneic blood or marrow transplant.

Blood
Karaesmen, Ezgi E; Rizvi, Abbas A AA; Preus, Leah M LM; McCarthy, Philip L PL; Pasquini, Marcelo C MC; Onel, Kenan K; Zhu, Xiaochun X; Spellman, Stephen S; Haiman, Christopher A CA; Stram, Daniel O DO; Pooler, Loreall L; Sheng, Xin X; Zhu, Qianqian Q; Yan, Li L; Liu, Qian Q; Hu, Qiang Q; Webb, Amy A; Brock, Guy G; Clay-Gilmour, Alyssa I AI; Battaglia, Sebastiano S; Tritchler, David D; Liu, Song S; Hahn, Theresa T; Sucheston-Campbell, Lara E LE
Publication Date: 2017-09-28

Variant appearance in text: rs3765457
PubMed Link: 28811306
Variant Present in the following documents:
  • Main text
View BVdb publication page



Antithyroid Drug Therapy for Graves' Disease and Implications for Recurrence.

International Journal Of Endocrinology
Liu, Jia J; Fu, Jing J; Xu, Yuan Y; Wang, Guang G
Publication Date: 2017

Variant appearance in text: rs3765457
PubMed Link: 28529524
Variant Present in the following documents:
  • Main text
  • IJE2017-3813540.pdf
View BVdb publication page



Immunogenetics of autoimmune thyroid diseases: A comprehensive review.

Journal Of Autoimmunity
Lee, Hanna J HJ; Li, Cheuk Wun CW; Hammerstad, Sara Salehi SS; Stefan, Mihaela M; Tomer, Yaron Y
Publication Date: 2015-11

Variant appearance in text: rs3765457
PubMed Link: 26235382
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genotype and phenotype predictors of relapse of graves' disease after antithyroid drug withdrawal.

European Thyroid Journal
Wang, Pei-Wen PW; Chen, I-Ya IY; Juo, Suh-Hang Hank SH; Hsi, Edward E; Liu, Rue-Tsuan RT; Hsieh, Ching-Jung CJ
Publication Date: 2013-01

Variant appearance in text: rs3765457
PubMed Link: 24783027
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive gene-based association study of a chromosome 20 linked region implicates novel risk loci for depressive symptoms in psychotic illness.

Plos One
Bigdeli, T Bernard TB; Maher, Brion S BS; Zhao, Zhongming Z; Oord, Edwin J C G van den EJ; Thiselton, Dawn L DL; Sun, Jingchun J; Webb, Bradley T BT; Amdur, Richard L RL; Wormley, Brandon B; O'Neill, Francis A FA; Walsh, Dermot D; Riley, Brien P BP; Kendler, Kenneth S KS; Fanous, Ayman H AH
Publication Date: 2011

Variant appearance in text: rs3765457
PubMed Link: 22220189
Variant Present in the following documents:
  • Main text
  • pone.0021440.pdf
View BVdb publication page