Publications:

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Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: rs11086998

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Genetic variation in genes of inborn errors of immunity in children with unexplained encephalitis.

Genes And Immunity

Malik, Devesh D; Simon, Dennis W DW; Thakkar, Kavita K; Rajan, Deepa S DS; Kernan, Kate F KF

Publication Date: 2022-11

Variant appearance in text: CD40: Pro227Ala

PubMed Link: 36198812

Variant Present in the following documents:

• Main text
• 41435_2022_Article_185.pdf

View BVdb publication page

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Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications

Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H

Publication Date: 2019-09-12

Variant appearance in text: CD40: 679C>G; P227A; rs11086998

PubMed Link: 31515488

Variant Present in the following documents:

• 41467_2019_11959_MOESM11_ESM.xlsx, sheet 1
• 41467_2019_11959_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Analysis of Genetic Variation in CD40 and CD40L: Relationship with mRNA Relative Expression and Soluble Proteins in Acute Coronary Syndrome.

Journal Of Immunology Research

Martínez-Fernández, D E DE; Padilla-Gutiérrez, J R JR; Casillas-Muñoz, F F; Valdés-Alvarado, Emmanuel E; Parra-Reyna, Brenda B; Aceves-Ramírez, Maricela M; Muñoz-Valle, J F JF; Zalapa Flores, U U; Chávez Herrera, J C JC; Valle, Y Y

Publication Date: 2019

Variant appearance in text: CD40: 679C>G; rs11086998

PubMed Link: 31183392

Variant Present in the following documents:

• Main text
• JIR2019-8063983.pdf

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: CD40: 679C>G; Pro227Ala

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications

Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N

Publication Date: 2018-11-01

Variant appearance in text: CD40: P227A; rs11086998

PubMed Link: 30385747

Variant Present in the following documents:

• 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs11086998

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Genetics of Lupus Nephritis: Clinical Implications.

Seminars In Nephrology

Munroe, Melissa E ME; James, Judith A JA

Publication Date: 2015-09

Variant appearance in text: CD40: P227A

PubMed Link: 26573543

Variant Present in the following documents:

• Main text

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: CD40: P227A

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: CD40: P227A; rs11086998

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: rs11086998

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics

Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S

Publication Date: 2013-11

Variant appearance in text: CD40: P227A; rs11086998

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

View BVdb publication page

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Association of SNPs of CD40 gene with multiple sclerosis in Russians.

Plos One

Sokolova, Ekaterina Alekseevna EA; Malkova, Nadezhda Alekseevna NA; Korobko, Denis Sergeevich DS; Rozhdestvenskii, Aleksey Sergeevich AS; Kakulya, Anastasia Vladimirovna AV; Khanokh, Elena Vladimirovna EV; Delov, Roman Andreevich RA; Platonov, Fedor Alekseevich FA; Popova, Tatyana Yegorovna TY; Aref' eva, Elena Gennadievna EG; Zagorskaya, Natalia Nikolaevna NN; Alifirova, Valentina Mikhailovna VM; Titova, Marina Andreevna MA; Smagina, Inna Vadimovna IV; El' chaninova, Svetlana Alksandrovna SA; Popovtseva, Anna Valentinovna AV; Puzyrev, Valery Pavlovich VP; Kulakova, Olga Georgievna OG; Tsareva, Ekaterina Yur'evna EY; Favorova, Olga Olegovna OO; Shchur, Sergei Gennadievich SG; Lashch, Natalia Yurievna NY; Popova, Natalia Fyodorovna NF; Popova, Ekaterina Valerievna EV; Gusev, Evgenii Ivanovich EI; Boyko, Aleksey Nikolaevich AN; Aulchenko, Yurii Sergeevich YS; Filipenko, Maxim Leonidovich ML

Publication Date: 2013

Variant appearance in text: CD40: P227A; rs11086998

PubMed Link: 23613777

Variant Present in the following documents:

• Main text
• pone.0061032.pdf

View BVdb publication page

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Roles of tumor necrosis factor receptor associated factor 3 (TRAF3) and TRAF5 in immune cell functions.

Immunological Reviews

Hildebrand, Joanne M JM; Yi, Zuoan Z; Buchta, Claire M CM; Poovassery, Jayakumar J; Stunz, Laura L LL; Bishop, Gail A GA

Publication Date: 2011-11

Variant appearance in text: CD40: P227A

PubMed Link: 22017431

Variant Present in the following documents:

• Main text

View BVdb publication page

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Differential TRAF3 utilization by a variant human CD40 receptor with enhanced signaling.

Journal Of Immunology (Baltimore, Md. : 1950)

Peters, Anna L AL; Bishop, Gail A GA

Publication Date: 2010-12-01

Variant appearance in text: CD40: P227A

PubMed Link: 21041727

Variant Present in the following documents:

• Main text

View BVdb publication page

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CD40 and autoimmunity: the dark side of a great activator.

Seminars In Immunology

Peters, Anna L AL; Stunz, Laura L LL; Bishop, Gail A GA

Publication Date: 2009-10

Variant appearance in text: CD40: P227A; rs11086998

PubMed Link: 19595612

Variant Present in the following documents:

• Main text

View BVdb publication page

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A novel polymorphism of the human CD40 receptor with enhanced function.

Blood

Peters, Anna L AL; Plenge, Robert M RM; Graham, Robert R RR; Altshuler, David M DM; Moser, Kathy L KL; Gaffney, Patrick M PM; Bishop, Gail A GA

Publication Date: 2008-09-01

Variant appearance in text: CD40: P227A; rs11086998

PubMed Link: 18591382

Variant Present in the following documents:

• Main text

View BVdb publication page

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