TNFSF13 c.287A>G ;(p.N96S)

Variant ID: 17-7462969-A-G

NM_003808.3(TNFSF13):c.287A>G;(p.N96S)

This variant was identified in 76 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: TNFSF12-TNFSF13: N176S
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.

Embo Molecular Medicine
El-Gazzar, Ahmed A; Voraberger, Barbara B; Rauch, Frank F; Mairhofer, Mario M; Schmidt, Katy K; Guillemyn, Brecht B; Mitulović, Goran G; Reiterer, Veronika V; Haun, Margot M; Mayr, Michaela M MM; Mayr, Johannes A JA; Kimeswenger, Susanne S; Drews, Oliver O; Saraff, Vrinda V; Shaw, Nick N; Fratzl-Zelman, Nadja N; Symoens, Sofie S; Farhan, Hesso H; Högler, Wolfgang W
Publication Date: 2023-03-14

Variant appearance in text: TNFSF12-TNFSF13: 527A>G; Asn176Ser
PubMed Link: 36916446
Variant Present in the following documents:
  • EMMM-15-e16834-s012.xlsx, sheet 1
View BVdb publication page



Genetic trajectory and clonal evolution of multiple primary lung cancer with lymph node metastasis.

Cancer Gene Therapy
Tian, He H; Wang, Yalong Y; Yang, Zhenlin Z; Chen, Ping P; Xu, Jiachen J; Tian, Yanhua Y; Fan, Tao T; Xiao, Chu C; Bai, Guangyu G; Li, Lin L; Zheng, Bo B; Li, Chunxiang C; He, Jie J
Publication Date: 2023-01-19

Variant appearance in text: TNFSF13: N96S
PubMed Link: 36653483
Variant Present in the following documents:
  • 41417_2022_572_MOESM9_ESM.xlsx, sheet 11
  • 41417_2022_572_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications
Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S
Publication Date: 2022-11

Variant appearance in text: TNFSF13: N96S; rs3803800
PubMed Link: 36643868
Variant Present in the following documents:
  • crc-22-0245-s07.xlsx, sheet 1
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: TNFSF13: N96S; rs3803800
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Genetic regulation of serum IgA levels and susceptibility to common immune, infectious, kidney, and cardio-metabolic traits.

Nature Communications
Liu, Lili L; Khan, Atlas A; Sanchez-Rodriguez, Elena E; Zanoni, Francesca F; Li, Yifu Y; Steers, Nicholas N; Balderes, Olivia O; Zhang, Junying J; Krithivasan, Priya P; LeDesma, Robert A RA; Fischman, Clara C; Hebbring, Scott J SJ; Harley, John B JB; Moncrieffe, Halima H; Kottyan, Leah C LC; Namjou-Khales, Bahram B; Walunas, Theresa L TL; Knevel, Rachel R; Raychaudhuri, Soumya S; Karlson, Elizabeth W EW; Denny, Joshua C JC; Stanaway, Ian B IB; Crosslin, David D; Rauen, Thomas T; Floege, Jürgen J; Eitner, Frank F; Moldoveanu, Zina Z; Reily, Colin C; Knoppova, Barbora B; Hall, Stacy S; Sheff, Justin T JT; Julian, Bruce A BA; Wyatt, Robert J RJ; Suzuki, Hitoshi H; Xie, Jingyuan J; Chen, Nan N; Zhou, Xujie X; Zhang, Hong H; Hammarström, Lennart L; Viktorin, Alexander A; Magnusson, Patrik K E PKE; Shang, Ning N; Hripcsak, George G; Weng, Chunhua C; Rundek, Tatjana T; Elkind, Mitchell S V MSV; Oelsner, Elizabeth C EC; Barr, R Graham RG; Ionita-Laza, Iuliana I; Novak, Jan J; Gharavi, Ali G AG; Kiryluk, Krzysztof K
Publication Date: 2022-11-11

Variant appearance in text: rs3803800
PubMed Link: 36369178
Variant Present in the following documents:
  • Main text
  • 41467_2022_Article_34456.pdf
View BVdb publication page



Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C
Publication Date: 2022-10-21

Variant appearance in text: TNFSF12-TNFSF13: 527A>G; Asn176Ser; rs3803800
PubMed Link: 36269797
Variant Present in the following documents:
  • ccr-22-2060_supplementary_table_s5_suppts5.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: rs3803800
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs3803800
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Genomic crossroads between non-Hodgkin's lymphoma and common variable immunodeficiency.

Frontiers In Immunology
Guevara-Hoyer, Kissy K; Fuentes-Antrás, Jesús J; de la Fuente-Muñoz, Eduardo E; Fernández-Arquero, Miguel M; Solano, Fernando F; Pérez-Segura, Pedro P; Neves, Esmeralda E; Ocaña, Alberto A; Pérez de Diego, Rebeca R; Sánchez-Ramón, Silvia S
Publication Date: 2022

Variant appearance in text: TNFSF13: Asn96Ser
PubMed Link: 35990641
Variant Present in the following documents:
  • DataSheet_2.xlsx, sheet 1
View BVdb publication page



Protein and functional isoform levels and genetic variants of the BAFF and APRIL pathway components in systemic lupus erythematosus.

Scientific Reports
Ortiz-Aljaro, Pilar P; Montes-Cano, Marco Antonio MA; García-Lozano, José-Raúl JR; Aquino, Virginia V; Carmona, Rosario R; Perez-Florido, Javier J; García-Hernández, Francisco José FJ; Dopazo, Joaquín J; González-Escribano, María Francisca MF
Publication Date: 2022-07-02

Variant appearance in text: TNFSF13: Asn96Ser; rs3803800
PubMed Link: 35780200
Variant Present in the following documents:
  • Main text
  • 41598_2022_Article_15549.pdf
View BVdb publication page



Neoadjuvant PD-1 Blockade Combined With Chemotherapy Followed by Concurrent Immunoradiotherapy in Locally Advanced Anal Canal Squamous Cell Carcinoma Patients: Antitumor Efficacy, Safety and Biomarker Analysis.

Frontiers In Immunology
Xiao, WeiWei W; Yuan, Yan Y; Wang, SuiHai S; Liao, Zhidong Z; Cai, PeiQiang P; Chen, BaoQing B; Zhang, Rong R; Wang, Fang F; Zeng, ZhiFan Z; Gao, YuanHong Y
Publication Date: 2021

Variant appearance in text: TNFSF12-TNFSF13: N176S
PubMed Link: 35095878
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.

Iscience
Bateman, Nicholas W NW; Tarney, Christopher M CM; Abulez, Tamara S TS; Hood, Brian L BL; Conrads, Kelly A KA; Zhou, Ming M; Soltis, Anthony R AR; Teng, Pang-Ning PN; Jackson, Amanda A; Tian, Chunqiao C; Dalgard, Clifton L CL; Wilkerson, Matthew D MD; Kessler, Michael D MD; Goecker, Zachary Z; Loffredo, Jeremy J; Shriver, Craig D CD; Hu, Hai H; Cote, Michele M; Parker, Glendon J GJ; Segars, James J; Al-Hendy, Ayman A; Risinger, John I JI; Phippen, Neil T NT; Casablanca, Yovanni Y; Darcy, Kathleen M KM; Maxwell, G Larry GL; Conrads, Thomas P TP; O'Connor, Timothy D TD
Publication Date: 2022-01-21

Variant appearance in text: rs3803800
PubMed Link: 35036865
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



Epione application: An integrated web‑toolkit of clinical genomics and personalized medicine in systemic lupus erythematosus.

International Journal Of Molecular Medicine
Papageorgiou, Louis L; Alkenaris, Haris H; Zervou, Maria I MI; Vlachakis, Dimitriοs D; Matalliotakis, Ioannis I; Spandidos, Demetrios A DA; Bertsias, George G; Goulielmos, George N GN; Eliopoulos, Elias E
Publication Date: 2022-01

Variant appearance in text: rs3803800
PubMed Link: 34791504
Variant Present in the following documents:
  • Main text
  • ijmm-49-01-05063.pdf
View BVdb publication page



Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021-10-19

Variant appearance in text: TNFSF13: N96S; rs3803800
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 11
  • mmc2.xlsx, sheet 3
View BVdb publication page



Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021

Variant appearance in text: TNFSF13: N96S; rs3803800
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 3
  • mmc2.xlsx, sheet 11
View BVdb publication page



Association of Immune and Inflammatory Gene Polymorphism With the Risk of IgA Nephropathy: A Systematic Review and Meta-Analysis of 45 Studies.

Frontiers In Immunology
Ding, Xiaonan X; Mei, Yan Y; Mao, Zhi Z; Long, Lingling L; Han, Qiuxia Q; You, Yanqin Y; Zhu, Hanyu H
Publication Date: 2021

Variant appearance in text: rs3803800
PubMed Link: 34354705
Variant Present in the following documents:
  • Main text
  • fimmu-12-683913.pdf
View BVdb publication page



Alcohol Consumption Is Associated with Poor Prognosis in Obese Patients with COVID-19: A Mendelian Randomization Study Using UK Biobank.

Nutrients
Fan, Xiude X; Liu, Zhengwen Z; Poulsen, Kyle L KL; Wu, Xiaoqin X; Miyata, Tatsunori T; Dasarathy, Srinivasan S; Rotroff, Daniel M DM; Nagy, Laura E LE
Publication Date: 2021-05-10

Variant appearance in text: rs3803800
PubMed Link: 34068824
Variant Present in the following documents:
  • Main text
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: TNFSF13: 287A>G; N96S; rs3803800
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: TNFSF12-TNFSF13: N176S; rs3803800
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021

Variant appearance in text: TNFSF13: 287A>G; N96S; rs3803800
PubMed Link: 33770142
Variant Present in the following documents:
  • pone.0249324.s003.xlsx, sheet 1
  • pone.0249324.s003.xlsx, sheet 2
  • pone.0249324.s003.xlsx, sheet 3
View BVdb publication page



Advanced bioinformatic analysis and pathway prediction of NSCLC cells upon cisplatin resistance.

Scientific Reports
Hossian, A K M Nawshad AKMN; Zahra, Fatema Tuz FT; Poudel, Sagun S; Abshire, Camille F CF; Polk, Paula P; Garai, Jone J; Zabaleta, Jovanny J; Mikelis, Constantinos M CM; Mattheolabakis, George G
Publication Date: 2021-03-22

Variant appearance in text: TNFSF13: 287A>G; Asn96Ser
PubMed Link: 33753779
Variant Present in the following documents:
  • 41598_2021_85930_MOESM7_ESM.xlsx, sheet 1
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: TNFSF12-TNFSF13: 527A>G; N176S; rs3803800
PubMed Link: 33420045
Variant Present in the following documents:
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
View BVdb publication page



IgA Nephropathy Genetic Risk Score to Estimate the Prevalence of IgA Nephropathy in UK Biobank.

Kidney International Reports
Sukcharoen, Kittiya K; Sharp, Seth A SA; Thomas, Nicholas J NJ; Kimmitt, Robert A RA; Harrison, Jamie J; Bingham, Coralie C; Mozere, Monika M; Weedon, Michael N MN; Tyrrell, Jessica J; Barratt, Jonathan J; Gale, Daniel P DP; Oram, Richard A RA
Publication Date: 2020-10

Variant appearance in text: rs3803800
PubMed Link: 33102956
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Association of Common Variants of TNFSF13 and TNFRSF13B Genes with CLL Risk and Clinical Picture, as Well as Expression of Their Products-APRIL and TACI Molecules.

Cancers
Jasek, Monika M; Bojarska-Junak, Agnieszka A; Sobczyński, Maciej M; Wagner, Marta M; Chocholska, Sylwia S; Roliński, Jacek J; Wołowiec, Dariusz D; Karabon, Lidia L
Publication Date: 2020-10-06

Variant appearance in text: TNFSF13: Asn96Ser; rs3803800
PubMed Link: 33036273
Variant Present in the following documents:
  • Main text
  • cancers-12-02873-s001.pdf
  • cancers-12-02873.pdf
View BVdb publication page



Variants of genes encoding TNF receptors and ligands and proteins regulating TNF activation in familial multiple sclerosis.

Cns Neuroscience & Therapeutics
Torre-Fuentes, Laura L; Matías-Guiu, Jordi A JA; Pytel, Vanesa V; Montero-Escribano, Paloma P; Maietta, Paolo P; Álvarez, Sara S; Gómez-Pinedo, Ulises U; Matías-Guiu, Jorge J
Publication Date: 2020-11

Variant appearance in text: TNFSF13: 287A>G; rs3803800
PubMed Link: 32951330
Variant Present in the following documents:
  • CNS-26-1178-s002.xlsx, sheet 1
View BVdb publication page



Genome-wide pathogenesis interpretation using a heat diffusion-based systems genetics method and implications for gene function annotation.

Molecular Genetics & Genomic Medicine
Quan, Yuan Y; Zhang, Qing-Ye QY; Lv, Bo-Min BM; Xu, Rui-Feng RF; Zhang, Hong-Yu HY
Publication Date: 2020-10

Variant appearance in text: rs3803800
PubMed Link: 32869547
Variant Present in the following documents:
  • MGG3-8-e1456-s001.xlsx, sheet 14
View BVdb publication page



Abstracts for the 32nd European Immunogenetics and Histocompatibility Conference and the 25th Annual Meeting of the Italian Society for Immunogenetics and Transplantation Biology (AIBT) Venice Lido, Italy May 9-12, 2018.

Hla
Publication Date: 2018-05

Variant appearance in text: rs3803800
PubMed Link: 32745368
Variant Present in the following documents:
  • Main text
  • TAN-91-354.pdf
View BVdb publication page



XAF1 as a modifier of p53 function and cancer susceptibility.

Science Advances
Pinto, Emilia M EM; Figueiredo, Bonald C BC; Chen, Wenan W; Galvao, Henrique C R HCR; Formiga, Maria Nirvana MN; Fragoso, Maria Candida B V MCBV; Ashton-Prolla, Patricia P; Ribeiro, Enilze M S F EMSF; Felix, Gabriela G; Costa, Tatiana E B TEB; Savage, Sharon A SA; Yeager, Meredith M; Palmero, Edenir I EI; Volc, Sahlua S; Salvador, Hector H; Fuster-Soler, Jose Luis JL; Lavarino, Cinzia C; Chantada, Guillermo G; Vaur, Dominique D; Odone-Filho, Vicente V; Brugières, Laurence L; Else, Tobias T; Stoffel, Elena M EM; Maxwell, Kara N KN; Achatz, Maria Isabel MI; Kowalski, Luis L; de Andrade, Kelvin C KC; Pappo, Alberto A; Letouze, Eric E; Latronico, Ana Claudia AC; Mendonca, Berenice B BB; Almeida, Madson Q MQ; Brondani, Vania B VB; Bittar, Camila M CM; Soares, Emerson W S EWS; Mathias, Carolina C; Ramos, Cintia R N CRN; Machado, Moara M; Zhou, Weiyin W; Jones, Kristine K; Vogt, Aurelie A; Klincha, Payal P PP; Santiago, Karina M KM; Komechen, Heloisa H; Paraizo, Mariana M MM; Parise, Ivy Z S IZS; Hamilton, Kayla V KV; Wang, Jinling J; Rampersaud, Evadnie E; Clay, Michael R MR; Murphy, Andrew J AJ; Lalli, Enzo E; Nichols, Kim E KE; Ribeiro, Raul C RC; Rodriguez-Galindo, Carlos C; Korbonits, Marta M; Zhang, Jinghui J; Thomas, Mark G MG; Connelly, Jon P JP; Pruett-Miller, Shondra S; Diekmann, Yoan Y; Neale, Geoffrey G; Wu, Gang G; Zambetti, Gerard P GP
Publication Date: 2020-06

Variant appearance in text: TNFSF13: N96S; rs3803800
PubMed Link: 32637605
Variant Present in the following documents:
  • aba3231_Table_S1.xlsx, sheet 1
View BVdb publication page



Alcohol Consumption and Cardiovascular Disease: A Mendelian Randomization Study.

Circulation. Genomic And Precision Medicine
Larsson, Susanna C SC; Burgess, Stephen S; Mason, Amy M AM; Michaëlsson, Karl K
Publication Date: 2020-06

Variant appearance in text: rs3803800
PubMed Link: 32367730
Variant Present in the following documents:
  • hcg-13-e002814-s001.pdf
View BVdb publication page



Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Publication Date: 2020-04-20

Variant appearance in text: rs3803800
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.

Nature Communications
Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T
Publication Date: 2020-01-03

Variant appearance in text: TNFSF12-TNFSF13: N176S
PubMed Link: 31900393
Variant Present in the following documents:
  • 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



The role of myoglobin in epithelial cancers: Insights from transcriptomics.

International Journal Of Molecular Medicine
Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T
Publication Date: 2020-02

Variant appearance in text: TNFSF12-TNFSF13: Asn176Ser
PubMed Link: 31894249
Variant Present in the following documents:
  • Supplementary_Data2.xlsx, sheet 9
  • Supplementary_Data2.xlsx, sheet 5
  • Supplementary_Data2.xlsx, sheet 7
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: TNFSF12-TNFSF13: N176S; rs3803800
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM10_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Genome-wide association study identifies new susceptible loci of IgA nephropathy in Koreans.

Bmc Medical Genomics
Jeong, Kyung Hwan KH; Kim, Jin Sug JS; Lee, Yu Ho YH; Kim, Yang Gyun YG; Moon, Ju-Young JY; Kim, Su Kang SK; Kang, Sun Woo SW; Kim, Tae Hee TH; Lee, Sang Ho SH; Kim, Yeong Hoon YH; ,
Publication Date: 2019-08-19

Variant appearance in text: rs3803800
PubMed Link: 31426789
Variant Present in the following documents:
  • Main text
  • 12920_2019_Article_568.pdf
View BVdb publication page



[Trans-ethnic analysis of susceptibility variants in IgA nephropathy].

Beijing Da Xue Xue Bao. Yi Xue Ban = Journal Of Peking University. Health Sciences
Kang, Y Q YQ; Zhang, Y M YM; Hou, P P; Shi, S F SF; Liu, L J LJ; Zhou, X J XJ; Lv, J C JC; Zhang, H H
Publication Date: 2019-06-18

Variant appearance in text: rs3803800
PubMed Link: 31209417
Variant Present in the following documents:
  • Main text
View BVdb publication page



A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20

Variant appearance in text: TNFSF13: N96S; rs3803800
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs3803800
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
View BVdb publication page



Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use.

Nature Genetics
Liu, Mengzhen M; Jiang, Yu Y; Wedow, Robbee R; Li, Yue Y; Brazel, David M DM; Chen, Fang F; Datta, Gargi G; Davila-Velderrain, Jose J; McGuire, Daniel D; Tian, Chao C; Zhan, Xiaowei X; , ; , ; Choquet, Hélène H; Docherty, Anna R AR; Faul, Jessica D JD; Foerster, Johanna R JR; Fritsche, Lars G LG; Gabrielsen, Maiken Elvestad ME; Gordon, Scott D SD; Haessler, Jeffrey J; Hottenga, Jouke-Jan JJ; Huang, Hongyan H; Jang, Seon-Kyeong SK; Jansen, Philip R PR; Ling, Yueh Y; Mägi, Reedik R; Matoba, Nana N; McMahon, George G; Mulas, Antonella A; Orrù, Valeria V; Palviainen, Teemu T; Pandit, Anita A; Reginsson, Gunnar W GW; Skogholt, Anne Heidi AH; Smith, Jennifer A JA; Taylor, Amy E AE; Turman, Constance C; Willemsen, Gonneke G; Young, Hannah H; Young, Kendra A KA; Zajac, Gregory J M GJM; Zhao, Wei W; Zhou, Wei W; Bjornsdottir, Gyda G; Boardman, Jason D JD; Boehnke, Michael M; Boomsma, Dorret I DI; Chen, Chu C; Cucca, Francesco F; Davies, Gareth E GE; Eaton, Charles B CB; Ehringer, Marissa A MA; Esko, Tõnu T; Fiorillo, Edoardo E; Gillespie, Nathan A NA; Gudbjartsson, Daniel F DF; Haller, Toomas T; Harris, Kathleen Mullan KM; Heath, Andrew C AC; Hewitt, John K JK; Hickie, Ian B IB; Hokanson, John E JE; Hopfer, Christian J CJ; Hunter, David J DJ; Iacono, William G WG; Johnson, Eric O EO; Kamatani, Yoichiro Y; Kardia, Sharon L R SLR; Keller, Matthew C MC; Kellis, Manolis M; Kooperberg, Charles C; Kraft, Peter P; Krauter, Kenneth S KS; Laakso, Markku M; Lind, Penelope A PA; Loukola, Anu A; Lutz, Sharon M SM; Madden, Pamela A F PAF; Martin, Nicholas G NG; McGue, Matt M; McQueen, Matthew B MB; Medland, Sarah E SE; Metspalu, Andres A; Mohlke, Karen L KL; Nielsen, Jonas B JB; Okada, Yukinori Y; Peters, Ulrike U; Polderman, Tinca J C TJC; Posthuma, Danielle D; Reiner, Alexander P AP; Rice, John P JP; Rimm, Eric E; Rose, Richard J RJ; Runarsdottir, Valgerdur V; Stallings, Michael C MC; Stančáková, Alena A; Stefansson, Hreinn H; Thai, Khanh K KK; Tindle, Hilary A HA; Tyrfingsson, Thorarinn T; Wall, Tamara L TL; Weir, David R DR; Weisner, Constance C; Whitfield, John B JB; Winsvold, Bendik Slagsvold BS; Yin, Jie J; Zuccolo, Luisa L; Bierut, Laura J LJ; Hveem, Kristian K; Lee, James J JJ; Munafò, Marcus R MR; Saccone, Nancy L NL; Willer, Cristen J CJ; Cornelis, Marilyn C MC; David, Sean P SP; Hinds, David A DA; Jorgenson, Eric E; Kaprio, Jaakko J; Stitzel, Jerry A JA; Stefansson, Kari K; Thorgeirsson, Thorgeir E TE; Abecasis, Gonçalo G; Liu, Dajiang J DJ; Vrieze, Scott S
Publication Date: 2019-02

Variant appearance in text: rs3803800
PubMed Link: 30643251
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular insights into genome-wide association studies of chronic kidney disease-defining traits.

Nature Communications
Xu, Xiaoguang X; Eales, James M JM; Akbarov, Artur A; Guo, Hui H; Becker, Lorenz L; Talavera, David D; Ashraf, Fehzan F; Nawaz, Jabran J; Pramanik, Sanjeev S; Bowes, John J; Jiang, Xiao X; Dormer, John J; Denniff, Matthew M; Antczak, Andrzej A; Szulinska, Monika M; Wise, Ingrid I; Prestes, Priscilla R PR; Glyda, Maciej M; Bogdanski, Pawel P; Zukowska-Szczechowska, Ewa E; Berzuini, Carlo C; Woolf, Adrian S AS; Samani, Nilesh J NJ; Charchar, Fadi J FJ; Tomaszewski, Maciej M
Publication Date: 2018-11-22

Variant appearance in text: rs3803800
PubMed Link: 30467309
Variant Present in the following documents:
  • 41467_2018_Article_7260.pdf
View BVdb publication page



X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports
Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN
Publication Date: 2018-11-02

Variant appearance in text: TNFSF12-TNFSF13: N176S; rs3803800
PubMed Link: 30389958
Variant Present in the following documents:
  • 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2
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: rs3803800
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
View BVdb publication page



IgA Nephropathy Susceptibility Loci and Disease Progression.

Clinical Journal Of The American Society Of Nephrology : Cjasn
Shi, Manman M; Ouyang, Yan Y; Yang, Mingxin M; Yang, Meng M; Zhang, Xiaoyan X; Huang, Wei W; Wang, Weiming W; Wang, Zhaohui Z; Zhang, Wen W; Chen, Xiaonong X; Pan, Xiaoxia X; Ren, Hong H; Chen, Nan N; Xie, Jingyuan J
Publication Date: 2018-09-07

Variant appearance in text: rs3803800
PubMed Link: 30042224
Variant Present in the following documents:
  • Main text
View BVdb publication page



Associations between TNFSF4, TNFSF8 and TNFSF15 and Behçet's disease but not VKH syndrome in Han Chinese.

Oncotarget
Jiang, Yan Y; Cheng, Ling L; Li, Xin X; Zhou, Wenke W; Zhang, Li L
Publication Date: 2017-12-01

Variant appearance in text: rs3803800
PubMed Link: 29285231
Variant Present in the following documents:
  • Main text
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: TNFSF13: N96S; rs3803800
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 4
View BVdb publication page



What Genetics Tells Us About the Pathogenesis of IgA Nephropathy: The Role of Immune Factors and Infection.

Kidney International Reports
Zhang, Yue-Miao YM; Zhou, Xu-Jie XJ; Zhang, Hong H
Publication Date: 2017-05

Variant appearance in text: rs3803800
PubMed Link: 29142962
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association between MPHOSPH6 gene polymorphisms and IgA nephropathy risk in a Chinese Han population.

Oncotarget
Yang, Xiaohong X; Zhang, Yin Y; Li, Wenning W; Su, Yan Y; Niu, Dan D; Wang, Yanni Y; Huang, Haiyang H; Han, Hui H; Zhang, Daofa D; Xie, Maowei M; Su, Huiluan H; Xu, Wentan W; Wei, Jiali J
Publication Date: 2017-09-22

Variant appearance in text: rs3803800
PubMed Link: 29069794
Variant Present in the following documents:
  • Main text
  • oncotarget-08-72375.pdf
View BVdb publication page