TNFRSF1A c.362G>A ;(p.R121Q)

Variant ID: 12-6442643-C-T

NM_001065.3(TNFRSF1A):c.362G>A;(p.R121Q)

This variant was identified in 92 publications

View GRCh38 version.




Publications:


Whole exome/genome sequencing in cyclic vomiting syndrome reveals multiple candidate genes, suggesting a model of elevated intracellular cations and mitochondrial dysfunction.

Frontiers In Neurology
Bar, Omri O; Ebenau, Laurie L; Weiner, Kellee K; Mintz, Mark M; Boles, Richard G RG
Publication Date: 2023

Variant appearance in text: TNFRSF1A: Arg121Gln
PubMed Link: 37234784
Variant Present in the following documents:
  • Main text
  • fneur-14-1151835.pdf
View BVdb publication page



Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.

Cell Reports. Medicine
Álvarez-Prado, Ángel F ÁF; Maas, Roeltje R RR; Soukup, Klara K; Klemm, Florian F; Kornete, Mara M; Krebs, Fanny S FS; Zoete, Vincent V; Berezowska, Sabina S; Brouland, Jean-Philippe JP; Hottinger, Andreas F AF; Daniel, Roy T RT; Hegi, Monika E ME; Joyce, Johanna A JA
Publication Date: 2023-01-17

Variant appearance in text: TNFRSF1A: R121Q
PubMed Link: 36652909
Variant Present in the following documents:
  • mmc3.xlsx, sheet 32
View BVdb publication page



Macroglobulinemia and Autoinflammatory Disease.

Rheumatology And Immunology Research
Navetta-Modrov, Brianne B; Yao, Qingping Q
Publication Date: 2021-12

Variant appearance in text: TNFRSF1A: Arg121Gln
PubMed Link: 36467983
Variant Present in the following documents:
  • Main text
  • rir-02-227.pdf
View BVdb publication page



Juvenile Idiopathic Arthritis, Uveitis and Multiple Sclerosis: Description of Two Patients and Literature Review.

Biomedicines
Chighizola, Cecilia Beatrice CB; Ferrito, Matteo M; Marelli, Luca L; Pontikaki, Irene I; Nucci, Paolo P; Miserocchi, Elisabetta E; Caporali, Roberto R
Publication Date: 2022-08-21

Variant appearance in text: rs4149584
PubMed Link: 36009588
Variant Present in the following documents:
  • Main text
  • biomedicines-10-02041.pdf
View BVdb publication page



Variant in the PLCG2 Gene May Cause a Phenotypic Overlap of APLAID/PLAID: Case Series and Literature Review.

Journal Of Clinical Medicine
Welzel, Tatjana T; Oefelein, Lea L; Holzer, Ursula U; Müller, Amelie A; Menden, Benita B; Haack, Tobias B TB; Groβ, Miriam M; Kuemmerle-Deschner, Jasmin B JB
Publication Date: 2022-07-27

Variant appearance in text: TNFRSF1A: R121Q
PubMed Link: 35955991
Variant Present in the following documents:
  • jcm-11-04369.pdf
View BVdb publication page



TNFRSF1A Gene Polymorphism (-610 T > G, rs4149570) as a Predictor of Malnutrition and a Prognostic Factor in Patients Subjected to Intensity-Modulated Radiation Therapy Due to Head and Neck Cancer.

Cancers
Homa-Mlak, Iwona I; Mlak, Radosław R; Mazurek, Marcin M; Brzozowska, Anna A; Powrózek, Tomasz T; Rahnama-Hezavah, Mansur M; Małecka-Massalska, Teresa T
Publication Date: 2022-07-13

Variant appearance in text: rs4149584
PubMed Link: 35884467
Variant Present in the following documents:
  • Main text
  • cancers-14-03407.pdf
View BVdb publication page



Pericarditis and Autoinflammation: A Clinical and Genetic Analysis of Patients With Idiopathic Recurrent Pericarditis and Monogenic Autoinflammatory Diseases at a National Referral Center.

Journal Of The American Heart Association
Peet, Claire J CJ; Rowczenio, Dorota D; Omoyinmi, Ebun E; Papadopoulou, Charalampia C; Mapalo, Bella Ruth R BRR; Wood, Michael R MR; Capon, Francesca F; Lachmann, Helen J HJ
Publication Date: 2022-06-07

Variant appearance in text: TNFRSF1A: R121Q
PubMed Link: 35658515
Variant Present in the following documents:
  • Main text
  • JAH3-11-e024931.pdf
View BVdb publication page



Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience
Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD
Publication Date: 2022-02

Variant appearance in text: TNFRSF1A: R121Q; rs4149584
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
View BVdb publication page



Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis.

Journal Of Clinical Immunology
Kernan, Kate F KF; Ghaloul-Gonzalez, Lina L; Vockley, Jerry J; Lamb, Janette J; Hollingshead, Deborah D; Chandran, Uma U; Sethi, Rahil R; Park, Hyun-Jung HJ; Berg, Robert A RA; Wessel, David D; Pollack, Murray M MM; Meert, Kathleen L KL; Hall, Mark W MW; Newth, Christopher J L CJL; Lin, John C JC; Doctor, Allan A; Shanley, Tom T; Cornell, Tim T; Harrison, Rick E RE; Zuppa, Athena F AF; Banks, Russel R; Reeder, Ron W RW; Holubkov, Richard R; Notterman, Daniel A DA; Dean, J Michael JM; Carcillo, Joseph A JA
Publication Date: 2022-02

Variant appearance in text: TNFRSF1A: 362G>A; Arg121Gln
PubMed Link: 34973142
Variant Present in the following documents:
  • 10875_2021_1183_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Pharmacogenetics of Biological Agents Used in Inflammatory Bowel Disease: A Systematic Review.

Biomedicines
Lauro, Rita R; Mannino, Federica F; Irrera, Natasha N; Squadrito, Francesco F; Altavilla, Domenica D; Squadrito, Giovanni G; Pallio, Giovanni G; Bitto, Alessandra A
Publication Date: 2021-11-23

Variant appearance in text: rs4149584
PubMed Link: 34944563
Variant Present in the following documents:
  • Main text
  • biomedicines-09-01748.pdf
View BVdb publication page



Pharmacogenetics of Biological Agents Used in Inflammatory Bowel Disease: A Systematic Review.

Biomedicines
Lauro, Rita R; Mannino, Federica F; Irrera, Natasha N; Squadrito, Francesco F; Altavilla, Domenica D; Squadrito, Giovanni G; Pallio, Giovanni G; Bitto, Alessandra A
Publication Date: 2021-11-23

Variant appearance in text: rs4149584
PubMed Link: 34944563
Variant Present in the following documents:
  • Main text
  • biomedicines-09-01748.pdf
View BVdb publication page



Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes.

Journal, Genetic Engineering & Biotechnology
Jain, Abhinav A; Bhoyar, Rahul C RC; Pandhare, Kavita K; Mishra, Anushree A; Sharma, Disha D; Imran, Mohamed M; Senthivel, Vigneshwar V; Divakar, Mohit Kumar MK; Rophina, Mercy M; Jolly, Bani B; Batra, Arushi A; Sharma, Sumit S; Siwach, Sanjay S; Jadhao, Arun G AG; Palande, Nikhil V NV; Jha, Ganga Nath GN; Ashrafi, Nishat N; Mishra, Prashant Kumar PK; A K, Vidhya V; Jain, Suman S; Dash, Debasis D; Kumar, Nachimuthu Senthil NS; Vanlallawma, Andrew A; Sarma, Ranjan Jyoti RJ; Chhakchhuak, Lalchhandama L; Kalyanaraman, Shantaraman S; Mahadevan, Radha R; Kandasamy, Sunitha S; B M, Pabitha P; Rajagopal, Raskin Erusan RE; Ramya J, Ezhil E; Devi P, Nirmala N; Bajaj, Anjali A; Gupta, Vishu V; Mathew, Samatha S; Goswami, Sangam S; Mangla, Mohit M; Prakash, Savinitha S; Joshi, Kandarp K; Meyakumla, ; S, Sreedevi S; Gajjar, Devarshi D; Soraisham, Ronibala R; Yadav, Rohit R; Devi, Yumnam Silla YS; Gupta, Aayush A; Mukerji, Mitali M; Ramalingam, Sivaprakash S; B K, Binukumar B; Scaria, Vinod V; Sivasubbu, Sridhar S
Publication Date: 2021-12-14

Variant appearance in text: TNFRSF1A: R121Q; rs4149584
PubMed Link: 34905135
Variant Present in the following documents:
  • 43141_2021_268_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes.

Journal, Genetic Engineering & Biotechnology
Jain, Abhinav A; Bhoyar, Rahul C RC; Pandhare, Kavita K; Mishra, Anushree A; Sharma, Disha D; Imran, Mohamed M; Senthivel, Vigneshwar V; Divakar, Mohit Kumar MK; Rophina, Mercy M; Jolly, Bani B; Batra, Arushi A; Sharma, Sumit S; Siwach, Sanjay S; Jadhao, Arun G AG; Palande, Nikhil V NV; Jha, Ganga Nath GN; Ashrafi, Nishat N; Mishra, Prashant Kumar PK; A K, Vidhya V; Jain, Suman S; Dash, Debasis D; Kumar, Nachimuthu Senthil NS; Vanlallawma, Andrew A; Sarma, Ranjan Jyoti RJ; Chhakchhuak, Lalchhandama L; Kalyanaraman, Shantaraman S; Mahadevan, Radha R; Kandasamy, Sunitha S; B M, Pabitha P; Rajagopal, Raskin Erusan RE; Ramya J, Ezhil E; Devi P, Nirmala N; Bajaj, Anjali A; Gupta, Vishu V; Mathew, Samatha S; Goswami, Sangam S; Mangla, Mohit M; Prakash, Savinitha S; Joshi, Kandarp K; Meyakumla, ; S, Sreedevi S; Gajjar, Devarshi D; Soraisham, Ronibala R; Yadav, Rohit R; Devi, Yumnam Silla YS; Gupta, Aayush A; Mukerji, Mitali M; Ramalingam, Sivaprakash S; B K, Binukumar B; Scaria, Vinod V; Sivasubbu, Sridhar S
Publication Date: 2021-12-14

Variant appearance in text: TNFRSF1A: R121Q; rs4149584
PubMed Link: 34905135
Variant Present in the following documents:
  • 43141_2021_268_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial.

Jama Pediatrics
, ; Krantz, Ian D ID; Medne, Livija L; Weatherly, Jamila M JM; Wild, K Taylor KT; Biswas, Sawona S; Devkota, Batsal B; Hartman, Tiffiney T; Brunelli, Luca L; Fishler, Kristen P KP; Abdul-Rahman, Omar O; Euteneuer, Joshua C JC; Hoover, Denise D; Dimmock, David D; Cleary, John J; Farnaes, Lauge L; Knight, Jason J; Schwarz, Adam J AJ; Vargas-Shiraishi, Ofelia M OM; Wigby, Kristin K; Zadeh, Neda N; Shinawi, Marwan M; Wambach, Jennifer A JA; Baldridge, Dustin D; Cole, F Sessions FS; Wegner, Daniel J DJ; Urraca, Nora N; Holtrop, Shannon S; Mostafavi, Roya R; Mroczkowski, Henry J HJ; Pivnick, Eniko K EK; Ward, Jewell C JC; Talati, Ajay A; Brown, Chester W CW; Belmont, John W JW; Ortega, Julia L JL; Robinson, Keisha D KD; Brocklehurst, W Tyler WT; Perry, Denise L DL; Ajay, Subramanian S SS; Hagelstrom, R Tanner RT; Bennett, Maren M; Rajan, Vani V; Taft, Ryan J RJ
Publication Date: 2021-12-01

Variant appearance in text: TNFRSF1A: 362G>A; Arg121Gln
PubMed Link: 34570182
Variant Present in the following documents:
  • jamapediatr-e213496-s003.xlsx, sheet 5
View BVdb publication page



Monogenic Autoinflammatory Diseases: State of the Art and Future Perspectives.

International Journal Of Molecular Sciences
Di Donato, Giulia G; d'Angelo, Debora Mariarita DM; Breda, Luciana L; Chiarelli, Francesco F
Publication Date: 2021-06-14

Variant appearance in text: TNFRSF1A: 362G>A
PubMed Link: 34198614
Variant Present in the following documents:
  • Main text
View BVdb publication page



Next Generation Sequencing Based Multiplex Long-Range PCR for Routine Genotyping of Autoinflammatory Disorders.

Frontiers In Immunology
Guzel, Ferhat F; Romano, Micol M; Keles, Erdi E; Piskin, David D; Ozen, Seza S; Poyrazoglu, Hakan H; Kasapcopur, Ozgur O; Demirkaya, Erkan E
Publication Date: 2021

Variant appearance in text: rs4149584
PubMed Link: 34177904
Variant Present in the following documents:
  • Main text
  • fimmu-12-666273.pdf
View BVdb publication page



Gene-Based Tests of a Genome-Wide Association Study Dataset Highlight Novel Multiple Sclerosis Risk Genes.

Frontiers In Neuroscience
Li, He H; Hou, Xiaodan X; Liang, Yan Y; Xu, Fang F; Zhang, Xiyue X; Cui, Pan P; Xing, Gebeili G; Wang, Xuejiao X; Jiang, Wei W
Publication Date: 2021

Variant appearance in text: rs4149584
PubMed Link: 34045940
Variant Present in the following documents:
  • Main text
View BVdb publication page



TNFR1-d2 carrying the p.(Thr79Met) pathogenic variant is a potential novel actor of TNFα/TNFR1 signalling regulation in the pathophysiology of TRAPS.

Scientific Reports
Rittore, Cécile C; Méchin, Déborah D; Sanchez, Elodie E; Marinèche, Léa L; Ea, Vuthy V; Soler, Stephan S; Vereecke, Marion M; Mallavialle, Aude A; Richard, Eric E; Duroux-Richard, Isabelle I; Apparailly, Florence F; Touitou, Isabelle I; Grandemange, Sylvie S
Publication Date: 2021-02-18

Variant appearance in text: TNFR1: Arg121Gln
PubMed Link: 33603056
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_83539.pdf
View BVdb publication page



Functional analysis of novel A20 variants in patients with atypical inflammatory diseases.

Arthritis Research & Therapy
Kadowaki, Saori S; Hashimoto, Kunio K; Nishimura, Toyoki T; Kashimada, Kenichi K; Kadowaki, Tomonori T; Kawamoto, Norio N; Imai, Kohsuke K; Okada, Satoshi S; Kanegane, Hirokazu H; Ohnishi, Hidenori H
Publication Date: 2021-02-06

Variant appearance in text: TNFRSF1A: Arg121Gln
PubMed Link: 33549127
Variant Present in the following documents:
  • Main text
View BVdb publication page



High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.

Ebiomedicine
Toulmonde, Maud M; Lucchesi, Carlo C; Verbeke, Stéphanie S; Crombe, Amandine A; Adam, Julien J; Geneste, Damien D; Chaire, Vanessa V; Laroche-Clary, Audrey A; Perret, Raul R; Bertucci, François F; Bertolo, Frederic F; Bianchini, Laurence L; Dadone-Montaudie, Bérengère B; Hembrough, Todd T; Sweet, Steve S; Kim, Yeoun Jin YJ; Cecchi, Fabiola F; Le Loarer, François F; Italiano, Antoine A
Publication Date: 2020-12

Variant appearance in text: TNFRSF1A: 362G>A; R121Q; rs4149584
PubMed Link: 33254023
Variant Present in the following documents:
  • mmc5.xlsx, sheet 1
View BVdb publication page



Re-Examining the Role of TNF in MS Pathogenesis and Therapy.

Cells
Fresegna, Diego D; Bullitta, Silvia S; Musella, Alessandra A; Rizzo, Francesca Romana FR; De Vito, Francesca F; Guadalupi, Livia L; Caioli, Silvia S; Balletta, Sara S; Sanna, Krizia K; Dolcetti, Ettore E; Vanni, Valentina V; Bruno, Antonio A; Buttari, Fabio F; Stampanoni Bassi, Mario M; Mandolesi, Georgia G; Centonze, Diego D; Gentile, Antonietta A
Publication Date: 2020-10-14

Variant appearance in text: rs4149584
PubMed Link: 33066433
Variant Present in the following documents:
  • Main text
  • cells-09-02290.pdf
View BVdb publication page



Clinical Features at Onset and Genetic Characterization of Pediatric and Adult Patients with TNF-α Receptor-Associated Periodic Syndrome (TRAPS): A Series of 80 Cases from the AIDA Network.

Mediators Of Inflammation
Gaggiano, Carla C; Vitale, Antonio A; Obici, Laura L; Merlini, Giampaolo G; Soriano, Alessandra A; Viapiana, Ombretta O; Cattalini, Marco M; Maggio, Maria Cristina MC; Lopalco, Giuseppe G; Montin, Davide D; Jaber, Masen Abdel MA; Dagna, Lorenzo L; Manna, Raffaele R; Insalaco, Antonella A; Piga, Matteo M; La Torre, Francesco F; Berlengiero, Virginia V; Gelardi, Viviana V; Ciarcia, Luisa L; Emmi, Giacomo G; Ruscitti, Piero P; Caso, Francesco F; Cimaz, Rolando R; Hernández-Rodríguez, José J; Parronchi, Paola P; Sicignano, Ludovico Luca LL; Verrecchia, Elena E; Iannone, Florenzo F; Sota, Jurgen J; Grosso, Salvatore S; Salvarani, Carlo C; Frediani, Bruno B; Giacomelli, Roberto R; Mencarelli, Maria Antonietta MA; Renieri, Alessandra A; Rigante, Donato D; Cantarini, Luca L
Publication Date: 2020

Variant appearance in text: TNFRSF1A: 362G>A; Arg121Gln
PubMed Link: 32831641
Variant Present in the following documents:
  • Main text
  • MI2020-8562485.pdf
View BVdb publication page



Revisiting TNF Receptor-Associated Periodic Syndrome (TRAPS): Current Perspectives.

International Journal Of Molecular Sciences
Cudrici, Cornelia C; Deuitch, Natalie N; Aksentijevich, Ivona I
Publication Date: 2020-05-05

Variant appearance in text: TNFR1: R121Q
PubMed Link: 32380704
Variant Present in the following documents:
  • Main text
View BVdb publication page



The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: TNFRSF1A: 362G>A; Arg121Gln; rs4149584
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Integrated Transcriptome Analyses and Experimental Verifications of Mesenchymal-Associated TNFRSF1A as a Diagnostic and Prognostic Biomarker in Gliomas.

Frontiers In Oncology
Yang, Biao B; Pan, Yuan-Bo YB; Ma, Yan-Bin YB; Chu, Sheng-Hua SH
Publication Date: 2020

Variant appearance in text: rs4149584
PubMed Link: 32257943
Variant Present in the following documents:
  • Main text
  • fonc-10-00250.pdf
View BVdb publication page



Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.

Mediators Of Inflammation
Gaggiano, Carla C; Rigante, Donato D; Vitale, Antonio A; Lucherini, Orso Maria OM; Fabbiani, Alessandra A; Capozio, Giovanna G; Marzo, Chiara C; Gelardi, Viviana V; Grosso, Salvatore S; Frediani, Bruno B; Renieri, Alessandra A; Cantarini, Luca L
Publication Date: 2019

Variant appearance in text: N/A
PubMed Link: 32082075
Variant Present in the following documents:
View BVdb publication page



TNFR2 limits proinflammatory astrocyte functions during EAE induced by pathogenic DR2b-restricted T cells.

Jci Insight
Raphael, Itay I; Gomez-Rivera, Francisco F; Raphael, Rebecca A RA; Robinson, Rachel R RR; Nalawade, Saisha S; Forsthuber, Thomas G TG
Publication Date: 2019-12-19

Variant appearance in text: rs4149584
PubMed Link: 31852844
Variant Present in the following documents:
  • Main text
View BVdb publication page



Current and future advances in genetic testing in systemic autoinflammatory diseases.

Rheumatology (Oxford, England)
Schnappauf, Oskar O; Aksentijevich, Ivona I
Publication Date: 2019-11-01

Variant appearance in text: TNFRSF1A: R121Q
PubMed Link: 31769854
Variant Present in the following documents:
  • Main text
View BVdb publication page



Positive Impact of Expert Reference Center Validation on Performance of Next-Generation Sequencing for Genetic Diagnosis of Autoinflammatory Diseases.

Journal Of Clinical Medicine
Boursier, Guilaine G; Rittore, Cécile C; Georgin-Lavialle, Sophie S; Belot, Alexandre A; Galeotti, Caroline C; Hachulla, Eric E; Hentgen, Véronique V; Rossi-Semerano, Linda L; Sarrabay, Guillaume G; Touitou, Isabelle I
Publication Date: 2019-10-18

Variant appearance in text: TNFRSF1A: Arg121Gln
PubMed Link: 31635385
Variant Present in the following documents:
  • Main text
View BVdb publication page



Osteoporosis in Systemic Autoinflammatory Diseases: A Case-Control Study.

Frontiers In Endocrinology
Bindoli, Sara S; Franceschet, Giulio G; Galozzi, Paola P; Zaninotto, Martina M; Camozzi, Valentina V; Sfriso, Paolo P
Publication Date: 2019

Variant appearance in text: rs4149584
PubMed Link: 31620089
Variant Present in the following documents:
  • Main text
  • fendo-10-00636.pdf
View BVdb publication page



Breakdown of multiple sclerosis genetics to identify an integrated disease network and potential variant mechanisms.

Physiological Genomics
Shepard, C Joy CJ; Cline, Sara G SG; Hinds, David D; Jahanbakhsh, Seyedehameneh S; Prokop, Jeremy W JW
Publication Date: 2019-11-01

Variant appearance in text: TNFRSF1A: R121Q
PubMed Link: 31482761
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional analysis of a novel G87V TNFRSF1A mutation in patients with TNF receptor-associated periodic syndrome.

Clinical And Experimental Immunology
Tsuji, S S; Matsuzaki, H H; Iseki, M M; Nagasu, A A; Hirano, H H; Ishihara, K K; Ueda, N N; Honda, Y Y; Horiuchi, T T; Nishikomori, R R; Morita, Y Y; Mukai, T T
Publication Date: 2019-12

Variant appearance in text: TNFRSF1A: 362G>A
PubMed Link: 31429073
Variant Present in the following documents:
  • Main text
View BVdb publication page



Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.

The Journal Of Molecular Diagnostics : Jmd
Crowgey, Erin L EL; Washburn, Michael C MC; Kolb, E Anders EA; Puffenberger, Erik G EG
Publication Date: 2019-07

Variant appearance in text: TNFRSF1A: 362G>A; Arg121Gln
PubMed Link: 31028937
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
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: TNFRSF1A: R121Q; rs4149584
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
View BVdb publication page



Genetic polymorphisms in tumour necrosis factor receptors (TNFRSF1A/1B) illustrate differential treatment response to TNFα inhibitors in patients with Crohn's disease.

Bmj Open Gastroenterology
Qasem, Ahmad A; Ramesh, Seela S; Naser, Saleh A SA
Publication Date: 2019

Variant appearance in text: rs4149584
PubMed Link: 30815272
Variant Present in the following documents:
  • Main text
  • bmjgast-2018-000246.pdf
View BVdb publication page



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: TNFRSF1A: 362G>A; rs4149584
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
View BVdb publication page



Behçet's disease and genetic interactions between HLA-B*51 and variants in genes of autoinflammatory syndromes.

Scientific Reports
Burillo-Sanz, Sergio S; Montes-Cano, Marco-Antonio MA; García-Lozano, José-Raúl JR; Olivas-Martínez, Israel I; Ortego-Centeno, Norberto N; García-Hernández, Francisco-José FJ; Espinosa, Gerard G; Graña-Gil, Genaro G; Sánchez-Bursón, Juan J; Juliá, María Rosa MR; Solans, Roser R; Blanco, Ricardo R; Barnosi-Marín, Ana-Celia AC; Gómez de la Torre, Ricardo R; Fanlo, Patricia P; Rodríguez-Carballeira, Mónica M; Rodríguez-Rodríguez, Luis L; Camps, Teresa T; Castañeda, Santos S; Alegre-Sancho, Juan-Jose JJ; Martín, Javier J; González-Escribano, María Francisca MF
Publication Date: 2019-02-26

Variant appearance in text: TNFRSF1A: Arg121Gln; rs4149584
PubMed Link: 30808881
Variant Present in the following documents:
  • Main text
View BVdb publication page



Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics.

Scientific Reports
John, Sumi Elsa SE; Antony, Dinu D; Eaaswarkhanth, Muthukrishnan M; Hebbar, Prashantha P; Channanath, Arshad Mohamed AM; Thomas, Daisy D; Devarajan, Sriraman S; Tuomilehto, Jaakko J; Al-Mulla, Fahd F; Alsmadi, Osama O; Thanaraj, Thangavel Alphonse TA
Publication Date: 2018-11-08

Variant appearance in text: TNFRSF1A: Arg121Gln; rs4149584
PubMed Link: 30409984
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel presentations of periodic fever syndromes: Discrepancies between genetic and clinical diagnoses.

European Journal Of Rheumatology
Hoang, Tiffany K TK; Albert, Daniel A DA
Publication Date: 2019-01

Variant appearance in text: TNFRSF1A: R121Q
PubMed Link: 30407166
Variant Present in the following documents:
  • Main text
View BVdb publication page



Late-onset TNF receptor-associated periodic syndrome presenting as recurrent urticarial rash and lymph nodes.

Bmj Case Reports
Yildiz, Halil H; Andreea, Stoian Ioana SI; Declaye, Diane D; Yombi, Jean Cyr JC
Publication Date: 2018-06-27

Variant appearance in text: TNFRSF1A: 362G>A
PubMed Link: 29950375
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics in TNF-TNFR pathway: A complex network causing spondyloarthritis and conditioning response to anti-TNFα therapy.

Plos One
Aita, Ada A; Basso, Daniela D; Ramonda, Roberta R; Moz, Stefania S; Lorenzin, Mariagrazia M; Navaglia, Filippo F; Zambon, Carlo-Federico CF; Padoan, Andrea A; Plebani, Mario M; Punzi, Leonardo L
Publication Date: 2018

Variant appearance in text: TNFRSF1A: 362G>A; rs4149584
PubMed Link: 29579081
Variant Present in the following documents:
  • Main text
  • pone.0194693.pdf
View BVdb publication page



Inflammation and Trajectory of Renal Function in Community-Dwelling Older Adults.

Journal Of The American Geriatrics Society
Salimi, Shabnam S; Shardell, Michelle D MD; Seliger, Stephen L SL; Bandinelli, Stefania S; Guralnik, Jack M JM; Ferrucci, Luigi L
Publication Date: 2018-04

Variant appearance in text: rs4149584
PubMed Link: 29360163
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutational profile of rare variants in inflammasome-related genes in Behçet disease: A Next Generation Sequencing approach.

Scientific Reports
Burillo-Sanz, Sergio S; Montes-Cano, Marco-Antonio MA; García-Lozano, José-Raúl JR; Ortiz-Fernández, Lourdes L; Ortego-Centeno, Norberto N; García-Hernández, Francisco-José FJ; Espinosa, Gerard G; Graña-Gil, Genaro G; Sánchez-Bursón, Juan J; Rosa Juliá, María M; Solans, Roser R; Blanco, Ricardo R; Barnosi-Marín, Ana-Celia AC; Gómez De la Torre, Ricardo R; Fanlo, Patricia P; Rodríguez-Carballeira, Mónica M; Rodríguez-Rodríguez, Luis L; Camps, Teresa T; Castañeda, Santos S; Alegre-Sancho, Juan-Jose JJ; Martín, Javier J; González-Escribano, María Francisca MF
Publication Date: 2017-08-16

Variant appearance in text: TNFRSF1A: Arg121Gln
PubMed Link: 28814775
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.

Plos One
Omoyinmi, Ebun E; Standing, Ariane A; Keylock, Annette A; Price-Kuehne, Fiona F; Melo Gomes, Sonia S; Rowczenio, Dorota D; Nanthapisal, Sira S; Cullup, Thomas T; Nyanhete, Rodney R; Ashton, Emma E; Murphy, Claire C; Clarke, Megan M; Ahlfors, Helena H; Jenkins, Lucy L; Gilmour, Kimberly K; Eleftheriou, Despina D; Lachmann, Helen J HJ; Hawkins, Philip N PN; Klein, Nigel N; Brogan, Paul A PA
Publication Date: 2017

Variant appearance in text: TNFRSF1A: R121Q
PubMed Link: 28750028
Variant Present in the following documents:
  • Main text
View BVdb publication page



Inflammation in the spotlight-clinical relevance of genetic variants affecting nuclear factor κB and tumor necrosis factor receptor 1.

Annals Of Translational Medicine
Ortega, Francisco J FJ; Fernández-Real, José M JM
Publication Date: 2017-05

Variant appearance in text: rs4149584
PubMed Link: 28603734
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: TNFRSF1A: 362G>A; Arg121Gln
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.

Frontiers In Immunology
Martorana, Davide D; Bonatti, Francesco F; Mozzoni, Paola P; Vaglio, Augusto A; Percesepe, Antonio A
Publication Date: 2017

Variant appearance in text: TNFRSF1A: Arg121Gln
PubMed Link: 28421071
Variant Present in the following documents:
  • Main text
View BVdb publication page



Disease Phenotype and Outcome Depending on the Age at Disease Onset in Patients Carrying the R92Q Low-Penetrance Variant in TNFRSF1A Gene.

Frontiers In Immunology
Ruiz-Ortiz, Estíbaliz E; Iglesias, Estíbaliz E; Soriano, Alessandra A; Buján-Rivas, Segundo S; Español-Rego, Marta M; Castellanos-Moreira, Raul R; Tomé, Adrià A; Yagüe, Jordi J; Antón, Jordi J; Hernández-Rodríguez, José J
Publication Date: 2017

Variant appearance in text: TNFRSF1A: Arg121Gln
PubMed Link: 28396659
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical dose effect and functional consequences of R92Q in two families presenting with a TRAPS/PFAPA-like phenotype.

Molecular Genetics & Genomic Medicine
Grandemange, Sylvie S; Cabasson, Sébastien S; Sarrabay, Guillaume G; Pène, Jérôme J; Rittore, Cécile C; Sanchez, Elodie E; Chastang, Marie-Caroline MC; Guyon, Gaël G; Pillet, Pascal P; Touitou, Isabelle I
Publication Date: 2017-03

Variant appearance in text: TNFRSF1A: 362G>A; rs4149584
PubMed Link: 28361096
Variant Present in the following documents:
  • Main text
View BVdb publication page



Inflammatory pathway genes associated with inter-individual variability in the trajectories of morning and evening fatigue in patients receiving chemotherapy.

Cytokine
Wright, Fay F; Hammer, Marilyn M; Paul, Steven M SM; Aouizerat, Bradley E BE; Kober, Kord M KM; Conley, Yvette P YP; Cooper, Bruce A BA; Dunn, Laura B LB; Levine, Jon D JD; DEramo Melkus, Gail G; Miaskowski, Christine C
Publication Date: 2017-03

Variant appearance in text: rs4149584
PubMed Link: 28110208
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive genetic testing for primary immunodeficiency disorders in a tertiary hospital: 10-year experience in Auckland, New Zealand.

Allergy, Asthma, And Clinical Immunology : Official Journal Of The Canadian Society Of Allergy And Clinical Immunology
Woon, See-Tarn ST; Ameratunga, Rohan R
Publication Date: 2016

Variant appearance in text: TNFRSF1A: 362G>A; R121Q
PubMed Link: 27980540
Variant Present in the following documents:
  • 13223_2016_Article_169.pdf
View BVdb publication page



Successful treatment of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) with tocilizumab: A case report.

European Journal Of Rheumatology
Akasbi, Nessrine N; Soyfoo, Muhammad S MS
Publication Date: 2015-03

Variant appearance in text: TNFRSF1A: Arg121Gln
PubMed Link: 27708919
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: TNFRSF1A: R121Q
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s4.xls, sheet 1
View BVdb publication page



Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene
Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D
Publication Date: 2017-01-05

Variant appearance in text: TNFRSF1A: R121Q; rs4149584
PubMed Link: 27270441
Variant Present in the following documents:
  • onc2016172x3.xls, sheet 3
View BVdb publication page



Clinical and Genetic Features of Korean Patients with Recurrent Fever and Multi-System Inflammation without Infectious or Autoimmune Evidence.

Journal Of Korean Medical Science
Yang, Ji Ae JA; Choi, Ji Yong JY; Kang, Eun Ha EH; Ha, You-Jung YJ; Lee, Yun Jong YJ; Song, Yeong Wook YW
Publication Date: 2016-02

Variant appearance in text: rs4149584
PubMed Link: 26839472
Variant Present in the following documents:
  • Main text
  • jkms-31-196.pdf
View BVdb publication page