Publications:

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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: Pro75Leu

PubMed Link: 37234784

Variant Present in the following documents:

• Main text
• fneur-14-1151835.pdf

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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: rs4149637

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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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: 224C>T; Pro75Leu

PubMed Link: 34973142

Variant Present in the following documents:

• Main text
• 10875_2021_1183_MOESM7_ESM.xlsx, sheet 1
• 10875_2021_Article_1183.pdf

View BVdb publication page

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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: 224C>T

PubMed Link: 34198614

Variant Present in the following documents:

• Main text
• ijms-22-06360.pdf

View BVdb publication page

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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: 224C>T; rs4149637

PubMed Link: 33603056

Variant Present in the following documents:

• Main text
• 41598_2021_Article_83539.pdf

View BVdb publication page

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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: 224C>T; Pro75Leu

PubMed Link: 32831641

Variant Present in the following documents:

• Main text
• MI2020-8562485.pdf

View BVdb publication page

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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: P75L

PubMed Link: 32380704

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 224C>T; Pro75Leu; rs4149637

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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The French paediatric cohort of Castleman disease: a retrospective report of 23 patients.

Orphanet Journal Of Rare Diseases

Borocco, Charlotte C; Ballot-Schmit, Claire C; Ackermann, Oanez O; Aladjidi, Nathalie N; Delaleu, Jeremie J; Giacobbi-Milet, Vannina V; Jannier, Sarah S; Jeziorski, Eric E; Maurier, François F; Perel, Yves Y; Piguet, Christophe C; Oksenhendler, Eric E; Koné-Paut, Isabelle I; Galeotti, Caroline C

Publication Date: 2020-04-17

Variant appearance in text: TNFRSF1A: P75L

PubMed Link: 32303241

Variant Present in the following documents:

• Main text
• 13023_2020_Article_1345.pdf

View BVdb publication page

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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: TNFRSF1A: 224C>T; rs4149637

PubMed Link: 32082075

Variant Present in the following documents:

• Main text
• MI2019-3293145.pdf

View BVdb publication page

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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: P75L

PubMed Link: 31769854

Variant Present in the following documents:

• Main text
• kez294.pdf

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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: TNFRSF1A: 224C>T; Pro75Leu

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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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: Pro75Leu

PubMed Link: 28814775

Variant Present in the following documents:

• Main text
• 41598_2017_Article_9164.pdf

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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: Pro75Leu

PubMed Link: 28421071

Variant Present in the following documents:

• Main text
• fimmu-08-00344.pdf

View BVdb publication page

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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: Pro75Leu

PubMed Link: 28396659

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs4149637

PubMed Link: 28110208

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: P75L

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s4.xls, sheet 1

View BVdb publication page

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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: rs4149637

PubMed Link: 26839472

Variant Present in the following documents:

• Main text
• jkms-31-196.pdf

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: rs4149637

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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: TNFRSF1A: P75L

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry.

Annals Of The Rheumatic Diseases

Lachmann, H J HJ; Papa, R R; Gerhold, K K; Obici, L L; Touitou, I I; Cantarini, L L; Frenkel, J J; Anton, J J; Kone-Paut, I I; Cattalini, M M; Bader-Meunier, B B; Insalaco, A A; Hentgen, V V; Merino, R R; Modesto, C C; Toplak, N N; Berendes, R R; Ozen, S S; Cimaz, R R; Jansson, A A; Brogan, P A PA; Hawkins, P N PN; Ruperto, N N; Martini, A A; Woo, P P; Gattorno, M M; ,

Publication Date: 2014-12

Variant appearance in text: TNFRSF1A: Pro75Leu

PubMed Link: 23965844

Variant Present in the following documents:

• Main text
• annrheumdis-2013-204184.pdf

View BVdb publication page

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Guidelines for the genetic diagnosis of hereditary recurrent fevers.

Annals Of The Rheumatic Diseases

Shinar, Y Y; Obici, L L; Aksentijevich, I I; Bennetts, B B; Austrup, F F; Ceccherini, I I; Costa, J M JM; De Leener, A A; Gattorno, M M; Kania, U U; Kone-Paut, I I; Lezer, S S; Livneh, A A; Moix, I I; Nishikomori, R R; Ozen, S S; Phylactou, L L; Risom, L L; Rowczenio, D D; Sarkisian, T T; van Gijn, M E ME; Witsch-Baumgartner, M M; Morris, M M; Hoffman, H M HM; Touitou, I I; ,

Publication Date: 2012-10

Variant appearance in text:

PubMed Link: 22661645

Variant Present in the following documents:

• Main text
• annrheumdis-2011-201271.pdf

View BVdb publication page

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An international external quality assessment for molecular diagnosis of hereditary recurrent fevers: a 3-year scheme demonstrates the need for improvement.

European Journal Of Human Genetics : Ejhg

Touitou, I I; Rittore, C C; Philibert, L L; Yagüe, J J; Shinar, Y Y; Aksentijevich, I I

Publication Date: 2009-07

Variant appearance in text: TNFRSF1A: P75L

PubMed Link: 19172992

Variant Present in the following documents:

• Main text

View BVdb publication page

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