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