Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.
Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22
Variant appearance in text: NLRP3: 2107C>A; Gln703Lys
INFLAMMASOME GENES POLYMORPHISMS ARE ASSOCIATED WITH PROGRESSION TO MECHANICAL VENTILATION AND DEATH IN A COHORT OF HOSPITALIZED COVID-19 PATIENTS IN A REFERENCE HOSPITAL IN RIO DE JANEIRO, BRAZIL.
Gene
Neira-Goulart, Milena M; Beatriz Ramos de Sá, Nathalia N; Ribeiro-Alves, Marcelo M; Perazzo, Hugo H; Mattos Geraldo, Kim K; Pia Diniz Ribeiro, Maria M; Wagner Cardoso, Sandra S; Grinsztejn, Beatriz B; Veloso, Valdiléa G VG; Rodrigues Gomes, Larissa L; da Silva Cazote, Andressa A; Victalina de Almeida, Dalziza D; Beatriz Wagner Giacoia-Gripp, Carmem C; Heloise Côrtes, Fernanda F; Gonçalves Morgado, Mariza M
Autoinflammation in Syndromic Hidradenitis Suppurativa: The Role of AIM2.
Vaccines
Moltrasio, Chiara C; Cagliani, Rachele R; Sironi, Manuela M; Clerici, Mario M; Pontremoli, Chiara C; Maronese, Carlo Alberto CA; Tricarico, Paola Maura PM; Crovella, Sergio S; Marzano, Angelo Valerio AV
A susceptibility putative haplotype within NLRP3 inflammasome gene influences ischaemic stroke risk in the population of Punjab, India.
International Journal Of Immunogenetics
Kumar, Nitin N; Kaur, Manminder M; Singh, Gurjinderpal G; Valecha, Srishti S; Khinda, Rubanpal R; Di Napoli, Mario M; Singh, Monica M; Singh, Puneetpal P; Mastana, Sarabjit S
Genetic Polymorphisms, Gene-Gene Interactions and Neurologic Sequelae at Two Years Follow-Up in Newborns with Hypoxic-Ischemic Encephalopathy Treated with Hypothermia.
Antioxidants (Basel, Switzerland)
Esih, Katarina K; Goričar, Katja K; Soltirovska-Šalamon, Aneta A; Dolžan, Vita V; Rener-Primec, Zvonka Z
A gain-of-function NLRP3 3'-UTR polymorphism causes miR-146a-mediated suppression of NLRP3 expression and confers protection against sepsis progression.