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: 1705G>C; Gly569Arg
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: NLRP3: 1705G>C; Gly569Arg
A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry.
Orphanet Journal Of Rare Diseases
Papa, Riccardo R; Doglio, Matteo M; Lachmann, Helen J HJ; Ozen, Seza S; Frenkel, Joost J; Simon, Anna A; Neven, Bénédicte B; Kuemmerle-Deschner, Jasmin J; Ozgodan, Huri H; Caorsi, Roberta R; Federici, Silvia S; Finetti, Martina M; Trachana, Maria M; Brunner, Jurgen J; Bezrodnik, Liliana L; Pinedo Gago, Mari Carmen MC; Maggio, Maria Cristina MC; Tsitsami, Elena E; Al Suwairi, Wafaa W; Espada, Graciela G; Shcherbina, Anna A; Aksu, Guzide G; Ruperto, Nicolino N; Martini, Alberto A; Ceccherini, Isabella I; Gattorno, Marco M; ,
Identification of Interleukin-1β-Producing Monocytes That Are Susceptible to Pyronecrotic Cell Death in Patients With Neonatal-Onset Multisystem Inflammatory Disease.
Arthritis & Rheumatology (Hoboken, N.J.)
Edwan, Jehad H JH; Goldbach-Mansky, Raphaela R; Colbert, Robert A RA
An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome.
Nature Genetics
Canna, Scott W SW; de Jesus, Adriana A AA; Gouni, Sushanth S; Brooks, Stephen R SR; Marrero, Bernadette B; Liu, Yin Y; DiMattia, Michael A MA; Zaal, Kristien J M KJ; Sanchez, Gina A Montealegre GA; Kim, Hanna H; Chapelle, Dawn D; Plass, Nicole N; Huang, Yan Y; Villarino, Alejandro V AV; Biancotto, Angelique A; Fleisher, Thomas A TA; Duncan, Joseph A JA; O'Shea, John J JJ; Benseler, Susanne S; Grom, Alexei A; Deng, Zuoming Z; Laxer, Ronald M RM; Goldbach-Mansky, Raphaela R
Canakinumab (ACZ885, a fully human IgG1 anti-IL-1β mAb) induces sustained remission in pediatric patients with cryopyrin-associated periodic syndrome (CAPS).
Arthritis Research & Therapy
Kuemmerle-Deschner, Jasmin B JB; Ramos, Eduardo E; Blank, Norbert N; Roesler, Joachim J; Felix, Sandra D SD; Jung, Thomas T; Stricker, Kirstin K; Chakraborty, Abhijit A; Tannenbaum, Stacey S; Wright, Andrew M AM; Rordorf, Christiane C
The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model.
Arthritis And Rheumatism
Aksentijevich, Ivona I; Putnam, Christopher D CD; Remmers, Elaine F EF; Mueller, James L JL; Le, Julie J; Kolodner, Richard D RD; Moak, Zachary Z; Chuang, Michael M; Austin, Frances F; Goldbach-Mansky, Raphaela R; Hoffman, Hal M HM; Kastner, Daniel L DL
De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases.
Arthritis And Rheumatism
Aksentijevich, Ivona I; Nowak, Miroslawa M; Mallah, Mustapha M; Chae, Jae Jin JJ; Watford, Wendy T WT; Hofmann, Sigrun R SR; Stein, Leonard L; Russo, Ricardo R; Goldsmith, Donald D; Dent, Peter P; Rosenberg, Helene F HF; Austin, Frances F; Remmers, Elaine F EF; Balow, James E JE; Rosenzweig, Sergio S; Komarow, Hirsh H; Shoham, Nitza G NG; Wood, Geryl G; Jones, Janet J; Mangra, Nadira N; Carrero, Hector H; Adams, Barbara S BS; Moore, Terry L TL; Schikler, Kenneth K; Hoffman, Hal H; Lovell, Daniel J DJ; Lipnick, Robert R; Barron, Karyl K; O'Shea, John J JJ; Kastner, Daniel L DL; Goldbach-Mansky, Raphaela R
New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes.
American Journal Of Human Genetics
Dodé, Catherine C; Le Dû, Nathalie N; Cuisset, Laurence L; Letourneur, Frank F; Berthelot, Jean-Marie JM; Vaudour, Gérard G; Meyrier, Alain A; Watts, Richard A RA; Scott, David G I DG; Nicholls, Anne A; Granel, Brigitte B; Frances, Camille C; Garcier, François F; Edery, Patrick P; Boulinguez, Serge S; Domergues, Jean-Paul JP; Delpech, Marc M; Grateau, Gilles G