Immunogenetics associated with severe coccidioidomycosis.
Jci Insight
Hsu, Amy P AP; Korzeniowska, Agnieszka A; Aguilar, Cynthia C CC; Gu, Jingwen J; Karlins, Eric E; Oler, Andrew J AJ; Chen, Gang G; Reynoso, Glennys V GV; Davis, Joie J; Chaput, Alexandria A; Peng, Tao T; Sun, Ling L; Lack, Justin B JB; Bays, Derek J DJ; Stewart, Ethan R ER; Waldman, Sarah E SE; Powell, Daniel A DA; Donovan, Fariba M FM; Desai, Jigar V JV; Pouladi, Nima N; Long Priel, Debra A DA; Yamanaka, Daisuke D; Rosenzweig, Sergio D SD; Niemela, Julie E JE; Stoddard, Jennifer J; Freeman, Alexandra F AF; Zerbe, Christa S CS; Kuhns, Douglas B DB; Lussier, Yves A YA; Olivier, Kenneth N KN; Boucher, Richard C RC; Hickman, Heather D HD; Frelinger, Jeffrey J; Fierer, Joshua J; Shubitz, Lisa F LF; Leto, Thomas L TL; Thompson Iii, George R GR; Galgiani, John N JN; Lionakis, Michail S MS; Holland, Steven M SM
Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.
Journal Of Hematology & Oncology
Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C
Publication Date: 2018-12-13
Variant appearance in text: DUOXA1: 638C>T; Thr213Met; rs149960164
TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.
Nature Communications
Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N
Publication Date: 2018-11-01
Variant appearance in text: DUOXA1: T213M; rs149960164
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK