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
Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.
Npj Parkinson'S Disease
Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD
Publication Date: 2022-06-29
Variant appearance in text: NAPSA: A310T; rs11670727
Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.
Bmc Cancer
Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC
Publication Date: 2021-05-29
Variant appearance in text: NAPSA: 928G>A; Ala310Thr; rs11670727
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: NAPSA: A310T; rs11670727
Disease Variant Landscape of a Large Multiethnic Population of Moyamoya Patients by Exome Sequencing.
G3 (Bethesda, Md.)
Shoemaker, Lorelei D LD; Clark, Michael J MJ; Patwardhan, Anil A; Chandratillake, Gemma G; Garcia, Sarah S; Chen, Rong R; Morgan, Alexander A AA; Leng, Nan N; Kirk, Scott S; Chen, Richard R; Cook, Douglas J DJ; Snyder, Michael M; Steinberg, Gary K GK
Publication Date: 2015-11-03
Variant appearance in text: NAPSA: A310T; rs11670727
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
Publication Date: 2014
Variant appearance in text: NAPSA: A310T; rs11670727
Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models.
Neurogenetics
Leal, Alejandro A; Huehne, Kathrin K; Bauer, Finn F; Sticht, Heinrich H; Berger, Philipp P; Suter, Ueli U; Morera, Bernal B; Del Valle, Gerardo G; Lupski, James R JR; Ekici, Arif A; Pasutto, Francesca F; Endele, Sabine S; Barrantes, Ramiro R; Berghoff, Corinna C; Berghoff, Martin M; Neundörfer, Bernhard B; Heuss, Dieter D; Dorn, Thomas T; Young, Peter P; Santolin, Lisa L; Uhlmann, Thomas T; Meisterernst, Michael M; Sereda, Michael Werner MW; Sereda, Michael M; Stassart, Ruth Martha RM; Meyer zu Horste, Gerd G; Nave, Klaus-Armin KA; Reis, André A; Rautenstrauss, Bernd B