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: PDIA2: 857C>T; Thr286Met; rs2685127
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021
Variant appearance in text: PDIA2: 857C>T; T286M; rs2685127
ATR-16 syndrome: mechanisms linking monosomy to phenotype.
Journal Of Medical Genetics
Babbs, Christian C; Brown, Jill J; Horsley, Sharon W SW; Slater, Joanne J; Maifoshie, Evie E; Kumar, Shiwangini S; Ooijevaar, Paul P; Kriek, Marjolein M; Dixon-McIver, Amanda A; Harteveld, Cornelis L CL; Traeger-Synodinos, Jan J; Wilkie, Andrew O M AOM; Higgs, Douglas R DR; Buckle, Veronica J VJ
Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.
Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09
Variant appearance in text: PDIA2: T286M; rs2685127
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: PDIA2: T286M; rs2685127
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: PDIA2: T286M; rs2685127
Haplotype association analysis of genes within the WNT signalling pathways in diabetic nephropathy.
Bmc Nephrology
Kavanagh, David H DH; Savage, David A DA; Patterson, Christopher C CC; McKnight, Amy Jayne AJ; Crean, John K JK; Maxwell, Alexander P AP; McKay, Gareth J GJ; ,
Application of gene network analysis techniques identifies AXIN1/PDIA2 and endoglin haplotypes associated with bicuspid aortic valve.
Plos One
Wooten, Eric C EC; Iyer, Lakshmanan K LK; Montefusco, Maria Claudia MC; Hedgepeth, Alyson Kelley AK; Payne, Douglas D DD; Kapur, Navin K NK; Housman, David E DE; Mendelsohn, Michael E ME; Huggins, Gordon S GS
Publication Date: 2010-01-21
Variant appearance in text: PDIA2: T286M; rs2685127