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: ABCG8: -19T>G; rs3806471
Revealing the Role of High-Density Lipoprotein in Colorectal Cancer.
International Journal Of Molecular Sciences
Zeljkovic, Aleksandra A; Vekic, Jelena J; Mihajlovic, Marija M; Gojkovic, Tamara T; Vladimirov, Sandra S; Zeljkovic, Dejan D; Spasojevic-Kalimanovska, Vesna V; Trifunovic, Bratislav B
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: ABCG8: -19T>G; rs3806471
A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
Genetic variations at ABCG5/G8 genes modulate plasma lipids concentrations in patients with familial hypercholesterolemia.
Atherosclerosis
Garcia-Rios, A A; Perez-Martinez, P P; Fuentes, F F; Mata, P P; Lopez-Miranda, J J; Alonso, R R; Rodriguez, F F; Garcia-Olid, A A; Ruano, J J; Ordovas, J M JM; Perez-Jimenez, F F
The effects of ABCG5/G8 polymorphisms on plasma HDL cholesterol concentrations depend on smoking habit in the Boston Puerto Rican Health Study.
Journal Of Lipid Research
Junyent, Mireia M; Tucker, Katherine L KL; Smith, Caren E CE; Garcia-Rios, Antonio A; Mattei, Josiemer J; Lai, Chao-Qiang CQ; Parnell, Laurence D LD; Ordovas, Jose M JM