Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.
Nature Communications
Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL
Characteristics of Chinese patients with genetic CJD who have E196A or E196K mutation in PRNP: comparative analysis of patients identified in the Chinese National CJD Surveillance System.
Bmj Open
Shi, Qi Q; Xiao, Kang K; Chen, Cao C; Zhou, Wei W; Gao, Li-Ping LP; Wu, Yue-Zhang YZ; Wang, Yuan Y; Hu, Chao C; Gao, Chen C; Dong, Xiao-Ping XP
Homozygous R136S mutation in PRNP gene causes inherited early onset prion disease.
Alzheimer'S Research & Therapy
Ximelis, Teresa T; Marín-Moreno, Alba A; Espinosa, Juan Carlos JC; Eraña, Hasier H; Charco, Jorge M JM; Hernández, Isabel I; Riveira, Carmen C; Alcolea, Daniel D; González-Roca, Eva E; Aldecoa, Iban I; Molina-Porcel, Laura L; Parchi, Piero P; Rossi, Marcello M; Castilla, Joaquín J; Ruiz-García, Raquel R; Gelpi, Ellen E; Torres, Juan María JM; Sánchez-Valle, Raquel R
mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.
Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Detection of Pathognomonic Biomarker PrPSc and the Contribution of Cell Free-Amplification Techniques to the Diagnosis of Prion Diseases.
Biomolecules
Eraña, Hasier H; Charco, Jorge M JM; González-Miranda, Ezequiel E; García-Martínez, Sandra S; López-Moreno, Rafael R; Pérez-Castro, Miguel A MA; Díaz-Domínguez, Carlos M CM; García-Salvador, Adrián A; Castilla, Joaquín J
Absence of single nucleotide polymorphisms (SNPs) in the open reading frame (ORF) of the prion protein gene (PRNP) in a large sampling of various chicken breeds.
Bmc Genomics
Kim, Yong-Chan YC; Won, Sae-Young SY; Jeong, Byung-Hoon BH
The characterization of AD/PART co-pathology in CJD suggests independent pathogenic mechanisms and no cross-seeding between misfolded Aβ and prion proteins.
Acta Neuropathologica Communications
Rossi, Marcello M; Kai, Hideaki H; Baiardi, Simone S; Bartoletti-Stella, Anna A; Carlà, Benedetta B; Zenesini, Corrado C; Capellari, Sabina S; Kitamoto, Tetsuyuki T; Parchi, Piero P
Infectious Disease Transmission in Solid Organ Transplantation: Donor Evaluation, Recipient Risk, and Outcomes of Transmission.
Transplantation Direct
White, Sarah L SL; Rawlinson, William W; Boan, Peter P; Sheppeard, Vicky V; Wong, Germaine G; Waller, Karen K; Opdam, Helen H; Kaldor, John J; Fink, Michael M; Verran, Deborah D; Webster, Angela A; Wyburn, Kate K; Grayson, Lindsay L; Glanville, Allan A; Cross, Nick N; Irish, Ashley A; Coates, Toby T; Griffin, Anthony A; Snell, Greg G; Alexander, Stephen I SI; Campbell, Scott S; Chadban, Steven S; Macdonald, Peter P; Manley, Paul P; Mehakovic, Eva E; Ramachandran, Vidya V; Mitchell, Alicia A; Ison, Michael M
Prion-specific and surrogate CSF biomarkers in Creutzfeldt-Jakob disease: diagnostic accuracy in relation to molecular subtypes and analysis of neuropathological correlates of p-tau and Aβ42 levels.