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
Penetrance of the V203I variant of the PRNP gene: report of a patient with stroke-like onset of Creutzfeld-Jacob Disease and review of published cases.
Prion
Gandoglia, Ilaria I; Strada, Laura L; Poleggi, Anna A; Castaldi, Antonio A; Del Sette, Massimo M; Di Maria, Emilio E
Detection of Prions in Brain Homogenates and CSF Samples Using a Second-Generation RT-QuIC Assay: A Useful Tool for Retrospective Analysis of Archived Samples.
Pathogens (Basel, Switzerland)
Moško, Tibor T; Galušková, Soňa S; Matěj, Radoslav R; Brůžová, Magdalena M; Holada, Karel K
The importance of ongoing international surveillance for Creutzfeldt-Jakob disease.
Nature Reviews. Neurology
Watson, Neil N; Brandel, Jean-Philippe JP; Green, Alison A; Hermann, Peter P; Ladogana, Anna A; Lindsay, Terri T; Mackenzie, Janet J; Pocchiari, Maurizio M; Smith, Colin C; Zerr, Inga I; Pal, Suvankar S
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
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
Shortening heparan sulfate chains prolongs survival and reduces parenchymal plaques in prion disease caused by mobile, ADAM10-cleaved prions.
Acta Neuropathologica
Aguilar-Calvo, Patricia P; Sevillano, Alejandro M AM; Bapat, Jaidev J; Soldau, Katrin K; Sandoval, Daniel R DR; Altmeppen, Hermann C HC; Linsenmeier, Luise L; Pizzo, Donald P DP; Geschwind, Michael D MD; Sanchez, Henry H; Appleby, Brian S BS; Cohen, Mark L ML; Safar, Jiri G JG; Edland, Steven D SD; Glatzel, Markus M; Nilsson, K Peter R KPR; Esko, Jeffrey D JD; Sigurdson, Christina J CJ
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
Multilevel genomics of colorectal cancers with microsatellite instability-clinical impact of JAK1 mutations and consensus molecular subtype 1.
Genome Medicine
Sveen, Anita A; Johannessen, Bjarne B; Tengs, Torstein T; Danielsen, Stine A SA; Eilertsen, Ina A IA; Lind, Guro E GE; Berg, Kaja C G KCG; Leithe, Edward E; Meza-Zepeda, Leonardo A LA; Domingo, Enric E; Myklebost, Ola O; Kerr, David D; Tomlinson, Ian I; Nesbakken, Arild A; Skotheim, Rolf I RI; Lothe, Ragnhild A RA
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.
Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature.
American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics
Takada, Leonel T LT; Kim, Mee-Ohk MO; Cleveland, Ross W RW; Wong, Katherine K; Forner, Sven A SA; Gala, Ignacio Illán II; Fong, Jamie C JC; Geschwind, Michael D MD
Diagnostic Accuracy of a Combined Analysis of Cerebrospinal Fluid t-PrP, t-tau, p-tau, and Aβ42 in the Differential Diagnosis of Creutzfeldt-Jakob Disease from Alzheimer's Disease with Emphasis on Atypical Disease Variants.
Journal Of Alzheimer'S Disease : Jad
Abu Rumeileh, Samir S; Lattanzio, Francesca F; Stanzani Maserati, Michelangelo M; Rizzi, Romana R; Capellari, Sabina S; Parchi, Piero P
Quantifying prion disease penetrance using large population control cohorts.
Science Translational Medicine
Minikel, Eric Vallabh EV; Vallabh, Sonia M SM; Lek, Monkol M; Estrada, Karol K; Samocha, Kaitlin E KE; Sathirapongsasuti, J Fah JF; McLean, Cory Y CY; Tung, Joyce Y JY; Yu, Linda P C LP; Gambetti, Pierluigi P; Blevins, Janis J; Zhang, Shulin S; Cohen, Yvonne Y; Chen, Wei W; Yamada, Masahito M; Hamaguchi, Tsuyoshi T; Sanjo, Nobuo N; Mizusawa, Hidehiro H; Nakamura, Yosikazu Y; Kitamoto, Tetsuyuki T; Collins, Steven J SJ; Boyd, Alison A; Will, Robert G RG; Knight, Richard R; Ponto, Claudia C; Zerr, Inga I; Kraus, Theo F J TF; Eigenbrod, Sabina S; Giese, Armin A; Calero, Miguel M; de Pedro-Cuesta, Jesús J; Haïk, Stéphane S; Laplanche, Jean-Louis JL; Bouaziz-Amar, Elodie E; Brandel, Jean-Philippe JP; Capellari, Sabina S; Parchi, Piero P; Poleggi, Anna A; Ladogana, Anna A; O'Donnell-Luria, Anne H AH; Karczewski, Konrad J KJ; Marshall, Jamie L JL; Boehnke, Michael M; Laakso, Markku M; Mohlke, Karen L KL; Kähler, Anna A; Chambert, Kimberly K; McCarroll, Steven S; Sullivan, Patrick F PF; Hultman, Christina M CM; Purcell, Shaun M SM; Sklar, Pamela P; van der Lee, Sven J SJ; Rozemuller, Annemieke A; Jansen, Casper C; Hofman, Albert A; Kraaij, Robert R; van Rooij, Jeroen G J JG; Ikram, M Arfan MA; Uitterlinden, André G AG; van Duijn, Cornelia M CM; , ; Daly, Mark J MJ; MacArthur, Daniel G DG
Journal Of Neuropathology And Experimental Neurology
Tousseyn, Thomas T; Bajsarowicz, Krystyna K; Sánchez, Henry H; Gheyara, Ania A; Oehler, Abby A; Geschwind, Michael M; DeArmond, Bernadette B; DeArmond, Stephen J SJ
Proteinase-activated receptor 2 and disease biomarkers in cerebrospinal fluid in cases with autopsy-confirmed prion diseases and other neurodegenerative diseases.
Bmc Neurology
Rohan, Zdenek Z; Smetakova, Magdalena M; Kukal, Jaromir J; Rusina, Robert R; Matej, Radoslav R