Rare variants and HLA haplotypes associated in patients with neuromyelitis optica spectrum disorders.
Frontiers In Immunology
Tabansky, Inna I; Tanaka, Akemi J AJ; Wang, Jiayao J; Zhang, Guanglan G; Dujmovic, Irena I; Mader, Simone S; Jeganathan, Venkatesh V; DeAngelis, Tracey T; Funaro, Michael M; Harel, Asaff A; Messina, Mark M; Shabbir, Maya M; Nursey, Vishaan V; DeGouvia, William W; Laurent, Micheline M; Blitz, Karen K; Jindra, Peter P; Gudesblatt, Mark M; , ; King, Alejandra A; Drulovic, Jelena J; Yunis, Edmond E; Brusic, Vladimir V; Shen, Yufeng Y; Keskin, Derin B DB; Najjar, Souhel S; Stern, Joel N H JNH
Dementia-related genetic variants in an Italian population of early-onset Alzheimer's disease.
Frontiers In Aging Neuroscience
Bartoletti-Stella, Anna A; Tarozzi, Martina M; Mengozzi, Giacomo G; Asirelli, Francesca F; Brancaleoni, Laura L; Mometto, Nicola N; Stanzani-Maserati, Michelangelo M; Baiardi, Simone S; Linarello, Simona S; Spallazzi, Marco M; Pantieri, Roberta R; Ferriani, Elisa E; Caffarra, Paolo P; Liguori, Rocco R; Parchi, Piero P; Capellari, Sabina S
Publication Date: 2022
Variant appearance in text: PSEN2: 211C>T; Arg71Trp
Singular cases of Alzheimer's disease disclose new and old genetic "acquaintances".
Neurological Sciences : Official Journal Of The Italian Neurological Society And Of The Italian Society Of Clinical Neurophysiology
Coppola, Cinzia C; Saracino, Dario D; Oliva, Mariano M; Cipriano, Lorenzo L; Puoti, Gianfranco G; Pappatà, Sabina S; Di Fede, Giuseppe G; Catania, Marcella M; Ricci, Martina M; Cimini, Sara S; Giaccone, Giorgio G; Bonavita, Simona S; Rossi, Giacomina G
Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy.
Esc Heart Failure
Jääskeläinen, Pertti P; Vangipurapu, Jagadish J; Raivo, Joose J; Kuulasmaa, Teemu T; Heliö, Tiina T; Aalto-Setälä, Katriina K; Kaartinen, Maija M; Ilveskoski, Erkki E; Vanninen, Sari S; Hämäläinen, Liisa L; Melin, John J; Kokkonen, Jorma J; Nieminen, Markku S MS; , ; Laakso, Markku M; Kuusisto, Johanna J
Publication Date: 2019-04
Variant appearance in text: PSEN2: 211C>T; Arg71Trp
Outeiro, Tiago Fleming TF; Koss, David J DJ; Erskine, Daniel D; Walker, Lauren L; Kurzawa-Akanbi, Marzena M; Burn, David D; Donaghy, Paul P; Morris, Christopher C; Taylor, John-Paul JP; Thomas, Alan A; Attems, Johannes J; McKeith, Ian I
Publication Date: 2019-01-21
Variant appearance in text: PSEN2: R71W; rs140501902
Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease.
Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association
Nicolas, Gaël G; Acuña-Hidalgo, Rocío R; Keogh, Michael J MJ; Quenez, Olivier O; Steehouwer, Marloes M; Lelieveld, Stefan S; Rousseau, Stéphane S; Richard, Anne-Claire AC; Oud, Manon S MS; Marguet, Florent F; Laquerrière, Annie A; Morris, Chris M CM; Attems, Johannes J; Smith, Colin C; Ansorge, Olaf O; Al Sarraj, Safa S; Frebourg, Thierry T; Campion, Dominique D; Hannequin, Didier D; Wallon, David D; Gilissen, Christian C; Chinnery, Patrick F PF; Veltman, Joris A JA; Hoischen, Alexander A
Publication Date: 2018-12
Variant appearance in text: PSEN2: 211C>T; Arg71Trp
Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network.
Alzheimer'S Research & Therapy
Karch, Celeste M CM; Hernández, Damián D; Wang, Jen-Chyong JC; Marsh, Jacob J; Hewitt, Alex W AW; Hsu, Simon S; Norton, Joanne J; Levitch, Denise D; Donahue, Tamara T; Sigurdson, Wendy W; Ghetti, Bernardino B; Farlow, Martin M; Chhatwal, Jasmeer J; Berman, Sarah S; Cruchaga, Carlos C; Morris, John C JC; Bateman, Randall J RJ; , ; Pébay, Alice A; Goate, Alison M AM
Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Minoche, Andre E AE; Horvat, Claire C; Johnson, Renee R; Gayevskiy, Velimir V; Morton, Sarah U SU; Drew, Alexander P AP; Woo, Kerhan K; Statham, Aaron L AL; Lundie, Ben B; Bagnall, Richard D RD; Ingles, Jodie J; Semsarian, Christopher C; Seidman, J G JG; Seidman, Christine E CE; Dinger, Marcel E ME; Cowley, Mark J MJ; Fatkin, Diane D
Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease.
Frontiers In Neuroscience
Ibanez, Laura L; Dube, Umber U; Davis, Albert A AA; Fernandez, Maria V MV; Budde, John J; Cooper, Breanna B; Diez-Fairen, Monica M; Ortega-Cubero, Sara S; Pastor, Pau P; Perlmutter, Joel S JS; Cruchaga, Carlos C; Benitez, Bruno A BA
Identification of missing variants by combining multiple analytic pipelines.
Bmc Bioinformatics
Ren, Yingxue Y; Reddy, Joseph S JS; Pottier, Cyril C; Sarangi, Vivekananda V; Tian, Shulan S; Sinnwell, Jason P JP; McDonnell, Shannon K SK; Biernacka, Joanna M JM; Carrasquillo, Minerva M MM; Ross, Owen A OA; Ertekin-Taner, Nilüfer N; Rademakers, Rosa R; Hudson, Matthew M; Mainzer, Liudmila Sergeevna LS; Asmann, Yan W YW
Whole-exome sequencing identifies germline mutation in TP53 and ATRX in a child with genomically aberrant AT/RT and her mother with anaplastic astrocytoma.
Cold Spring Harbor Molecular Case Studies
Nordfors, Kristiina K; Haapasalo, Joonas J; Afyounian, Ebrahim E; Tuominen, Joonas J; Annala, Matti M; Häyrynen, Sergei S; Karhu, Ritva R; Helén, Pauli P; Lohi, Olli O; Nykter, Matti M; Haapasalo, Hannu H; Granberg, Kirsi J KJ
Publication Date: 2018-04
Variant appearance in text: PSEN2: 211C>T; R71W; rs140501902
Presenilin Mutation Suppresses Lung Tumorigenesis via Inhibition of Peroxiredoxin 6 Activity and Expression.
Theranostics
Park, Mi Hee MH; Yun, Hyung-Mun HM; Hwang, Chul Ju CJ; Park, Sang Ick SI; Han, Sang Bae SB; Hwang, Dae Youn DY; Yoon, Do-Young DY; Kim, Sanghyeon S; Hong, Jin Tae JT
Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.
Genome Research
Keogh, Michael J MJ; Wei, Wei W; Wilson, Ian I; Coxhead, Jon J; Ryan, Sarah S; Rollinson, Sara S; Griffin, Helen H; Kurzawa-Akanbi, Marzena M; Santibanez-Koref, Mauro M; Talbot, Kevin K; Turner, Martin R MR; McKenzie, Chris-Anne CA; Troakes, Claire C; Attems, Johannes J; Smith, Colin C; Al Sarraj, Safa S; Morris, Chris M CM; Ansorge, Olaf O; Pickering-Brown, Stuart S; Ironside, James W JW; Chinnery, Patrick F PF
Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.
Plos One
Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E
Rare variants in β-Amyloid precursor protein (APP) and Parkinson's disease.
European Journal Of Human Genetics : Ejhg
Schulte, Eva C EC; Fukumori, Akio A; Mollenhauer, Brit B; Hor, Hyun H; Arzberger, Thomas T; Perneczky, Robert R; Kurz, Alexander A; Diehl-Schmid, Janine J; Hüll, Michael M; Lichtner, Peter P; Eckstein, Gertrud G; Zimprich, Alexander A; Haubenberger, Dietrich D; Pirker, Walter W; Brücke, Thomas T; Bereznai, Benjamin B; Molnar, Maria J MJ; Lorenzo-Betancor, Oswaldo O; Pastor, Pau P; Peters, Annette A; Gieger, Christian C; Estivill, Xavier X; Meitinger, Thomas T; Kretzschmar, Hans A HA; Trenkwalder, Claudia C; Haass, Christian C; Winkelmann, Juliane J
Publication Date: 2015-10
Variant appearance in text: PSEN2: 211C>T; R71W; rs140501902
Loss of presenilin 2 is associated with increased iPLA2 activity and lung tumor development.
Oncogene
Yun, H-M HM; Park, M H MH; Kim, D H DH; Ahn, Y J YJ; Park, K-R KR; Kim, T M TM; Yun, N Y NY; Jung, Y S YS; Hwang, D Y DY; Yoon, D Y DY; Han, S B SB; Hong, J T JT
Integrated analysis of germline and somatic variants in ovarian cancer.
Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Nature Genetics
Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S
The PSEN1, p.E318G variant increases the risk of Alzheimer's disease in APOE-ε4 carriers.
Plos Genetics
Benitez, Bruno A BA; Karch, Celeste M CM; Cai, Yefei Y; Jin, Sheng Chih SC; Cooper, Breanna B; Carrell, David D; Bertelsen, Sarah S; Chibnik, Lori L; Schneider, Julie A JA; Bennett, David A DA; , ; , ; Fagan, Anne M AM; Holtzman, David D; Morris, John C JC; Goate, Alison M AM; Cruchaga, Carlos C
Publication Date: 2013
Variant appearance in text: PSEN2: R71W; rs140501902
Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families.
Plos One
Cruchaga, Carlos C; Haller, Gabe G; Chakraverty, Sumitra S; Mayo, Kevin K; Vallania, Francesco L M FL; Mitra, Robi D RD; Faber, Kelley K; Williamson, Jennifer J; Bird, Tom T; Diaz-Arrastia, Ramon R; Foroud, Tatiana M TM; Boeve, Bradley F BF; Graff-Radford, Neill R NR; St Jean, Pamela P; Lawson, Michael M; Ehm, Margaret G MG; Mayeux, Richard R; Goate, Alison M AM; ,
Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP.
Neurobiology Of Aging
Guerreiro, Rita Joao RJ; Baquero, Miquel M; Blesa, Rafael R; Boada, Mercè M; Brás, Jose Miguel JM; Bullido, Maria J MJ; Calado, Ana A; Crook, Richard R; Ferreira, Carla C; Frank, Ana A; Gómez-Isla, Teresa T; Hernández, Isabel I; Lleó, Alberto A; Machado, Alvaro A; Martínez-Lage, Pablo P; Masdeu, José J; Molina-Porcel, Laura L; Molinuevo, José L JL; Pastor, Pau P; Pérez-Tur, Jordi J; Relvas, Rute R; Oliveira, Catarina Resende CR; Ribeiro, Maria Helena MH; Rogaeva, Ekaterina E; Sa, Alfredo A; Samaranch, Lluís L; Sánchez-Valle, Raquel R; Santana, Isabel I; Tàrraga, Lluís L; Valdivieso, Fernando F; Singleton, Andrew A; Hardy, John J; Clarimón, Jordi J