PSEN2 c.389C>T ;(p.S130L)

Variant ID: 1-227073271-C-T

NM_000447.2(PSEN2):c.389C>T;(p.S130L)

This variant was identified in 54 publications

View GRCh38 version.




Publications:


Rare variant aggregation in 148,508 exomes identifies genes associated with proxy dementia.

Scientific Reports
Wightman, Douglas P DP; Savage, Jeanne E JE; de Leeuw, Christiaan A CA; Jansen, Iris E IE; Posthuma, Danielle D
Publication Date: 2023-02-07

Variant appearance in text: PSEN2: S130L
PubMed Link: 36750708
Variant Present in the following documents:
  • 41598_2023_29108_MOESM1_ESM.xlsx, sheet 11
View BVdb publication page



PSEN2 Thr421Met Mutation in a Patient with Early Onset Alzheimer's Disease.

International Journal Of Molecular Sciences
Yang, YoungSoon Y; Bagyinszky, Eva E; An, Seong Soo A SSA; Kim, SangYun S
Publication Date: 2022-11-01

Variant appearance in text: PSEN2: Ser130Leu
PubMed Link: 36362122
Variant Present in the following documents:
  • Main text
  • ijms-23-13331.pdf
View BVdb publication page



Calabria as a Genetic Isolate: A Model for the Study of Neurodegenerative Diseases.

Biomedicines
Bruno, Francesco F; Laganà, Valentina V; Di Lorenzo, Raffaele R; Bruni, Amalia C AC; Maletta, Raffaele R
Publication Date: 2022-09-15

Variant appearance in text: PSEN2: Ser130Leu
PubMed Link: 36140389
Variant Present in the following documents:
  • Main text
  • biomedicines-10-02288.pdf
View BVdb publication page



Genetic landscape of early-onset dementia in Hungary.

Neurological Sciences : Official Journal Of The Italian Neurological Society And Of The Italian Society Of Clinical Neurophysiology
Csaban, Dora D; Illes, Anett A; Renata, Toth-Bencsik TB; Balicza, Peter P; Pentelenyi, Klara K; Molnar, Viktor V; Gezsi, Andras A; Grosz, Zoltan Z; Gal, Aniko A; Kovacs, Tibor T; Klivenyi, Peter P; Molnar, Maria Judit MJ
Publication Date: 2022-09

Variant appearance in text: PSEN2: S130L
PubMed Link: 35752680
Variant Present in the following documents:
  • Main text
  • 10072_2022_Article_6168.pdf
View BVdb publication page



Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.

Ebiomedicine
Wang, Tao T; Zhao, Tingting T; Liu, Liqiu L; Teng, Huajing H; Fan, Tianda T; Li, Yi Y; Wang, Yan Y; Li, Jinchen J; Xia, Kun K; Sun, Zhongsheng Z
Publication Date: 2022-07

Variant appearance in text: PSEN2: 389C>T; rs63750197
PubMed Link: 35665681
Variant Present in the following documents:
  • mmc26.xlsx, sheet 1
View BVdb publication page



Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.

Frontiers In Genetics
Aguiar, Talita T; Teixeira, Anne A; Scliar, Marília O MO; Sobral de Barros, Juliana J; Lemes, Renan B RB; Souza, Silvia S; Tolezano, Giovanna G; Santos, Fernanda F; Tojal, Israel I; Cypriano, Monica M; Caminada de Toledo, Silvia Regina SR; Valadares, Eugênia E; Borges Pinto, Raquel R; Pinto Artigalas, Osvaldo Afonso OA; Caetano de Aguirre Neto, Joaquim J; Novak, Estela E; Cristofani, Lilian Maria LM; Miura Sugayama, Sofia M SM; Odone, Vicente V; Cunha, Isabela Werneck IW; Lima da Costa, Cecilia Maria CM; Rosenberg, Carla C; Krepischi, Ana A
Publication Date: 2022

Variant appearance in text: PSEN2: 389C>T; rs63750197
PubMed Link: 35495172
Variant Present in the following documents:
  • DataSheet1.xlsx, sheet 3
View BVdb publication page



Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience
Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD
Publication Date: 2022-02

Variant appearance in text: PSEN2: S130L; rs63750197
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
View BVdb publication page



The Potential of Gamma Secretase as a Therapeutic Target for Cardiac Diseases.

Journal Of Personalized Medicine
Sen, Sujoita S; Hallee, Logan L; Lam, Chi Keung CK
Publication Date: 2021-12-04

Variant appearance in text: PS2: Ser130Leu
PubMed Link: 34945766
Variant Present in the following documents:
  • Main text
  • jpm-11-01294.pdf
View BVdb publication page



Structural Predictive Model of Presenilin-2 Protein and Analysis of Structural Effects of Familial Alzheimer's Disease Mutations.

Biochemistry Research International
Soto-Ospina, Alejandro A; Araque Marín, Pedronel P; Bedoya, Gabriel de Jesús GJ; Villegas Lanau, Andrés A
Publication Date: 2021

Variant appearance in text: PS2: Ser130Leu
PubMed Link: 34881055
Variant Present in the following documents:
  • Main text
  • bri2021-9542038.pdf
  • 9542038.f1.pdf
View BVdb publication page



Systems genetics analysis defines importance of TMEM43/LUMA for cardiac- and metabolic-related pathways.

Physiological Genomics
Gu, Qingqing Q; Xu, Fuyi F; Orgil, Buyan-Ochir BO; Khuchua, Zaza Z; Munkhsaikhan, Undral U; Johnson, Jason N JN; Alberson, Neely R NR; Pierre, Joseph F JF; Black, Dennis D DD; Dong, Deli D; Brennan, Jaclyn A JA; Cathey, Brianna M BM; Efimov, Igor R IR; Towbin, Jeffrey A JA; Purevjav, Enkhsaikhan E; Lu, Lu L
Publication Date: 2022-01-01

Variant appearance in text: PSEN2: Ser130Leu
PubMed Link: 34766515
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomic Mosaicism Formed by Somatic Variation in the Aging and Diseased Brain.

Genes
Costantino, Isabel I; Nicodemus, Juliet J; Chun, Jerold J
Publication Date: 2021-07-14

Variant appearance in text: PSEN2: S130L
PubMed Link: 34356087
Variant Present in the following documents:
  • Main text
  • genes-12-01071.pdf
View BVdb publication page



Novel PSEN1 and PSEN2 Mutations Identified in Sporadic Early-onset Alzheimer Disease and Posterior Cortical Atrophy.

Alzheimer Disease And Associated Disorders
Li, Xu-Ying XY; Cui, Yue Y; Jing, Donglai D; Xie, Kexin K; Zhong, Xiaoling X; Kong, Yu Y; Wang, Yuting Y; Chu, Min M; Wang, Chaodong C; Wu, Liyong L
Publication Date: 2021

Variant appearance in text: PSEN2: S130L
PubMed Link: 33973882
Variant Present in the following documents:
  • Main text
View BVdb publication page



Amyloid-β1-43 cerebrospinal fluid levels and the interpretation of APP, PSEN1 and PSEN2 mutations.

Alzheimer'S Research & Therapy
Perrone, Federica F; Bjerke, Maria M; Hens, Elisabeth E; Sieben, Anne A; Timmers, Maarten M; De Roeck, Arne A; Vandenberghe, Rik R; Sleegers, Kristel K; Martin, Jean-Jacques JJ; De Deyn, Peter P PP; Engelborghs, Sebastiaan S; van der Zee, Julie J; Van Broeckhoven, Christine C; Cacace, Rita R; ,
Publication Date: 2020-09-11

Variant appearance in text: PSEN2: S130L
PubMed Link: 32917274
Variant Present in the following documents:
  • Main text
  • 13195_2020_Article_676.pdf
View BVdb publication page



Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2.

Neurobiology Of Disease
Hsu, Simon S; Pimenova, Anna A AA; Hayes, Kimberly K; Villa, Juan A JA; Rosene, Matthew J MJ; Jere, Madhavi M; Goate, Alison M AM; Karch, Celeste M CM
Publication Date: 2020-06

Variant appearance in text: PSEN2: S130L
PubMed Link: 32087291
Variant Present in the following documents:
  • Main text
  • NIHMS1588025-supplement-Supplemental_Table.xlsx, sheet 1
  • nihms-1588025.pdf
View BVdb publication page



Novel presenilin 1 and 2 double knock-out cell line for in vitro validation of PSEN1 and PSEN2 mutations.

Neurobiology Of Disease
Pimenova, Anna A AA; Goate, Alison M AM
Publication Date: 2020-05

Variant appearance in text: PS2: S130L
PubMed Link: 32032730
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28

Variant appearance in text: PSEN2: S130L
PubMed Link: 31253177
Variant Present in the following documents:
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 33
View BVdb publication page



Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07

Variant appearance in text: PSEN2: S130L; rs63750197
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Getting to the Heart of Alzheimer Disease.

Circulation Research
Tublin, Joshua M JM; Adelstein, Jeremy M JM; Del Monte, Federica F; Combs, Colin K CK; Wold, Loren E LE
Publication Date: 2019-01-04

Variant appearance in text: PSEN2: Ser130Leu
PubMed Link: 30605407
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 389C>T; Ser130Leu
PubMed Link: 30114415
Variant Present in the following documents:
  • EMS83060-supplement-Supplementary_Tables_S1_S10.xlsx, sheet 6
View BVdb publication page



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
Publication Date: 2018-07-25

Variant appearance in text: PSEN2: S130L
PubMed Link: 30045758
Variant Present in the following documents:
  • Main text
  • 13195_2018_Article_400.pdf
View BVdb publication page



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
Publication Date: 2018

Variant appearance in text: PSEN2: S130L
PubMed Link: 29692703
Variant Present in the following documents:
  • Main text
  • fnins-12-00230.pdf
View BVdb publication page



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
Publication Date: 2018-04-16

Variant appearance in text: PSEN2: S130L
PubMed Link: 29661148
Variant Present in the following documents:
  • 12859_2018_2151_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



The genes associated with early-onset Alzheimer's disease.

Oncotarget
Dai, Meng-Hui MH; Zheng, Hui H; Zeng, Ling-Dan LD; Zhang, Yan Y
Publication Date: 2018-03-13

Variant appearance in text: PSEN2: S130L
PubMed Link: 29599933
Variant Present in the following documents:
  • Main text
View BVdb publication page



Estimating the mutational load for cardiovascular diseases in Pakistani population.

Plos One
Shakeel, Muhammad M; Irfan, Muhammad M; Khan, Ishtiaq Ahmad IA
Publication Date: 2018

Variant appearance in text: rs63750197
PubMed Link: 29420653
Variant Present in the following documents:
  • pone.0192446.s009.xlsx, sheet 2
View BVdb publication page



Oligogenic genetic variation of neurodegenerative disease genes in 980 postmortem human brains.

Journal Of Neurology, Neurosurgery, And Psychiatry
Keogh, Michael J MJ; Wei, Wei W; Aryaman, Juvid J; Wilson, Ian I; 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; Jones, Nick N; Ironside, James W JW; Chinnery, Patrick F PF
Publication Date: 2018-08

Variant appearance in text: PSEN2: S130L
PubMed Link: 29332010
Variant Present in the following documents:
  • jnnp-2017-317234supp001.pdf
View BVdb publication page



Whole-exome sequencing of the BDR cohort: evidence to support the role of the PILRA gene in Alzheimer's disease.

Neuropathology And Applied Neurobiology
Patel, T T; Brookes, K J KJ; Turton, J J; Chaudhury, S S; Guetta-Baranes, T T; Guerreiro, R R; Bras, J J; Hernandez, D D; Singleton, A A; Francis, P T PT; Hardy, J J; Morgan, K K
Publication Date: 2018-08

Variant appearance in text: PSEN2: S130L; rs63750197
PubMed Link: 29181857
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study.

Journal Of The Peripheral Nervous System : Jpns
Ando, Masahiro M; Hashiguchi, Akihiro A; Okamoto, Yuji Y; Yoshimura, Akiko A; Hiramatsu, Yu Y; Yuan, Junhui J; Higuchi, Yujiro Y; Mitsui, Jun J; Ishiura, Hiroyuki H; Umemura, Ayako A; Maruyama, Koichi K; Matsushige, Takeshi T; Morishita, Shinichi S; Nakagawa, Masanori M; Tsuji, Shoji S; Takashima, Hiroshi H
Publication Date: 2017-09

Variant appearance in text: PS2: 389C>T
PubMed Link: 28660751
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: PSEN2: 389C>T; Ser130Leu
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25

Variant appearance in text: PSEN2: S130L; rs63750197
PubMed Link: 28440294
Variant Present in the following documents:
  • srep46105-s2.xls, sheet 6
  • srep46105-s2.xls, sheet 8
View BVdb publication page



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
Publication Date: 2017-01

Variant appearance in text: PSEN2: S130L
PubMed Link: 28003435
Variant Present in the following documents:
  • supp_gr.210609.116_Supplemental_Clinical_data.xlsx, sheet 7
  • supp_gr.210609.116_Supplemental_Variant_data.xlsx, sheet 7
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: AD4: S130L; rs63750197
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Evaluating pathogenic dementia variants in posterior cortical atrophy.

Neurobiology Of Aging
Carrasquillo, Minerva M MM; Barber, Imelda I; Lincoln, Sarah J SJ; Murray, Melissa E ME; Camsari, Gamze Balci GB; Khan, Qurat Ul Ain QUA; Nguyen, Thuy T; Ma, Li L; Bisceglio, Gina D GD; Crook, Julia E JE; Younkin, Steven G SG; Dickson, Dennis W DW; Boeve, Bradley F BF; Graff-Radford, Neill R NR; Morgan, Kevin K; Ertekin-Taner, Nilüfer N
Publication Date: 2016-01

Variant appearance in text: PSEN2: Ser130Leu; rs63750197
PubMed Link: 26507310
Variant Present in the following documents:
  • Main text
View BVdb publication page



Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons.

European Journal Of Human Genetics : Ejhg
Nicolas, Gaël G; Wallon, David D; Charbonnier, Camille C; Quenez, Olivier O; Rousseau, Stéphane S; Richard, Anne-Claire AC; Rovelet-Lecrux, Anne A; Coutant, Sophie S; Le Guennec, Kilan K; Bacq, Delphine D; Garnier, Jean-Guillaume JG; Olaso, Robert R; Boland, Anne A; Meyer, Vincent V; Deleuze, Jean-François JF; Munter, Hans Markus HM; Bourque, Guillaume G; Auld, Daniel D; Montpetit, Alexandre A; Lathrop, Mark M; Guyant-Maréchal, Lucie L; Martinaud, Olivier O; Pariente, Jérémie J; Rollin-Sillaire, Adeline A; Pasquier, Florence F; Le Ber, Isabelle I; Sarazin, Marie M; Croisile, Bernard B; Boutoleau-Bretonnière, Claire C; Thomas-Antérion, Catherine C; Paquet, Claire C; Sauvée, Mathilde M; Moreaud, Olivier O; Gabelle, Audrey A; Sellal, François F; Ceccaldi, Mathieu M; Chamard, Ludivine L; Blanc, Frédéric F; Frebourg, Thierry T; Campion, Dominique D; Hannequin, Didier D
Publication Date: 2016-05

Variant appearance in text: PSEN2: 389C>T; Ser130Leu
PubMed Link: 26242991
Variant Present in the following documents:
  • Main text
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: PSEN2: S130L
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
View BVdb publication page



Mutations in presenilin 2 and its implications in Alzheimer's disease and other dementia-associated disorders.

Clinical Interventions In Aging
Cai, Yan Y; An, Seong Soo A SS; Kim, SangYun S
Publication Date: 2015

Variant appearance in text: PSEN2: S130L
PubMed Link: 26203236
Variant Present in the following documents:
  • Main text
  • cia-10-1163.pdf
View BVdb publication page



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: 389C>T; S130L; rs63750197
PubMed Link: 25604855
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: PSEN2: S130L; rs63750197
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Genetic heterogeneity in Alzheimer disease and implications for treatment strategies.

Current Neurology And Neuroscience Reports
Ringman, John M JM; Goate, Alison A; Masters, Colin L CL; Cairns, Nigel J NJ; Danek, Adrian A; Graff-Radford, Neill N; Ghetti, Bernardino B; Morris, John C JC; ,
Publication Date: 2014-11

Variant appearance in text: PSEN2: Ser130Leu
PubMed Link: 25217249
Variant Present in the following documents:
  • Main text
View BVdb publication page



Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease.

Neurobiology Of Aging
Sassi, Celeste C; Guerreiro, Rita R; Gibbs, Raphael R; Ding, Jinhui J; Lupton, Michelle K MK; Troakes, Claire C; Al-Sarraj, Safa S; Niblock, Michael M; Gallo, Jean-Marc JM; Adnan, Jihad J; Killick, Richard R; Brown, Kristelle S KS; Medway, Christopher C; Lord, Jenny J; Turton, James J; Bras, Jose J; , ; Morgan, Kevin K; Powell, John F JF; Singleton, Andrew A; Hardy, John J
Publication Date: 2014-12

Variant appearance in text: PSEN2: 389C>T; S130L; rs63750197
PubMed Link: 25104557
Variant Present in the following documents:
  • Main text
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Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease.

Neurobiology Of Aging
Sassi, Celeste C; Guerreiro, Rita R; Gibbs, Raphael R; Ding, Jinhui J; Lupton, Michelle K MK; Troakes, Claire C; Lunnon, Katie K; Al-Sarraj, Safa S; Brown, Kristelle S KS; Medway, Chirstopher C; Lord, Jenny J; Turton, James J; Mann, David D; Snowden, Julie J; Neary, David D; Harris, Jeniffer J; Bras, Jose J; , ; Morgan, Kevin K; Powell, John F JF; Singleton, Andrew A; Hardy, John J
Publication Date: 2014-10

Variant appearance in text: PSEN2: S130L; rs63750197
PubMed Link: 24880964
Variant Present in the following documents:
  • Main text
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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
Publication Date: 2013-11

Variant appearance in text: PSEN2: S130L; rs63750197
PubMed Link: 24036952
Variant Present in the following documents:
  • NIHMS512112-supplement-2.xlsx, sheet 2
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New genes and new insights from old genes: update on Alzheimer disease.

Continuum (Minneapolis, Minn.)
Ringman, John M JM; Coppola, Giovanni G
Publication Date: 2013-04

Variant appearance in text: PSEN2: S130L
PubMed Link: 23558482
Variant Present in the following documents:
  • Main text
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C9ORF72 repeat expansions and other FTD gene mutations in a clinical AD patient series from Mayo Clinic.

American Journal Of Neurodegenerative Disease
Wojtas, Aleksandra A; Heggeli, Kristin A KA; Finch, Nicole N; Baker, Matt M; Dejesus-Hernandez, Mariely M; Younkin, Steven G SG; Dickson, Dennis W DW; Graff-Radford, Neill R NR; Rademakers, Rosa R
Publication Date: 2012

Variant appearance in text: PSEN2: 389C>T; Ser130Leu
PubMed Link: 23383383
Variant Present in the following documents:
  • Main text
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The genetic landscape of high-risk neuroblastoma.

Nature Genetics
Pugh, Trevor J TJ; Morozova, Olena O; Attiyeh, Edward F EF; Asgharzadeh, Shahab S; Wei, Jun S JS; Auclair, Daniel D; Carter, Scott L SL; Cibulskis, Kristian K; Hanna, Megan M; Kiezun, Adam A; Kim, Jaegil J; Lawrence, Michael S MS; Lichenstein, Lee L; McKenna, Aaron A; Pedamallu, Chandra Sekhar CS; Ramos, Alex H AH; Shefler, Erica E; Sivachenko, Andrey A; Sougnez, Carrie C; Stewart, Chip C; Ally, Adrian A; Birol, Inanc I; Chiu, Readman R; Corbett, Richard D RD; Hirst, Martin M; Jackman, Shaun D SD; Kamoh, Baljit B; Khodabakshi, Alireza Hadj AH; Krzywinski, Martin M; Lo, Allan A; Moore, Richard A RA; Mungall, Karen L KL; Qian, Jenny J; Tam, Angela A; Thiessen, Nina N; Zhao, Yongjun Y; Cole, Kristina A KA; Diamond, Maura M; Diskin, Sharon J SJ; Mosse, Yael P YP; Wood, Andrew C AC; Ji, Lingyun L; Sposto, Richard R; Badgett, Thomas T; London, Wendy B WB; Moyer, Yvonne Y; Gastier-Foster, Julie M JM; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Gerhard, Daniela S DS; Hogarty, Michael D MD; Jones, Steven J M SJ; Lander, Eric S ES; Gabriel, Stacey B SB; Getz, Gad G; Seeger, Robert C RC; Khan, Javed J; Marra, Marco A MA; Meyerson, Matthew M; Maris, John M JM
Publication Date: 2013-03

Variant appearance in text: PSEN2: 389C>T; S130L; rs63750197
PubMed Link: 23334666
Variant Present in the following documents:
  • NIHMS474900-supplement-8.xlsx, sheet 1
  • NIHMS474900-supplement-8.xlsx, sheet 2
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Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients.

Neurobiology Of Aging
Lohmann, Ebba E; Guerreiro, Rita J RJ; Erginel-Unaltuna, Nihan N; Gurunlian, Nicole N; Bilgic, Basar B; Gurvit, Hakan H; Hanagasi, Hasmet A HA; Luu, Nga N; Emre, Murat M; Singleton, Andrew A
Publication Date: 2012-08

Variant appearance in text: PSEN2: 389C>T; S130L
PubMed Link: 22503161
Variant Present in the following documents:
  • Main text
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Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.

Circulation. Cardiovascular Genetics
Norton, Nadine N; Robertson, Peggy D PD; Rieder, Mark J MJ; Züchner, Stephan S; Rampersaud, Evadnie E; Martin, Eden E; Li, Duanxiang D; Nickerson, Deborah A DA; Hershberger, Ray E RE; ,
Publication Date: 2012-04-01

Variant appearance in text: PSEN2: Ser130Leu; rs63750197
PubMed Link: 22337857
Variant Present in the following documents:
  • Main text
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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; ,
Publication Date: 2012

Variant appearance in text: PSEN2: Ser130Leu
PubMed Link: 22312439
Variant Present in the following documents:
  • pone.0031039.pdf
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Changes in the expression of the Alzheimer’s disease-associated presenilin gene in drosophila heart leads to cardiac dysfunction.

Current Alzheimer Research
Li, A A; Zhou, C C; Moore, J J; Zhang, P P; Tsai, T H TH; Lee, H C HC; Romano, D M DM; McKee, M L ML; Schoenfeld, D A DA; Serra, M J MJ; Raygor, K K; Cantiello, H F HF; Fujimoto, J G JG; Tanzi, R E RE
Publication Date: 2011-05

Variant appearance in text: PSEN2: S130L
PubMed Link: 21524270
Variant Present in the following documents:
  • Main text
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Rare variant mutations in pregnancy-associated or peripartum cardiomyopathy.

Circulation
Morales, Ana A; Painter, Thomas T; Li, Ran R; Siegfried, Jill D JD; Li, Duanxiang D; Norton, Nadine N; Hershberger, Ray E RE
Publication Date: 2010-05-25

Variant appearance in text: PSEN2: Ser130Leu
PubMed Link: 20458009
Variant Present in the following documents:
  • Main text
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Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2.

Brain : A Journal Of Neurology
Jayadev, Suman S; Leverenz, James B JB; Steinbart, Ellen E; Stahl, Justin J; Klunk, William W; Yu, Cheng-En CE; Bird, Thomas D TD
Publication Date: 2010-04

Variant appearance in text: PSEN2: S130L
PubMed Link: 20375137
Variant Present in the following documents:
  • Main text
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Protein aggregates and novel presenilin gene variants in idiopathic dilated cardiomyopathy.

Circulation
Gianni, Davide D; Li, Airong A; Tesco, Giuseppina G; McKay, Kenneth M KM; Moore, John J; Raygor, Kunal K; Rota, Marcello M; Gwathmey, Judith K JK; Dec, G William GW; Aretz, Thomas T; Leri, Annarosa A; Semigran, Marc J MJ; Anversa, Piero P; Macgillivray, Thomas E TE; Tanzi, Rudolph E RE; del Monte, Federica F
Publication Date: 2010-03-16

Variant appearance in text: PSEN2: S130L
PubMed Link: 20194882
Variant Present in the following documents:
  • Main text
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Mutations of presenilin genes in dilated cardiomyopathy and heart failure.

American Journal Of Human Genetics
Li, Duanxiang D; Parks, Sharie B SB; Kushner, Jessica D JD; Nauman, Deirdre D; Burgess, Donna D; Ludwigsen, Susan S; Partain, Julie J; Nixon, Randal R RR; Allen, Charles N CN; Irwin, Robert P RP; Jakobs, Petra M PM; Litt, Michael M; Hershberger, Ray E RE
Publication Date: 2006-12

Variant appearance in text: PSEN2: S130L
PubMed Link: 17186461
Variant Present in the following documents:
  • Main text
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