Publications:

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Presenilin-1 (PSEN1) Mutations: Clinical Phenotypes beyond Alzheimer's Disease.

International Journal Of Molecular Sciences

Yang, Youngsoon Y; Bagyinszky, Eva E; An, Seong Soo A SSA

Publication Date: 2023-05-08

Variant appearance in text: PSEN2: Arg71Trp

PubMed Link: 37176125

Variant Present in the following documents:

• Main text
• ijms-24-08417.pdf

View BVdb publication page

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Notch signaling pathway: a comprehensive prognostic and gene expression profile analysis in breast cancer.

Bmc Cancer

Yousefi, Hassan H; Bahramy, Afshin A; Zafari, Narges N; Delavar, Mahsa Rostamian MR; Nguyen, Khoa K; Haghi, Atousa A; Kandelouei, Tahmineh T; Vittori, Cecilia C; Jazireian, Parham P; Maleki, Sajad S; Imani, Danyal D; Moshksar, Amin A; Bitaraf, Amirreza A; Babashah, Sadegh S

Publication Date: 2022-12-07

Variant appearance in text: PSEN2: R71W

PubMed Link: 36476410

Variant Present in the following documents:

• Main text
• 12885_2022_Article_10383.pdf

View BVdb publication page

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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: Arg71Trp

PubMed Link: 36362122

Variant Present in the following documents:

• Main text
• ijms-23-13331.pdf

View BVdb publication page

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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

Publication Date: 2022

Variant appearance in text: PSEN2: R71W

PubMed Link: 36268024

Variant Present in the following documents:

• Table_1.xlsx, sheet 3

View BVdb publication page

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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

PubMed Link: 36133075

Variant Present in the following documents:

• Main text
• fnagi-14-969817.pdf

View BVdb publication page

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Genetic Architecture and Molecular, Imaging and Prodromic Markers in Dementia with Lewy Bodies: State of the Art, Opportunities and Challenges.

International Journal Of Molecular Sciences

Combi, Romina R; Salsone, Maria M; Villa, Chiara C; Ferini-Strambi, Luigi L

Publication Date: 2021-04-12

Variant appearance in text: PSEN2: Arg71Trp

PubMed Link: 33921279

Variant Present in the following documents:

• Main text

View BVdb publication page

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Patients with coronary heart disease, dilated cardiomyopathy and idiopathic ventricular tachycardia share overlapping patterns of pathogenic variation in cardiac risk genes.

Peerj

Guelly, Christian C; Abilova, Zhannur Z; Nuralinov, Omirbek O; Panzitt, Katrin K; Akhmetova, Ainur A; Rakhimova, Saule S; Kozhamkulov, Ulan U; Kairov, Ulykbek U; Molkenov, Askhat A; Seisenova, Ainur A; Trajanoski, Slave S; Abildinova Rashbayeva, Gulzhaina G; Kaussova, Galina G; Windpassinger, Christian C; Lee, Joseph H JH; Zhumadilov, Zhaxybay Z; Bekbossynova, Makhabbat M; Akilzhanova, Ainur A

Publication Date: 2021

Variant appearance in text: PSEN2: R71W

PubMed Link: 33552729

Variant Present in the following documents:

• peerj-09-10711-s004.xlsx, sheet 1

View BVdb publication page

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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

Publication Date: 2021-05

Variant appearance in text: PSEN2: Arg71Trp

PubMed Link: 33006056

Variant Present in the following documents:

• Main text
• 10072_2020_Article_4774.pdf

View BVdb publication page

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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: R71W

PubMed Link: 32087291

Variant Present in the following documents:

• Main text
• nihms-1588025.pdf
• NIHMS1588025-supplement-Supplemental_Table.xlsx, sheet 1
• NIHMS1588025-supplement-Supplemental_Table.xlsx, sheet 2

View BVdb publication page

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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: R71W

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 5

View BVdb publication page

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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

PubMed Link: 30775854

Variant Present in the following documents:

• EHF2-6-436-s005.xlsx, sheet 1

View BVdb publication page

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Dementia with Lewy bodies: an update and outlook.

Molecular Neurodegeneration

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

PubMed Link: 30665447

Variant Present in the following documents:

• Main text
• 13024_2019_Article_306.pdf

View BVdb publication page

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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

PubMed Link: 30114415

Variant Present in the following documents:

• EMS83060-supplement-Supplementary_Tables_S1_S10.xlsx, sheet 6

View BVdb publication page

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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: R71W

PubMed Link: 30045758

Variant Present in the following documents:

• Main text
• 13195_2018_Article_400.pdf

View BVdb publication page

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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

Publication Date: 2019-03

Variant appearance in text: PSEN2: 211C>T

PubMed Link: 29961767

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: R71W

PubMed Link: 29692703

Variant Present in the following documents:

• Main text
• fnins-12-00230.pdf

View BVdb publication page

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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: R71W

PubMed Link: 29661148

Variant Present in the following documents:

• 12859_2018_2151_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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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

PubMed Link: 29602769

Variant Present in the following documents:

• supp_mcs.a002246_Supplemental_Table_1.xlsx, sheet 1

View BVdb publication page

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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

Publication Date: 2017

Variant appearance in text: PS2: R71W

PubMed Link: 29109765

Variant Present in the following documents:

• Main text
• thnov07p3624.pdf

View BVdb publication page

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APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.

Plos Medicine

Lanoiselée, Hélène-Marie HM; Nicolas, Gaël G; Wallon, David D; Rovelet-Lecrux, Anne A; Lacour, Morgane M; Rousseau, Stéphane S; Richard, Anne-Claire AC; Pasquier, Florence F; Rollin-Sillaire, Adeline A; Martinaud, Olivier O; Quillard-Muraine, Muriel M; de la Sayette, Vincent V; Boutoleau-Bretonniere, Claire C; Etcharry-Bouyx, Frédérique F; Chauviré, Valérie V; Sarazin, Marie M; le Ber, Isabelle I; Epelbaum, Stéphane S; Jonveaux, Thérèse T; Rouaud, Olivier O; Ceccaldi, Mathieu M; Félician, Olivier O; Godefroy, Olivier O; Formaglio, Maite M; Croisile, Bernard B; Auriacombe, Sophie S; Chamard, Ludivine L; Vincent, Jean-Louis JL; Sauvée, Mathilde M; Marelli-Tosi, Cecilia C; Gabelle, Audrey A; Ozsancak, Canan C; Pariente, Jérémie J; Paquet, Claire C; Hannequin, Didier D; Campion, Dominique D; ,

Publication Date: 2017-03

Variant appearance in text: PSEN2: Arg71Trp

PubMed Link: 28350801

Variant Present in the following documents:

• Main text

View BVdb publication page

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A case of possibly pathogenic PSEN2 R62C mutation in a patient with probable early-onset Alzheimer's dementia supported by structure prediction.

Clinical Interventions In Aging

Park, Kyung Won KW; An, Seong Soo SS; Bagyinszky, Eva E; Kim, SangYun S

Publication Date: 2017

Variant appearance in text: PSEN2: R71W

PubMed Link: 28243073

Variant Present in the following documents:

• Main text
• cia-12-367.pdf

View BVdb publication page

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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: R71W

PubMed Link: 28003435

Variant Present in the following documents:

• supp_gr.210609.116_Supplemental_Variant_data.xlsx, sheet 8
• supp_gr.210609.116_Supplemental_Clinical_data.xlsx, sheet 8

View BVdb publication page

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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: 211C>T; Arg71Trp

PubMed Link: 26242991

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: R71W

PubMed Link: 26203236

Variant Present in the following documents:

• Main text
• cia-10-1163.pdf

View BVdb publication page

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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

Publication Date: 2015

Variant appearance in text: rs140501902

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

View BVdb publication page

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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

PubMed Link: 25604855

Variant Present in the following documents:

• Main text

View BVdb publication page

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Alzheimer's disease genetics: from the bench to the clinic.

Neuron

Karch, Celeste M CM; Cruchaga, Carlos C; Goate, Alison M AM

Publication Date: 2014-07-02

Variant appearance in text: PSEN2: R71W

PubMed Link: 24991952

Variant Present in the following documents:

• Main text

View BVdb publication page

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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

Publication Date: 2014-10-30

Variant appearance in text: PS2: R71W

PubMed Link: 24858037

Variant Present in the following documents:

• Main text

View BVdb publication page

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The genetics of Alzheimer's disease.

Clinical Interventions In Aging

Bagyinszky, Eva E; Youn, Young Chul YC; An, Seong Soo A SS; Kim, SangYun S

Publication Date: 2014

Variant appearance in text: PSEN2: Arg71Trp

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

View BVdb publication page

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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

Publication Date: 2014

Variant appearance in text: PSEN2: R71W

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-9.xlsx, sheet 1

View BVdb publication page

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Clinical, biological, and imaging features of monogenic Alzheimer's Disease.

Biomed Research International

Pilotto, Andrea A; Padovani, Alessandro A; Borroni, Barbara B

Publication Date: 2013

Variant appearance in text: PSEN2: R71W

PubMed Link: 24377094

Variant Present in the following documents:

• Main text
• BMRI2013-689591.pdf

View BVdb publication page

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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: rs140501902

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

View BVdb publication page

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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

PubMed Link: 23990795

Variant Present in the following documents:

• Main text
• pgen.1003685.pdf

View BVdb publication page

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RNAi-mediated inhibition of presenilin 2 inhibits glioma cell growth and invasion and is involved in the regulation of Nrg1/ErbB signaling.

Neuro-Oncology

Liu, Bei B; Wang, Liang L; Shen, Liang-Liang LL; Shen, Ming-Zhi MZ; Guo, Xiao-Dong XD; Wang, Tao T; Liang, Qin-Chuan QC; Wang, Chao C; Zheng, Jun J; Li, Yi Y; Jia, Lin-Tao LT; Zhang, Hua H; Gao, Guo-Dong GD

Publication Date: 2012-08

Variant appearance in text: PS2: R71W

PubMed Link: 22753229

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 211C>T; R71W

PubMed Link: 22503161

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: R71W

PubMed Link: 22312439

Variant Present in the following documents:

• Main text
• pone.0031039.pdf

View BVdb publication page

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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: R71W

PubMed Link: 20375137

Variant Present in the following documents:

• Main text

View BVdb publication page

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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

Publication Date: 2010-05

Variant appearance in text: PSEN2: R71W

PubMed Link: 18667258

Variant Present in the following documents:

• Main text

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