Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: PSEN1: 806G>A; Arg269His

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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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: PSEN1: Arg269His

PubMed Link: 36750708

Variant Present in the following documents:

• 41598_2023_29108_MOESM1_ESM.xlsx, sheet 11

View BVdb publication page

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Human papillomavirus integration perspective in small cell cervical carcinoma.

Nature Communications

Wang, Xiaoli X; Jia, Wenlong W; Wang, Mengyao M; Liu, Jihong J; Zhou, Xianrong X; Liang, Zhiqing Z; Zhang, Qinghua Q; Long, Sixiang S; Quzhen, Suolang S; Li, Xiangchun X; Tian, Qiang Q; Li, Xiong X; Sun, Haiying H; Zhao, Caili C; Meng, Silu S; Ning, Ruoqi R; Xi, Ling L; Wang, Lin L; Zhou, Shasha S; Zhang, Jianwei J; Wu, Li L; Chen, Yile Y; Liu, Aijun A; Ma, Yaqi Y; Zhao, Xia X; Cheng, Xiaodong X; Zhang, Qing Q; Han, Xiaobing X; Pan, Huaxiong H; Zhang, Yuan Y; Cao, Lili L; Wang, Yiqin Y; Ling, Shaoping S; Cao, Lihua L; Xing, Hui H; Xu, Chang C; Sui, Long L; Wang, Shixuan S; Zhou, Jianfeng J; Kong, Beihua B; Xie, Xing X; Chen, Gang G; Li, Shuaicheng S; Ma, Ding D; Li, Shuang S

Publication Date: 2022-10-10

Variant appearance in text: PSEN1: R269H; rs63750900

PubMed Link: 36216793

Variant Present in the following documents:

• 41467_2022_33359_MOESM21_ESM.xlsx, sheet 1

View BVdb publication page

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PSEN1 c.1292C<A Variant and Early-Onset Alzheimer's Disease: A Scoping Review.

Frontiers In Aging Neuroscience

Orozco-Barajas, Maribel M; Oropeza-Ruvalcaba, Yulisa Y; Canales-Aguirre, Alejandro A AA; Sánchez-González, Victor J VJ

Publication Date: 2022

Variant appearance in text: PSEN1: R269H

PubMed Link: 35959289

Variant Present in the following documents:

• Main text
• fnagi-14-860529.pdf

View BVdb publication page

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Are transient protein-protein interactions more dispensable?

Plos Computational Biology

Ghadie, Mohamed Ali MA; Xia, Yu Y

Publication Date: 2022-04

Variant appearance in text: PSEN1: 806G>A; Arg269His

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4
• pcbi.1010013.s002.xlsx, sheet 2

View BVdb publication page

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Aβ profiles generated by Alzheimer's disease causing PSEN1 variants determine the pathogenicity of the mutation and predict age at disease onset.

Molecular Psychiatry

Petit, Dieter D; Fernández, Sara Gutiérrez SG; Zoltowska, Katarzyna Marta KM; Enzlein, Thomas T; Ryan, Natalie S NS; O'Connor, Antoinette A; Szaruga, Maria M; Hill, Elizabeth E; Vandenberghe, Rik R; Fox, Nick C NC; Chávez-Gutiérrez, Lucía L

Publication Date: 2022-06

Variant appearance in text: PSEN1: R269H

PubMed Link: 35365805

Variant Present in the following documents:

• Main text
• 41380_2022_Article_1518.pdf

View BVdb publication page

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Conformational Models of APP Processing by Gamma Secretase Based on Analysis of Pathogenic Mutations.

International Journal Of Molecular Sciences

Kim, Meewhi M; Bezprozvanny, Ilya I

Publication Date: 2021-12-18

Variant appearance in text: PS1: R269H

PubMed Link: 34948396

Variant Present in the following documents:

• Main text
• ijms-22-13600.pdf

View BVdb publication page

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Conformational Models of APP Processing by Gamma Secretase Based on Analysis of Pathogenic Mutations.

International Journal Of Molecular Sciences

Kim, Meewhi M; Bezprozvanny, Ilya I

Publication Date: 2021-12-18

Variant appearance in text: PS1: R269H

PubMed Link: 34948396

Variant Present in the following documents:

• Main text
• ijms-22-13600.pdf

View BVdb publication page

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The role of genetics in neurodegenerative dementia: a large cohort study in South China.

Npj Genomic Medicine

Jiao, Bin B; Liu, Hui H; Guo, Lina L; Xiao, Xuewen X; Liao, Xinxin X; Zhou, Yafang Y; Weng, Ling L; Zhou, Lu L; Wang, Xin X; Jiang, Yaling Y; Yang, Qijie Q; Zhu, Yuan Y; Zhou, Lin L; Zhang, Weiwei W; Wang, Junling J; Yan, Xinxiang X; Li, Jinchen J; Tang, Beisha B; Shen, Lu L

Publication Date: 2021-08-13

Variant appearance in text: PSEN1: 806G>A

PubMed Link: 34389718

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cerebral Small Vessel Disease in Sporadic and Familial Alzheimer Disease.

The American Journal Of Pathology

Kalaria, Rajesh N RN; Sepulveda-Falla, Diego D

Publication Date: 2021-11

Variant appearance in text: PSEN1: Arg269His

PubMed Link: 34331941

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: PSEN1: R269H

PubMed Link: 32917274

Variant Present in the following documents:

• Main text
• 13195_2020_Article_676.pdf

View BVdb publication page

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Identification of a Rare PSEN1 Mutation (Thr119Ile) in Late-Onset Alzheimer's Disease With Early Presentation of Behavioral Disturbance.

Frontiers In Psychiatry

Zhang, Shouzi S; Li, Xiang X; Zhang, Li L; Meng, Xiangyan X; Ma, Li L; Zhang, Guangze G; Wu, Haiyan H; Liang, Ling L; Cao, Meng M; Mei, Fan F

Publication Date: 2020

Variant appearance in text: PSEN1: R269H

PubMed Link: 32477171

Variant Present in the following documents:

• Main text
• fpsyt-11-00347.pdf

View BVdb publication page

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The Genetics of Alzheimer's Disease in the Chinese Population.

International Journal Of Molecular Sciences

Gan, Chen-Ling CL; Zhang, Tao T; Lee, Tae Ho TH

Publication Date: 2020-03-30

Variant appearance in text: PSEN1: R269H

PubMed Link: 32235595

Variant Present in the following documents:

• Main text
• ijms-21-02381.pdf

View BVdb publication page

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Estimating dispensable content in the human interactome.

Nature Communications

Ghadie, Mohamed M; Xia, Yu Y

Publication Date: 2019-07-19

Variant appearance in text: PSEN1: 806G>A; Arg269His

PubMed Link: 31324802

Variant Present in the following documents:

• 41467_2019_11180_MOESM8_ESM.xlsx, sheet 4
• 41467_2019_11180_MOESM6_ESM.xlsx, sheet 4

View BVdb publication page

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Brain somatic mutations observed in Alzheimer's disease associated with aging and dysregulation of tau phosphorylation.

Nature Communications

Park, Jun Sung JS; Lee, Junehawk J; Jung, Eun Sun ES; Kim, Myeong-Heui MH; Kim, Il Bin IB; Son, Hyeonju H; Kim, Sangwoo S; Kim, Sanghyeon S; Park, Young Mok YM; Mook-Jung, Inhee I; Yu, Seok Jong SJ; Lee, Jeong Ho JH

Publication Date: 2019-07-12

Variant appearance in text: PSEN1: R269H

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

View BVdb publication page

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Extracellular interface between APP and Nicastrin regulates Aβ length and response to γ-secretase modulators.

The Embo Journal

Petit, Dieter D; Hitzenberger, Manuel M; Lismont, Sam S; Zoltowska, Katarzyna Marta KM; Ryan, Natalie S NS; Mercken, Marc M; Bischoff, François F; Zacharias, Martin M; Chávez-Gutiérrez, Lucía L

Publication Date: 2019-06-17

Variant appearance in text: PSEN1: R269H

PubMed Link: 31109937

Variant Present in the following documents:

• Main text
• EMBJ-38-e101494-s001.pdf
• EMBJ-38-e101494.pdf

View BVdb publication page

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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: PSEN1: R269H; rs63750900

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Genetic analysis of neurodegenerative diseases in a pathology cohort.

Neurobiology Of Aging

Blauwendraat, Cornelis C; Pletnikova, Olga O; Geiger, Joshua T JT; Murphy, Natalie A NA; Abramzon, Yevgeniya Y; Rudow, Gay G; Mamais, Adamantios A; Sabir, Marya S MS; Crain, Barbara B; Ahmed, Sarah S; Rosenthal, Liana S LS; Bakker, Catherine C CC; Faghri, Faraz F; Chia, Ruth R; Ding, Jinhui J; Dawson, Ted M TM; Pantelyat, Alexander A; Albert, Marilyn S MS; Nalls, Mike A MA; Resnick, Susan M SM; Ferrucci, Luigi L; Cookson, Mark R MR; Hillis, Argye E AE; Troncoso, Juan C JC; Scholz, Sonja W SW

Publication Date: 2019-04

Variant appearance in text: PSEN1: R269H

PubMed Link: 30528841

Variant Present in the following documents:

• Main text

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: PSEN1: R269H

PubMed Link: 30045758

Variant Present in the following documents:

• Main text
• 13195_2018_Article_400.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: PSEN1: R269H

PubMed Link: 29661148

Variant Present in the following documents:

• Main text
• 12859_2018_Article_2151.pdf
• 12859_2018_2151_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Impairment of memory generalization in preclinical autosomal dominant Alzheimer's disease mutation carriers.

Neurobiology Of Aging

Petok, Jessica R JR; Myers, Catherine E CE; Pa, Judy J; Hobel, Zachary Z; Wharton, David M DM; Medina, Luis D LD; Casado, Maria M; Coppola, Giovanni G; Gluck, Mark A MA; Ringman, John M JM

Publication Date: 2018-05

Variant appearance in text: PSEN1: R269H

PubMed Link: 29494861

Variant Present in the following documents:

• Main text

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: PSEN1: 806G>A; Arg269His

PubMed Link: 28350801

Variant Present in the following documents:

• Main text
• pmed.1002270.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: PSEN1: 806G>A; R269H

PubMed Link: 28003435

Variant Present in the following documents:

• supp_gr.210609.116_Supplemental_Variant_data.xlsx, sheet 2
• supp_gr.210609.116_Supplemental_Clinical_data.xlsx, sheet 2

View BVdb publication page

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Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries.

Clinical Interventions In Aging

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

Publication Date: 2016

Variant appearance in text: PSEN1: Arg269His

PubMed Link: 27799753

Variant Present in the following documents:

• Main text
• cia-11-1467.pdf

View BVdb publication page

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Processing of Self versus Non-Self in Alzheimer's Disease.

Frontiers In Human Neuroscience

Bond, Rebecca L RL; Downey, Laura E LE; Weston, Philip S J PS; Slattery, Catherine F CF; Clark, Camilla N CN; Macpherson, Kirsty K; Mummery, Catherine J CJ; Warren, Jason D JD

Publication Date: 2016

Variant appearance in text: PSEN1: R269H

PubMed Link: 27014028

Variant Present in the following documents:

• Main text
• fnhum-10-00097.pdf

View BVdb publication page

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Systematic review and meta-analysis of Japanese familial Alzheimer's disease and FTDP-17.

Journal Of Human Genetics

Kasuga, Kensaku K; Kikuchi, Masataka M; Tokutake, Takayoshi T; Nakaya, Akihiro A; Tezuka, Toshiyuki T; Tsukie, Tamao T; Hara, Norikazu N; Miyashita, Akinori A; Kuwano, Ryozo R; Ikeuchi, Takeshi T

Publication Date: 2015-05

Variant appearance in text: PSEN1: Arg269His

PubMed Link: 25694106

Variant Present in the following documents:

• jhg201515x1.pdf

View BVdb publication page

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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: PSEN1: Arg269His

PubMed Link: 25217249

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: PSEN1: Arg269His

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

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: PSEN1: R269H

PubMed Link: 24377094

Variant Present in the following documents:

• Main text
• BMRI2013-689591.pdf

View BVdb publication page

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Magnetic resonance imaging evidence for presymptomatic change in thalamus and caudate in familial Alzheimer's disease.

Brain : A Journal Of Neurology

Ryan, Natalie S NS; Keihaninejad, Shiva S; Shakespeare, Timothy J TJ; Lehmann, Manja M; Crutch, Sebastian J SJ; Malone, Ian B IB; Thornton, John S JS; Mancini, Laura L; Hyare, Harpreet H; Yousry, Tarek T; Ridgway, Gerard R GR; Zhang, Hui H; Modat, Marc M; Alexander, Daniel C DC; Rossor, Martin N MN; Ourselin, Sebastien S; Fox, Nick C NC

Publication Date: 2013-05

Variant appearance in text: PSEN1: R269H

PubMed Link: 23539189

Variant Present in the following documents:

• Main text
• awt065.pdf

View BVdb publication page

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Comparison of clinical characteristics between familial and non-familial early onset Alzheimer's disease.

Journal Of Neurology

Joshi, Aditi A; Ringman, John M JM; Lee, Albert S AS; Juarez, Kevin O KO; Mendez, Mario F MF

Publication Date: 2012-10

Variant appearance in text: PSEN1: R269H

PubMed Link: 22460587

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutation screening of patients with Alzheimer disease identifies APP locus duplication in a Swedish patient.

Bmc Research Notes

Thonberg, Håkan H; Fallström, Marie M; Björkström, Jenny J; Schoumans, Jacqueline J; Nennesmo, Inger I; Graff, Caroline C

Publication Date: 2011-11-01

Variant appearance in text: S182: Arg269His

PubMed Link: 22044463

Variant Present in the following documents:

• 1756-0500-4-476.pdf

View BVdb publication page

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Cerebral microbleeds in familial Alzheimer's disease.

Brain : A Journal Of Neurology

Ryan, Natalie S NS; Bastos-Leite, António J AJ; Rohrer, Jonathan D JD; Werring, David J DJ; Fox, Nick C NC; Rossor, Martin N MN; Schott, Jonathan M JM

Publication Date: 2012-01

Variant appearance in text: PSEN1: R269H

PubMed Link: 21685457

Variant Present in the following documents:

• Main text

View BVdb publication page

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The PSEN1 I143T mutation in a Swedish family with Alzheimer's disease: clinical report and quantification of Aβ in different brain regions.

European Journal Of Human Genetics : Ejhg

Keller, Lina L; Welander, Hedvig H; Chiang, Huei-Hsin HH; Tjernberg, Lars O LO; Nennesmo, Inger I; Wallin, Asa K AK; Graff, Caroline C

Publication Date: 2010-11

Variant appearance in text: PSEN1: R269H

PubMed Link: 20628413

Variant Present in the following documents:

• Main text

View BVdb publication page

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