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: PSEN1: Ala396Thr

PubMed Link: 37176125

Variant Present in the following documents:

• Main text
• ijms-24-08417.pdf

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Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.

International Journal Of Molecular Sciences

Bagaria, Jaya J; Bagyinszky, Eva E; An, Seong Soo A SSA

Publication Date: 2022-09-19

Variant appearance in text: PSEN1: Ala396Thr

PubMed Link: 36142879

Variant Present in the following documents:

• Main text
• ijms-23-10970.pdf

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Discovery and validation of dominantly inherited Alzheimer's disease mutations in populations from Latin America.

Alzheimer'S Research & Therapy

Takada, Leonel Tadao LT; Aláez-Verson, Carmen C; Burgute, Bhagyashri D BD; Nitrini, Ricardo R; Sosa, Ana Luisa AL; Castilhos, Raphael Machado RM; Chaves, Marcia Fagundes MF; Longoria, Erika-Mariana EM; Carrillo-Sánchez, Karol K; Brucki, Sonia Maria Dozzi SMD; Flores-Lagunes, Luis Leonardo LL; Molina, Carolina C; Olivares, Marcos Jimenez MJ; Ziegemeier, Ellen E; Petranek, Jennifer J; Goate, Alison M AM; Cruchaga, Carlos C; Renton, Alan E AE; Fernández, Maria Victoria MV; Day, Gregory S GS; McDade, Eric E; Bateman, Randall J RJ; Karch, Celeste M CM; Llibre-Guerra, Jorge J JJ; ,

Publication Date: 2022-08-05

Variant appearance in text: PSEN1: Ala396Thr

PubMed Link: 35932032

Variant Present in the following documents:

• Main text
• 13195_2022_Article_1052.pdf

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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: A396T

PubMed Link: 34948396

Variant Present in the following documents:

• Main text
• ijms-22-13600.pdf

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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: A396T

PubMed Link: 34948396

Variant Present in the following documents:

• Main text
• ijms-22-13600.pdf

View BVdb publication page

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The Regulation of microRNAs in Alzheimer's Disease.

Frontiers In Neurology

Kou, Xianjuan X; Chen, Dandan D; Chen, Ning N

Publication Date: 2020

Variant appearance in text: PSEN1: A396T

PubMed Link: 32362867

Variant Present in the following documents:

• fneur-11-00288.pdf

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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: PSEN1: A396T

PubMed Link: 32087291

Variant Present in the following documents:

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

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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: A396T

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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Diffuse Lewy Body Disease and Alzheimer Disease: Neuropathologic Phenotype Associated With the PSEN1 p.A396T Mutation.

Journal Of Neuropathology And Experimental Neurology

Gondim, Dibson D DD; Oblak, Adrian A; Murrell, Jill R JR; Richardson, Rose R; Epperson, Francine F; Ross, Owen A OA; Ghetti, Bernardino B

Publication Date: 2019-07-01

Variant appearance in text: PSEN1: 1186G>A; A396T

PubMed Link: 31165862

Variant Present in the following documents:

• Main text

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Discovery and validation of autosomal dominant Alzheimer's disease mutations.

Alzheimer'S Research & Therapy

Hsu, Simon S; Gordon, Brian A BA; Hornbeck, Russ R; Norton, Joanne B JB; Levitch, Denise D; Louden, Adia A; Ziegemeier, Ellen E; Laforce, Robert R; Chhatwal, Jasmeer J; Day, Gregory S GS; McDade, Eric E; Morris, John C JC; Fagan, Anne M AM; Benzinger, Tammie L S TLS; Goate, Alison M AM; Cruchaga, Carlos C; Bateman, Randall J RJ; , ; Karch, Celeste M CM

Publication Date: 2018-07-18

Variant appearance in text: PSEN1: A396T

PubMed Link: 30021643

Variant Present in the following documents:

• Main text
• 13195_2018_Article_392.pdf

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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: A396T

PubMed Link: 29661148

Variant Present in the following documents:

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

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: PSEN1: 1186G>A; A396T

PubMed Link: 22503161

Variant Present in the following documents:

• Main text

View BVdb publication page

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