Publications:

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: PSEN1: S365A; rs200888596

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Presenilin-1 F105C mutation leads to tau accumulation in human neurons via the Akt/mTORC1 signaling pathway.

Cell & Bioscience

Chong, Cheong-Meng CM; Tan, Yuan Y; Tong, Jiaqi J; Ke, Minjing M; Zhang, Ke K; Yan, Lingli L; Cen, Xiaotong X; Lu, Jia-Hong JH; Chen, Guobing G; Su, Huanxing H; Qin, Dajiang D

Publication Date: 2022-08-14

Variant appearance in text: PS1: S365A

PubMed Link: 35965317

Variant Present in the following documents:

• Main text
• 13578_2022_Article_874.pdf

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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: S365A

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

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Dominant negative mechanism of Presenilin-1 mutations in FAD.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Watanabe, Hirotaka H; Shen, Jie J

Publication Date: 2017-11-28

Variant appearance in text: PS1: S365A

PubMed Link: 29142009

Variant Present in the following documents:

• Main text

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Dominant negative effect of the loss-of-function γ-secretase mutants on the wild-type enzyme through heterooligomerization.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Zhou, Rui R; Yang, Guanghui G; Shi, Yigong Y

Publication Date: 2017-11-28

Variant appearance in text: PS1: S365A

PubMed Link: 29078389

Variant Present in the following documents:

• Main text
• pnas.201713605.pdf

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Pathogenic PS1 phosphorylation at Ser367.

Elife

Maesako, Masato M; Horlacher, Jana J; Zoltowska, Katarzyna M KM; Kastanenka, Ksenia V KV; Kara, Eleanna E; Svirsky, Sarah S; Keller, Laura J LJ; Li, Xuejing X; Hyman, Bradley T BT; Bacskai, Brian J BJ; Berezovska, Oksana O

Publication Date: 2017-01-30

Variant appearance in text: PS1: S365A

PubMed Link: 28132667

Variant Present in the following documents:

• Main text
• elife-19720.pdf

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Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Sun, Linfeng L; Zhou, Rui R; Yang, Guanghui G; Shi, Yigong Y

Publication Date: 2017-01-24

Variant appearance in text: PS1: S365A

PubMed Link: 27930341

Variant Present in the following documents:

• Main text

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: PSEN1: S365A

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s5.xls, sheet 1

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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: Ser365Ala

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

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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: PSEN1: 1093T>G; S365A

PubMed Link: 18667258

Variant Present in the following documents:

• Main text

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