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: 1297C>T; Pro433Ser

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Neural Networks in Autosomal Dominant Alzheimer's Disease: Insights From Functional Magnetic Resonance Imaging Studies.

Frontiers In Aging Neuroscience

Qiu, Qiongqiong Q

Publication Date: 2022

Variant appearance in text: PSEN1: P433S

PubMed Link: 35928996

Variant Present in the following documents:

• Main text
• fnagi-14-903269.pdf

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Phosphorylated Tau 181 Serum Levels Predict Alzheimer's Disease in the Preclinical Stage.

Frontiers In Aging Neuroscience

Qin, Wei W; Li, Fangyu F; Jia, Longfei L; Wang, Qi Q; Li, Ying Y; Wei, Yiping Y; Li, Yan Y; Jin, Hongmei H; Jia, Jianping J

Publication Date: 2022

Variant appearance in text: PSEN1: P433S

PubMed Link: 35769604

Variant Present in the following documents:

• Main text
• Data_Sheet_1.pdf
• fnagi-14-900773.pdf

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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: P433S

PubMed Link: 35365805

Variant Present in the following documents:

• Main text
• 41380_2022_Article_1518.pdf

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Gene mutations associated with early onset familial Alzheimer's disease in China: An overview and current status.

Molecular Genetics & Genomic Medicine

Qin, Qi Q; Yin, Yunsi Y; Wang, Yan Y; Lu, Yuanyuan Y; Tang, Yi Y; Jia, Jianping J

Publication Date: 2020-10

Variant appearance in text: PSEN1: 1297C>T

PubMed Link: 32767553

Variant Present in the following documents:

• Main text

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A Coordinated Approach by Public Domain Bioinformatics Resources to Aid the Fight Against Alzheimer's Disease Through Expert Curation of Key Protein Targets.

Journal Of Alzheimer'S Disease : Jad

Breuza, Lionel L; Arighi, Cecilia N CN; Argoud-Puy, Ghislaine G; Casals-Casas, Cristina C; Estreicher, Anne A; Famiglietti, Maria Livia ML; Georghiou, George G; Gos, Arnaud A; Gruaz-Gumowski, Nadine N; Hinz, Ursula U; Hyka-Nouspikel, Nevila N; Kramarz, Barbara B; Lovering, Ruth C RC; Lussi, Yvonne Y; Magrane, Michele M; Masson, Patrick P; Perfetto, Livia L; Poux, Sylvain S; Rodriguez-Lopez, Milagros M; Stoeckert, Christian C; Sundaram, Shyamala S; Wang, Li-San LS; Wu, Elizabeth E; Orchard, Sandra S; ,

Publication Date: 2020

Variant appearance in text: PSEN1: Pro433Ser

PubMed Link: 32716361

Variant Present in the following documents:

• Main text
• jad-77-jad200206.pdf

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Effects of gene mutation and disease progression on representative neural circuits in familial Alzheimer's disease.

Alzheimer'S Research & Therapy

Quan, Meina M; Zhao, Tan T; Tang, Yi Y; Luo, Ping P; Wang, Wei W; Qin, Qi Q; Li, Tingting T; Wang, Qigeng Q; Fang, Jiliang J; Jia, Jianping J

Publication Date: 2020-01-14

Variant appearance in text: PS1: P433S

PubMed Link: 31937364

Variant Present in the following documents:

• Main text
• 13195_2019_Article_572.pdf

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