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: 749T>C; Leu250Ser

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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Variability in the type and layer distribution of cortical Aβ pathology in familial Alzheimer's disease.

Brain Pathology (Zurich, Switzerland)

Willumsen, Nanet N; Poole, Teresa T; Nicholas, Jennifer M JM; Fox, Nick C NC; Ryan, Natalie S NS; Lashley, Tammaryn T

Publication Date: 2022-05

Variant appearance in text: PSEN1: L250S

PubMed Link: 34319632

Variant Present in the following documents:

• Main text
• BPA-32-e13009.pdf

View BVdb publication page

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: PSEN1: 749T>C; Leu250Ser

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

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: L250S

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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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: L250S; rs63751163

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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: Leu250Ser

PubMed Link: 27799753

Variant Present in the following documents:

• Main text
• cia-11-1467.pdf

View BVdb publication page

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Effect of Presenilin Mutations on APP Cleavage; Insights into the Pathogenesis of FAD.

Frontiers In Aging Neuroscience

Li, Nuomin N; Liu, Kefu K; Qiu, Yunjie Y; Ren, Zehui Z; Dai, Rongji R; Deng, Yulin Y; Qing, Hong H

Publication Date: 2016

Variant appearance in text: PS1: L250S

PubMed Link: 27014058

Variant Present in the following documents:

• Main text
• fnagi-08-00051.pdf

View BVdb publication page

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Targeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis.

Plos Genetics

Couthouis, Julien J; Raphael, Alya R AR; Daneshjou, Roxana R; Gitler, Aaron D AD

Publication Date: 2014-10

Variant appearance in text: PSEN1: L250S

PubMed Link: 25299611

Variant Present in the following documents:

• Main text
• pgen.1004704.pdf

View BVdb publication page

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Changed membrane integration and catalytic site conformation are two mechanisms behind the increased Aβ42/Aβ40 ratio by presenilin 1 familial Alzheimer-linked mutations.

Febs Open Bio

Wanngren, Johanna J; Lara, Patricia P; Ojemalm, Karin K; Maioli, Silvia S; Moradi, Nasim N; Chen, Lu L; Tjernberg, Lars O LO; Lundkvist, Johan J; Nilsson, IngMarie I; Karlström, Helena H

Publication Date: 2014

Variant appearance in text: PS1: L250S

PubMed Link: 24918054

Variant Present in the following documents:

• Main text

View BVdb publication page

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Ryanodine receptors: physiological function and deregulation in Alzheimer disease.

Molecular Neurodegeneration

Del Prete, Dolores D; Checler, Frédéric F; Chami, Mounia M

Publication Date: 2014-06-05

Variant appearance in text: PS1: L250S

PubMed Link: 24902695

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: PS1: L250S

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: PSEN1: Leu250Ser

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: L250S

PubMed Link: 24377094

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic influences on atrophy patterns in familial Alzheimer's disease: a comparison of APP and PSEN1 mutations.

Journal Of Alzheimer'S Disease : Jad

Scahill, Rachael I RI; Ridgway, Gerard R GR; Bartlett, Jonathan W JW; Barnes, Josephine J; Ryan, Natalie S NS; Mead, Simon S; Beck, Jonathan J; Clarkson, Matthew J MJ; Crutch, Sebastian J SJ; Schott, Jonathan M JM; Ourselin, Sebastien S; Warren, Jason D JD; Hardy, John J; Rossor, Martin N MN; Fox, Nick C NC

Publication Date: 2013

Variant appearance in text: PSEN1: L250S

PubMed Link: 23380992

Variant Present in the following documents:

• Main text

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: L250S

PubMed Link: 21685457

Variant Present in the following documents:

• Main text

View BVdb publication page

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The usefulness of biological and neuroimaging markers for the diagnosis of early-onset Alzheimer's disease.

International Journal Of Alzheimer'S Disease

Padovani, Alessandro A; Gilberti, Nicola N; Borroni, Barbara B

Publication Date: 2011-02-21

Variant appearance in text: PSEN1: L250S

PubMed Link: 21559247

Variant Present in the following documents:

• IJAD2011-296374.pdf

View BVdb publication page

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