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: Thr291Ala

PubMed Link: 37176125

Variant Present in the following documents:

• ijms-24-08417.pdf

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: T291A

PubMed Link: 34319632

Variant Present in the following documents:

• Main text
• BPA-32-e13009.pdf

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Human myelomeningocele risk and ultra-rare deleterious variants in genes associated with cilium, WNT-signaling, ECM, cytoskeleton and cell migration.

Scientific Reports

Au, K S KS; Hebert, L L; Hillman, P P; Baker, C C; Brown, M R MR; Kim, D-K DK; Soldano, K K; Garrett, M M; Ashley-Koch, A A; Lee, S S; Gleeson, J J; Hixson, J E JE; Morrison, A C AC; Northrup, H H

Publication Date: 2021-02-11

Variant appearance in text: PSEN1: T291A

PubMed Link: 33574475

Variant Present in the following documents:

• 41598_2021_83058_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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Familial Alzheimer's Disease Mutations in PSEN1 Lead to Premature Human Stem Cell Neurogenesis.

Cell Reports

Arber, Charles C; Lovejoy, Christopher C; Harris, Lachlan L; Willumsen, Nanet N; Alatza, Argyro A; Casey, Jackie M JM; Lines, Georgie G; Kerins, Caoimhe C; Mueller, Anika K AK; Zetterberg, Henrik H; Hardy, John J; Ryan, Natalie S NS; Fox, Nick C NC; Lashley, Tammaryn T; Wray, Selina S

Publication Date: 2021-01-12

Variant appearance in text: PSEN1: T291A

PubMed Link: 33440141

Variant Present in the following documents:

• Main text
• mmc3.pdf

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Disease duration in autosomal dominant familial Alzheimer disease: A survival analysis.

Neurology. Genetics

Pavisic, Ivanna M IM; Nicholas, Jennifer M JM; O'Connor, Antoinette A; Rice, Helen H; Lu, Kirsty K; Fox, Nick C NC; Ryan, Natalie S NS

Publication Date: 2020-10

Variant appearance in text: PSEN1: Thr291Ala

PubMed Link: 33225064

Variant Present in the following documents:

• Main text
• NG2020014597.pdf

View BVdb publication page

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Investigation of pathology, expression and proteomic profiles in human TREM2 variant postmortem brains with and without Alzheimer's disease.

Brain Pathology (Zurich, Switzerland)

Toomey, Christina E CE; Heywood, Wendy W; Benson, Bridget C BC; Packham, Georgia G; Mills, Kevin K; Lashley, Tammaryn T

Publication Date: 2020-07

Variant appearance in text: PSEN1: T291A

PubMed Link: 32267026

Variant Present in the following documents:

• Main text
• BPA-30-794.pdf

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The intact postsynaptic protein neurogranin is reduced in brain tissue from patients with familial and sporadic Alzheimer's disease.

Acta Neuropathologica

Kvartsberg, Hlin H; Lashley, Tammaryn T; Murray, Christina E CE; Brinkmalm, Gunnar G; Cullen, Nicholas C NC; Höglund, Kina K; Zetterberg, Henrik H; Blennow, Kaj K; Portelius, Erik E

Publication Date: 2019-01

Variant appearance in text: PSEN1: T291A

PubMed Link: 30244311

Variant Present in the following documents:

• Main text

View BVdb publication page

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The presubiculum is preserved from neurodegenerative changes in Alzheimer's disease.

Acta Neuropathologica Communications

Murray, Christina E CE; Gami-Patel, Priya P; Gkanatsiou, Eleni E; Brinkmalm, Gunnar G; Portelius, Erik E; Wirths, Oliver O; Heywood, Wendy W; Blennow, Kaj K; Ghiso, Jorge J; Holton, Janice L JL; Mills, Kevin K; Zetterberg, Henrik H; Revesz, Tamas T; Lashley, Tammaryn T

Publication Date: 2018-07-20

Variant appearance in text: PS1: T291A

PubMed Link: 30029687

Variant Present in the following documents:

• Main text
• 40478_2018_Article_563.pdf

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A myristoylated calcium-binding protein that preferentially interacts with the Alzheimer's disease presenilin 2 protein.

The Journal Of Cell Biology

Stabler, S M SM; Ostrowski, L L LL; Janicki, S M SM; Monteiro, M J MJ

Publication Date: 1999-06-14

Variant appearance in text: PS1: T291A

PubMed Link: 10366599

Variant Present in the following documents:

• Main text
• 9811085.pdf

View BVdb publication page

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