Publications:

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: His131Arg

PubMed Link: 36142879

Variant Present in the following documents:

• Main text
• ijms-23-10970.pdf

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Mutational analysis in familial Alzheimer's disease of Han Chinese in Taiwan with a predominant mutation PSEN1 p.Met146Ile.

Scientific Reports

Lin, Yung-Shuan YS; Cheng, Chih-Ya CY; Liao, Yi-Chu YC; Hong, Chen-Jee CJ; Fuh, Jong-Ling JL

Publication Date: 2020-11-13

Variant appearance in text: PSEN1: His131Arg

PubMed Link: 33188256

Variant Present in the following documents:

• Main text
• 41598_2020_76794_MOESM2_ESM.pdf
• 41598_2020_Article_76794.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: H131R

PubMed Link: 32087291

Variant Present in the following documents:

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

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Serum neurofilament light levels correlate with severity measures and neurodegeneration markers in autosomal dominant Alzheimer's disease.

Alzheimer'S Research & Therapy

Sánchez-Valle, Raquel R; Heslegrave, Amanda A; Foiani, Martha S MS; Bosch, Beatriz B; Antonell, Anna A; Balasa, Mircea M; Lladó, Albert A; Zetterberg, Henrik H; Fox, Nick C NC

Publication Date: 2018-11-03

Variant appearance in text: PSEN1: H131R

PubMed Link: 30390718

Variant Present in the following documents:

• Main text
• 13195_2018_Article_439.pdf

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Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.

Cancer Cell

Hellmann, Matthew D MD; Nathanson, Tavi T; Rizvi, Hira H; Creelan, Benjamin C BC; Sanchez-Vega, Francisco F; Ahuja, Arun A; Ni, Ai A; Novik, Jacki B JB; Mangarin, Levi M B LMB; Abu-Akeel, Mohsen M; Liu, Cailian C; Sauter, Jennifer L JL; Rekhtman, Natasha N; Chang, Eliza E; Callahan, Margaret K MK; Chaft, Jamie E JE; Voss, Martin H MH; Tenet, Megan M; Li, Xue-Mei XM; Covello, Kelly K; Renninger, Andrea A; Vitazka, Patrik P; Geese, William J WJ; Borghaei, Hossein H; Rudin, Charles M CM; Antonia, Scott J SJ; Swanton, Charles C; Hammerbacher, Jeff J; Merghoub, Taha T; McGranahan, Nicholas N; Snyder, Alexandra A; Wolchok, Jedd D JD

Publication Date: 2018-05-14

Variant appearance in text: PSEN1: H131R

PubMed Link: 29657128

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page