PSEN1 c.862T>C ;(p.Y288H)

Variant ID: 14-73664831-T-C

NM_000021.3(PSEN1):c.862T>C;(p.Y288H)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


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: Tyr288His
PubMed Link: 37176125
Variant Present in the following documents:
  • ijms-24-08417.pdf
View BVdb publication page



Longitudinal Accumulation of Cerebral Microhemorrhages in Dominantly Inherited Alzheimer Disease.

Neurology
Joseph-Mathurin, Nelly N; Wang, Guoqiao G; Kantarci, Kejal K; Jack, Clifford R CR; McDade, Eric E; Hassenstab, Jason J; Blazey, Tyler M TM; Gordon, Brian A BA; Su, Yi Y; Chen, Gengsheng G; Massoumzadeh, Parinaz P; Hornbeck, Russ C RC; Allegri, Ricardo F RF; Ances, Beau M BM; Berman, Sarah B SB; Brickman, Adam M AM; Brooks, William S WS; Cash, David M DM; Chhatwal, Jasmeer P JP; Chui, Helena C HC; Correia, Stephen S; Cruchaga, Carlos C; Farlow, Martin R MR; Fox, Nick C NC; Fulham, Michael M; Ghetti, Bernardino B; Graff-Radford, Neill R NR; Johnson, Keith A KA; Karch, Celeste M CM; Laske, Christoph C; Lee, Athene K W AKW; Levin, Johannes J; Masters, Colin L CL; Noble, James M JM; O'Connor, Antoinette A; Perrin, Richard J RJ; Preboske, Gregory M GM; Ringman, John M JM; Rowe, Christopher C CC; Salloway, Stephen S; Saykin, Andrew J AJ; Schofield, Peter R PR; Shimada, Hiroyuki H; Shoji, Mikio M; Suzuki, Kazushi K; Villemagne, Victor L VL; Xiong, Chengjie C; Yakushev, Igor I; Morris, John C JC; Bateman, Randall J RJ; Benzinger, Tammie L S TLS; ,
Publication Date: 2021-03-23

Variant appearance in text: PSEN1: Y288H
PubMed Link: 33495373
Variant Present in the following documents:
  • NEUROLOGY2020069963.pdf
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Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network.

Alzheimer'S Research & Therapy
Karch, Celeste M CM; Hernández, Damián D; Wang, Jen-Chyong JC; Marsh, Jacob J; Hewitt, Alex W AW; Hsu, Simon S; Norton, Joanne J; Levitch, Denise D; Donahue, Tamara T; Sigurdson, Wendy W; Ghetti, Bernardino B; Farlow, Martin M; Chhatwal, Jasmeer J; Berman, Sarah S; Cruchaga, Carlos C; Morris, John C JC; Bateman, Randall J RJ; , ; Pébay, Alice A; Goate, Alison M AM
Publication Date: 2018-07-25

Variant appearance in text: PSEN1: Y288H
PubMed Link: 30045758
Variant Present in the following documents:
  • Main text
  • 13195_2018_Article_400.pdf
View BVdb publication page



Genetic heterogeneity in Alzheimer disease and implications for treatment strategies.

Current Neurology And Neuroscience Reports
Ringman, John M JM; Goate, Alison A; Masters, Colin L CL; Cairns, Nigel J NJ; Danek, Adrian A; Graff-Radford, Neill N; Ghetti, Bernardino B; Morris, John C JC; ,
Publication Date: 2014-11

Variant appearance in text: PSEN1: Tyr288His
PubMed Link: 25217249
Variant Present in the following documents:
  • Main text
  • 11910_2014_Article_499.pdf
View BVdb publication page