PSEN1 c.440C>T ;(p.T147I)

Variant ID: 14-73640375-C-T

NM_000021.3(PSEN1):c.440C>T;(p.T147I)

This variant was identified in 9 publications

View GRCh38 version.




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: PS1: Thr147Ile
PubMed Link: 36142879
Variant Present in the following documents:
  • Main text
  • ijms-23-10970.pdf
View BVdb publication page



Pathogenic PSEN1 Thr119Ile Mutation in Two Korean Patients with Early-Onset Alzheimer's Disease.

Diagnostics (Basel, Switzerland)
Bagyinszky, Eva E; Lee, Hyon H; Pyun, Jung Min JM; Suh, Jeewon J; Kang, Min Ju MJ; Vo, Van Giau VG; An, Seong Soo A SSA; Park, Kee Hyung KH; Kim, SangYun S
Publication Date: 2020-06-14

Variant appearance in text: PS1: Thr147Ile
PubMed Link: 32545847
Variant Present in the following documents:
  • Main text
  • diagnostics-10-00405.pdf
View BVdb publication page



The Genetics of Alzheimer's Disease in the Chinese Population.

International Journal Of Molecular Sciences
Gan, Chen-Ling CL; Zhang, Tao T; Lee, Tae Ho TH
Publication Date: 2020-03-30

Variant appearance in text: PSEN1: T147I
PubMed Link: 32235595
Variant Present in the following documents:
  • Main text
  • ijms-21-02381.pdf
View BVdb publication page



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: T147I
PubMed Link: 31300647
Variant Present in the following documents:
  • 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3
View BVdb publication page



Genetic screen in a large series of patients with primary progressive aphasia.

Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association
Ramos, Eliana Marisa EM; Dokuru, Deepika Reddy DR; Van Berlo, Victoria V; Wojta, Kevin K; Wang, Qing Q; Huang, Alden Y AY; Miller, Zachary A ZA; Karydas, Anna M AM; Bigio, Eileen H EH; Rogalski, Emily E; Weintraub, Sandra S; Rader, Benjamin B; Miller, Bruce L BL; Gorno-Tempini, Maria Luisa ML; Mesulam, Marek-Marsel MM; Coppola, Giovanni G
Publication Date: 2019-04

Variant appearance in text: PSEN1: Thr147Ile
PubMed Link: 30599136
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation.

Neurobiology Of Aging
Wang, Jen-Chyong JC; Alinaghi, Somayeh S; Tafakhori, Abbas A; Sikora, Elizabeth E; Azcona, Luis J LJ; Karkheiran, Siamak S; Goate, Alison A; Paisán-Ruiz, Coro C; Darvish, Hossein H
Publication Date: 2018-02

Variant appearance in text: PSEN1: Thr147Ile
PubMed Link: 29175279
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of the PS1 Thr147Ile Variant in a Family with Very Early Onset Dementia and Expressive Aphasia.

Journal Of Alzheimer'S Disease : Jad
Denvir, James J; Neitch, Shirley S; Fan, Jun J; Niles, Richard M RM; Boskovic, Goran G; Schreurs, Bernard G BG; Primerano, Donald A DA; Alkon, Daniel L DL
Publication Date: 2015

Variant appearance in text: rs63750907
PubMed Link: 25812849
Variant Present in the following documents:
  • Main text
  • jad-46-2-jad150051.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: Thr147Ile
PubMed Link: 25217249
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: Thr147Ile
PubMed Link: 24729694
Variant Present in the following documents:
  • Main text
  • cia-9-535.pdf
View BVdb publication page