PSEN1 c.625G>A ;(p.G209R)

Variant ID: 14-73659428-G-A

NM_000021.3(PSEN1):c.625G>A;(p.G209R)

This variant was identified in 14 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: PSEN1: Gly209Arg
PubMed Link: 36142879
Variant Present in the following documents:
  • Main text
  • ijms-23-10970.pdf
View BVdb publication page



Switched Aβ43 generation in familial Alzheimer's disease with presenilin 1 mutation.

Translational Psychiatry
Kakuda, Nobuto N; Takami, Mako M; Okochi, Masayasu M; Kasuga, Kensaku K; Ihara, Yasuo Y; Ikeuchi, Takeshi T
Publication Date: 2021-11-03

Variant appearance in text: PS1: G209R
PubMed Link: 34728605
Variant Present in the following documents:
  • Main text
  • 41398_2021_Article_1684.pdf
View BVdb publication page



Switched Aβ43 generation in familial Alzheimer's disease with presenilin 1 mutation.

Translational Psychiatry
Kakuda, Nobuto N; Takami, Mako M; Okochi, Masayasu M; Kasuga, Kensaku K; Ihara, Yasuo Y; Ikeuchi, Takeshi T
Publication Date: 2021-11-03

Variant appearance in text: PS1: G209R
PubMed Link: 34728605
Variant Present in the following documents:
  • Main text
  • 41398_2021_Article_1684.pdf
View BVdb publication page



Diagnostic utility of genetic testing in patients undergoing renal biopsy.

Cold Spring Harbor Molecular Case Studies
Benson, Katherine A KA; Murray, Susan L SL; Doyle, Ross R; Doyle, Brendan B; Dorman, Anthony M AM; Sadlier, Denise D; Brennan, Eoin E; Large, Margaret M; Cavalleri, Gianpiero L GL; Godson, Catherine C; Conlon, Peter J PJ
Publication Date: 2020-10

Variant appearance in text: PS1: 625G>A
PubMed Link: 32723786
Variant Present in the following documents:
  • Main text
  • MCS005462Ben.pdf
View BVdb publication page



APP, PSEN1, and PSEN2 Mutations in Asian Patients with Early-Onset Alzheimer Disease.

International Journal Of Molecular Sciences
Giau, Vo Van VV; Bagyinszky, Eva E; Youn, Young Chul YC; An, Seong Soo A SSA; Kim, SangYun S
Publication Date: 2019-09-25

Variant appearance in text: PSEN1: Gly209Arg
PubMed Link: 31557888
Variant Present in the following documents:
  • Main text
  • ijms-20-04757.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: G209R
PubMed Link: 31300647
Variant Present in the following documents:
  • 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3
View BVdb publication page



Genetic analyses of early-onset Alzheimer's disease using next generation sequencing.

Scientific Reports
Giau, Vo Van VV; Bagyinszky, Eva E; Yang, Young Soon YS; Youn, Young Chul YC; An, Seong Soo A SSA; Kim, Sang Yun SY
Publication Date: 2019-06-10

Variant appearance in text: PS1: Gly209Arg
PubMed Link: 31182772
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_44848.pdf
View BVdb publication page



The Whole Exome Sequencing Clarifies the Genotype- Phenotype Correlations in Patients with Early-Onset Dementia.

Aging And Disease
Xu, Yangqi Y; Liu, Xiaoli X; Shen, Junyi J; Tian, Wotu W; Fang, Rong R; Li, Binyin B; Ma, Jianfang J; Cao, Li L; Chen, Shengdi S; Li, Guanjun G; Tang, Huidong H
Publication Date: 2018-08

Variant appearance in text: PSEN1: G209R
PubMed Link: 30090657
Variant Present in the following documents:
  • Main text
  • ad-9-4-696.pdf
View BVdb publication page



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: Gly209Arg
PubMed Link: 27799753
Variant Present in the following documents:
  • Main text
  • cia-11-1467.pdf
View BVdb publication page



Novel PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction.

Bmc Neurology
An, Seong Soo A SS; Bagyinszky, Eva E; Kim, Hye Ryoun HR; Seok, Ju-Won JW; Shin, Hae-Won HW; Bae, SeunOh S; Kim, SangYun S; Youn, Young Chul YC
Publication Date: 2016-05-20

Variant appearance in text: PS1: G209R
PubMed Link: 27206484
Variant Present in the following documents:
  • Main text
  • 12883_2016_Article_591.pdf
View BVdb publication page



Conformational Changes in Transmembrane Domain 4 of Presenilin 1 Are Associated with Altered Amyloid-β 42 Production.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Tominaga, Aya A; Cai, Tetsuo T; Takagi-Niidome, Shizuka S; Iwatsubo, Takeshi T; Tomita, Taisuke T
Publication Date: 2016-01-27

Variant appearance in text: PS1: G209R
PubMed Link: 26818522
Variant Present in the following documents:
  • Main text
View BVdb publication page



Systematic review and meta-analysis of Japanese familial Alzheimer's disease and FTDP-17.

Journal Of Human Genetics
Kasuga, Kensaku K; Kikuchi, Masataka M; Tokutake, Takayoshi T; Nakaya, Akihiro A; Tezuka, Toshiyuki T; Tsukie, Tamao T; Hara, Norikazu N; Miyashita, Akinori A; Kuwano, Ryozo R; Ikeuchi, Takeshi T
Publication Date: 2015-05

Variant appearance in text: PSEN1: 625G>A; Gly209Arg
PubMed Link: 25694106
Variant Present in the following documents:
  • jhg201515x1.pdf
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: PS1: G209R
PubMed Link: 24729694
Variant Present in the following documents:
  • Main text
  • cia-9-535.pdf
View BVdb publication page



Altered γ-secretase activity in mild cognitive impairment and Alzheimer's disease.

Embo Molecular Medicine
Kakuda, Nobuto N; Shoji, Mikio M; Arai, Hiroyuki H; Furukawa, Katsutoshi K; Ikeuchi, Takeshi T; Akazawa, Kohei K; Takami, Mako M; Hatsuta, Hiroyuki H; Murayama, Shigeo S; Hashimoto, Yasuhiro Y; Miyajima, Masakazu M; Arai, Hajime H; Nagashima, Yu Y; Yamaguchi, Haruyasu H; Kuwano, Ryozo R; Nagaike, Kazuhiro K; Ihara, Yasuo Y; ,
Publication Date: 2012-04

Variant appearance in text: PS1: G209R
PubMed Link: 22354516
Variant Present in the following documents:
  • Main text
  • emmm0004-0344.pdf
  • emmm0004-0344-SD1.pdf
View BVdb publication page



Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research
Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH
Publication Date: 2009-03

Variant appearance in text: PSEN1: G209R
PubMed Link: 19139070
Variant Present in the following documents:
  • gkn1008_nar-01723-s-2008-File009.xls, sheet 4
View BVdb publication page