PSEN1 c.626G>A ;(p.G209E)

Variant ID: 14-73659429-G-A

NM_000021.3(PSEN1):c.626G>A;(p.G209E)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: PSEN1: 626G>A; Gly209Glu
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



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: Gly209Glu
PubMed Link: 36142879
Variant Present in the following documents:
  • Main text
  • ijms-23-10970.pdf
View BVdb publication page



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: Gly209Glu
PubMed Link: 33188256
Variant Present in the following documents:
  • Main text
  • 41598_2020_76794_MOESM2_ESM.pdf
  • 41598_2020_Article_76794.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: G209E
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: Gly209Glu
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: G209E
PubMed Link: 30090657
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: G209E
PubMed Link: 30045758
Variant Present in the following documents:
  • Main text
  • 13195_2018_Article_400.pdf
View BVdb publication page



Cerebral amyloid angiopathy in Down syndrome and sporadic and autosomal-dominant Alzheimer's disease.

Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association
Carmona-Iragui, María M; Balasa, Mircea M; Benejam, Bessy B; Alcolea, Daniel D; Fernández, Susana S; Videla, Laura L; Sala, Isabel I; Sánchez-Saudinós, María Belén MB; Morenas-Rodriguez, Estrella E; Ribosa-Nogué, Roser R; Illán-Gala, Ignacio I; Gonzalez-Ortiz, Sofía S; Clarimón, Jordi J; Schmitt, Frederick F; Powell, David K DK; Bosch, Beatriz B; Lladó, Albert A; Rafii, Michael S MS; Head, Elizabeth E; Molinuevo, José Luis JL; Blesa, Rafael R; Videla, Sebastián S; Lleó, Alberto A; Sánchez-Valle, Raquel R; Fortea, Juan J
Publication Date: 2017-11

Variant appearance in text: PSEN1: G209E
PubMed Link: 28463681
Variant Present in the following documents:
  • Main text
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: Gly209Glu
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: G209E
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: G209E
PubMed Link: 26818522
Variant Present in the following documents:
  • Main text
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: Gly209Glu
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: Gly209Glu
PubMed Link: 24729694
Variant Present in the following documents:
  • Main text
  • cia-9-535.pdf
View BVdb publication page