PSEN1 c.417G>C ;(p.M139I)

Variant ID: 14-73640352-G-C

NM_000021.3(PSEN1):c.417G>C;(p.M139I)

This variant was identified in 16 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: Met139Ile
PubMed Link: 36142879
Variant Present in the following documents:
  • Main text
  • ijms-23-10970.pdf
View BVdb publication page



PSEN1 c.1292C<A Variant and Early-Onset Alzheimer's Disease: A Scoping Review.

Frontiers In Aging Neuroscience
Orozco-Barajas, Maribel M; Oropeza-Ruvalcaba, Yulisa Y; Canales-Aguirre, Alejandro A AA; Sánchez-González, Victor J VJ
Publication Date: 2022

Variant appearance in text: PSEN1: M139I
PubMed Link: 35959289
Variant Present in the following documents:
  • Main text
  • fnagi-14-860529.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: M139I
PubMed Link: 32235595
Variant Present in the following documents:
  • Main text
  • ijms-21-02381.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: Met139Ile
PubMed Link: 31557888
Variant Present in the following documents:
  • Main text
  • ijms-20-04757.pdf
View BVdb publication page



Liquid versus tissue biopsy for detecting acquired resistance and tumor heterogeneity in gastrointestinal cancers.

Nature Medicine
Parikh, Aparna R AR; Leshchiner, Ignaty I; Elagina, Liudmila L; Goyal, Lipika L; Levovitz, Chaya C; Siravegna, Giulia G; Livitz, Dimitri D; Rhrissorrakrai, Kahn K; Martin, Elizabeth E EE; Van Seventer, Emily E EE; Hanna, Megan M; Slowik, Kara K; Utro, Filippo F; Pinto, Christopher J CJ; Wong, Alicia A; Danysh, Brian P BP; de la Cruz, Ferran Fece FF; Fetter, Isobel J IJ; Nadres, Brandon B; Shahzade, Heather A HA; Allen, Jill N JN; Blaszkowsky, Lawrence S LS; Clark, Jeffrey W JW; Giantonio, Bruce B; Murphy, Janet E JE; Nipp, Ryan D RD; Roeland, Eric E; Ryan, David P DP; Weekes, Colin D CD; Kwak, Eunice L EL; Faris, Jason E JE; Wo, Jennifer Y JY; Aguet, François F; Dey-Guha, Ipsita I; Hazar-Rethinam, Mehlika M; Dias-Santagata, Dora D; Ting, David T DT; Zhu, Andrew X AX; Hong, Theodore S TS; Golub, Todd R TR; Iafrate, A John AJ; Adalsteinsson, Viktor A VA; Bardelli, Alberto A; Parida, Laxmi L; Juric, Dejan D; Getz, Gad G; Corcoran, Ryan B RB
Publication Date: 2019-09

Variant appearance in text: PSEN1: M139I
PubMed Link: 31501609
Variant Present in the following documents:
  • NIHMS1535793-supplement-1.xlsx, sheet 5
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: M139I
PubMed Link: 31300647
Variant Present in the following documents:
  • 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3
View BVdb publication page



Genetic analysis of neurodegenerative diseases in a pathology cohort.

Neurobiology Of Aging
Blauwendraat, Cornelis C; Pletnikova, Olga O; Geiger, Joshua T JT; Murphy, Natalie A NA; Abramzon, Yevgeniya Y; Rudow, Gay G; Mamais, Adamantios A; Sabir, Marya S MS; Crain, Barbara B; Ahmed, Sarah S; Rosenthal, Liana S LS; Bakker, Catherine C CC; Faghri, Faraz F; Chia, Ruth R; Ding, Jinhui J; Dawson, Ted M TM; Pantelyat, Alexander A; Albert, Marilyn S MS; Nalls, Mike A MA; Resnick, Susan M SM; Ferrucci, Luigi L; Cookson, Mark R MR; Hillis, Argye E AE; Troncoso, Juan C JC; Scholz, Sonja W SW
Publication Date: 2019-04

Variant appearance in text: PSEN1: M139I
PubMed Link: 30528841
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: M139I
PubMed Link: 30045758
Variant Present in the following documents:
  • Main text
  • 13195_2018_Article_400.pdf
View BVdb publication page



A genetic screen of the mutations in the Korean patients with early-onset Alzheimer's disease.

Clinical Interventions In Aging
An, Seong Soo SS; Park, Sun Ah SA; Bagyinszky, Eva E; Bae, Sun Oh SO; Kim, Yoon-Jeong YJ; Im, Ji Young JY; Park, Kyung Won KW; Park, Kee Hyung KH; Kim, Eun-Joo EJ; Jeong, Jee Hyang JH; Kim, Jong Hun JH; Han, Hyun Jeong HJ; Choi, Seong Hye SH; Kim, SangYun S
Publication Date: 2016

Variant appearance in text: PSEN1: M139I
PubMed Link: 28008242
Variant Present in the following documents:
  • Main text
  • cia-11-1817.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: Met139Ile
PubMed Link: 27799753
Variant Present in the following documents:
  • Main text
  • cia-11-1467.pdf
View BVdb publication page



Neuropathology of Autosomal Dominant Alzheimer Disease in the National Alzheimer Coordinating Center Database.

Journal Of Neuropathology And Experimental Neurology
Ringman, John M JM; Monsell, Sarah S; Ng, Denise W DW; Zhou, Yan Y; Nguyen, Andy A; Coppola, Giovanni G; Van Berlo, Victoria V; Mendez, Mario F MF; Tung, Spencer S; Weintraub, Sandra S; Mesulam, Marek-Marsel MM; Bigio, Eileen H EH; Gitelman, Darren R DR; Fisher-Hubbard, Amanda O AO; Albin, Roger L RL; Vinters, Harry V HV
Publication Date: 2016-03

Variant appearance in text: PSEN1: M139I
PubMed Link: 26888304
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rapidly progressive Alzheimer's disease features distinct structures of amyloid-β.

Brain : A Journal Of Neurology
Cohen, Mark L ML; Kim, Chae C; Haldiman, Tracy T; ElHag, Mohamed M; Mehndiratta, Prachi P; Pichet, Termsarasab T; Lissemore, Frances F; Shea, Michelle M; Cohen, Yvonne Y; Chen, Wei W; Blevins, Janis J; Appleby, Brian S BS; Surewicz, Krystyna K; Surewicz, Witold K WK; Sajatovic, Martha M; Tatsuoka, Curtis C; Zhang, Shulin S; Mayo, Ping P; Butkiewicz, Mariusz M; Haines, Jonathan L JL; Lerner, Alan J AJ; Safar, Jiri G JG
Publication Date: 2015-04

Variant appearance in text: PSEN1: M139I
PubMed Link: 25688081
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: Met139Ile
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: Met139Ile
PubMed Link: 24729694
Variant Present in the following documents:
  • Main text
  • cia-9-535.pdf
View BVdb publication page



Clinical, biological, and imaging features of monogenic Alzheimer's Disease.

Biomed Research International
Pilotto, Andrea A; Padovani, Alessandro A; Borroni, Barbara B
Publication Date: 2013

Variant appearance in text: PSEN1: M139I
PubMed Link: 24377094
Variant Present in the following documents:
  • Main text
  • BMRI2013-689591.pdf
View BVdb publication page



Increased in vivo amyloid-β42 production, exchange, and loss in presenilin mutation carriers.

Science Translational Medicine
Potter, Rachel R; Patterson, Bruce W BW; Elbert, Donald L DL; Ovod, Vitaliy V; Kasten, Tom T; Sigurdson, Wendy W; Mawuenyega, Kwasi K; Blazey, Tyler T; Goate, Alison A; Chott, Robert R; Yarasheski, Kevin E KE; Holtzman, David M DM; Morris, John C JC; Benzinger, Tammie L S TL; Bateman, Randall J RJ
Publication Date: 2013-06-12

Variant appearance in text: PSEN1: Met139Ile
PubMed Link: 23761040
Variant Present in the following documents:
  • Main text
View BVdb publication page