PSEN1 c.714C>G ;(p.I238M)

Variant ID: 14-73659517-C-G

NM_000021.3(PSEN1):c.714C>G;(p.I238M)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


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: I238M
PubMed Link: 35959289
Variant Present in the following documents:
  • Main text
  • fnagi-14-860529.pdf
View BVdb publication page



Updated Review of the Evidence Supporting the Medical and Legal Use of NeuroQuant® and NeuroGage® in Patients With Traumatic Brain Injury.

Frontiers In Human Neuroscience
Ross, David E DE; Seabaugh, John J; Seabaugh, Jan M JM; Barcelona, Justis J; Seabaugh, Daniel D; Wright, Katherine K; Norwind, Lee L; King, Zachary Z; Graham, Travis J TJ; Baker, Joseph J; Lewis, Tanner T
Publication Date: 2022

Variant appearance in text: PSEN1: I238M
PubMed Link: 35463926
Variant Present in the following documents:
  • fnhum-16-715807.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: I238M
PubMed Link: 31300647
Variant Present in the following documents:
  • 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3
View BVdb publication page



Perspectives on ethnic and racial disparities in Alzheimer's disease and related dementias: Update and areas of immediate need.

Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association
Babulal, Ganesh M GM; Quiroz, Yakeel T YT; Albensi, Benedict C BC; Arenaza-Urquijo, Eider E; Astell, Arlene J AJ; Babiloni, Claudio C; Bahar-Fuchs, Alex A; Bell, Joanne J; Bowman, Gene L GL; Brickman, Adam M AM; Chételat, Gaël G; Ciro, Carrie C; Cohen, Ann D AD; Dilworth-Anderson, Peggye P; Dodge, Hiroko H HH; Dreux, Simone S; Edland, Steven S; Esbensen, Anna A; Evered, Lisbeth L; Ewers, Michael M; Fargo, Keith N KN; Fortea, Juan J; Gonzalez, Hector H; Gustafson, Deborah R DR; Head, Elizabeth E; Hendrix, James A JA; Hofer, Scott M SM; Johnson, Leigh A LA; Jutten, Roos R; Kilborn, Kerry K; Lanctôt, Krista L KL; Manly, Jennifer J JJ; Martins, Ralph N RN; Mielke, Michelle M MM; Morris, Martha Clare MC; Murray, Melissa E ME; Oh, Esther S ES; Parra, Mario A MA; Rissman, Robert A RA; Roe, Catherine M CM; Santos, Octavio A OA; Scarmeas, Nikolaos N; Schneider, Lon S LS; Schupf, Nicole N; Sikkes, Sietske S; Snyder, Heather M HM; Sohrabi, Hamid R HR; Stern, Yaakov Y; Strydom, Andre A; Tang, Yi Y; Terrera, Graciela Muniz GM; Teunissen, Charlotte C; Melo van Lent, Debora D; Weinborn, Michael M; Wesselman, Linda L; Wilcock, Donna M DM; Zetterberg, Henrik H; O'Bryant, Sid E SE; ,
Publication Date: 2019-02

Variant appearance in text: PSEN1: I238M
PubMed Link: 30555031
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive Screening for Disease Risk Variants in Early-Onset Alzheimer's Disease Genes in African Americans Identifies Novel PSEN Variants.

Journal Of Alzheimer'S Disease : Jad
N'Songo, Aurelie A; Carrasquillo, Minerva M MM; Wang, Xue X; Nguyen, Thuy T; Asmann, Yan Y; Younkin, Steven G SG; Allen, Mariet M; Duara, Ranjan R; Custo, Maria T Greig MT; Graff-Radford, Neill N; Ertekin-Taner, Nilüfer N
Publication Date: 2017

Variant appearance in text: PSEN1: Ile238Met
PubMed Link: 28106563
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Sun, Linfeng L; Zhou, Rui R; Yang, Guanghui G; Shi, Yigong Y
Publication Date: 2017-01-24

Variant appearance in text: PS1: I238M
PubMed Link: 27930341
Variant Present in the following documents:
  • Main text
View BVdb publication page



Widespread white matter and conduction defects in PSEN1-related spastic paraparesis.

Neurobiology Of Aging
Soosman, Steffan K SK; Joseph-Mathurin, Nelly N; Braskie, Meredith N MN; Bordelon, Yvette M YM; Wharton, David D; Casado, Maria M; Coppola, Giovanni G; McCallum, Holly H; Nuwer, Marc M; Coutin-Churchman, Pedro P; Apostolova, Liana G LG; Benzinger, Tammie T; Ringman, John M JM
Publication Date: 2016-11

Variant appearance in text: PSEN1: I238M
PubMed Link: 27614114
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evaluating pathogenic dementia variants in posterior cortical atrophy.

Neurobiology Of Aging
Carrasquillo, Minerva M MM; Barber, Imelda I; Lincoln, Sarah J SJ; Murray, Melissa E ME; Camsari, Gamze Balci GB; Khan, Qurat Ul Ain QUA; Nguyen, Thuy T; Ma, Li L; Bisceglio, Gina D GD; Crook, Julia E JE; Younkin, Steven G SG; Dickson, Dennis W DW; Boeve, Bradley F BF; Graff-Radford, Neill R NR; Morgan, Kevin K; Ertekin-Taner, Nilüfer N
Publication Date: 2016-01

Variant appearance in text: PSEN1: I238M
PubMed Link: 26507310
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: Ile238Met
PubMed Link: 25217249
Variant Present in the following documents:
  • Main text
  • 11910_2014_Article_499.pdf
View BVdb publication page



A novel PSEN1 mutation (I238M) associated with early-onset Alzheimer's disease in an African-American woman.

Journal Of Alzheimer'S Disease : Jad
Ting, Simon Kang Seng SK; Benzinger, Tammie T; Kepe, Vladimir V; Fagan, Anne A; Coppola, Giovanni G; Porter, Verna V; Hecimovic, Silva S; Chakraverty, Suma S; Alvarez-Retuerto, Ana Isabel AI; Goate, Alison A; Ringman, John M JM
Publication Date: 2014

Variant appearance in text: PSEN1: I238M
PubMed Link: 24413619
Variant Present in the following documents:
  • Main text
View BVdb publication page



C9ORF72 repeat expansions and other FTD gene mutations in a clinical AD patient series from Mayo Clinic.

American Journal Of Neurodegenerative Disease
Wojtas, Aleksandra A; Heggeli, Kristin A KA; Finch, Nicole N; Baker, Matt M; Dejesus-Hernandez, Mariely M; Younkin, Steven G SG; Dickson, Dennis W DW; Graff-Radford, Neill R NR; Rademakers, Rosa R
Publication Date: 2012

Variant appearance in text: PSEN1: 714C>G; Ile238Met
PubMed Link: 23383383
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comparison of clinical characteristics between familial and non-familial early onset Alzheimer's disease.

Journal Of Neurology
Joshi, Aditi A; Ringman, John M JM; Lee, Albert S AS; Juarez, Kevin O KO; Mendez, Mario F MF
Publication Date: 2012-10

Variant appearance in text: PSEN1: I238M
PubMed Link: 22460587
Variant Present in the following documents:
  • Main text
View BVdb publication page



Biochemical, neuropathological, and neuroimaging characteristics of early-onset Alzheimer's disease due to a novel PSEN1 mutation.

Neuroscience Letters
Ringman, John M JM; Gylys, Karen H KH; Medina, Luis D LD; Fox, Michelle M; Kepe, Vladimir V; Flores, Deborah L DL; Apostolova, Liana G LG; Barrio, Jorge R JR; Small, Gary G; Silverman, Daniel H DH; Siu, Erin E; Cederbaum, Stephen S; Hecimovic, Silva S; Malnar, Martina M; Chakraverty, Suma S; Goate, Alison M AM; Bird, Thomas D TD; Leverenz, James B JB
Publication Date: 2011-01-10

Variant appearance in text: PS1: I238M
PubMed Link: 21094210
Variant Present in the following documents:
  • Main text
View BVdb publication page