PSEN1 c.998A>G ;(p.D333G)

Variant ID: 14-73678519-A-G

NM_000021.3(PSEN1):c.998A>G;(p.D333G)

This variant was identified in 18 publications

View GRCh38 version.




Publications:


Presenilin-1 (PSEN1) Mutations: Clinical Phenotypes beyond Alzheimer's Disease.

International Journal Of Molecular Sciences
Yang, Youngsoon Y; Bagyinszky, Eva E; An, Seong Soo A SSA
Publication Date: 2023-05-08

Variant appearance in text: PSEN1: D333G
PubMed Link: 37176125
Variant Present in the following documents:
  • Main text
  • ijms-24-08417.pdf
View BVdb publication page



Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature
Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D
Publication Date: 2023-02-08

Variant appearance in text: N/A
PubMed Link: 36755093
Variant Present in the following documents:
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: Asp333Gly
PubMed Link: 36142879
Variant Present in the following documents:
  • Main text
  • ijms-23-10970.pdf
View BVdb publication page



The Potential of Gamma Secretase as a Therapeutic Target for Cardiac Diseases.

Journal Of Personalized Medicine
Sen, Sujoita S; Hallee, Logan L; Lam, Chi Keung CK
Publication Date: 2021-12-04

Variant appearance in text: PS1: Asp333Gly
PubMed Link: 34945766
Variant Present in the following documents:
  • Main text
  • jpm-11-01294.pdf
View BVdb publication page



Systems genetics analysis defines importance of TMEM43/LUMA for cardiac- and metabolic-related pathways.

Physiological Genomics
Gu, Qingqing Q; Xu, Fuyi F; Orgil, Buyan-Ochir BO; Khuchua, Zaza Z; Munkhsaikhan, Undral U; Johnson, Jason N JN; Alberson, Neely R NR; Pierre, Joseph F JF; Black, Dennis D DD; Dong, Deli D; Brennan, Jaclyn A JA; Cathey, Brianna M BM; Efimov, Igor R IR; Towbin, Jeffrey A JA; Purevjav, Enkhsaikhan E; Lu, Lu L
Publication Date: 2022-01-01

Variant appearance in text: PSEN1: Asp333Gly
PubMed Link: 34766515
Variant Present in the following documents:
  • Main text
View BVdb publication page



Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances
Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X
Publication Date: 2020-07

Variant appearance in text: PSEN1: 998A>G; Asp333Gly
PubMed Link: 32832622
Variant Present in the following documents:
  • aba1773_Data_file_S1.xlsx, sheet 2
View BVdb publication page



Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions.

Nature Communications
Fahed, Akl C AC; Wang, Minxian M; Homburger, Julian R JR; Patel, Aniruddh P AP; Bick, Alexander G AG; Neben, Cynthia L CL; Lai, Carmen C; Brockman, Deanna D; Philippakis, Anthony A; Ellinor, Patrick T PT; Cassa, Christopher A CA; Lebo, Matthew M; Ng, Kenney K; Lander, Eric S ES; Zhou, Alicia Y AY; Kathiresan, Sekar S; Khera, Amit V AV
Publication Date: 2020-08-20

Variant appearance in text: PS1: Asp333Gly
PubMed Link: 32820175
Variant Present in the following documents:
  • 41467_2020_17374_MOESM1_ESM.pdf
View BVdb publication page



Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2.

Neurobiology Of Disease
Hsu, Simon S; Pimenova, Anna A AA; Hayes, Kimberly K; Villa, Juan A JA; Rosene, Matthew J MJ; Jere, Madhavi M; Goate, Alison M AM; Karch, Celeste M CM
Publication Date: 2020-06

Variant appearance in text: PSEN1: D333G
PubMed Link: 32087291
Variant Present in the following documents:
  • Main text
  • NIHMS1588025-supplement-Supplemental_Table.xlsx, sheet 1
  • nihms-1588025.pdf
View BVdb publication page



Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07

Variant appearance in text: PSEN1: D333G; rs121917809
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Getting to the Heart of Alzheimer Disease.

Circulation Research
Tublin, Joshua M JM; Adelstein, Jeremy M JM; Del Monte, Federica F; Combs, Colin K CK; Wold, Loren E LE
Publication Date: 2019-01-04

Variant appearance in text: PSEN1: Asp333Gly
PubMed Link: 30605407
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: PSEN1: 998A>G; Asp333Gly
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25

Variant appearance in text: PSEN1: D333G; rs121917809
PubMed Link: 28440294
Variant Present in the following documents:
  • srep46105-s2.xls, sheet 8
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: D333G
PubMed Link: 27930341
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutations in presenilin 2 and its implications in Alzheimer's disease and other dementia-associated disorders.

Clinical Interventions In Aging
Cai, Yan Y; An, Seong Soo A SS; Kim, SangYun S
Publication Date: 2015

Variant appearance in text: PSEN1: D333G
PubMed Link: 26203236
Variant Present in the following documents:
  • Main text
  • cia-10-1163.pdf
View BVdb publication page



The E280A presenilin mutation reduces voltage-gated sodium channel levels in neuronal cells.

Neuro-Degenerative Diseases
Kim, Doo Yeon DY; Wertz, Mary H MH; Gautam, Vivek V; D'Avanzo, Carla C; Bhattacharyya, Raja R; Kovacs, Dora M DM
Publication Date: 2014

Variant appearance in text: PS1: D333G
PubMed Link: 24217025
Variant Present in the following documents:
  • Main text
View BVdb publication page



Protein aggregates and novel presenilin gene variants in idiopathic dilated cardiomyopathy.

Circulation
Gianni, Davide D; Li, Airong A; Tesco, Giuseppina G; McKay, Kenneth M KM; Moore, John J; Raygor, Kunal K; Rota, Marcello M; Gwathmey, Judith K JK; Dec, G William GW; Aretz, Thomas T; Leri, Annarosa A; Semigran, Marc J MJ; Anversa, Piero P; Macgillivray, Thomas E TE; Tanzi, Rudolph E RE; del Monte, Federica F
Publication Date: 2010-03-16

Variant appearance in text: PSEN1: D333G
PubMed Link: 20194882
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutations of presenilin genes in dilated cardiomyopathy and heart failure.

American Journal Of Human Genetics
Li, Duanxiang D; Parks, Sharie B SB; Kushner, Jessica D JD; Nauman, Deirdre D; Burgess, Donna D; Ludwigsen, Susan S; Partain, Julie J; Nixon, Randal R RR; Allen, Charles N CN; Irwin, Robert P RP; Jakobs, Petra M PM; Litt, Michael M; Hershberger, Ray E RE
Publication Date: 2006-12

Variant appearance in text: PSEN1: D333G
PubMed Link: 17186461
Variant Present in the following documents:
  • Main text
View BVdb publication page