PSEN1 c.415A>T ;(p.M139L)

Variant ID: 14-73640350-A-T

NM_000021.3(PSEN1):c.415A>T;(p.M139L)

This variant was identified in 9 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: Met139Leu
PubMed Link: 36142879
Variant Present in the following documents:
  • Main text
  • ijms-23-10970.pdf
View BVdb publication page



Neural Networks in Autosomal Dominant Alzheimer's Disease: Insights From Functional Magnetic Resonance Imaging Studies.

Frontiers In Aging Neuroscience
Qiu, Qiongqiong Q
Publication Date: 2022

Variant appearance in text: PSEN1: M139L
PubMed Link: 35928996
Variant Present in the following documents:
  • Main text
  • fnagi-14-903269.pdf
View BVdb publication page



Phosphorylated Tau 181 Serum Levels Predict Alzheimer's Disease in the Preclinical Stage.

Frontiers In Aging Neuroscience
Qin, Wei W; Li, Fangyu F; Jia, Longfei L; Wang, Qi Q; Li, Ying Y; Wei, Yiping Y; Li, Yan Y; Jin, Hongmei H; Jia, Jianping J
Publication Date: 2022

Variant appearance in text: PSEN1: M139L
PubMed Link: 35769604
Variant Present in the following documents:
  • Main text
  • fnagi-14-900773.pdf
  • Data_Sheet_1.pdf
View BVdb publication page



Microtube Array Membrane Encapsulated Cell Therapy: A Novel Platform Technology Solution for Treatment of Alzheimer's Disease.

International Journal Of Molecular Sciences
Chen, Shu-Mei SM; Hsu, Tsung-Chin TC; Chew, Chee-Ho CH; Huang, Wan-Ting WT; Chen, Amanda Lin AL; Lin, Yung-Feng YF; Eddarkaoui, Sabiha S; Buee, Luc L; Chen, Chien-Chung CC
Publication Date: 2022-06-20

Variant appearance in text: PSEN1: M139L
PubMed Link: 35743295
Variant Present in the following documents:
  • ijms-23-06855.pdf
View BVdb publication page



The role of genetics in neurodegenerative dementia: a large cohort study in South China.

Npj Genomic Medicine
Jiao, Bin B; Liu, Hui H; Guo, Lina L; Xiao, Xuewen X; Liao, Xinxin X; Zhou, Yafang Y; Weng, Ling L; Zhou, Lu L; Wang, Xin X; Jiang, Yaling Y; Yang, Qijie Q; Zhu, Yuan Y; Zhou, Lin L; Zhang, Weiwei W; Wang, Junling J; Yan, Xinxiang X; Li, Jinchen J; Tang, Beisha B; Shen, Lu L
Publication Date: 2021-08-13

Variant appearance in text: PSEN1: 415A>T; M139L
PubMed Link: 34389718
Variant Present in the following documents:
  • Main text
  • 41525_2021_Article_235.pdf
View BVdb publication page



Blood neuro-exosomal synaptic proteins predict Alzheimer's disease at the asymptomatic stage.

Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association
Jia, Longfei L; Zhu, Min M; Kong, Chaojun C; Pang, Yana Y; Zhang, Heng H; Qiu, Qiongqiong Q; Wei, Cuibai C; Tang, Yi Y; Wang, Qi Q; Li, Ying Y; Li, Tingting T; Li, Fangyu F; Wang, Qigeng Q; Li, Yan Y; Wei, Yiping Y; Jia, Jianping J
Publication Date: 2021-01

Variant appearance in text: PSEN1: M139L
PubMed Link: 32776690
Variant Present in the following documents:
  • ALZ-17-49.pdf
View BVdb publication page



Gene mutations associated with early onset familial Alzheimer's disease in China: An overview and current status.

Molecular Genetics & Genomic Medicine
Qin, Qi Q; Yin, Yunsi Y; Wang, Yan Y; Lu, Yuanyuan Y; Tang, Yi Y; Jia, Jianping J
Publication Date: 2020-10

Variant appearance in text: PSEN1: 415A>T
PubMed Link: 32767553
Variant Present in the following documents:
  • Main text
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: M139L
PubMed Link: 32235595
Variant Present in the following documents:
  • Main text
  • ijms-21-02381.pdf
View BVdb publication page



Effects of gene mutation and disease progression on representative neural circuits in familial Alzheimer's disease.

Alzheimer'S Research & Therapy
Quan, Meina M; Zhao, Tan T; Tang, Yi Y; Luo, Ping P; Wang, Wei W; Qin, Qi Q; Li, Tingting T; Wang, Qigeng Q; Fang, Jiliang J; Jia, Jianping J
Publication Date: 2020-01-14

Variant appearance in text: PS1: M139L
PubMed Link: 31937364
Variant Present in the following documents:
  • Main text
  • 13195_2019_Article_572.pdf
View BVdb publication page