CST3 c.73G>C ;(p.A25P)

Variant ID: 20-23618427-C-G

NM_000099.2(CST3):c.73G>C;(p.A25P)

This variant was identified in 16 publications

View GRCh38 version.




Publications:


Complexity of Sex Differences and Their Impact on Alzheimer's Disease.

Biomedicines
Kadlecova, Marion M; Freude, Kristine K; Haukedal, Henriette H
Publication Date: 2023-04-24

Variant appearance in text: rs1064039
PubMed Link: 37238932
Variant Present in the following documents:
  • biomedicines-11-01261.pdf
View BVdb publication page



Preclinical safety studies of human embryonic stem cell-derived retinal pigment epithelial cells for the treatment of age-related macular degeneration.

Stem Cells Translational Medicine
Petrus-Reurer, Sandra S; Kumar, Pankaj P; Padrell Sánchez, Sara S; Aronsson, Monica M; André, Helder H; Bartuma, Hammurabi H; Plaza Reyes, Alvaro A; Nandrot, Emeline F EF; Kvanta, Anders A; Lanner, Fredrik F
Publication Date: 2020-08

Variant appearance in text: rs1064039
PubMed Link: 32319201
Variant Present in the following documents:
  • SCT3-9-936-s001.pdf
View BVdb publication page



Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Publication Date: 2020-04-20

Variant appearance in text: rs1064039
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Association between cystatin C gene polymorphism and the prevalence of white matter lesion in elderly healthy subjects.

Scientific Reports
Maniwa, Kyohei K; Yano, Shozo S; Sheikh, Abdullah Md AM; Onoda, Keiichi K; Mitaki, Shingo S; Isomura, Minoru M; Mishima, Seiji S; Yamaguchi, Shuhei S; Nabika, Toru T; Nagai, Atsushi A
Publication Date: 2020-03-13

Variant appearance in text: rs1064039
PubMed Link: 32170118
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_61383.pdf
View BVdb publication page



The Interplay of Diet Quality and Alzheimer's Disease Genetic Risk Score in Relation to Cognitive Performance Among Urban African Americans.

Nutrients
Hossain, Sharmin S; Beydoun, May A MA; Kuczmarski, Marie F MF; Tajuddin, Salman S; Evans, Michele K MK; Zonderman, Alan B AB
Publication Date: 2019-09-11

Variant appearance in text: rs1064039
PubMed Link: 31514322
Variant Present in the following documents:
  • Main text
  • nutrients-11-02181.pdf
View BVdb publication page



Prospective Application of Activity-Based Proteomic Profiling in Vision Research-Potential Unique Insights into Ocular Protease Biology and Pathology.

International Journal Of Molecular Sciences
Peng, Hui H; Hulleman, John D JD
Publication Date: 2019-08-08

Variant appearance in text: rs1064039
PubMed Link: 31398819
Variant Present in the following documents:
  • Main text
  • ijms-20-03855.pdf
View BVdb publication page



Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology
Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H
Publication Date: 2018-11-29

Variant appearance in text: rs1064039
PubMed Link: 30497413
Variant Present in the following documents:
  • 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Unraveling the genes implicated in Alzheimer's disease.

Biomedical Reports
Giri, Mohan M; Shah, Abhilasha A; Upreti, Bibhuti B; Rai, Jayanti Chamling JC
Publication Date: 2017-08

Variant appearance in text: rs1064039
PubMed Link: 28781776
Variant Present in the following documents:
  • Main text
View BVdb publication page



Low statistical power in biomedical science: a review of three human research domains.

Royal Society Open Science
Dumas-Mallet, Estelle E; Button, Katherine S KS; Boraud, Thomas T; Gonon, Francois F; Munafò, Marcus R MR
Publication Date: 2017-02

Variant appearance in text: rs1064039
PubMed Link: 28386409
Variant Present in the following documents:
  • rsos160254supp3.xlsx, sheet 6
  • rsos160254supp3.xlsx, sheet 1
View BVdb publication page



Replication Validity of Initial Association Studies: A Comparison between Psychiatry, Neurology and Four Somatic Diseases.

Plos One
Dumas-Mallet, Estelle E; Button, Katherine K; Boraud, Thomas T; Munafo, Marcus M; Gonon, François F
Publication Date: 2016

Variant appearance in text: rs1064039
PubMed Link: 27336301
Variant Present in the following documents:
  • pone.0158064.s002.xlsx, sheet 5
View BVdb publication page



Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.

Plos One
Yang, Liping L; Cui, Hui H; Yin, Xiaobei X; Dou, Hongliang H; Zhao, Lin L; Chen, Ningning N; Zhang, Jinlu J; Zhang, Huirong H; Li, Genlin G; Ma, Zhizhong Z
Publication Date: 2015

Variant appearance in text: rs1064039
PubMed Link: 26496393
Variant Present in the following documents:
  • pone.0140684.s004.xlsx, sheet 5
View BVdb publication page



Genetics of late-onset Alzheimer's disease: update from the alzgene database and analysis of shared pathways.

International Journal Of Alzheimer'S Disease
Olgiati, Paolo P; Politis, Antonis M AM; Papadimitriou, George N GN; De Ronchi, Diana D; Serretti, Alessandro A
Publication Date: 2011

Variant appearance in text: rs1064039
PubMed Link: 22191060
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association between CST3 rs2424577 polymorphism and corpulence related phenotypes during lifetime in populations of European ancestry.

Obesity Facts
Hooton, Henri H; Dubern, Beatrice B; Henegar, Corneliu C; Paternoster, Lavinia L; Nohr, Ellen A EA; Alili, Rohia R; Rousseau, Francis F; Pelloux, Veronique V; Galan, Pilar P; Hercberg, Serge S; Arner, Peter P; Sørensen, Thorkild I A TI; Clément, Karine K
Publication Date: 2011

Variant appearance in text: rs1064039
PubMed Link: 21577020
Variant Present in the following documents:
  • Main text
View BVdb publication page



Neuroimaging measures as endophenotypes in Alzheimer's disease.

International Journal Of Alzheimer'S Disease
Braskie, Meredith N MN; Ringman, John M JM; Thompson, Paul M PM
Publication Date: 2011-03-31

Variant appearance in text: rs1064039
PubMed Link: 21547229
Variant Present in the following documents:
  • Main text
  • IJAD2011-490140.pdf
View BVdb publication page



Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals.

Human Molecular Genetics
Corneveaux, Jason J JJ; Myers, Amanda J AJ; Allen, April N AN; Pruzin, Jeremy J JJ; Ramirez, Manuel M; Engel, Anzhelika A; Nalls, Michael A MA; Chen, Kewei K; Lee, Wendy W; Chewning, Kendria K; Villa, Stephen E SE; Meechoovet, Hunsar B HB; Gerber, Jill D JD; Frost, Danielle D; Benson, Hollie L HL; O'Reilly, Sean S; Chibnik, Lori B LB; Shulman, Joshua M JM; Singleton, Andrew B AB; Craig, David W DW; Van Keuren-Jensen, Kendall R KR; Dunckley, Travis T; Bennett, David A DA; De Jager, Philip L PL; Heward, Christopher C; Hardy, John J; Reiman, Eric M EM; Huentelman, Matthew J MJ
Publication Date: 2010-08-15

Variant appearance in text: rs1064039
PubMed Link: 20534741
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evaluation of the potential excess of statistically significant findings in published genetic association studies: application to Alzheimer's disease.

American Journal Of Epidemiology
Kavvoura, Fotini K FK; McQueen, Matthew B MB; Khoury, Muin J MJ; Tanzi, Rudolph E RE; Bertram, Lars L; Ioannidis, John P A JP
Publication Date: 2008-10-15

Variant appearance in text: rs1064039
PubMed Link: 18779388
Variant Present in the following documents:
  • Main text
View BVdb publication page