|
rs1163242089
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report a case of EOAD having a pathogenic PSEN1 (Trp165Cys) confirmed with in silico and in vitro predictions.
|
31391004 |
2019 |
|
rs140501902
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, a heterozygous p.Arg71Trp mutation in PSEN2 with an uncertain pathogenic nature was identified in a patient with neuropathologically confirmed AD.
|
31127772 |
2019 |
|
rs1426802434
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, a heterozygous p.Arg71Trp mutation in PSEN2 with an uncertain pathogenic nature was identified in a patient with neuropathologically confirmed AD.
|
31127772 |
2019 |
|
rs200347552
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, a heterozygous p.Arg71Trp mutation in PSEN2 with an uncertain pathogenic nature was identified in a patient with neuropathologically confirmed AD.
|
31127772 |
2019 |
|
rs200576075
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, a heterozygous p.Arg71Trp mutation in PSEN2 with an uncertain pathogenic nature was identified in a patient with neuropathologically confirmed AD.
|
31127772 |
2019 |
|
rs543578531
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, a heterozygous p.Arg71Trp mutation in PSEN2 with an uncertain pathogenic nature was identified in a patient with neuropathologically confirmed AD.
|
31127772 |
2019 |
|
rs63750569
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The genotype PSEN1 G206S appeared to correlate with the phenotype of EOAD with pure cognitive problems.
|
30814350 |
2019 |
|
rs63750921
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Novel amyloid precursor protein mutation, Val669Leu ("Seoul APP"), in a Korean patient with early-onset Alzheimer's disease.
|
31623876 |
2019 |
|
rs63751122
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The "Australian" (L723P) mutation located in the C-termini of APP TM domain is associated with autosomal-dominant, early onset Alzheimer's disease.
|
31180641 |
2019 |
|
rs63751484
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report a case of EOAD having a pathogenic PSEN1 (Trp165Cys) confirmed with in silico and in vitro predictions.
|
31391004 |
2019 |
|
rs74315408
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Early-onset Alzheimer's disease patient with prion <i>(PRNP)</i> p.Val180Ile mutation.
|
31410005 |
2019 |
|
rs923630119
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, a heterozygous p.Arg71Trp mutation in PSEN2 with an uncertain pathogenic nature was identified in a patient with neuropathologically confirmed AD.
|
31127772 |
2019 |
|
rs1057518919
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found genetic etiology in 6 patients: 2 mutations in the PSEN1 gene (p.Pro264Ser and p.Phe105Cys) in the EOAD patients, C9orf72 expansion and MAPT (c.1920+16C>T), mutation in the FTD group of patients as well as MAPT (c.1920+16C>T) mutation and likely pathogenic mutation in the TYROBP mutation (p.Asp32Asn) in patients with unspecified diagnosis.
|
29930232 |
2018 |
|
rs533813519
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A pathogenic <i>PSEN2</i> p.His169Asn mutation associated with early-onset Alzheimer's disease.
|
30104866 |
2018 |
|
rs200169735
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel presenilin 1 mutation (F388L) identified in a Chinese family with early-onset Alzheimer's disease.
|
27836335 |
2017 |
|
rs1223904774
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Using this approach, we generated human induced pluripotent stem cells with heterozygous and homozygous dominant early onset Alzheimer's disease-causing mutations in amyloid precursor protein (APP(Swe)) and presenilin 1 (PSEN1(M146V)) and derived cortical neurons, which displayed genotype-dependent disease-associated phenotypes.
|
27120160 |
2016 |
|
rs143061887
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Using a control exome data set of 96 ethnically matched neurodegenerative disease controls (Parkinson's disease), we identified only 1 variant (PSEN2 p.T18M) (1%), demonstrating a significantly higher mutational burden in the EOAD group (p > 0.0001).
|
26522186 |
2016 |
|
rs2391191
|
|
|
0.010 |
GeneticVariation |
BEFREE |
An exonic missense mutation in the G72 (DAOA) gene (rs2391191, P = 1.94 × 10(-4), P FDR = 9.34 × 10(-3)) was found to modify AOO in PSEN1 E280A AD.
|
26949549 |
2016 |
|
rs367709245
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Additionally, we document an intronic 6 base pair (bp) deletion located 83 bp downstream of exon 17 (rs367709245, IVS17 83-88delAAGTAT), which has a nonsignificantly increased minor allele frequency in our sEOAD cohort (0.006) compared to LOAD (0.002) and controls (0.002).
|
26803359 |
2016 |
|
rs63750306
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Using this approach, we generated human induced pluripotent stem cells with heterozygous and homozygous dominant early onset Alzheimer's disease-causing mutations in amyloid precursor protein (APP(Swe)) and presenilin 1 (PSEN1(M146V)) and derived cortical neurons, which displayed genotype-dependent disease-associated phenotypes.
|
27120160 |
2016 |
|
rs63750487
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Similar to L226F, the patient with L226R also developed the first symptoms in his 30s, but EOAD was diagnosed in his 40s.
|
27785004 |
2016 |
|
rs1208508997
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease.
|
24880964 |
2014 |
|
rs1347757721
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here we describe a previously unrecognized sequence change (c.376G>A) in PSEN2 in an EOAD patient and her likewise affected mother.
|
24844686 |
2014 |
|
rs1396086494
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Clinical characterization of a presenilin 1 mutation (F177S) in a family with very early-onset Alzheimer's disease in the third decade of life.
|
23850332 |
2014 |
|
rs63749806
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Clinical characterization of a presenilin 1 mutation (F177S) in a family with very early-onset Alzheimer's disease in the third decade of life.
|
23850332 |
2014 |