Associated Papers
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S5
Missense mutations of the ephrin receptor EPHA1 associated with Alzheimer's disease disrupt receptor signaling functions.
Matsumoto M et al.
The Journal of Biological Chemistry, 2025
A Novel Rare PSEN2 Val226Ala in PSEN2 in a Korean Patient with Atypical Alzheimer's Disease, and the Importance of PSEN2 5th Transmembrane Domain (TM5) in AD Pathogenesis.
Yang Y et al.
International Journal of Molecular Sciences, 2024
39273625 (PubMed )
Supplement: ijms-25-09678-s001.zip › ijms-3093212-supplementary.pdf
PSEN1 His214Asn Mutation in a Korean Patient with Familial EOAD and the Importance of Histidine-Tryptophan Interactions in TM-4 Stability.
Bagyinszky E et al.
International Journal of Molecular Sciences, 2023
38203287 (PubMed )
Supplement: ijms-25-00116-s001.zip › ijms-2769595-supplementary.pdf
Patient with PSEN1 Glu318Gly and Other Possible Disease Risk Mutations, Diagnosed with Early Onset Alzheimer's Disease.
Yang Y et al.
International Journal of Molecular Sciences, 2023
37895139 (PubMed )
Supplement: ijms-24-15461-s001.zip › ijms-2642793-supplementary.pdf
Identification of PCSK9-like human gene knockouts using metabolomics, proteomics, and whole-genome sequencing in a consanguineous population.
Belkadi A et al.
Cell Genomics, 2023
36777185 (PubMed )
Supplement: mmc5.xlsx › Table_S4
PSEN2 Thr421Met Mutation in a Patient with Early Onset Alzheimer's Disease.
Yang Y et al.
International Journal of Molecular Sciences, 2022
Dementia-related genetic variants in an Italian population of early-onset Alzheimer's disease.
Bartoletti-Stella A et al.
Frontiers in Aging Neuroscience, 2022
36133075 (PubMed )
Supplement: Table_1.XLSX › AD_004_N
A Pathogenic Presenilin-1 Val96Phe Mutation from a Malaysian Family.
Bagyinszky E et al.
Brain Sciences, 2021
34679393 (PubMed )
Supplement: brainsci-11-01328-s001.zip › brainsci-1394263-supplementary.pdf
Exome sequencing revealed PDE11A as a novel candidate gene for early-onset Alzheimer's disease.
Qin W et al.
Human Molecular Genetics, 2021
33835157 (PubMed )
Supplement: supplementary_tables_ddab090.xlsx › Supplementary_Table_1
Investigating APOE, APP-Aβ metabolism genes and Alzheimer's disease GWAS hits in brain small vessel ischemic disease.
Blumenau S et al.
Scientific Reports, 2020
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A2-A04Y-01A.domain
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