Kwangsik T. Nho

Divergent amyloid trajectories distinguish normal aging from Alzheimer's disease progression

This paper models Alzheimer's disease progression as a deviation from aging using longitudinal amyloid PET data and a self-supervised trajectory-learning framework, revealing distinct trajectories in early-stage aging and AD.

Cross-Regional Trajectory Analysis Reveals Distinct Temporal Progression of Shared Proteomic Programs in Alzheimer's Disease

The paper analyzes proteomic trajectories in Alzheimer's disease to show distinct temporal progression of shared molecular programs across brain regions.

MicroRNA-181 influences Alzheimer's risk by regulating neprilysin and microtubule-associated tau pathways, offering a novel target

The paper identifies miR-181's role in regulating neprilysin and tau pathways linked to Alzheimer's risk, suggesting it as a novel therapeutic target.

Network-based amyloid-beta pathology predicts subsequent cognitive decline in cognitively normal older adults

This study uses machine learning to show that integrating brain connectome data with amyloid-beta PET imaging improves prediction of cognitive decline in older adults.

Transcriptional Regulation of human NMNAT2: Insights from 3D Genome Sequencing and Bioinformatics

The paper identifies NMNAT2 regulatory elements and associated genes using 4C-seq and bioinformatics in human cells, showing correlations with mRNA levels in single-nuclei RNA-seq datasets.

A multi-ancestry polygenic risk score for Alzheimer disease is associated with cognitive decline, hippocampal atrophy and neuropathological hallmarks in diverse populations

This paper develops an APOE-independent polygenic risk score for Alzheimer's disease that shows associations with cognitive decline and neuropathological markers across diverse populations.

Hemispheric Asymmetry of Tau Pathology is Related to Asymmetric Amyloid Deposition in Alzheimer's Disease

The paper investigates whether hemispheric asymmetry in tau pathology in Alzheimer's disease is linked to reduced inter-hemispheric connectivity or asymmetric amyloid-beta distribution, finding a strong association with amyloid-beta laterality.

Multi-Omics Analysis for Identifying Cell-Type-Specific Druggable Targets in Alzheimer's Disease

This study identifies cell-type-specific druggable targets in Alzheimer's disease by integrating GWAS and eQTL data across multiple cell types and datasets.

LD-informed deep learning for Alzheimer's gene loci detection using WGS data

Deep-Block identifies AD-associated genetic loci using WGS data from ADSP, confirming known variants and discovering novel SNPs within top LD blocks.

Cell Type Differentiation Using Network Clustering Algorithms

This study compares clustering algorithms for cell type annotation in scRNA-seq data, finding that Infomap outperforms others in identifying cell types in PBMC and ROSMAP datasets.

Human microRNA-153-3p targets specific neuronal genes and is associated with the risk of Alzheimer's disease.

This study identifies miR-153-3p as a regulator of neuronal genes and shows its association with Alzheimer's disease risk and pathogenesis.

Discovering Genetic Signatures Associated with Alzheimer's Disease in Tiled Whole Genome Sequence Data: Results from the Artificial Intelligence for Alzheimer's Disease (AI4AD) Consortium

The paper uses tiled whole genome sequence data to identify genetic signatures associated with Alzheimer's disease using machine learning methods.

Brain Cell-based Genetic Subtyping and Drug Repositioning for Alzheimer Disease

This study identifies genetic subtypes of Alzheimer's Disease using cell-based gene networks and polygenic risk scores, then repositions existing drugs for AD treatment.

Deciphering the tissue-specific functional effect of Alzheimer risk SNPs with deep genome annotation

This study investigates how Alzheimer's risk SNPs affect chromatin functions and how their genomic context influences these effects.

Genetic Variants of Phospholipase C-γ 2 Confer Altered Microglial Phenotypes and Differential Risk for Alzheimers Disease

The paper identifies a PLCG2 variant, PLCG2M28L, associated with increased Alzheimer's disease risk and altered microglial phenotypes, while another variant, PLCG2P522R, reduces disease risk in a mouse model.

Genetic variants associated with longitudinal cognitive performance in older breast cancer patients and controls

This study identifies genetic variants associated with cognitive decline in older breast cancer patients compared to controls using longitudinal cognitive data.

Alzheimer Disease Heterogeneity Explained by Polygenic Risk Scores Derived from Brain Transcriptomic Profiles

This study uses polygenic risk scores derived from brain transcriptomic profiles to explain clinical heterogeneity in Alzheimer's disease.

Amyloid pathology reduces ELP3 expression and tRNA modifications leading to impaired proteostasis in Alzheimer's disease models

Genome-wide association study of brain biochemical phenotypes reveals distinct genetic architecture of Alzheimer's Disease related proteins

This study performs a genome-wide association study of brain biochemical phenotypes in Alzheimer's patients, identifying novel genetic loci and highlighting distinct genetic architectures for AD-related proteins.

APOE Genotype-specific Methylation Patterns are Linked to Alzheimer Disease Pathology and Estrogen Response

This study identifies APOE genotype-specific methylation patterns in blood and brain linked to Alzheimer's disease and estrogen response.

The 677C>T variant in methylenetetrahydrofolate reductase causes morphological and functional cerebrovascular deficits in mice

This study creates a mouse model with the MTHFR 677C>T variant and shows it causes cerebrovascular deficits, supporting its use in preclinical research on vascular dementia.

Comprehensive genetic analysis of the human lipidome identifies novel loci controlling lipid homeostasis with links to coronary artery disease

This study identifies 667 genetic loci associated with lipid species and links 186 of them to coronary artery disease through integrative lipidomics and genomics.

Deep trans-omic network fusion reveals altered synaptic network in Alzheimer's Disease

The paper introduces MoFNet, a deep neural network that integrates multi-omic data to identify functional subnetworks associated with Alzheimer's Disease, showing replication in an independent cohort.

Deep learning-based identification of genetic variants: Application to Alzheimer's disease classification

The paper introduces SWAT-CNN, a deep learning method for identifying AD-associated SNPs and developing a classification model, achieving an AUC of 0.82.

Single Nuclei Transcriptome Reveals Perturbed Brain Vascular Molecules in Alzheimer's Disease

The paper uses single nucleus RNA sequencing to analyze brain vascular cells in Alzheimer's disease, identifying molecular changes and interactions between vascular and astrocytic cells at the blood-brain barrier.

Genome Wide Analysis Across Alzheimer's Disease Endophenotypes: Main Effects and Stage Specific Interactions

The paper performs genome-wide association analysis on Alzheimer's disease endophenotypes to identify main effects and stage-specific genetic interactions.

Causal relationship of cerebrospinal fluid biomarkers with the risk of Alzheimer’s disease: A two-sample Mendelian randomization study

This study uses Mendelian randomization to assess if CSF biomarkers for amyloid and tau pathology causally influence Alzheimer’s disease risk, finding a protective effect for Aβ and a risk increase for p-tau.

INPP5D expression is associated with risk for Alzheimer's disease and induced by plaque-associated microglia

This study shows INPP5D expression increases in Alzheimer's disease, particularly in plaque-associated microglia, and suggests it may be a risk factor and therapeutic target.

Deep learning detection of informative features in tau PET for Alzheimer' s disease classification

This paper develops a deep learning framework using tau PET scans to classify Alzheimer's disease and identifies key brain regions associated with the disease.

Serum Metabolites Associate with Brain Amyloid Beta Deposition, Cognitive Dysfunction, and Alzheimers Disease Progression

The paper identifies serum metabolites associated with brain amyloid-beta deposition, cognitive dysfunction, and progression to Alzheimer's disease.