Murim Choi

Mtf2 Safeguards Naïve Pluripotency by Restricting Trophectoderm Competence

This study identifies Mtf2 as an epigenetic barrier that maintains naive pluripotency by restricting trophectoderm competence in embryonic stem cells.

Functional dissection of SPOP on the amino acid level reveals a comprehensive functional landscape of variants during tumorigenesis

The paper uses deep mutational screening to analyze SPOP variants, identifying loss-of-function variants enriched in prostate cancer and revealing their structural and genetic characteristics.

Targeted degradation of SARS-CoV-2 via the autophagy-lysosome system using chemical mimetics of the N-degron pathway

This study shows that chemical mimetics of the N-degron pathway, called ATLs, can degrade SARS-CoV-2 via autophagy-lysosome system in cells and animals.

Inhibiting EZH2 complements steroid effects in Duchenne muscular dystrophy

The paper investigates the role of EZH2 in Duchenne muscular dystrophy and shows that inhibiting EZH2 improves muscle phenotype in Dmd mutant mice when combined with glucocorticoids.

Integrated analysis of COVID-19 multi-omics data for eQTLs reveals genetic mechanisms underlying disease severity

The paper identifies eQTLs associated with COVID-19 disease severity and progression using multi-omics data from Korean patients, revealing genetic mechanisms involving HLA genes and cytokine regulation.

Increased inflammatory signature in myeloid cells of non-small cell lung cancer patients with high clonal hematopoiesis burden

The paper examines the relationship between clonal hematopoiesis burden and immune response in NSCLC patients, finding higher CHIP prevalence in cancer patients and inflammatory pathway enrichment in myeloid cells with severe CHIP.

Identification of genes conferring individual-level variation responsible for metabolic dysfunction-associated steatohepatitis using single-cell eQTL analysis

The paper identifies genes responsible for metabolic dysfunction-associated steatohepatitis using single-cell eQTL analysis in liver biopsies from MASLD patients and controls.

Systemic CD8+ T cell effector signature predicts prognosis of lung cancer immunotherapy

The paper identifies a CD8+ T cell effector signature linked to lung cancer immunotherapy prognosis using single-cell RNA sequencing and eQTL analysis.

Single-cell analysis of human diversity in circulating immune cells

The paper presents AIDA, a diverse single-cell RNA-seq atlas of immune cells, revealing sub-continental diversity impacts on immune cell properties and identifying functional genetic variants.

Distinct prefrontal projections conversely orchestrate social competition and hierarchy

The paper identifies distinct mPFC projections that encode social winning and losing behaviors and shows Pou3f1 expression in mPFC-VTA neurons regulates social hierarchy.

Deciphering the genetic links between NAFLD and co-occurring conditions using a liver gene regulatory network

The paper constructs a liver-specific gene regulatory network to identify genetic links between NAFLD and co-occurring conditions, revealing shared regulatory mechanisms.

Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome

The paper identifies somatic uniparental disomy in EFL1 as a mechanism that mitigates severe SDS by allowing milder variants to dominate in bone marrow cells.

Disease-specific eQTL screening reveals an anti-fibrotic effect of AGXT2 in nonalcoholic fatty liver disease

The paper identifies AGXT2 as a gene with an anti-fibrotic effect in NAFLD through eQTL screening and functional validation.

Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population

The paper identifies pathogenic variants in 57.5% of 553 undiagnosed neurodevelopmental patients, revealing a high proportion of recessive variants and their potential for carrier screening.

Oncogenic effects of germline mutations in lysosomal storage disease genes

This study identifies germline mutations in lysosomal storage disease genes as risk factors for cancer, showing increased cancer risk and earlier onset in mutation carriers.

Comprehensive genetic analysis by whole exome sequencing in 352 Korean pediatric patients with unknown neurodevelopmental disorders

This study uses whole exome sequencing to diagnose 352 Korean pediatric patients with undiagnosed neurodevelopmental disorders, identifying pathogenic variants in 57.4% of cases.