Derek Michael Dykxhoorn

This study uses cardiac organoids derived from patient iPSCs to show that LMNA haploinsufficiency causes early fibrotic signaling, which can be targeted by antifibrotic drugs.

This paper investigates the impact of an ancestry-specific ABCA7 deletion on lipid homeostasis in Alzheimer's disease, showing disrupted lipid regulation in neurons.

This study uses eHiCA to identify regulatory interactions at the PICALM-EED locus, showing distinct chromatin interactions for SNPs within a segregating haplotype.

The paper identifies ancestry-specific chromatin architecture differences in Alzheimer's Disease using Hi-C and ATAC-seq data from African and European ancestry individuals.

The paper investigates Merlin's role in NF2-associated Schwann cell proliferation using a hiPSC model and identifies new interaction partners, Arkadia and SKOR2, that mediate SMAD-dependent TGFβ signaling.

The paper identifies an African-origin haplotype that reduces AD risk in APOEε4 carriers by 75% and explores its molecular mechanisms through sequencing and methylation analysis.

The paper investigates how two KCNQ3 mutations impair channel function and shows that polyunsaturated fatty acids can restore wild-type function in these mutations.

This study conducts a GWAS in Peruvians, identifying a novel AD risk locus in NFASC and replicating known loci, highlighting the importance of diverse populations in AD genetics.

This study identifies miR-423-5p as a regulator of cocaine-induced smooth muscle cell contraction by targeting Cacna2d2, leading to increased intracellular calcium and contractility.

The paper shows that ELA-associated increased chromatin accessibility and expression of APOE4 in astrocytes contribute to higher AD risk in APOE4/4 carriers.

This paper identifies an O2-independent HIF-1 mechanism regulated by GH/IGF1/SST signaling that controls cardiomyocyte growth through metabolic shifts.

The paper identifies differential regulatory control of APOEε4 on African versus European haplotypes through enhancer activity and promoter interactions analyses.

This study investigates the role of cadherin-11 in autism by analyzing its expression and function in mouse models and human tissue, finding altered expression and synaptic changes in autism-associated conditions.

The paper finds that APOEϵ4 expression is higher in European ancestry carriers and linked to A1 reactive astrocytes, potentially explaining higher AD risk in this group.

This study identifies βPix as a regulator of LDLR stability by sequestering IDOL, preventing LDLR degradation, and reducing LDL-C uptake in Alport Syndrome models.