Endothelin receptor B (EDNRB) is a G-protein-coupled receptor with seven transmembrane
domains which is required for the development of melanocytes and enteric neurons. Mice …

Mutations in the genes encoding endothelin receptor-B (Ednrb) and its ligand endothelin-3 (Edn3)
affect the development of two neural crest-derived cell types, melanocytes and enteric …

The functional interpretation of genome-wide association studies (GWAS) is challenging
due to the cell-type-dependent influences of genetic variants. Here, we generated …

Several physical and chemical signals from the extracellular environment are known to be
transduced into changes in gene expression through multiple step pathways; however, …

Hirschsprung disease (HSCR) is a multigenic, congenital disorder that affects 1 in 5,000
newborns and is characterized by the absence of neural crest–derived enteric ganglia in the …

Diacylglycerol acyltransferase 2 (DGAT2) catalyzes the final step in triglyceride (TG) synthesis
and has been shown to play a role in regulating hepatic very-low-density lipoprotein (…

APOL1 risk alleles associate with chronic kidney disease in African Americans, but the
mechanisms remain to be fully understood. We show that APOL1 risk alleles activate protein …

Lipotoxicity was recently reported in several forms of kidney disease, including focal segmental
glomerulosclerosis (FSGS). Susceptibility to FSGS in African Americans is associated …

Apolipoprotein L1 (APOL1) genetic variants G1 and G2, compared to the common allele G0,
are major risk factors for non-diabetic kidney disease in African descent populations. …

In response to various types of injury, melanocyte stem cells (McSCs) located in the bulge of
hair follicles can regenerate mature melanocytes for hair and skin pigmentation. How …