63 research outputs found
Preliminary Report: Missense mutations in the APOL gene family are associated with end stage kidney disease risk previously attributed to the MYH9 gene
MYH9 has been proposed as a major genetic risk locus for a spectrum of
non-diabetic end stage kidney disease (ESKD). We use recently released
sequences from the 1000 Genomes Project to identify two western African
specific missense mutations (S342G and I384M) in the neighbouring APOL1 gene,
and demonstrate that these are more strongly associated with ESKD than
previously reported MYH9 variants. We also show that the distribution of these
risk variants in African populations is consistent with the pattern of African
ancestry ESKD risk previously attributed to the MYH9 gene. Additional
associations were also found among other members of the APOL gene family, and
we propose that ESKD risk is caused by western African variants in members of
the APOL gene family, which evolved to confer protection against pathogens,
such as Trypanosoma.Comment: 25 pages, 6 figure
Transgenic expression of human APOL1 risk variants in podocytes induces kidney disease in mice
Transgenic expression of human APOL1 risk variants in podocytes induces kidney disease in mice
Apolipoprotein L6, induced in atherosclerotic lesions, promotes apoptosis and blocks beclin 1-dependent autophagy in atherosclerotic cells
Extracellular vesicles influence the pulmonary arterial extracellular matrix in congenital diaphragmatic hernia
Evaluation of Sericin as a Fetal Bovine Serum-Replacing Cryoprotectant During Freezing of Human Mesenchymal Stromal Cells and Human Osteoblast-Like Cells
Extracellular Vesicles Attenuate Nitrofen-Mediated Human Pulmonary Artery Endothelial Dysfunction: Implications for Congenital Diaphragmatic Hernia
Apolipoprotein L2 contains a BH3-like domain but it does not behave as a BH3-only protein
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