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Evangelos Nizamis on Muck Rack

Evangelos Nizamis

As seen in: Nature, BioRxiv
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Articles

A common 19 bp APOE enhancer deletion is protective against Alzheimer’s disease in African Americans - Nature Communications

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By Evangelos Nizamis, Eli Kaufman, Eugene Lin, Suman Jayadev, Ellen M. Wijsman, Elizabeth Blue, Sana Chintamen
| Nature Verified
Abstract The APOE-ε4/ε4 genotype is the strongest genetic risk factor for sporadic Alzheimer’s disease, though the relative risk is diminished in individuals with African ancestry. Through analysis of phased APOE alleles, we identify a 19 bp deletion approximately 1.1 kb distal to the APOE 3′UTR in a SPI1 microglial transcription factor binding site.
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Structural and genetic diversity in the secreted mucins, MUC5AC and MUC5B

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By Elizabeth Plender, Timofey Prodanov, Evangelos Nizamis
| BioRxiv
Abstract The secreted mucins MUC5AC and MUC5B play critical defensive roles in airway pathogen entrapment and mucociliary clearance by encoding large glycoproteins with variable number tandem repeats (VNTRs). These polymorphic and degenerate protein coding VNTRs make the loci difficult to investigate with short reads. We characterize the structural diversity of MUC5AC and MUC5B by long-read sequencing and assembly of 206 human and 20 nonhuman primate (NHP) haplotypes.
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