Increased endothelial sclerostin caused by elevated DSCAM mediates multiple trisomy 21 phenotypes.

doi:10.1172/JCI167811

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Article

Increased endothelial sclerostin caused by elevated DSCAM mediates multiple trisomy 21 phenotypes.

The Journal of clinical investigation - 3 Jun 2024

McKean David M, Zhang Qi, Narayan Priyanka, Morton Sarah U, Strohmenger Viktoria, Tang Vi T, McAllister Sophie, Sharma Ananya, Quiat Daniel, Reichart Daniel, DeLaughter Daniel M, Wakimoto Hiroko, Gorham Joshua M, Brown Kemar, McDonough Barbara, Willcox Jon A, Jang Min Young, DePalma Steven R, Ward Tarsha, Kim Richard, Cleveland John D, Seidman J G, Seidman Christine E

Abstract excerpt

Trisomy 21 (T21), a recurrent aneuploidy occurring in 1:800 births, predisposes to congenital heart disease (CHD) and multiple extracardiac phenotypes. Despite a definitive genetic etiology, the mechanisms by which T21 perturbs development and homeostasis remain poorly understood. We compared the transcriptome of CHD tissues from 49 patients with T21 and 226 with euploid CHD (eCHD). We resolved cell lineages that...

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PMID: 38828726
DOI: 10.1172/JCI167811
PMCID: PMC11142749

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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