Article

Roles for RERE in lymphatic endothelial cell proliferation and survival, and human cystic lymphatic malformations

2024-03-27

Abstract excerpt

<h4>ABSTRACT</h4> Human congenital lymphatic anomalies (LAs) arise due to defects in lymphatic development. During a genetic study of fetuses with LAs, we identified a heterozygous pathogenic truncating variant in RERE in a fetus with a cystic lymphatic malformation (CLM). RERE is a transcriptional regulator which interacts with several key lymphangiogenic factors, including Notch and Coup-TFII. RERE also modula...

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Literature Corpus work: 59ed841e-1a12-5cf3-a63a-ab06d2b250ea
DOI: 10.1101/2024.03.24.586490

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