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Article

Inactivating mutations in Drosha mediate vascular abnormalities similar to hereditary hemorrhagic telangiectasia.

Science signaling - 16 Jan 2018

Jiang Xuan, Wooderchak-Donahue Whitney L, McDonald Jamie, Ghatpande Prajakta, Baalbaki Mai, Sandoval Melissa, Hart Daniel, Clay Hilary, Coughlin Shaun, Lagna Giorgio, Bayrak-Toydemir Pinar, Hata Akiko

Abstract excerpt

The transforming growth factor-β (TGF-β) and bone morphogenetic protein (BMP) family of cytokines critically regulates vascular morphogenesis and homeostasis. Impairment of TGF-β or BMP signaling leads to heritable vascular disorders, including hereditary hemorrhagic telangiectasia (HHT). Drosha, a key enzyme for microRNA (miRNA) biogenesis, also regulates the TGF-β and BMP pathway through interaction with Smads...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29339534
DOI: 10.1126/scisignal.aan6831
PMCID: PMC5811261

Genes

DROSHA

Variants

Provenance

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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