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Article

Loss of BRCC3 deubiquitinating enzyme leads to abnormal angiogenesis and is associated with syndromic moyamoya.

American journal of human genetics - 10 Jun 2011

Miskinyte Snaigune, Butler Matthew G, Hervé Dominique, Sarret Catherine, Nicolino Marc, Petralia Jacob D, Bergametti Francoise, Arnould Minh, Pham Van N, Gore Aniket V, Spengos Konstantinos, Gazal Steven, Woimant France, Steinberg Gary K, Weinstein Brant M, Tournier-Lasserve Elisabeth

Abstract excerpt

Moyamoya is a cerebrovascular angiopathy characterized by a progressive stenosis of the terminal part of the intracranial carotid arteries and the compensatory development of abnormal and fragile collateral vessels, also called moyamoya vessels, leading to ischemic and hemorrhagic stroke. Moyamoy...

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Source

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Identifiers

PMID: 21596366
DOI: 10.1016/j.ajhg.2011.04.017
PMCID: PMC3113251

Genes

BRCC3
BRCA1
MTCP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21596366-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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