Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy.

Authors:
Guey S; Hervé D; Kossorotoff M; Ha G; Aloui C and 10 more

Journal:
Hum Genomics

Publication Year: 2023

DOI:
10.1186/s40246-023-00471-x

PMCID:
PMC10026487

PMID:
36941667

Journal Information

Full Title: Hum Genomics

Abbreviation: Hum Genomics

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Genetics

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

Transparency Score
3/6
50.0% Transparent
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Evidence found in paper:

"Declarations Informed consentAll included probands and family members provided their written informed consent for genetic analysis as requested by the French law, and for publication of data. Competing interestsThe authors declare that they have no competing interests. Competing interests The authors declare that they have no competing interests."

Evidence found in paper:

"Funding This study has been supported by INSERM, the Leducq foundation (Transatlantic Network of excellence grant “ReVAMP-Recalibrating Mechanotransduction in Vascular Malformations 2022–2027") and the French Tanguy Moyamoya Disease patient’s association. Dr Guey was a recipient of Fondation pour la Recherche Médicale PhD fellowship."

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Open Access
Paper is freely available to read
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Last Updated: Aug 05, 2025