Associated Papers
MFSD7c functions as a transporter of choline at the blood-brain barrier.
Nguyen XTA et al.
Cell Research, 2024
Structural and molecular basis of choline uptake into the brain by FLVCR2.
Cater RJ et al.
Biorxiv : the Preprint Server for Biology, 2023
Expanding the clinical spectrum of Fowler syndrome: Three siblings with survival into adulthood and systematic review of the literature.
De Luca C et al.
Clinical Genetics, 2020
Variability of non-lethal Fowler syndrome phenotype associated with FLVCR2 variants.
Al-Murshedi F et al.
Clinical Genetics, 2020
Deficiency of MFSD7c results in microcephaly-associated vasculopathy in Fowler syndrome.
Kalailingam P et al.
The Journal of Clinical Investigation, 2020
Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy.
Kvarnung M et al.
Clinical Genetics, 2016
The Fowler syndrome-associated protein FLVCR2 is an importer of heme.
Duffy SP et al.
Molecular and Cellular Biology, 2010
High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy.
Thomas S et al.
Human Mutation, 2010
Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome).
Meyer E et al.
American Journal of Human Genetics, 2010
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