Associated Papers
FLVCR2: structure, substrate transport, and emerging roles in human disease.
Huang L et al.
Life Sciences, 2026
Identification of Fowler syndrome (hydrocephaly-hydranencephaly proliferative vasculopathy) in a pregnancy following single euploid embryo transfer.
Lazarov V et al.
Journal of Assisted Reproduction and Genetics, 2025
A hypomorphic FLVCR2 variant resulting in moderate transport deficiency causes hydranencephaly syndrome with brain calcifications.
Scala M et al.
European Journal of Human Genetics : Ejhg, 2025
Molecular mechanism of choline and ethanolamine transport in humans.
Ri K et al.
Nature, 2024
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
Deficiency of MFSD7c results in microcephaly-associated vasculopathy in Fowler syndrome.
Kalailingam P et al.
The Journal of Clinical Investigation, 2020
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease's mechanism.
Radio FC et al.
Molecular Genetics & Genomic Medicine, 2018
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