| MFSD7C protects hemolysis-induced lung impairments by inhibiting ferroptosis. | MFSD7C protects hemolysis-induced lung impairments by inhibiting ferroptosis.
Wang H, You X, Wang J, Chen X, Gao Y, Wang M, Zhang W, Zhang J, Yu Y, Han B, Qi M, Liu X, Lou H, Dong T., Free PMC Article | 09/25/2024 |
| Molecular mechanism of choline and ethanolamine transport in humans. | Molecular mechanism of choline and ethanolamine transport in humans.
Ri K, Weng TH, Claveras Cabezudo A, Jösting W, Zhang Y, Bazzone A, Leong NCP, Welsch S, Doty RT, Gursu G, Lim TJY, Schmidt SL, Abkowitz JL, Hummer G, Wu D, Nguyen LN, Safarian S., Free PMC Article | 06/26/2024 |
| Structural and molecular basis of choline uptake into the brain by FLVCR2. | Structural and molecular basis of choline uptake into the brain by FLVCR2.
Cater RJ, Mukherjee D, Gil-Iturbe E, Erramilli SK, Chen T, Koo K, Santander N, Reckers A, Kloss B, Gawda T, Choy BC, Zhang Z, Katewa A, Larpthaveesarp A, Huang EJ, Mooney SWJ, Clarke OB, Yee SW, Giacomini KM, Kossiakoff AA, Quick M, Arnold T, Mancia F., | 06/6/2024 |
| MFSD7c functions as a transporter of choline at the blood-brain barrier. | MFSD7c functions as a transporter of choline at the blood-brain barrier.
Nguyen XTA, Le TNU, Nguyen TQ, Thi Thuy Ha H, Artati A, Leong NCP, Nguyen DT, Lim PY, Susanto AV, Huang Q, Fam L, Leong LN, Bonne I, Lee A, Granadillo JL, Gooch C, Yu D, Huang H, Soong TW, Chang MW, Wenk MR, Adamski J, Cazenave-Gassiot A, Nguyen LN., Free PMC Article | 03/6/2024 |
| Variability of non-lethal Fowler syndrome phenotype associated with FLVCR2 variants. | Variability of non-lethal Fowler syndrome phenotype associated with FLVCR2 variants.
Al-Murshedi F, Mirza H, Al-Saegh A, Al-Nabhani M, Al-Shabibi S, Baawain S, Al-Futaisi A, Al-Shehhi W, Al-Maawali A. | 08/21/2021 |
| Expanding the clinical spectrum of Fowler syndrome: Three siblings with survival into adulthood and systematic review of the literature. | Expanding the clinical spectrum of Fowler syndrome: Three siblings with survival into adulthood and systematic review of the literature.
De Luca C, Crow YJ, Rodero M, Rice GI, Ahmed M, Lammens M, De Cock P, Van Esch H, Lagae L, Rochtus A. | 08/21/2021 |
| MFSD7C switches mitochondrial ATP synthesis to thermogenesis in response to heme. | MFSD7C switches mitochondrial ATP synthesis to thermogenesis in response to heme.
Li Y, Ivica NA, Dong T, Papageorgiou DP, He Y, Brown DR, Kleyman M, Hu G, Chen WW, Sullivan LB, Del Rosario A, Hammond PT, Vander Heiden MG, Chen J., Free PMC Article | 10/24/2020 |
| Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy | Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy.
Kvarnung M, Taylan F, Nilsson D, Albåge M, Nordenskjöld M, Anderlid BM, Nordgren A, Syk Lundberg E. | 10/22/2016 |
| Mutations in FLVCR2 gene are responsible for Proliferative vasculopathy and Hydranencephaly-hydrocephaly syndrome. FLVCR2 transporter is gatekeeper for the controlled entry of calcium into cell, and involves the regulation of calcium metabolism. | Genetics and molecular biology of brain calcification.
Deng H, Zheng W, Jankovic J. | 03/12/2016 |
| FLVCR2 mutation is associated with Hydranencephaly. | Hydranencephaly in a newborn with a FLVCR2 mutation and prenatal exposure to cocaine.
Soster EL, Tucker M, Escobar LF, Vance GH. | 10/3/2015 |
| High-throughput sequence data identified mutations and a large deletion in the FLVCR2 gene casuing lethal cerebral vasculopathy. | High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy.
Thomas S, Encha-Razavi F, Devisme L, Etchevers H, Bessieres-Grattagliano B, Goudefroye G, Elkhartoufi N, Pateau E, Ichkou A, Bonnière M, Marcorelle P, Parent P, Manouvrier S, Holder M, Laquerrière A, Loeuillet L, Roume J, Martinovic J, Mougou-Zerelli S, Gonzales M, Meyer V, Wessner M, Feysot CB, Nitschke P, Leticee N, Munnich A, Lyonnet S, Wookey P, Gyapay G, Foliguet B, Vekemans M, Attié-Bitach T. | 01/29/2011 |
| Results report the cellular function of FLVCR2 as an importer of heme. | The Fowler syndrome-associated protein FLVCR2 is an importer of heme.
Duffy SP, Shing J, Saraon P, Berger LC, Eiden MV, Wilde A, Tailor CS., Free PMC Article | 11/27/2010 |
| Direct sequencing of candidate genes within the target interval in chromosome 14q24.3 revealed five different germline mutations in FLVCR2 in five families with Fowler syndrome. | Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome).
Meyer E, Ricketts C, Morgan NV, Morris MR, Pasha S, Tee LJ, Rahman F, Bazin A, Bessières B, Déchelotte P, Yacoubi MT, Al-Adnani M, Marton T, Tannahill D, Trembath RC, Fallet-Bianco C, Cox P, Williams D, Maher ER., Free PMC Article | 04/19/2010 |