PMC Articles for MedGen (Select 442763) - PMC

Published in final edited form as: Dev Med Child Neurol. 2008 May; 50(5): 346–352. Published online 2008 Mar 19. doi: 10.1111/j.1469-8749.2008.02053.x

PMCID:: PMC2715943

Abstract Article PDF–697K

Select item 97721156.

CIC missense variants contribute to susceptibility for spina bifida

Xiao Han, Xuanye Cao, Vanessa Aguiar-Pulido, Wei Yang, Menuka Karki, Paula Andrea Pimienta Ramirez, Robert M. Cabrera, Ying Linda Lin, Bogdan J. Wlodarczyk, Gary M. Shaw, M. Elizabeth Ross, Cuilian Zhang, Richard H. Finnell, Yunping Lei

Hum Mutat. Author manuscript; available in PMC 2023 Dec 1.

Published in final edited form as: Hum Mutat. 2022 Dec; 43(12): 2021–2032. Published online 2022 Sep 12. doi: 10.1002/humu.24460

PMCID:: PMC9772115

Abstract Article PDF–1.9M

Select item 76911027.

First case report of cerebral folate deficiency caused by a novel mutation of FOLR1 gene in a Chinese patient

Ciliu Zhang, Xiaolu Deng, Yafei Wen, Fang He, Fei Yin, Jing Peng

BMC Med Genet. 2020; 21: 235. Published online 2020 Nov 26. doi: 10.1186/s12881-020-01162-3

PMCID:: PMC7691102

Abstract Article PDF–839K

Select item 103396088.

Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature

Ana Potic, Stefanie Perrier, Tijana Radovic, Svetlana Gavrilovic, Jelena Ostojic, Luan T. Tran, Isabelle Thiffault, Tomi Pastinen, Raphael Schiffmann, Geneviève Bernard

Orphanet J Rare Dis. 2023; 18: 187. Published online 2023 Jul 13. doi: 10.1186/s13023-023-02802-6

PMCID:: PMC10339608

Abstract Article PDF–5.1M

Select item 112279229.

Cerebral Folate Transport Deficiency in 2 Cases with Intractable Myoclonic Epilepsy

Marian Y Girgis, Eman Mahfouz, Alshaimaa Abdellatif, Farah Taha, Walaa ElNaggar

J Epilepsy Res. 2024 Jun; 14(1): 29–36. Published online 2024 Jun 30. doi: 10.14581/jer.24005

PMCID:: PMC11227922

Abstract Article PDF–3.0M

Select item 789585610.

CIC de novo loss of function variants contribute to cerebral folate deficiency by downregulating FOLR1 expression

Xuanye Cao, Annika Wolf, Sung-Eun Kim, Robert M. Cabrera, Bogdan J. Wlodarczyk, Huiping Zhu, Margaret Parker, Ying Lin, John W. Steele, Xiao Han, Vincent Th Ramaekers, Robert Steinfeld, Richard H. Finnell, Yunping Lei

J Med Genet. 2021 Jul; 58(7): 484–494. Published online 2020 Aug 20. doi: 10.1136/jmedgenet-2020-106987

PMCID:: PMC7895856

Abstract Article PDF–3.5M

Select item 655743811.

5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination

Lance H. Rodan, Wanshu Qi, Gregory S. Ducker, Didem Demirbas, Regina Laine, Edward Yang, Melissa A. Walker, Florian Eichler, Joshua D. Rabinowitz, Irina Anselm, Gerard T. Berry

Mol Genet Metab. Author manuscript; available in PMC 2019 Sep 1.

Published in final edited form as: Mol Genet Metab. 2018 Sep; 125(1-2): 118–126. Published online 2018 Jun 15. doi: 10.1016/j.ymgme.2018.06.006

PMCID:: PMC6557438

Abstract Article PDF–1.3M

Select item 456611012.

Molecular Imaging of Folate Receptor β–Positive Macrophages during Acute Lung Inflammation

Wei Han, Rinat Zaynagetdinov, Fiona E. Yull, Vasiliy V. Polosukhin, Linda A. Gleaves, Harikrishna Tanjore, Lisa R. Young, Todd E. Peterson, H. Charles Manning, Lawrence S. Prince, Timothy S. Blackwell

Am J Respir Cell Mol Biol. 2015 Jul; 53(1): 50–59. doi: 10.1165/rcmb.2014-0289OC

PMCID:: PMC4566110

Abstract Article PDF–1.6M

Select item 544335113.

Dual targeting of epithelial ovarian cancer via folate receptor α and the proton-coupled folate transporter with 6-substituted pyrrolo[2,3-d]pyrimidine antifolates

Zhanjun Hou, Leda Gattoc, Carrie O’Connor, Si Yang, Adrianne Wallace-Povirk, Christina George, Steve Orr, Lisa Polin, Kathryn White, Juiwanna Kushner, Robert T. Morris, Aleem Gangjee, Larry H. Matherly

Mol Cancer Ther. Author manuscript; available in PMC 2018 May 1.

Published in final edited form as: Mol Cancer Ther. 2017 May; 16(5): 819–830. Published online 2017 Jan 30. doi: 10.1158/1535-7163.MCT-16-0444

PMCID:: PMC5443351

Abstract Article PDF–1.9M

Select item 399887614.

Juno is the egg Izumo receptor and is essential for mammalian fertilisation

Enrica Bianchi, Brendan Doe, David Goulding, Sanger Mouse Genetics Project, Gavin J. Wright

Nature. Author manuscript; available in PMC 2014 Oct 24.

Published in final edited form as: Nature. 2014 Apr 24; 508(7497): 483–487. Published online 2014 Apr 16. doi: 10.1038/nature13203

PMCID:: PMC3998876

Abstract Article PDF–785K

Select item 425498315.

Early methyl donor deficiency alters cAMP signaling pathway and neurosteroidogenesis in the cerebellum of female rat pups

Sarah El Hajj Chehadeh, Natacha Dreumont, Jérèmy Willekens, Laetitia Canabady-Rochelle, Elise Jeannesson, Jean-Marc Alberto, Jean-Luc Daval, Jean-Louis Guéant, Brigitte Leininger-Muller

Am J Physiol Endocrinol Metab. 2014 Dec 1; 307(11): E1009–E1019. Published online 2014 Oct 7. doi: 10.1152/ajpendo.00364.2014

PMCID:: PMC4254983

Abstract Article

Select item 434006516.

High folic acid consumption leads to pseudo-MTHFR deficiency, altered lipid metabolism, and liver injury in mice

Karen E Christensen, Leonie G Mikael, Kit-Yi Leung, Nancy Lévesque, Liyuan Deng, Qing Wu, Olga V Malysheva, Ana Best, Marie A Caudill, Nicholas DE Greene, Rima Rozen

Am J Clin Nutr. 2015 Mar; 101(3): 646–658. Published online 2015 Jan 7. doi: 10.3945/ajcn.114.086603