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Items: 1 to 20 of 28

1.
Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features
Marcello Scala, Geok Lin Chua, Cheen Fei Chin, Hessa S. Alsaif, Artem Borovikov, Saima Riazuddin, Sheikh Riazuddin, M. Chiara Manzini, Mariasavina Severino, Alvin Kuk, Hao Fan, Yalda Jamshidi, Mehran Beiraghi Toosi, Mohammad Doosti, Ehsan Ghayoor Karimiani, Vincenzo Salpietro, Elena Dadali, Galina Baydakova, Fedor Konovalov, Ekaterina Lozier, Emer O’Connor, Yasser Sabr, Abdullah Alfaifi, Farah Ashrafzadeh, Pasquale Striano, Federico Zara, Fowzan S. Alkuraya, Henry Houlden, Reza Maroofian, David L. Silver
Eur J Hum Genet. 2020 Nov; 28(11): 1509–1519. Published online 2020 Jun 22. doi: 10.1038/s41431-020-0669-x
PMCID:
PMC7576150
AbstractArticlePDF–1.4M
2.
Child Head Circumference and Placental MFSD2a Expression Are Associated to the Level of MFSD2a in Maternal Blood During Pregnancy
María Sánchez-Campillo, María Ruiz-Palacios, Antonio J. Ruiz-Alcaraz, María Teresa Prieto-Sánchez, José Eliseo Blanco-Carnero, Matilde Zornoza, María José Ruiz-Pastor, Hans Demmelmair, Manuel Sánchez-Solís, Berthold Koletzko, Elvira Larqué
Front Endocrinol (Lausanne) 2020; 11: 38. Published online 2020 Feb 5. doi: 10.3389/fendo.2020.00038
PMCID:
PMC7012934
AbstractArticlePDF–670K
3.
Decreased Blood Level of MFSD2a as a Potential Biomarker of Alzheimer’s Disease
María Sánchez-Campillo, María José Ruiz-Pastor, Antonio Gázquez, Juan Marín-Muñoz, Fuensanta Noguera-Perea, Antonio J. Ruiz-Alcaraz, Salvadora Manzanares-Sánchez, Carmen Antúnez, Elvira Larqué
Int J Mol Sci. 2020 Jan; 21(1): 70. Published online 2019 Dec 20. doi: 10.3390/ijms21010070
PMCID:
PMC6981746
AbstractArticlePDF–1.7M
4.
The prognostic value of major facilitator superfamily domain-containing protein 2A in patients with hepatocellular carcinoma
Shan Xing, Jun Kan, Aishan Su, Qiao-Dan Liu, Kailin Wang, Xiuyu Cai, Jun Dong
Aging (Albany NY) 2019 Oct 15; 11(19): 8474–8483. Published online 2019 Oct 4. doi: 10.18632/aging.102333
PMCID:
PMC6814593
AbstractArticlePDF–1.8M
5.
Relation of placental alkaline phosphatase expression in human term placenta to maternal and offspring fat mass
Birgit Hirschmugl, Sarah Crozier, Nina Matthews, Eva Kitzinger, Ingeborg Klymiuk, Hazel M Inskip, Nicholas C Harvey, Cyrus Cooper, Colin P Sibley, Jocelyn Glazier, Christian Wadsack, Keith M Godfrey, Gernot Desoye, Rohan M Lewis
Int J Obes (Lond) Author manuscript; available in PMC 2018 Dec 1.
Published in final edited form as: Int J Obes (Lond). 2018 Jun; 42(6): 1202–1210. Published online 2018 Jun 13. doi: 10.1038/s41366-018-0136-8
PMCID:
PMC6173293
AbstractArticlePDF–1.2M
6.
A 5'-region polymorphism modulates promoter activity of the tumor suppressor gene MFSD2A
Francesca Colombo, Felicia S Falvella, Antonella Galvan, Elisa Frullanti, Hideo Kunitoh, Toshikazu Ushijima, Tommaso A Dragani
Mol Cancer. 2011; 10: 81. Published online 2011 Jul 7. doi: 10.1186/1476-4598-10-81
PMCID:
PMC3155907
AbstractArticlePDF–409K
7.
A haploid genetic screen identifies the major facilitator domain containing 2A (MFSD2A) transporter as a key mediator in the response to tunicamycin
Jan H. Reiling, Clary B. Clish, Jan E. Carette, Malini Varadarajan, Thijn R. Brummelkamp, David M. Sabatini
Proc Natl Acad Sci U S A. 2011 Jul 19; 108(29): 11756–11765. Published online 2011 Jun 15. doi: 10.1073/pnas.1018098108
PMCID:
PMC3141996
AbstractArticlePDF–1.3M
8.
MFSD2A is a novel lung tumor suppressor gene modulating cell cycle and matrix attachment
Monica Spinola, Felicia S Falvella, Francesca Colombo, James P Sullivan, David S Shames, Luc Girard, Paola Spessotto, John D Minna, Tommaso A Dragani
Mol Cancer. 2010; 9: 62. Published online 2010 Mar 17. doi: 10.1186/1476-4598-9-62
PMCID:
PMC2846890
AbstractArticlePDF–1.0M
9.
Structural basis of ω−3 fatty acid transport across the blood-brain barrier
Rosemary J. Cater, Geok-Lin Chua, Satchal K. Erramilli, James E. Keener, Brendon C. Choy, Piotr Tokarz, Cheen Fei Chin, Debra Q.Y. Quek, Brian Kloss, Joseph G. Pepe, Giacomo Parisi, Bernice H. Wong, Oliver B. Clarke, Michael T. Marty, Anthony A. Kossiakoff, George Khelashvili, David L. Silver, Filippo Mancia
Nature. Author manuscript; available in PMC 2022 Jan 1.
Published in final edited form as: Nature. 2021 Jul; 595(7866): 315–319. Published online 2021 Jun 16. doi: 10.1038/s41586-021-03650-9
PMCID:
PMC8266758
AbstractArticlePDF–7.6M
10.
Zika virus degrades the ω-3 fatty acid transporter Mfsd2a in brain microvascular endothelial cells and impairs lipid homeostasis
Jia Zhou, Xiaojing Chi, Min Cheng, Xingyao Huang, Xiuying Liu, Jingjing Fan, Hua Xu, Tianli Lin, Lei Shi, Chengfeng Qin, Wei Yang
Sci Adv. 2019 Oct; 5(10): eaax7142. Published online 2019 Oct 23. doi: 10.1126/sciadv.aax7142
PMCID:
PMC6810275
AbstractArticlePDF–6.1M
11.
A placenta-specific receptor for the fusogenic, endogenous retrovirus-derived, human syncytin-2
Cécile Esnault, Stéphane Priet, David Ribet, Cécile Vernochet, Thomas Bruls, Christian Lavialle, Jean Weissenbach, Thierry Heidmann
Proc Natl Acad Sci U S A. 2008 Nov 11; 105(45): 17532–17537. Published online 2008 Nov 6. doi: 10.1073/pnas.0807413105
PMCID:
PMC2582322
AbstractArticlePDF–969K
12.
Structural Insights into the Transport Mechanism of the Human Sodium-dependent Lysophosphatidylcholine Transporter MFSD2A
Debra Q. Y. Quek, Long N. Nguyen, Hao Fan, David L. Silver
J Biol Chem. 2016 Apr 29; 291(18): 9383–9394. Published online 2016 Mar 4. doi: 10.1074/jbc.M116.721035
PMCID:
PMC4850279
AbstractArticlePDF–2.8M
13.
Inactivating Mutations in MFSD2A, Required for Omega-3 Fatty Acid Transport in Brain, Cause a Lethal Microcephaly Syndrome
Alicia Guemez-Gamboa, Long N. Nguyen, Hongbo Yang, Maha S. Zaki, Majdi Kara, Tawfeg Ben-Omran, Naiara Akizu, Rasim Ozgur Rosti, Basak Rosti, Eric Scott, Jana Schroth, Brett Copeland, Keith K. Vaux, Amaury Cazenave-Gassiot, Debra Q.Y. Quek, Bernice H. Wong, Bryan C. Tan, Markus R. Wenk, Murat Gunel, Stacey Gabriel, Neil C. Chi, David L. Silver, Joseph G. Gleeson
Nat Genet. Author manuscript; available in PMC 2016 Jan 1.
Published in final edited form as: Nat Genet. 2015 Jul; 47(7): 809–813. Published online 2015 May 25. doi: 10.1038/ng.3311
PMCID:
PMC4547531
AbstractArticlePDF–787K
14.
MSFD2A is critical for the formation and function of the blood brain barrier
Ayal Ben-Zvi, Baptiste Lacoste, Esther Kur, Benjamin J. Andreone, Yoav Mayshar, Han Yan, Chenghua Gu
Nature. Author manuscript; available in PMC 2014 Aug 17.
Published in final edited form as: Nature. 2014 May 22; 509(7501): 507–511. Published online 2014 May 14. doi: 10.1038/nature13324
PMCID:
PMC4134871
AbstractArticlePDF–2.8M
15.
Mfsd2a encodes a novel major facilitator superfamily domain-containing protein highly induced in brown adipose tissue during fasting and adaptive thermogenesis
Martin Angers, Marc Uldry, Dong Kong, Jeffrey M. Gimble, Anton M. Jetten
Biochem J. Author manuscript; available in PMC 2008 Dec 15.
Published in final edited form as: Biochem J. 2008 Dec 15; 416(3): 347–355. doi: 10.1042/BJ20080165
PMCID:
PMC2587516
AbstractArticlePDF–2.2M
16.
Generalization of Variants Identified by Genome-wide Association Studies for Electrocardiographic Traits in African Americans
Janina M. Jeff, Marylyn D. Ritchie, Joshua C. Denny, Abel N. Kho, Andrea H. Ramirez, David Crosslin, Loren Armstrong, Melissa A. Basford, Wendy A. Wolf, Jennifer A. Pacheco, Rex L. Chisholm, Dan M. Roden, M. Geoffrey Hayes, Dana C. Crawford
Ann Hum Genet. Author manuscript; available in PMC 2014 Jul 30.
Published in final edited form as: Ann Hum Genet. 2013 Jul; 77(4): 321–332. Published online 2013 Mar 28. doi: 10.1111/ahg.12023
PMCID:
PMC3743946
AbstractArticlePDF–375K
17.
Establishment and Dysfunction of the Blood-Brain Barrier
Zhen Zhao, Amy R. Nelson, Christer Betsholtz, Berislav V. Zlokovic
Cell. Author manuscript; available in PMC 2016 Nov 19.
Published in final edited form as: Cell. 2015 Nov 19; 163(5): 1064–1078. doi: 10.1016/j.cell.2015.10.067
PMCID:
PMC4655822
AbstractArticlePDF–1.4M
18.
Blood-Brain Barrier: From Physiology to Disease and Back
Melanie D. Sweeney, Zhen Zhao, Axel Montagne, Amy R. Nelson, Berislav V. Zlokovic
Physiol Rev. 2019 Jan 1; 99(1): 21–78. Published online 2018 Oct 3. doi: 10.1152/physrev.00050.2017
PMCID:
PMC6335099
AbstractArticle
19.
Large-scale cDNA transfection screening for genes related to cancer development and progression
Dafang Wan, Yi Gong, Wenxin Qin, Pingping Zhang, Jinjun Li, Lin Wei, Xiaomei Zhou, Hongnian Li, Xiaokun Qiu, Fei Zhong, Liping He, Jian Yu, Genfu Yao, Huiqiu Jiang, Lianfang Qian, Ye Yu, Huiqun Shu, Xianlian Chen, Huili Xu, Minglei Guo, Zhimei Pan, Yan Chen, Chao Ge, Shengli Yang, Jianren Gu
Proc Natl Acad Sci U S A. 2004 Nov 2; 101(44): 15724–15729. Published online 2004 Oct 21. doi: 10.1073/pnas.0404089101
Correction in:
Proc Natl Acad Sci U S A. 2004 Dec 14; 101(50): 17565.
PMCID:
PMC524842
AbstractArticlePDF–245K
20.
Systematic protein–protein interaction mapping for clinically relevant human GPCRs
Kate Sokolina, Saranya Kittanakom, Jamie Snider, Max Kotlyar, Pascal Maurice, Jorge Gandía, Abla Benleulmi‐Chaachoua, Kenjiro Tadagaki, Atsuro Oishi, Victoria Wong, Ramy H Malty, Viktor Deineko, Hiroyuki Aoki, Shahreen Amin, Zhong Yao, Xavier Morató, David Otasek, Hiroyuki Kobayashi, Javier Menendez, Daniel Auerbach, Stephane Angers, Natasa Pržulj, Michel Bouvier, Mohan Babu, Francisco Ciruela, Ralf Jockers, Igor Jurisica, Igor Stagljar
Mol Syst Biol. 2017 Mar; 13(3): 918. Published online 2017 Mar 15. doi: 10.15252/msb.20167430
PMCID:
PMC5371730
AbstractArticlePDF–4.1M

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