(Q34477725)

2 August 2017

Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome (English)

1 reference

Major facilitator superfamily domain containing 2A

2 August 2017

0 references

0 references

1 reference

Major facilitator superfamily domain containing 2A

1 reference

Major facilitator superfamily domain containing 2aa

1 reference

Major facilitator superfamily domain containing 2ab

1 reference

20

Stacey Gabriel

1 reference

2 August 2017

Brett Copeland

12

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Alicia Guemez-gamboa

Alicia Guemez-Gamboa

1

0 references

David L. Silver

David L Silver

22

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Amaury Cazenave-Gassiot

Amaury Cazenave-Gassiot

14

0 references

Maha Zaki

Maha S Zaki

4

0 references

Joseph G Gleeson

23

Joseph G Gleeson

1 reference

2 August 2017

18

Markus R Wenk

1 reference

2 August 2017

6

Tawfeg Ben-Omran

1 reference

2 August 2017

Long N Nguyen

2

1 reference

2 August 2017

Hongbo Yang

3

1 reference

2 August 2017

Majdi Kara

5

1 reference

2 August 2017

Naiara Akizu

7

1 reference

2 August 2017

Rasim Ozgur Rosti

8

1 reference

2 August 2017

Basak Rosti

9

1 reference

2 August 2017

Eric Scott

10

1 reference

2 August 2017

Jana Schroth

11

1 reference

2 August 2017

Keith K Vaux

13

1 reference

2 August 2017

Debra Q Y Quek

15

1 reference

2 August 2017

Bernice H Wong

16

1 reference

2 August 2017

Bryan C Tan

17

1 reference

2 August 2017

Murat Gunel

19

1 reference

2 August 2017

Neil C Chi

21

1 reference

2 August 2017

language of work or name

English

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publication date

25 May 2015

1 reference

2 August 2017

1 reference

2 August 2017

47

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2 August 2017

7

1 reference

2 August 2017

809-813

1 reference

describes a project that uses

2 August 2017

ImageQuant

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4547531/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

exact match

https://scigraph.springernature.com/pub.10.1038/ng.3311

0 references

cites work

Reverse genetic screening reveals poor correlation between morpholino-induced and mutant phenotypes in zebrafish.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4547531

Mfsd2a is a transporter for the essential omega-3 fatty acid docosahexaenoic acid

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4547531

Mfsd2a is critical for the formation and function of the blood-brain barrier

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4547531

Structure-based mechanism for Na+/melibiose symport by MelB

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4547531

Functional characterisation of the maturation of the blood-brain barrier in larval zebrafish

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4547531

Major facilitator superfamily domain-containing protein 2a (MFSD2A) has roles in body growth, motor function, and lipid metabolism

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4547531

Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4547531

Evolution and functional impact of rare coding variation from deep sequencing of human exomes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4547531

Comparative plasma lipidome between human and cynomolgus monkey: are plasma polar lipids good biomarkers for diabetic monkeys?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4547531

A framework for variation discovery and genotyping using next-generation DNA sequencing data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4547531

The mouse blood-brain barrier transcriptome: a new resource for understanding the development and function of brain endothelial cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4547531

Pericytes control key neurovascular functions and neuronal phenotype in the adult brain and during brain aging

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4547531

Pericytes regulate the blood-brain barrier

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4547531

Pericytes are required for blood-brain barrier integrity during embryogenesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4547531

Improved spatial learning performance of fat-1 mice is associated with enhanced neurogenesis and neuritogenesis by docosahexaenoic acid

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4547531

Foxn4 directly regulates tbx2b expression and atrioventricular canal formation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4547531

Strategies to avoid the loss of developmental potential in more than 200 million children in the developing world

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4547531

Cloning and characterization of mouse lung-type acyl-CoA:lysophosphatidylcholine acyltransferase 1 (LPCAT1). Expression in alveolar type II cells and possible involvement in surfactant production

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4547531

Evidence for a role of helix IV in connecting cation- and sugar-binding sites of Escherichia coli melibiose permease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4547531

The blood-brain barrier and selective vulnerability in experimental thiamine-deficiency encephalopathy in the mouse.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4547531

Distribution and fatty acid composition of phosphoglycerides in normal human brain.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4547531

Fatty acid composition of brain phospholipids in aging and in Alzheimer's disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4547531

Docosahexaenoic acid promotes neurogenesis in vitro and in vivo

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4547531

27 October 2018

Identifiers

DOI

10.1038/NG.3311

1 reference

2 August 2017

1 reference

2 August 2017

1 reference