(Q45345293)

13 December 2017

Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis (English)

1 reference

13 December 2017

autism spectrum disorder

0 references

0 references

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24031089%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Domenico Garozzo

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24031089%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

author name string

Angel Ashikov

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24031089%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Chaim Jalas

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24031089%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Luisa Sturiale

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24031089%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Avraham Shaag

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24031089%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Anastasia Fedick

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24031089%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Nathan R Treff

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24031089%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Rita Gerardy-Schahn

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24031089%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Orly Elpeleg

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24031089%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

language of work or name

English

0 references

publication date

12 September 2013

1 reference

Journal of Medical Genetics

13 December 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24031089%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

volume

50

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24031089%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

issue

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24031089%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

page(s)

733-739

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24031089%20AND%20SRC:MED&resulttype=core&format=json

Prevalence of autism spectrum disorders in a total population sample

13 June 2020

cites work

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101753

A case-control family history study of autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101753

Genetic Heritability and Shared Environmental Factors Among Twin Pairs With Autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101753

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101753

Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101753

Protein interactome reveals converging molecular pathways among autism disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101753

Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101753

The human solute carrier gene SLC35B4 encodes a bifunctional nucleotide sugar transporter with specificity for UDP-xylose and UDP-N-acetylglucosamine

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101753

Mass spectrometry in the characterization of human genetic N-glycosylation defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101753

The impact of mass spectrometry in the diagnosis of congenital disorders of glycosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101753

MutationTaster evaluates disease-causing potential of sequence alterations

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101753

Hereditary sensory autonomic neuropathy caused by a mutation in dystonin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101753

Developmental diseases caused by impaired nucleotide sugar transporters

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101753

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101753

Pre- and post-Golgi translocation of glucosylceramide in glycosphingolipid synthesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101753

Molecular cloning and functional expression of the human Golgi UDP-N-acetylglucosamine transporter

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101753

Tissue-specific mRNA expression profiles of human solute carrier 35 transporters

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101753

Molecular cloning and characterization of a human multisubstrate specific nucleotide-sugar transporter homologous to Drosophila fringe connection

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101753

Identification and characterization of human Golgi nucleotide sugar transporter SLC35D2, a novel member of the SLC35 nucleotide sugar transporter family

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101753

Molecular characterization of human UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter, a novel nucleotide sugar transporter with dual substrate specificity

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101753

Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101753

Gene expression profiling, chromosome assignment and mutational analysis of the porcine Golgi-resident UDP-N-acetylglucosamine transporter SLC35A3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101753

UDP-N-acetylglucosamine transporter (SLC35A3) regulates biosynthesis of highly branched N-glycans and keratan sulfate.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101753

Complex N-glycan number and degree of branching cooperate to regulate cell proliferation and differentiation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101753

UDP-GlcNAc concentration is an important factor in the biosynthesis of beta1,6-branched oligosaccharides: regulation based on the kinetic properties of N-acetylglucosaminyltransferase V.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101753

lunatic fringe is an essential mediator of somite segmentation and patterning

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101753

A missense mutation in the bovine SLC35A3 gene, encoding a UDP-N-acetylglucosamine transporter, causes complex vertebral malformation

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101753

Faulty initiation of proteoglycan synthesis causes cardiac and joint defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101753

10.1136/JMEDGENET-2013-101753

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24031089%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

1 reference