(Q36923840)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18940313%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

title

The H syndrome is caused by mutations in the nucleoside transporter hENT3 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18940313%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

1 reference

Valentina Broshtilova

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18940313%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

author name string

Vered Molho-Pessach

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18940313%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

Israela Lerer

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18940313%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

Dvorah Abeliovich

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18940313%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

Ziad Agha

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18940313%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

Abdulasalam Abu Libdeh

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18940313%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

Orly Elpeleg

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18940313%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

Abraham Zlotogorski

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18940313%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

language of work or name

English

0 references

publication date

1 October 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18940313%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

24 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18940313%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

volume

83

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18940313%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

issue

4

1 reference

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24 December 2019

page(s)

529-534

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18940313%20AND%20SRC:MED&resulttype=core&format=json

The role of mitochondrial and plasma membrane nucleoside transporters in drug toxicity.

24 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561939

Lysosomal storage disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561939

Mitochondrial expression of the human equilibrative nucleoside transporter 1 (hENT1) results in enhanced mitochondrial toxicity of antiviral drugs.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561939

The concentrative nucleoside transporter family, SLC28

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561939

The ENT family of eukaryote nucleoside and nucleobase transporters: recent advances in the investigation of structure/function relationships and the identification of novel isoforms

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561939

Mitochondria and skin disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561939

Nucleoside transporters: molecular biology and implications for therapeutic development

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561939

The H syndrome: a genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestations.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561939

Clinical aspects of mitochondrial disorders

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561939

Pigmented hypertrichotic dermatosis and insulin dependent diabetes: manifestations of a unique genetic disorder?

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561939

Functional characterization of novel human and mouse equilibrative nucleoside transporters (hENT3 and mENT3) located in intracellular membranes

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561939

Hair and Skin Disorders as Signs of Mitochondrial Disease

4 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18940313

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Autosomal recessive plasma cell panniculitis with morphea-like clinical manifestation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18940313

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

1 reference

https://pubmed.ncbi.nlm.nih.gov/18940313

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2008.09.013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18940313%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18940313%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

1 reference