(Q34482020)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21122093%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

title

Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene (English)

1 reference

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17 January 2020

3

1 reference

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17 January 2020

Solaf Mohamed Elsayed

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21122093%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Daniele Prati

6

1 reference

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17 January 2020

author name string

Chiara Redaelli

1

1 reference

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17 January 2020

Rosalind A Coleman

2

1 reference

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17 January 2020

Catherine Dacou-Voutetakis

4

1 reference

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17 January 2020

Agostino Colli

7

1 reference

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17 January 2020

Donatella Mela

8

1 reference

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17 January 2020

Roberto Colombo

9

1 reference

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17 January 2020

Daniela Tavian

10

1 reference

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17 January 2020

publication date

1 December 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21122093%20AND%20SRC:MED&resulttype=core&format=json

Orphanet Journal of Rare Diseases

17 January 2020

published in

1 reference

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17 January 2020

volume

5

1 reference

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17 January 2020

page(s)

33

1 reference

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https://scigraph.springernature.com/pub.10.1186/1750-1172-5-33

17 January 2020

exact match

0 references

cites work

The N-terminal region of comparative gene identification-58 (CGI-58) is important for lipid droplet binding and activation of adipose triglyceride lipase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019207

CGI-58/ABHD5 is a coenzyme A-dependent lysophosphatidic acid acyltransferase

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019207

CGI-58, the causative gene for Chanarin-Dorfman syndrome, mediates acylation of lysophosphatidic 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=3019207

Improved cytochemical method for detecting Jordans' bodies in neutral lipid storage diseases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019207

Analysis of lipolytic protein trafficking and interactions in adipocytes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019207

The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019207

Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin-Dorfman Syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019207

CGI-58 interacts with perilipin and is localized to lipid droplets. Possible involvement of CGI-58 mislocalization in Chanarin-Dorfman syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019207

Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019207

Neutral lipid storage disease with fatty liver and cholestasis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019207

Neutral lipid storage disease. Case report and lipid studies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019207

Ichthyosiform dermatosis with systemic lipidosis.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019207

Neutral lipid storage disease: a possible functional defect in phospholipid- linked triacylglycerol 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=3019207

Severe steatohepatitis in a patient with a rare neutral lipid storage disorder due to ABHD5 mutation.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019207

A rare cause of nonalcoholic fatty liver disease.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019207

Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019207

Homeologous recombination between AluSx-sequences as a cause of hemophilia

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019207

Chinese hamster ovary K2 cell lipid droplets appear to be metabolic organelles involved in membrane traffic

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019207

Neutral lipid storage disease--response to dietary intervention

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019207

The turnover of cytoplasmic triacylglycerols in human fibroblasts involves two separate acyl chain length-dependent degradation pathways.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019207

Jordans' anomaly in white blood cells. Report of case

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019207

Clinical and genetic characterization of Chanarin–Dorfman syndrome

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019207

Meta-Analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the role of replication slippage

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019207

Neutral-lipid storage disease: a new disorder of lipid metabolism

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019207

Dorfman-Chanarin syndrome in Egypt

27 October 2018

1 reference

12 December 2020

Ichthyosis and neutral lipid storage disease

1 reference

12 December 2020

Specific myocardial disease caused by multisystemic triglyceride storage in Jordans' anomaly

1 reference

12 December 2020

Acylglycerol recycling from triacylglycerol to phospholipid, not lipase activity, is defective in neutral lipid storage disease fibroblasts

1 reference

12 December 2020

Dorfman-Chanarin syndrome: a case with prevalent hepatic involvement

1 reference

12 December 2020

1 reference

12 December 2020

Neutral lipid storage disease: a genetic disorder with abnormalities in the regulation of phospholipid metabolism

1 reference

12 December 2020

Identifiers

DOI

10.1186/1750-1172-5-33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21122093%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

17 January 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21122093%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

1 reference