Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome (Q24536104)

5 July 2017

title

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

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5 July 2017

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M Lathrop

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5 July 2017

C Lefèvre

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5 July 2017

F Jobard

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5 July 2017

F Caux

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5 July 2017

B Bouadjar

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5 July 2017

A Karaduman

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5 July 2017

R Heilig

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5 July 2017

H Lakhdar

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5 July 2017

A Wollenberg

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5 July 2017

J L Verret

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5 July 2017

M Ozgüc

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5 July 2017

J F Prud'homme

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5 July 2017

J Fischer

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5 July 2017

language of work or name

English

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publication date

2 October 2001

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American Journal of Human Genetics

5 July 2017

published in

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5 July 2017

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5 July 2017

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5 July 2017

page(s)

1002-1012

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Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics

5 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274347

Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity

24 March 2017

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Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome

24 March 2017

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Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene

24 March 2017

1 reference

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Relationship between sequence conservation and three-dimensional structure in a large family of esterases, lipases, and related proteins

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274347

Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome

24 March 2017

1 reference

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Alpha/beta hydrolase fold enzymes: the family keeps growing

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274347

Refsum disease is caused by mutations in the phytanoyl–CoA hydroxylase gene

24 March 2017

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Mutations of keratinocyte transglutaminase in lamellar ichthyosis

24 March 2017

1 reference

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Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis

24 March 2017

1 reference

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The alpha/beta hydrolase fold

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274347

Mobilisation of triacylglycerol stores

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274347

Multilocus linkage analysis in humans: detection of linkage and estimation of recombination

24 March 2017

1 reference

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Interpreting cDNA sequences: some insights from studies on translation

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274347

Dorfman-Chanarin syndrome in a Turkish kindred: conductor diagnosis requires analysis of multiple eosinophils

10 May 2017

1 reference

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Of barn owls and bankers: a lush variety of alpha/beta hydrolases

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274347

Lipases and alpha/beta hydrolase fold

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274347

Familial Mediterranean fever (FMF) in Moroccan Jews: demonstration of a founder effect by extended haplotype analysis

27 September 2017

1 reference

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X-linked ichthyosis due to steroid-sulphatase deficiency

27 September 2017

1 reference

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Functional analysis of the Escherichia coli genome for members of the alpha/beta hydrolase family

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274347

Ichthyosiform dermatosis with systemic lipidosis.

30 May 2018

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Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland

30 May 2018

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

28 July 2018

1 reference

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Jordans' anomaly in white blood cells. Report of case

29 November 2018

1 reference

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

29 November 2018

1 reference

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The familial occurrence of fat containing vacuoles in the leukocytes diagnosed in two brothers suffering from dystrophia musculorum progressiva (ERB.).

29 November 2018

1 reference

12 December 2020

Lipid storage myopathy, ichthyosis, and steatorrhea

1 reference

12 December 2020

Neutral lipid storage disease with ichthyosis: lipid content and metabolism of fibroblasts

1 reference

12 December 2020

Ichthyosis and neutral lipid storage disease (Dorfman-Chanarin syndrome)

1 reference

12 December 2020

CHILD syndrome caused by deficiency of 3beta-hydroxysteroid-delta8, delta7-isomerase

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

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

1 reference

12 December 2020

[Dorfman-Chanarin syndrome]

1 reference

12 December 2020

Initial sequencing and analysis of the human genome

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F324121

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1086/324121

1 reference

release_pn5dz3lalfayhbe4wi63xyhxwe

5 July 2017

Fatcat ID

0 references

OpenCitations bibliographic resource ID

1352880

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

5 July 2017

1 reference