(Q24536104)

5 July 2017

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

1 reference

5 July 2017

10

0 references

Mark Lathrop

12

object named as

M Lathrop

1 reference

5 July 2017

C Lefèvre

1

1 reference

5 July 2017

F Jobard

2

1 reference

5 July 2017

F Caux

3

1 reference

5 July 2017

B Bouadjar

4

1 reference

5 July 2017

A Karaduman

5

1 reference

5 July 2017

R Heilig

6

1 reference

5 July 2017

H Lakhdar

7

1 reference

5 July 2017

A Wollenberg

8

1 reference

5 July 2017

J L Verret

9

1 reference

5 July 2017

M Ozgüc

11

1 reference

5 July 2017

J F Prud'homme

13

1 reference

5 July 2017

J Fischer

14

1 reference

5 July 2017

language of work or name

English

0 references

publication date

2 October 2001

1 reference

American Journal of Human Genetics

5 July 2017

1 reference

5 July 2017

69

1 reference

5 July 2017

1002-1012

1 reference

5 July 2017

5

1 reference

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

5 July 2017

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

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

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

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

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

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

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

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

1 reference

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

Mutations of keratinocyte transglutaminase in lamellar ichthyosis

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 gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis

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

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

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

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

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

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

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

X-linked ichthyosis due to steroid-sulphatase deficiency

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

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

1 reference

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

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

30 May 2018

1 reference

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

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

28 July 2018

1 reference

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

Jordans' anomaly in white blood cells. Report of case

29 November 2018

1 reference

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

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

29 November 2018

1 reference

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

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

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