(Q34768374)

4 August 2017

0 references

A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis (English)

1 reference

autosomal recessive congenital ichthyosis

4 August 2017

0 references

0 references

5

Reuven Bergman

1 reference

4 August 2017

Shirli Israeli

1

1 reference

4 August 2017

Ziyad Khamaysi

2

1 reference

4 August 2017

Dana Fuchs-Telem

3

1 reference

4 August 2017

Janna Nousbeck

4

1 reference

4 August 2017

Ofer Sarig

6

1 reference

4 August 2017

Eli Sprecher

7

1 reference

4 August 2017

language of work or name

English

0 references

publication date

1 April 2011

1 reference

American Journal of Human Genetics

4 August 2017

published in

1 reference

4 August 2017

volume

88

1 reference

4 August 2017

issue

4

1 reference

4 August 2017

page(s)

482-487

1 reference

CEDNIK syndrome results from loss-of-function mutations in SNAP29.

4 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071911

Pleomorphic ichthyosis: proposed name for a heterogeneous group of congenital ichthyoses with phenotypic shifting and mild residual scaling

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071911

ABCA12 mutations and autosomal recessive congenital ichthyosis: A review of genotype/phenotype correlations and of pathogenetic conceptsa

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071911

Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071911

Comparative studies of mammalian acid lipases: Evidence for a new gene family in mouse and rat (Lipo)

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071911

Growth retardation, impaired triacylglycerol catabolism, hepatic steatosis, and lethal skin barrier defect in mice lacking comparative gene identification-58 (CGI-58).

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071911

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071911

Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071911

An update on molecular aspects of the non-syndromic ichthyoses

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071911

Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071911

Ichthyosis update: towards a function-driven model of pathogenesis of the disorders of cornification and the role of corneocyte proteins in these disorders

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071911

CGI-58 facilitates the mobilization of cytoplasmic triglyceride for lipoprotein secretion in hepatoma cells

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071911

Large-scale identification of human genes implicated in epidermal barrier function

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071911

Role of epidermis-type lipoxygenases for skin barrier function and adipocyte differentiation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071911

Identification of a novel locus associated with congenital recessive ichthyosis on 12p11.2-q13.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071911

Harlequin ichthyosis unmasked: a defect of lipid transport

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071911

Basis for abnormal desquamation and permeability barrier dysfunction in RXLI

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071911

An autosomal recessive exfoliative ichthyosis with linkage to chromosome 12q13.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071911

Cholesteryl ester storage disease and Wolman disease: phenotypic variants of lysosomal acid cholesteryl ester hydrolase deficiency

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071911

Molecular cloning of a human gastric lipase and expression of the enzyme in yeast

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071911

Autosomal recessive congenital ichthyosis maps to chromosome 15q26.3 in an isolated aboriginal population from southern Taiwan

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071911

Annual direct and indirect health costs of the congenital ichthyoses.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071911

Rapid detection of homozygous mutations in congenital recessive ichthyosis

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071911

Exact genetic linkage computations for general pedigrees.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071911

An economic method for the fluorescent labeling of PCR fragments.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071911

Clinical and genetic characterization of Chanarin–Dorfman syndrome

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071911

Autosomal recessive congenital ichthyosis

26 October 2018

1 reference

12 December 2020

Homozygosity mapping as a screening tool for the molecular diagnosis of hereditary skin diseases in consanguineous populations

1 reference

12 December 2020

Positional Specificity of Triglyceride Lipases in Post-Heparin Plasma

1 reference

12 December 2020

Aberrant lipid organization in stratum corneum of patients with atopic dermatitis and lamellar ichthyosis

1 reference

12 December 2020

10.1016/J.AJHG.2011.02.011

Identifiers

DOI

1 reference

4 August 2017

1 reference

4 August 2017

1 reference