Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer (Q24307584)

3 July 2017

Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer (English)

1 reference

ATP binding cassette subfamily A member 12

3 July 2017

1 reference

GOA release 2020-03-11

Masashi Akiyama

1

Masashi

Akiyama

1 reference

3 July 2017

Yoriko Sugiyama-Nakagiri

2

Yoriko

Sugiyama-Nakagiri

1 reference

3 July 2017

Kaori Sakai

3

Kaori

Sakai

1 reference

3 July 2017

James R McMillan

4

James R

McMillan

1 reference

3 July 2017

Maki Goto

5

Maki

Goto

1 reference

3 July 2017

Ken Arita

6

Ken

Arita

1 reference

3 July 2017

Yukiko Tsuji-Abe

7

Yukiko

Tsuji-Abe

1 reference

3 July 2017

Nobuko Tabata

8

Nobuko

Tabata

1 reference

3 July 2017

Kentaro Matsuoka

9

Kentaro

Matsuoka

1 reference

3 July 2017

Rikako Sasaki

10

Rikako

Sasaki

1 reference

3 July 2017

Daisuke Sawamura

11

Daisuke

Sawamura

1 reference

3 July 2017

Hiroshi Shimizu

12

Hiroshi

Shimizu

1 reference

3 July 2017

language of work or name

English

0 references

publication date

1 July 2005

1 reference

Journal of Clinical Investigation

3 July 2017

1 reference

3 July 2017

115

1 reference

3 July 2017

1777-1784

1 reference

3 July 2017

7

1 reference

Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2

3 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1159149

Identification and characterization of a novel ABCA subfamily member, ABCA12, located in the lamellar ichthyosis region on 2q34

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1159149

ABCA3 is a lamellar body membrane protein in human lung alveolar type II cells

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1159149

Complete coding sequence, promoter region, and genomic structure of the human ABCA2 gene and evidence for sterol-dependent regulation in macrophages

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1159149

ABCG1 (ABC8), the human homolog of the Drosophila white gene, is a regulator of macrophage cholesterol and phospholipid transport

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1159149

Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1159149

Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1159149

A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1159149

The human ATP-binding cassette (ABC) transporter superfamily

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1159149

Structure, function and regulation of the ABC1 gene product

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1159149

Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1159149

Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1159149

Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1159149

Characterization of the human ABC superfamily: isolation and mapping of 21 new genes using the expressed sequence tags database

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1159149

ABC Transporters: From Microorganisms to Man

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1159149

Epidermal lamellar granules transport different cargoes as distinct aggregates

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1159149

Mammalian ABC transporters in health and disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1159149

Molecular basis of cholesterol homeostasis: lessons from Tangier disease and ABCA1.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1159149

Simple and complex ABCR: genetic predisposition to retinal disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1159149

Cholesterol efflux regulatory protein, Tangier disease and familial high-density lipoprotein 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=1159149

An inventory of the human ABC proteins

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1159149

Processing of epidermal glucosylceramides is required for optimal mammalian cutaneous permeability barrier function

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1159149

Genetically transmitted, generalized disorders of cornification. The ichthyoses

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1159149

Demonstration of intra- and extracellular localization of bullous pemphigoid antigen using cryofixation and freeze substitution for postembedding immunoelectron microscopy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1159149

Abnormal Lamellar Granules in Harlequin Ichthyosis

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1159149

DNA-based prenatal exclusion of bullous congenital ichthyosiform erythroderma at the early stage, 10 to 11 weeks' of pregnancy, in two consequent siblings.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1159149

Characterization of the ABCA transporter subfamily: identification of prokaryotic and eukaryotic members, phylogeny and topology.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1159149

Localization of ceramide and glucosylceramide in human epidermis by immunogold electron microscopy.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1159149

Transport of lipids from golgi to plasma membrane is defective in tangier disease patients and Abc1-deficient mice.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1159149

Heterogeneity in Harlequin Ichthyosis, an Inborn Error of Epidermal Keratinization: Variable Morphology and Structural Protein Expression and a Defect in Lamellar Granules

29 November 2018

1 reference

12 December 2020

Characteristic morphologic abnormality of harlequin ichthyosis detected in amniotic fluid cells

1 reference

12 December 2020

Prenatal diagnosis of harlequin ichthyosis by the examination of keratinized hair canals and amniotic fluid cells at 19 weeks' estimated gestational age

1 reference

12 December 2020

Periderm cells form cornified cell envelope in their regression process during human epidermal development

1 reference

12 December 2020

Novel mutations in ABCA1 gene in Japanese patients with Tangier disease and familial high density lipoprotein deficiency with coronary heart disease

1 reference

12 December 2020

Prenatal diagnosis of Harlequin fetus

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI24834

1 reference

release_vhmshgqfcbalfpp4hs53aswb3u

3 July 2017

0 references

OpenCitations bibliographic resource ID

3416943

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference