Document Detail


Harlequin ichthyosis unmasked: a defect of lipid transport.
MedLine Citation:
PMID:  16007249     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Harlequin ichthyosis (HI)--the most severe form of keratinizing disorders, often lethal in the neonatal period--is characterized by a profound thickening of the keratin skin layer, a dense "armor"-like scale that covers the body, and contraction abnormalities of the eyes, ears, and mouth. In this issue of the JCI, Akiyama et al. report that mutations in ABCA12 caused defective lipid transport that significantly impacted normal development of the skin barrier. Lipid secretion was recovered after corrective ABCA12 gene transfer into patient keratinocytes. These results should allow for early prenatal diagnosis of HI and lend hope to the possibility of a specific treatment for this devastating disorder.
Authors:
Alain Hovnanian
Related Documents :
19004439 - Effects of low humidity and high air velocity in a heated room on physiological respons...
17785479 - Direct microscopic quantification of dynamics of plasmodium berghei sporozoite transmis...
24025749 - In vitro and in vivo efficacy of syl040012, a novel sirna compound for treatment of gla...
24008789 - Ethanol extract of moringa oliefera prevents in vitro glucose induced cataract on isola...
15538079 - Protective effects of oral antioxidants on skin and eye function.
23843349 - Bmps and sfrp2 maintain the quiescence of adult mammalian retinal stem cells.
18423009 - Melatonin therapy to improve nocturnal sleep in critically ill patients: encouraging re...
16493189 - Qt prodact: in vivo qt assay with a conscious monkey for assessment of the potential fo...
18655799 - Physiological arousal and attention during a week of continuous sleep restriction.
Publication Detail:
Type:  Comment; Journal Article; Review    
Journal Detail:
Title:  The Journal of clinical investigation     Volume:  115     ISSN:  0021-9738     ISO Abbreviation:  J. Clin. Invest.     Publication Date:  2005 Jul 
Date Detail:
Created Date:  2005-07-11     Completed Date:  2005-08-31     Revised Date:  2013-06-09    
Medline Journal Info:
Nlm Unique ID:  7802877     Medline TA:  J Clin Invest     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1708-10     Citation Subset:  AIM; IM    
Affiliation:
Department of Medical Genetics and INSERM U563, Purpan Hospital, Toulouse, France. alain.hovnanian@toulouse.inserm.fr
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
ATP-Binding Cassette Transporters / genetics,  metabolism
Biological Transport, Active / genetics
Female
Gene Transfer Techniques
Humans
Ichthyosis, Lamellar / diagnosis,  etiology*,  genetics,  metabolism*
Infant, Newborn
Keratinocytes / metabolism
Lipid Metabolism, Inborn Errors / complications*,  genetics,  metabolism
Models, Biological
Mutation
Pregnancy
Prenatal Diagnosis
Chemical
Reg. No./Substance:
0/ABCA12 protein, human
Comments/Corrections
Comment On:
J Clin Invest. 2005 Jul;115(7):1777-84   [PMID:  16007253 ]

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Bone marrow plasticity revisited: protection or differentiation in the kidney tubule?
Next Document:  Chromogranin A: a surprising link between granule biogenesis and hypertension.