Associated Papers
Compound heterozygous ABCA12 variants identified in a Chinese patient with congenital ichthyosiform erythroderma: Advancing genotype-phenotype correlations and literature review.
Liu JW et al.
Molecular Genetics & Genomic Medicine, 2024
38702946 (PubMed )
Supplement: MGG3-12-e2431-s001.docx
Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants.
Noda T et al.
Experimental Dermatology, 2024
A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations.
Montalván-Suárez M et al.
Molecular Genetics & Genomic Medicine, 2019
The roles of ABCA12 in epidermal lipid barrier formation and keratinocyte differentiation.
Akiyama M
Biochimica Et Biophysica Acta, 2014
AKT has an anti-apoptotic role in ABCA12-deficient keratinocytes.
Yanagi T et al.
The Journal of Investigative Dermatology, 2011
The roles of ABCA12 in keratinocyte differentiation and lipid barrier formation in the epidermis.
Akiyama M
Dermato-endocrinology, 2011
New insight into genotype/phenotype correlations in ABCA12 mutations in harlequin ichthyosis.
Umemoto H et al.
Journal of Dermatological Science, 2011
ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts.
Akiyama M
Human Mutation, 2010
DNA-based prenatal exclusion of harlequin ichthyosis.
Yanagi T et al.
Journal of the American Academy of Dermatology, 2008
Expression of the keratinocyte lipid transporter ABCA12 in developing and reconstituted human epidermis.
Yamanaka Y et al.
The American Journal of Pathology, 2007
Compound heterozygous mutations including a de novo missense mutation in ABCA12 led to a case of harlequin ichthyosis with moderate clinical severity.
Akiyama M et al.
The Journal of Investigative Dermatology, 2006
Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer.
Akiyama M et al.
The Journal of Clinical Investigation, 2005
Recent advances in the genetics and management of harlequin ichthyosis.
Ahmed H et al.
Pediatric Dermatology, 0
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