Masashi Akiyama

Sapporo, Japan

Last Updated: 09/26/2026

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Found 20 publications

ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts.

ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts.

Journal: Human mutation

Published: July 31, 2010

Partially disturbed lamellar granule secretion in mild congenital ichthyosiform erythroderma with ALOX12B mutations.

Partially disturbed lamellar granule secretion in mild congenital ichthyosiform erythroderma with ALOX12B mutations.

Journal: The British journal of dermatology

Published: March 13, 2010

Transglutaminase1 preferred substrate peptide K5 is an efficient tool in diagnosis of lamellar ichthyosis.

Transglutaminase1 preferred substrate peptide K5 is an efficient tool in diagnosis of lamellar ichthyosis.

Journal: The American journal of pathology

Published: February 20, 2010

FLG mutations in ichthyosis vulgaris and atopic eczema: spectrum of mutations and population genetics.

FLG mutations in ichthyosis vulgaris and atopic eczema: spectrum of mutations and population genetics.

Journal: The British journal of dermatology

Published: December 05, 2009

CGI-58 is an alpha/beta-hydrolase within lipid transporting lamellar granules of differentiated keratinocytes.

CGI-58 is an alpha/beta-hydrolase within lipid transporting lamellar granules of differentiated keratinocytes.

Journal: The American journal of pathology

Published: October 04, 2008

An update on molecular aspects of the non-syndromic ichthyoses.

An update on molecular aspects of the non-syndromic ichthyoses.

Journal: Experimental dermatology

Published: March 18, 2008

Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy.

Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy.

Journal: Muscle & nerve

Published: July 28, 2007

Compound heterozygous ABCA12 mutations including a novel nonsense mutation underlie harlequin ichthyosis.

Compound heterozygous ABCA12 mutations including a novel nonsense mutation underlie harlequin ichthyosis.

Journal: Dermatology (Basel, Switzerland)

Published: December 21, 2006

DNA-based prenatal diagnosis of harlequin ichthyosis and characterization of ABCA12 mutation consequences.

DNA-based prenatal diagnosis of harlequin ichthyosis and characterization of ABCA12 mutation consequences.

Journal: The Journal of investigative dermatology

Published: November 04, 2006

A novel ABCA12 mutation 3270delT causes harlequin ichthyosis.

A novel ABCA12 mutation 3270delT causes harlequin ichthyosis.

Journal: The British journal of dermatology

Published: October 13, 2006

Pathomechanisms of harlequin ichthyosis and ABCA transporters in human diseases.

Pathomechanisms of harlequin ichthyosis and ABCA transporters in human diseases.

Journal: Archives of dermatology

Published: July 19, 2006

Compound heterozygous mutations including a de novo missense mutation in ABCA12 led to a case of harlequin ichthyosis with moderate clinical severity.

Compound heterozygous mutations including a de novo missense mutation in ABCA12 led to a case of harlequin ichthyosis with moderate clinical severity.

Journal: The Journal of investigative dermatology

Published: May 06, 2006

Showing 1-12 of 20

Last Updated: 09/26/2026