K. Sakai

发表

Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer.

J. R. McMillan, M. Akiyama, H. Shimizu, 2005, The Journal of clinical investigation.

A novel GJB2 mutation p.Asn54His in a patient with palmoplantar keratoderma, sensorineural hearing loss and knuckle pads.

J. R. McMillan, M. Akiyama, H. Shimizu, 2007, The Journal of investigative dermatology.

Medical genetics: An Indian family with Sjögren‐Larsson syndrome caused by a novel ALDH3A2 mutation

M. Akiyama, H. Shimizu, S. Nampoothiri, 2010, International journal of dermatology.

Novel ALDH3A2 heterozygous mutations in a Japanese family with Sjögren-Larsson syndrome.

M. Akiyama, H. Shimizu, A. Shibaki, 2006, The Journal of investigative dermatology.

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

J. R. McMillan, M. Akiyama, H. Shimizu, 2007, Muscle & nerve.

Keratin 1 gene mutation detected in epidermal nevus with epidermolytic hyperkeratosis.

M. Akiyama, H. Shimizu, D. Sawamura, 2007, The Journal of investigative dermatology.

Specific filaggrin mutations cause ichthyosis vulgaris and are significantly associated with atopic dermatitis in Japan.

M. Akiyama, H. Shimizu, C. Palmer, 2008, The Journal of investigative dermatology.

Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis.

M. Akiyama, H. Shimizu, C. Palmer, 2007, The Journal of allergy and clinical immunology.

Mild recessive bullous congenital ichthyosiform erythroderma due to a previously unidentified homozygous keratin 10 nonsense mutation.

M. Akiyama, H. Shimizu, Jean Kanitakis, 2008, The Journal of investigative dermatology.

Localization of ABCA12 from Golgi apparatus to lamellar granules in human upper epidermal keratinocytes

J. R. McMillan, M. Akiyama, H. Shimizu, 2007, Experimental dermatology.

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

M. Akiyama, H. Shimizu, S. Fukushima, 2010, The American journal of pathology.

Molecular Pathogenesis of Genetic and Inherited Diseases Keratinocyte-/ Fibroblast-Targeted Rescue of Col 7 a 1-Disrupted Mice and Generation of an Exact Dystrophic Epidermolysis Bullosa Model Using a Human COL 7 A 1 Mutation

M. Akiyama, H. Shimizu, J. Uitto, 2010 .

Congenital ichthyosiform erythroderma mimicking ichthyosis bullosa of Siemens

J. R. McMillan, M. Akiyama, H. Shimizu, 2007, The British journal of dermatology.

Possible involvement of exon 31 alternative splicing in phenotype and severity of epidermolysis bullosa caused by mutations in PLEC1.

J. R. McMillan, M. Akiyama, H. Shimizu, 2007, The Journal of investigative dermatology.

Conradi–Hünermann–Happle syndrome with abnormal lamellar granule contents

M. Akiyama, H. Shimizu, K. Hayasaka, 2009, The British journal of dermatology.

Targeted skipping of a single exon harboring a premature termination codon mutation: implications and potential for gene correction therapy for selective dystrophic epidermolysis bullosa patients.

J. R. McMillan, M. Akiyama, H. Shimizu, 2006, The Journal of investigative dermatology.

Epithelial and Mesenchymal Cell Biology CGI-58 Is an /-Hydrolase within Lipid Transporting Lamellar Granules of Differentiated Keratinocytes

J. R. McMillan, M. Akiyama, H. Shimizu, 2010 .

Humanization of autoantigen

J. R. McMillan, M. Akiyama, H. Shimizu, 2007, Nature Medicine.

Prevalent and rare mutations in the gene encoding filaggrin in Japanese patients with ichthyosis vulgaris and atopic dermatitis.

M. Akiyama, H. Shimizu, C. Palmer, 2009, The Journal of investigative dermatology.

Epithelial and Mesenchymal Cell Biology Self-Improvement of Keratinocyte Differentiation Defects During Skin Maturation in ABCA 12-Deficient Harlequin Ichthyosis Model Mice

M. Akiyama, H. Shimizu, Yuki Miyamura, 2010 .

A novel splice site mutation in NCSTN underlies a Japanese family with hidradenitis suppurativa

M. Akiyama, H. Shimizu, T. Nomura, 2013, The British journal of dermatology.

Novel adenosine triphosphate (ATP)‐binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma

M. Akiyama, H. Shimizu, T. Hamada, 2012, The British journal of dermatology.

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

M. Akiyama, H. Shimizu, T. Yanagi, 2010, The British journal of dermatology.

Harlequin ichthyosis model mouse reveals alveolar collapse and severe fetal skin barrier defects.

M. Akiyama, H. Shimizu, H. Nishihara, 2008, Human molecular genetics.

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

J. R. McMillan, M. Akiyama, H. Shimizu, 2007, The Journal of investigative dermatology.

DNA-based prenatal exclusion of harlequin ichthyosis.

M. Akiyama, H. Shimizu, R. Kosaki, 2008, Journal of the American Academy of Dermatology.

Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia.

M. Akiyama, H. Shimizu, K. Natsuga, 2007, The Journal of investigative dermatology.

A novel ABCA12 mutation 3270delT causes harlequin ichthyosis

J. R. McMillan, M. Akiyama, H. Shimizu, 2006, The British journal of dermatology.

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

J. R. McMillan, M. Akiyama, H. Shimizu, 2006, The Journal of investigative dermatology.

Expression of the keratinocyte lipid transporter ABCA12 in developing and reconstituted human epidermis.

J. R. McMillan, M. Akiyama, H. Shimizu, 2007, The American journal of pathology.

New insight into genotype/phenotype correlations in ABCA12 mutations in harlequin ichthyosis.

M. Akiyama, H. Shimizu, Y. Aoyama, 2011, Journal of dermatological science.

Fibroblasts show more potential as target cells than keratinocytes in COL7A1 gene therapy of dystrophic epidermolysis bullosa.

M. Akiyama, H. Shimizu, D. Sawamura, 2006, The Journal of investigative dermatology.

Instructions for use Title A novel ABCA 12 mutation 3270 delT causes harlequin ichthyosis

J. R. McMillan, H. Shimizu, I. Hausser, 2017 .

ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma.

J. R. McMillan, M. Akiyama, H. Shimizu, 2009, The Journal of investigative dermatology.

Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma

J. R. McMillan, M. Akiyama, H. Shimizu, 2008, The British journal of dermatology.

Compound Heterozygous ABCA12 Mutations Including a Novel Nonsense Mutation Underlie Harlequin Ichthyosis

J. R. McMillan, M. Akiyama, H. Shimizu, 2007, Dermatology.

COL7A1 mutation G2037E causes epidermal retention of type VII collagen

M. Akiyama, H. Shimizu, M. Furue, 2006, Journal of Human Genetics.

AKT has an anti-apoptotic role in ABCA12-deficient keratinocytes.

M. Akiyama, H. Shimizu, Yuki Miyamura, 2011, Journal of Investigative Dermatology.

Extremely severe palmoplantar hyperkeratosis in a generalized epidermolytic hyperkeratosis patient with a keratin 1 gene mutation.

M. Akiyama, H. Shimizu, K. Izumi, 2011, Journal of the American Academy of Dermatology.

CYP4F22 is highly expressed at the site and timing of onset of keratinization during skin development.

M. Akiyama, H. Shimizu, Yuki Miyamura, 2012, Journal of dermatological science.

Self-improvement of keratinocyte differentiation defects during skin maturation in ABCA12-deficient harlequin ichthyosis model mice.

Yuki Miyamura, T. Kitahara, T. Yanagi, 2010, The American journal of pathology.