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Nagashima-Type Palmoplantar Keratosis: A Common Asian Type Caused by SERPINB7 Protease Inhibitor Deficiency

Journal of investigative dermatology, 2014-08, Vol.134 (8), p.2076-2079

Kubo, Akiharu

2014

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Epidermal barrier dysfunction and cutaneous sensitization in atopic diseases

The Journal of clinical investigation, 2012-02, Vol.122 (2), p.440-447

2012

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Phakomatosis Pigmentokeratotica

The New England journal of medicine, 2019-10, Vol.381 (15), p.1458-1458

2019

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Hereditary palmoplantar keratoderma "clinical and genetic differential diagnosis"

Journal of dermatology, 2016-03, Vol.43 (3), p.264-274

2016

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E-cadherin integrates mechanotransduction and EGFR signaling to control junctional tissue polarization and tight junction positioning

Nature communications, 2017-11, Vol.8 (1), p.1250-16, Article 1250

2017

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Epidermal cell turnover across tight junctions based on Kelvin's tetrakaidecahedron cell shape

eLife, 2016-11, Vol.5

2016

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A homozygous nonsense mutation in the gene for Tmem79 , a component for the lamellar granule secretory system, produces spontaneous eczema in an experimental model of atopic dermatitis

Journal of allergy and clinical immunology, 2013-11, Vol.132 (5), p.1111-1120.e4

2013

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Altered stratum corneum barrier and enhanced percutaneous immune responses in filaggrin-null mice

Journal of allergy and clinical immunology, 2012-06, Vol.129 (6), p.1538-1546.e6

2012

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Functional tight junction barrier localizes in the second layer of the stratum granulosum of human epidermis

Journal of dermatological science, 2013-08, Vol.71 (2), p.89-99

2013

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Homeostatic pruning and activity of epidermal nerves are dysregulated in barrier-impaired skin during chronic itch development

Scientific reports, 2019-06, Vol.9 (1), p.8625-15, Article 8625

2019

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Epidermal tight junction barrier function is altered by skin inflammation, but not by filaggrin-deficient stratum corneum

Journal of dermatological science, 2015-01, Vol.77 (1), p.28-36

2015

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Zonula occludens‐1 distribution and barrier functions are affected by epithelial proliferation and turnover rates

Cell proliferation, 2023-09, Vol.56 (9), p.e13441-n/a

2023

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Stress-induced production of chemokines by hair follicles regulates the trafficking of dendritic cells in skin

Nature immunology, 2012-08, Vol.13 (8), p.744-752

2012

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Splice site mutation in COL7A1 resulting in aberrant in‐frame transcripts identified in a case of recessive dystrophic epidermolysis bullosa, pretibial

Journal of dermatology, 2018-06, Vol.45 (6), p.742-745

2018

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Autosomal dominant familial acanthosis nigricans caused by a C-terminal nonsense mutation of FGFR3

Journal of human genetics, 2021-08, Vol.66 (8), p.831-834

2021

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Palmar whitish change after water exposure in a familial mild case of loricrin keratoderma (loricrin ichthyosis)

Journal of dermatology, 2022-11, Vol.49 (11), p.e405-e406

2022

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Clinical severity scores as a guide for prediction of initial treatment responses in pemphigus and pemphigoid patients

Journal of dermatology, 2023-02, Vol.50 (2), p.203-211

2023

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Differential Pathomechanisms of Desmoglein 1 Transmembrane Domain Mutations in Skin Disease

Journal of investigative dermatology, 2022-02, Vol.142 (2), p.323-332.e8

2022

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Distinct behavior of human Langerhans cells and inflammatory dendritic epidermal cells at tight junctions in patients with atopic dermatitis

Journal of allergy and clinical immunology, 2014-10, Vol.134 (4), p.856-864

2014

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Japanese guidelines for the management of palmoplantar keratoderma

Journal of dermatology, 2021-08, Vol.48 (8), p.e353-e367

2021

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A homozygous frameshift mutation in the mouse Flg gene facilitates enhanced percutaneous allergen priming

Nature genetics, 2009-05, Vol.41 (5), p.602-608

2009

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Autoimmune progesterone dermatitis treated with dienogest: A case report

Journal of dermatology, 2022-10, Vol.49 (10), p.e391-e392

2022

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Holocrine Secretion Occurs outside the Tight Junction Barrier in Multicellular Glands: Lessons from Claudin-1–Deficient Mice

Journal of investigative dermatology, 2020-02, Vol.140 (2), p.298-308.e5

2020

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Neonatal Linear IgA Bullous Dermatosis Mediated by Breast Milk-Borne Maternal IgA

JAMA dermatology (Chicago, Ill.), 2021-09, Vol.157 (9), p.1107

2021

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Mutations in SERPINB7, Encoding a Member of the Serine Protease Inhibitor Superfamily, Cause Nagashima-type Palmoplantar Keratosis

American journal of human genetics, 2013-11, Vol.93 (5), p.945-956

2013

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Nagashima-Type Palmoplantar Keratosis: A Common Asian Type Caused by SERPINB7 Protease Inhibitor Deficiency

Epidermal barrier dysfunction and cutaneous sensitization in atopic diseases

Phakomatosis Pigmentokeratotica

Hereditary palmoplantar keratoderma "clinical and genetic differential diagnosis"

E-cadherin integrates mechanotransduction and EGFR signaling to control junctional tissue polarization and tight junction positioning

Epidermal cell turnover across tight junctions based on Kelvin's tetrakaidecahedron cell shape

A homozygous nonsense mutation in the gene for Tmem79 , a component for the lamellar granule secretory system, produces spontaneous eczema in an experimental model of atopic dermatitis

Altered stratum corneum barrier and enhanced percutaneous immune responses in filaggrin-null mice

Functional tight junction barrier localizes in the second layer of the stratum granulosum of human epidermis

Homeostatic pruning and activity of epidermal nerves are dysregulated in barrier-impaired skin during chronic itch development

Epidermal tight junction barrier function is altered by skin inflammation, but not by filaggrin-deficient stratum corneum

Zonula occludens‐1 distribution and barrier functions are affected by epithelial proliferation and turnover rates

Stress-induced production of chemokines by hair follicles regulates the trafficking of dendritic cells in skin

Splice site mutation in COL7A1 resulting in aberrant in‐frame transcripts identified in a case of recessive dystrophic epidermolysis bullosa, pretibial

Autosomal dominant familial acanthosis nigricans caused by a C-terminal nonsense mutation of FGFR3

Palmar whitish change after water exposure in a familial mild case of loricrin keratoderma (loricrin ichthyosis)

Clinical severity scores as a guide for prediction of initial treatment responses in pemphigus and pemphigoid patients

Differential Pathomechanisms of Desmoglein 1 Transmembrane Domain Mutations in Skin Disease

Distinct behavior of human Langerhans cells and inflammatory dendritic epidermal cells at tight junctions in patients with atopic dermatitis

Japanese guidelines for the management of palmoplantar keratoderma

A homozygous frameshift mutation in the mouse Flg gene facilitates enhanced percutaneous allergen priming

Autoimmune progesterone dermatitis treated with dienogest: A case report

Holocrine Secretion Occurs outside the Tight Junction Barrier in Multicellular Glands: Lessons from Claudin-1–Deficient Mice

Neonatal Linear IgA Bullous Dermatosis Mediated by Breast Milk-Borne Maternal IgA

Mutations in SERPINB7, Encoding a Member of the Serine Protease Inhibitor Superfamily, Cause Nagashima-type Palmoplantar Keratosis

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