(Q38285372)

1 September 2017

1 reference

title

Inherited desmosomal disorders (English)

1 reference

1 September 2017

Liat Samuelov

1

1 reference

1 September 2017

Eli Sprecher

series ordinal

2

1 reference

1 September 2017

publication date

9 December 2014

1 reference

1 September 2017

published in

Cell and Tissue Research

1 reference

1 September 2017

volume

360

1 reference

1 September 2017

issue

3

1 reference

1 September 2017

page(s)

457-475

1 reference

A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair

1 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Development of squamous cell carcinomas in Darier disease: a new model for skin carcinogenesis?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Arrhythmogenic right ventricular cardiomyopathy caused by deletions in plakophilin-2 and plakoglobin (Naxos disease) in families from Greece and Cyprus: genotype-phenotype relations, diagnostic features and prognosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Striate palmoplantar keratoderma resulting from a frameshift mutation in the desmoglein 1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Desmoglein 4 mutations underlie localized autosomal recessive hypotrichosis in humans, mice, and rats

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Desmoglein 4 is expressed in highly differentiated keratinocytes and trichocytes in human epidermis and hair follicle

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Human keratinocyte ATP2C1 localizes to the Golgi and controls Golgi Ca2+ stores

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Histopathological and ultrastructural study of ectodermal dysplasia/skin fragility syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Calcium signalling: dynamics, homeostasis and remodelling

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Embryonic heart and skin defects in mice lacking plakoglobin

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

C-cadherin ectodomain structure and implications for cell adhesion mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Elastase 2 is expressed in human and mouse epidermis and impairs skin barrier function in Netherton syndrome through filaggrin and lipid misprocessing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Suprabasal Dsg2 expression in transgenic mouse skin confers a hyperproliferative and apoptosis-resistant phenotype to keratinocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Kallikrein 5 induces atopic dermatitis-like lesions through PAR2-mediated thymic stromal lymphopoietin expression in Netherton syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Cell-cell connectivity: desmosomes and disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

An immunohistological study of desmosomes in Darier's disease and Hailey-Hailey disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Adhesion molecules and related proteins in Darier's disease and Hailey-Hailey disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Homo-oligomerization of human corneodesmosin is mediated by its N-terminal glycine loop domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

A new amyloidosis caused by fibrillar aggregates of mutated corneodesmosin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Endoplasmic reticulum Ca2+ depletion activates XBP1 and controls terminal differentiation in keratinocytes and epidermis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

SERCA2-controlled Ca²+-dependent keratinocyte adhesion and differentiation is mediated via the sphingolipid pathway: a therapeutic target for Darier's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Plakoglobin suppresses epithelial proliferation and hair growth in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Proteolytic regulation of Forkhead transcription factor FOXO3a by caspase-3-like proteases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Loss of desmocollin 3 in mice leads to epidermal blistering

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Assessment of splice variant-specific functions of desmocollin 1 in the skin

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Mice lacking desmocollin 1 show epidermal fragility accompanied by barrier defects and abnormal differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Direct Ca2+-dependent heterophilic interaction between desmosomal cadherins, desmoglein and desmocollin, contributes to cell-cell adhesion

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Desmocollin 3 is required for pre-implantation development of the mouse embryo

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Corneodesmosomal cadherins are preferential targets of stratum corneum trypsin- and chymotrypsin-like hyperactivity in Netherton syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Impaired trafficking of the desmoplakins in cultured Darier's disease keratinocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Mutations in the desmoglein 1 gene in five Pakistani families with striate palmoplantar keratoderma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

The differentiation-dependent desmosomal cadherin desmoglein 1 is a novel caspase-3 target that regulates apoptosis in keratinocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Cardiomyopathy with alopecia and palmoplantar keratoderma (CAPK) is caused by a JUP mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Calcium pump disorders of the skin

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Interaction of the bullous pemphigoid antigen 1 (BP230) and desmoplakin with intermediate filaments is mediated by distinct sequences within their COOH terminus

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Getting under the skin of epidermal morphogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Transgenic kallikrein 5 mice reproduce major cutaneous and systemic hallmarks of Netherton syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Desmoplakin is required early in development for assembly of desmosomes and cytoskeletal linkage

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Suppression of canonical Wnt/beta-catenin signaling by nuclear plakoglobin recapitulates phenotype of arrhythmogenic right ventricular cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Desmosome structure, composition and function

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Desmosomal adhesion: structural basis, molecular mechanism and regulation (Review).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Working out the strength and flexibility of desmosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Desmoglein 1-dependent suppression of EGFR signaling promotes epidermal differentiation and morphogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Are desmosomes more than tethers for intermediate filaments?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Desmosomes: new perspectives on a classic

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Requirement of plakophilin 2 for heart morphogenesis and cardiac junction formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Desmosomal cadherin misexpression alters beta-catenin stability and epidermal differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Desmoglein-1/Erbin interaction suppresses ERK activation to support epidermal differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Deconstructing desmoplakin

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

The function of plakophilin 1 in desmosome assembly and actin filament organization

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Ectodermal dysplasia-skin fragility syndrome: a novel mutation in the PKP1 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Novel mutations in DSG1 causing striate palmoplantar keratoderma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Desmoplakin regulates desmosome hyperadhesion

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Insights from a desmoplakin mutation identified in lethal acantholytic epidermolysis bullosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

The calcium ATPase SERCA2 regulates desmoplakin dynamics and intercellular adhesive strength through modulation of PKCα signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Structure and function of desmosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

A Keratinocyte’s Course of Life

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Netherton syndrome: skin inflammation and allergy by loss of protease inhibition

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Cathepsin D, but not cathepsin E, degrades desmosomes during epidermal desquamation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Order and disorder in corneocyte adhesion

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Assembly of desmosomal cadherins into desmosomes is isoform dependent

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Corneodesmosin, a component of epidermal corneocyte desmosomes, displays homophilic adhesive properties

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Diffuse nonepidermolytic palmoplantar keratoderma caused by a recurrent nonsense mutation in DSG1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Desmoglein 4 in Hair Follicle Differentiation and Epidermal Adhesion

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

A nonsense mutation in the desmoglein 1 gene underlies striate keratoderma

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Targeted disruption of the pemphigus vulgaris antigen (desmoglein 3) gene in mice causes loss of keratinocyte cell adhesion with a phenotype similar to pemphigus vulgaris

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

p63 induces key target genes required for epidermal morphogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

The amino-terminal domain of desmoplakin binds to plakoglobin and clusters desmosomal cadherin-plakoglobin complexes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

SOX4 interacts with plakoglobin in a Wnt3a-dependent manner in prostate cancer cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Corneodesmosin gene ablation induces lethal skin-barrier disruption and hair-follicle degeneration related to desmosome dysfunction.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Lack of plakoglobin in epidermis leads to keratoderma

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Cloning, sequence analysis and expression pattern of mouse desmocollin 2 (DSC2), a cadherin-like adhesion molecule

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Evidence for a role of corneodesmosin, a protein which may serve to modify desmosomes during cornification, in stratum corneum cell cohesion and desquamation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Plakoglobin (gamma-catenin) has TCF/LEF family-dependent transcriptional activity in beta-catenin-deficient cell line

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Identification of the first nonsense CDSN mutation with expression of a truncated protein causing peeling skin syndrome type B.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Autoimmunity to desmocollin 3 in pemphigus vulgaris

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Targeted deletion of the murine corneodesmosin gene delineates its essential role in skin and hair physiology

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Effects of ultraviolet B irradiation, proinflammatory cytokines and raised extracellular calcium concentration on the expression of ATP2A2 and ATP2C1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

WOLOSHIN AA: Darier's disease. An evaluation of its neuropsychiatric component.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Two-hybrid analysis reveals fundamental differences in direct interactions between desmoplakin and cell type-specific intermediate filaments

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

The structure and function of the stratum corneum

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

ER signaling is activated to protect human HaCaT keratinocytes from ER stress induced by environmental doses of UVB.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Suprabasal desmoglein 3 expression in the epidermis of transgenic mice results in hyperproliferation and abnormal differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Gap junctions: basic structure and function.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Corneodesmosin, a corneodesmosome-specific basic protein, is expressed in the cornified epithelia of the pig, guinea pig, rat, and mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Arrhythmogenic right ventricular cardiomyopathy (Naxos disease): report of a Turkish boy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Membrane-impermeable cross-linking provides evidence for homophilic, isoform-specific binding of desmosomal cadherins in epithelial cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Tight junctions/adherens junctions: basic structure and function

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Molecular components of the adherens junction.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Distinct desmocollin isoforms occur in the same desmosomes and show reciprocally graded distributions in bovine nasal epidermis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Loss of the Atp2c1 secretory pathway Ca(2+)-ATPase (SPCA1) in mice causes Golgi stress, apoptosis, and midgestational death in homozygous embryos and squamous cell tumors in adult heterozygotes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Deficient plakophilin-1 expression due to a mutation in PKP1 causes ectodermal dysplasia-skin fragility syndrome in Chesapeake Bay retriever dogs

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

The fourth armadillo repeat of plakoglobin (gamma-catenin) is required for its high affinity binding to the cytoplasmic domains of E-cadherin and desmosomal cadherin Dsg2, and the tumor suppressor APC protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

No evidence of skin blisters with human desmocollin-3 gene mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

The vertebrate adhesive junction proteins beta-catenin and plakoglobin and the Drosophila segment polarity gene armadillo form a multigene family with similar properties

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Desmosomal genodermatoses

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Cardiac abnormalities in familial palmoplantar keratosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

IgG autoantibodies against desmocollin 3 in pemphigus sera induce loss of keratinocyte adhesion

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

A recurrent intragenic deletion mutation in DSG4 gene in three Pakistani families with autosomal recessive hypotrichosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Hailey-Hailey disease and tight junctions: Claudins 1 and 4 are regulated by ATP2C1 gene encoding Ca(2+) /Mn(2+) ATPase SPCA1 in cultured keratinocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Mutation in KANK2, encoding a sequestering protein for steroid receptor coactivators, causes keratoderma and woolly hair

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Peeling off the genetics of atopic dermatitis-like congenital disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Two cases of pemphigus vegetans with IgG anti-desmocollin 3 antibodies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Darier disease : a disease model of impaired calcium homeostasis in the skin

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

SERCA2 dysfunction in Darier disease causes endoplasmic reticulum stress and impaired cell-to-cell adhesion strength: rescue by Miglustat

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Plakophilins 1a and 1b: widespread nuclear proteins recruited in specific epithelial cells as desmosomal plaque components

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Epidermal barrier formation and recovery in skin disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Desmoplakin I and II in acantholytic dermatoses: preservation in pemphigus vulgaris and pemphigus erythematosus and dissolution in Hailey-Hailey's disease and Darier's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Immunolocalization of Desmoglein I (“Band 3” Polypeptide) on Acantholytic Cells in Pemphigus Vulgaris, Darier's Disease, and Hailey-Hailey's Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Congenital hair loss disorders: rare, but not too rare

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Gene knockout studies of Ca2+-transporting ATPases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Refined characterization of corneodesmosin proteolysis during terminal differentiation of human epidermis and its relationship to desquamation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Deconstructing the skin: cytoarchitectural determinants of epidermal morphogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Plakophilin-3-deficient mice develop hair coat abnormalities and are prone to cutaneous inflammation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Plakophilin-1 localizes to the nucleus and interacts with single-stranded DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Homozygous splice site mutations in PKP1 result in loss of epidermal plakophilin 1 expression and underlie ectodermal dysplasia/skin fragility syndrome in two consanguineous families

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Functional analysis of desmoplakin domains: specification of the interaction with keratin versus vimentin intermediate filament networks

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

A missense mutation in the type II hair keratin hHb3 is associated with monilethrix

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Ultrastructural localization of cell junctional components (desmoglein, plakoglobin, E-cadherin, and beta-catenin) in Hailey-Hailey disease, Darier's disease, and pemphigus vulgaris.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Inflammatory peeling skin syndrome caused a novel mutation in CDSN.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Desmoplakin is essential in epidermal sheet formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Cadherins as Modulators of Cellular Phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Acantholytic ectodermal dysplasia: clinicopathological study of a new desmosomal disorder.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

A novel nonsense mutation in the CDSN gene underlying hypotrichosis simplex of the scalp in a Chinese family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

21 January 2018

ER stress and diseases.

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Compound heterozygosity for new splice site mutations in the plakophilin 1 gene (PKP1) in a Chinese case of ectodermal dysplasia-skin fragility syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Differential mechanisms of LEF/TCF family-dependent transcriptional activation by beta-catenin and plakoglobin

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

A non-sense mutation in the corneodesmosin gene in a Mexican family with hypotrichosis simplex of the scalp

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Inflammatory peeling skin syndrome caused by homozygous genomic deletion in thePSORS1region encompassing theCDSNgene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Elevated Human Tissue Kallikrein Levels in the Stratum Corneum and Serum of Peeling Skin Syndrome-Type B Patients Suggests an Over-desquamation of Corneocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

Focal Palmoplantar Keratoderma Caused by an Autosomal Dominant Inherited Mutation in the Desmoglein 1 Gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00441-014-2062-Y

10.1007/S00441-014-2062-Y

21 January 2018

Identifiers

DOI

1 reference

Dimensions Publication ID

1 September 2017

1004157020

0 references

1 reference