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Mutation in KANK2, encoding a sequestering protein for steroid receptor coactivators, causes keratoderma and woolly hairCollapse of the keratin filament network through the expression of mutant keratin 6c observed in a case of focal plantar keratodermaStratifin (14-3-3 σ) limits plakophilin-3 exchange with the desmosomal plaquePalmoplantar keratoderma along with neuromuscular and metabolic phenotypes in Slurp1-deficient miceA novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia.Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFRIntegrating animal models and in vitro tissue models to elucidate the role of desmosomal proteins in diseases.Desmosome assembly and dynamicsDesmosomes: regulators of cellular signaling and adhesion in epidermal health and disease.Desmosomal defects in acantholytic squamous cell carcinomas.Severe erytrodermic psoriasis in child twins: from clinical-pathological diagnosis to treatment of choice through genetic analyses: two case reports.Structure, function, and regulation of desmosomes.Cell cycle- and cancer-associated gene networks activated by Dsg2: evidence of cystatin A deregulation and a potential role in cell-cell adhesionSevere dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakinp63 control of desmosome gene expression and adhesion is compromised in AEC syndrome.Plakoglobin as a regulator of desmocollin gene expression.Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting.Genetic pathways in disorders of epidermal differentiation.Inherited blistering skin diseases: underlying molecular mechanisms and emerging therapies.Desmosomes and extradesmosomal adhesive signaling contacts in pemphigus.Epidermal barriersInherited desmosomal disorders.The twisting tale of woolly hair: a trait with many causes.Epidermal cell junctions and their regulation by p63 in health and disease.ER-to-Golgi blockade of nascent desmosomal cadherins in SERCA2-inhibited keratinocytes: Implications for Darier's disease.Intermediate Filaments and the Plasma Membrane.Epidermal Growth Factor Receptor neddylation is regulated by a desmosomal-COP9 (Constitutive Photomorphogenesis 9) signalosome complex.Is Grover's disease an autoimmune dermatosis?[New developments in hereditary blistering skin diseases].Inherited palmoplantar keratodermas: the heart of the matter.Keloid-derived keratinocytes exhibit an abnormal gene expression profile consistent with a distinct causal role in keloid pathology.What's in a disease name?
P2860
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P2860
description
article científic
@ca
article scientifique
@fr
articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
@pt
artigo científico
@pt-br
artikel ilmiah
@id
artikull shkencor
@sq
artículo científico
@es
name
Desmosomal genodermatoses.
@en
Desmosomal genodermatoses.
@nl
type
label
Desmosomal genodermatoses.
@en
Desmosomal genodermatoses.
@nl
prefLabel
Desmosomal genodermatoses.
@en
Desmosomal genodermatoses.
@nl
P2860
P1476
Desmosomal genodermatoses.
@en
P2093
J A McGrath
J E Mellerio
P2860
P356
10.1111/J.1365-2133.2011.10640.X
P407
P577
2012-01-01T00:00:00Z