Results 21 to 30 of about 19,213 (227)
A Human-Derived Monoclonal Antibody Targeting Extracellular Connexin Domain Selectively Modulates Hemichannel Function [PDF]
, 2019 Connexin hemichannels, which are plasma membrane hexameric channels (connexons) composed of connexin protein protomers, have been implicated in a host of physiological processes and pathological conditions. A number of single point pathological mutations
Buratto, Damiano +12 more
core +1 more source
Harlequin ichthyosis: A case image from Syria
Clinical Case Reports, 2022 Harlequin ichthyosis is a rare autosomal recessive congenital ichthyosis with a distinct phenotypic appearance. It associated with a high mortality rate and affects both sexes equally.
Jacob Al‐Dabbagh +3 more
doaj +1 more source
Dupilumab for Trichothiodystrophy-Case Report and Review of the Literature. [PDF]
Clin Case RepABSTRACT Trichothiodystrophy (TTD) arises from pathogenic changes in several genes, most of which participate in DNA repair or transcriptional and translational processes. Atopic dermatitis may accompany TTD in a minority of cases. Dupilumab can offer a safe and effective treatment option for severe atopic dermatitis in this population.
O'Mahony J, O'Connor C.
europepmc +2 more sources
I Jornada de expertos en ictiosis [PDF]
, 2013 On June 22, 2012 the First Symposium of Ichthyosis Experts in Spain was held at the Hospital Niño de Jesús in Madrid. It was a one-day symposium for dermatologists, pediatricians, and physicians-in-training interested in this disease, as well as for ...
A. Hernández-Martín +10 more
core +3 more sources
CEDNIK: Phenotypic and molecular characterization of an additional patient and review of the literature [PDF]
, 2017 Synaptosomal-associated protein 29 (SNAP29) is a t-SNARE protein that is implicated in intracellular vesicle fusion. Mutations in the SNAP29 gene have been associated with cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome (CEDNIK). In
Coughlin, Carrie C +6 more
core +3 more sources
Indian Dermatology Online Journal, 2013 The present report describes the condition in a three day old male child with bilateral ,linear, hyperpigmented and hyperkeratotic verrucous plaques and patchy alopecia over scalpe without any nail and skeletal abnormalities. It was suggestive of ichthyosis hystrix type of epidermal nevus,and is being reported in view of the rarity of this condition.
Surajit Nayak +2 more
openaire +3 more sources
New developments in the molecular treatment of ichthyosis: review of the literature
Orphanet Journal of Rare Diseases, 2022 Ichthyosis covers a wide spectrum of diseases affecting the cornification of the skin. In recent years, new advances in understanding the pathophysiology of ichthyosis have been made.
M. D. W. Joosten +4 more
doaj +1 more source
Medeniyet Medical Journal, 2022 Objective: Ichthyosis is a clinically heterogeneous group of genodermatoses characterized by widespread drying and scaling of the skin. It is also a genetically heterogeneous disorder, and 67 genes associated with the disease have been identified to date.
Hanife SAAT +4 more
doaj +1 more source