Results 41 to 50 of about 29,876 (307)
A Human-Derived Monoclonal Antibody Targeting Extracellular Connexin Domain Selectively Modulates Hemichannel Function [PDF]
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
For a quarter of the century, tremendous advances have been achieved in our understanding of the pathogenic mechanisms and relevant genetic defects underlying ichthyoses and ichthyosis syndromes.
M. Akiyama
semanticscholar +1 more source
I Jornada de expertos en ictiosis [PDF]
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
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
X‐linked ichthyosis: Molecular findings in four pedigrees with inconspicuous clinical manifestations
X‐linked ichthyosis (XLI) is the second most common type of ichthyosis, which is characterized by wide and symmetric distribution of adherent, dry, and polygonal scales on the skin.
Min Zhang+9 more
semanticscholar +1 more source
A 6-year-old African boy with a history of a collodion membrane presented with scale in a generalized distribution and flexural accentuation. Large, brown, polygonal scales were present on the forehead, lateral aspects of the face, and extremities. The nature of the scales and the lack of erythroderma in this patient are consistent with a mild form of ...
Victor, Frank, Schaffer, Julie V
openaire +4 more sources
Ichthyosis also called fish scale disease is a group of skin diseases, which are characterised by xerosis and scaling. Most commonly, the diseases are genetically inherited, but an acquired type also exists.
I. L. Dorf, M. Sommerlund, U. Koppelhus
semanticscholar +1 more source