Results 21 to 30 of about 737 (185)
First report of X-linked hypohidrotic ectodermal dysplasia with a hemizygous c.1142G > C in the EDA gene: variant of uncertain significance or new pathogenic variant? [PDF]
, 2021 Background: Hypohidrotic Ectodermal Dysplasia (HED) is a genetic disorder which affects structures of ectodermal origin. X-linked hypohidrotic ectodermal dysplasia (XLHED) is the most common form of disease.
Antonella Gangemi +5 more
core +1 more source
, 2022 Ectodermal dysplasias are a heterogeneous group of rare inherited disorders. Molecular findings and clarification of cell sig naling processes and ectodermal-mesenchyme interaction enabled the development of a clinical-functional model, which in turn ...
Antunes, D +3 more
core +1 more source
Presentation of hypohidrotic ectodermal dysplasia in two siblings
Journal of Indian Academy of Oral Medicine and Radiology, 2015 Ectodermal dysplasias are a large hereditary group of disorders which are usually manifested as X-linked recessive disorders and have a full expression in males, whereas females show little to no signs of the disorder.
Uday Ginjupally +3 more
doaj +1 more source
Česká Stomatologie a Praktické Zubní Lékařství, 2013 Background: Ectodermal dysplasia is a rare, genetically determined disease, which is characterized by alterations in two or more ectodermal structures, at least one of these involving alterations in hair, teeth, nails, or sweat glands.
L. Kramerová, E. Kaplová
doaj +1 more source
Prosthodontic management of hypohidrotic ectodermal dysplasia: a case report [PDF]
, 2015 Introduction: Ectodermal dysplasia (ED) is a hereditary disorder associated with developmental disorders of two or more structures of ectodermal embryonic origin.
Bajraktarova, B. +6 more
core +3 more sources
Experimental Dermatology, Volume 29, Issue 6, Page 520-530, June 2020., 2020 Abstract Background Desmosomes are intercellular cadherin‐mediated adhesion complexes that anchor intermediate filaments to the cell membrane and are required for strong adhesion for tissues under mechanical stress. One specific component of desmosomes is plakophilin 1 (PKP1), which is mainly expressed in the spinous layer of the epidermis.
Brent J. Doolan +7 more
wiley +1 more source
Mutation–proved Clouston syndrome in a large Indian family with a variant phenotype
Indian Journal of Dermatology, 2019 Hereditary ectodermal dysplasias, a group of disorders affecting skin, hair, nails, and teeth, consist of two main clinical forms – hypohidrotic and hidrotic.
Sangeeta Khatter +5 more
doaj +1 more source
An evaluation of clinical, radiological and three-dimensional dental tomography findings in ectodermal dysplasia cases [PDF]
, 2015 Background:This study aimed to review the results related to head and jaw disorders in cases of ectodermal dysplasia. The evaluation of ectodermal dysplasia cases was made by clincal examination and examination of the jaw and facial areas radiologically
Akkus, Zeki +9 more
core +2 more sources
Case Reports in Dentistry, Volume 2020, Issue 1, 2020., 2020 Aim. The management of hypohidrotic ectodermal dysplasia with oligodontia in Class‐I malocclusion in late mix dentition. Case Report. An 11‐year‐old boy with ED was treated and managed by means of interceptive orthodontic treatment accompanied by direct and indirect restorative methods in a successful manner.
A. A. A. K. Wimalarathna +3 more
wiley +1 more source
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