Results 81 to 90 of about 3,476 (222)

HED (Hypohidrotic Ectodermal Dysplasia):A Review [PDF]

, 2021
The ectodermal dysplasias (EDs) are a heterogeneous group of inherited, developmental disorders characterized by alterations in two or more ectodermal structures including the hair, teeth, nails and sweat glands.
Bashyam, Murali Dharan, Callea, Michele, Dogan, Mehmet Sinan, Scalisi, Francisco Cammarata, Willoughby, Colin Eric, Yavuz, Izzet   +5 more
core  

The face of Non‐photosensitive trichothiodystrophy phenotypic spectrum: A subsequent study on paediatric population

Molecular Genetics &Genomic Medicine, Volume 12, Issue 8, August 2024.
This is a novel study regarding the facial features of paediatric patients with the Non‐photosensitive TTD clinical spectrum. Abstract Background Non‐photosensitive trichothiodystrophies (TTDs) are a diverse group of genodermatoses within the subset of conditions known as “sulphur‐deficient brittle hair” syndromes. A part of them has only recently been
Giulia Pascolini, Martina Lipari, Federica Gaudioso, Luca Fania, Giovanni Di Zenzo, Biagio Didona   +5 more
wiley   +1 more source

A de Novo EDA-Variant in a Litter of Shorthaired Standard Dachshunds with X-Linked Hypohidrotic Ectodermal Dysplasia

G3: Genes, Genomes, Genetics, 2019
In this study, we present a detailed phenotype description and genetic elucidation of the first case of X-linked hypohidrotic ectodermal dysplasia in the shorthaired standard Dachshund. This condition is characterized by partial congenital hypotrichosis,
Danae Vasiliadis, Marion Hewicker-Trautwein, Daniela Klotz, Michael Fehr, Stefka Ruseva, Jennifer Arndt, Julia Metzger, Ottmar Distl   +7 more
doaj   +1 more source

Rehabilitation of ectodermal dysplasia patient with a telescopic denture in the maxilla and mandibular implant assisted overdenture: A case report

Clinical Case Reports, 2021
Hypohidrotic ectodermal dysplasia is a heritable disease, characterized by hypodontia, hypotrichosis, and anhidrosis. This clinical report demonstrates prosthetic rehabilitation of a patient complaining of impaired mastication and the odd appearance of ...
Heba Alajami, Jamal Saker
doaj   +1 more source

Tumor Necrosis Factors and Chemokines in Hair Development [PDF]

, 2012
Several embryonic organs, such as the hair follicle, develop as appendages of the ectoderm, the outermost layer of the embryo. These organs develop as a result of reciprocal tissue interactions between the surface epithelium and the underlying mesenchyme.
Lefebvre, Sylvie
core  

wnt10a is required for zebrafish median fin fold maintenance and adult unpaired fin metamorphosis

Developmental Dynamics, Volume 253, Issue 6, Page 566-592, June 2024.
Abstract Background Mutations of human WNT10A are associated with odonto‐ectodermal dysplasia syndromes. Here, we present analyses of wnt10a loss‐of‐function mutants in the zebrafish. Results wnt10a mutant zebrafish embryos display impaired tooth development and a collapsing median fin fold (MFF).
Erica L. Benard, Ismail Küçükaylak, Julia Hatzold, Kilian U. W. Berendes, Thomas J. Carney, Filippo Beleggia, Matthias Hammerschmidt   +6 more
wiley   +1 more source

Naturally occurring genetic diseases caused by de novo variants in domestic animals

Animal Genetics, Volume 55, Issue 3, Page 319-327, June 2024.
Abstract With the advent of next‐generation sequencing, an increasing number of cases of de novo variants in domestic animals have been reported in scientific literature primarily associated with clinically severe phenotypes. The emergence of new variants at each generation is a crucial aspect in understanding the pathology of early‐onset diseases in ...
Luísa Azevedo, Andreia P. Amaro, João Niza‐Ribeiro, Mónica Lopes‐Marques   +3 more
wiley   +1 more source

Ectodermal dysplasia: A report of two cases

Journal of Craniomaxillofacial Research, 2017
Introduction: Ectodermal dysplasia (ED) is a group of syndromes and disorders in the human body characterized by structural anomalies in the ectoderm and often associated with hair, teeth and skin abnormalities.
Mozhgan Kazemian, Farnoosh Razmara, Nafiseh Ghadiri Moghadam   +2 more
doaj  

Clinical and genetic characteristics of three patients with congenital insensitivity to pain with anhidrosis: Case reports and a review of the literature

Molecular Genetics &Genomic Medicine, Volume 12, Issue 4, April 2024.
Patients with congenital insensitivity to pain with anhidrosis typically present with cellulitis in their fingers and toes, often leading to amputation due to self‐mutilating behavior. Osteodystrophy can result from a history of recurrent infections and surgeries.
Jun Hee Cho, Soojin Hwang, Yoon Hae Kwak, Mi‐Sun Yum, Go Hun Seo, June‐Young Koh, Young Seok Ju, Ji‐Hee Yoon, Minji Kang, Hyo‐Sang Do, Soyoung Kim, Gu‐Hwan Kim, Hyunwoo Bae, Beom Hee Lee   +13 more
wiley   +1 more source

Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway [PDF]

, 2019
An international advisory group met at the National Institutes of Health in Bethesda, Maryland in 2017, to discuss a new classification system for the ectodermal dysplasias (EDs) that would integrate both clinical and molecular information.
Abbott, Becky, Bergendal, Birgitta, Butcher, Clayton, Clarke, Angus J., D'Souza, Rena N., Fete, Mary, Fete, Timothy, Hadj-Rabia, Smail, Koster, Maranke I., Morasso, Maria I., Pagnan, Nina, Schneider, Holm, Stanford, Clark, Sybert, Virginia P., Tadini, Gianluca, Visinoni, Atila F., Wright, John Timothy, Zinser, Madelaine   +17 more
core   +2 more sources