Results 41 to 50 of about 1,001 (147)
Christ-Siemens-Touraine Syndrome: Case Report of 2 Brothers [PDF]
Journal of Clinical and Diagnostic Research, 2014 Ectodermal dysplasia is a rare disorder. Christ-Siemens-Touraine syndrome (Hypohidrotic Ectodermal dysplasia (HED)) is a diffuse, non-progressive disease present at birth and involves at least two tissues of ectodermal origin.
RITA V VORA +3 more
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Italian Journal of Pediatrics, 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.
Mario Tumminello +5 more
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Prenatal ultrasound findings of ectodermal dysplasia: a case report
BMC Pregnancy and Childbirth, 2022 Background Ectodermal Dysplasia is a diverse group of inherited disorders characterized by a congenital defect in two or more ectodermal structures. Due to a fairly low incidence, to the best of our knowledge there are few clues that can assist in making
Liang Li +3 more
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Molecular basis and genetics of hypohidrotic ectodermal dysplasias
Vavilov Journal of Genetics and Breeding, 2023 Ectodermal dysplasia (ED) is a heterogeneous group of hereditary diseases of the skin and its appendages, which are characterized by impaired development and/or homeostasis of two or more ectoderm derivatives, including: hair, teeth, nails, sweat glands and their modifications (mammary glands, for instance).
V. A. Kovalskaia +3 more
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Psychoeducational Characteristics of Children with Hypohidrotic Ectodermal Dysplasia [PDF]
The Scientific World Journal, 2012 Objective. Hypohidrotic ectodermal dysplasia (HED) is an X-linked hereditary disorder characterized by hypohidrosis, hypotrichosis, and anomalous dentition. Estimates of up to 50% of affected children having intellectual disability are controversial.Method.
Theresa M. Prosser +6 more
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Molecular basis of hypohidrotic ectodermal dysplasia: an update [PDF]
Journal of Applied Genetics, 2015 Recent advances in understanding the molecular events underlying hypohidrotic ectodermal dysplasia (HED) caused by mutations of the genes encoding proteins of the tumor necrosis factor α (TNFα)-related signaling pathway have been presented. These proteins are involved in signal transduction from ectoderm to mesenchyme during development of the fetus ...
Ryszard Koczorowski, Wieslaw H. Trzeciak
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Nature Communications, 2023 EDA variants are associated with X-linked hypohidrotic dysplasia. Here, the authors report the crystal structure of the human EDA-EDAR complex, reveal the important role of this complex in ectodermal development and uncover the structural mechanism of ...
Kang Yu +9 more
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Journal of Oral Research, 2022 Introduction: Ectodermal dysplasia is a rare genetic disorder that affects structures derived from ectoderm such as teeth, hair, nails, and sweat glands.
Héctor Rodríguez +4 more
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Recreating the missing smile: A case report on ectodermal dysplasia
SRM Journal of Research in Dental Sciences, 2012 Ectodermal dysplasia syndrome is a group of hereditary disorders affecting the structures developing from the ectoderm. More than 150 different types have been described with the most common being the hypohidrotic and the hidrotic types.
R Shakila +3 more
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Kdf1 Regulates Molar Cusp Morphogenesis via the PI3K/AKT/mTOR Signalling Axis
Cell Proliferation, EarlyView.Epithelial Kdf1 knockout disrupts molar cusp morphogenesis by promoting inner enamel epithelium proliferation and invagination via PI3K/AKT/mTOR signalling. ABSTRACT Keratinocyte differentiation factor 1 (Kdf1) reportedly plays a significant role in enamel formation.
Jiayu Wang +9 more
wiley +1 more source