Results 51 to 60 of about 2,841 (212)
Pregnancy, Volume 2, Issue 3, May 2026.Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld +5 more
wiley +1 more source
Clinical Case Reports, Volume 14, Issue 4, April 2026.ABSTRACT Hypohidrotic ectodermal dysplasia (HED) is a rare congenital disorder characterized by abnormal development of ectodermal structures including hair, teeth, nails, and sweat glands. Dental manifestations such as anodontia or hypodontia can significantly impair mastication, speech development, facial esthetics, and psychosocial well‐being ...
Nazera Ahmadzai +5 more
wiley +1 more source
Contemporary Clinical Dentistry, 2015 Ectodermal dysplasia is a heterogeneous group of inherited disorders, which exhibit a classic triad of hypohydrosis, hypotrichosis, and hypodontia. Hypohidrotic or anhidrotic ectodermal dysplasia or Christ Siemens Touraine syndrome is the most common ...
Navanith Renahan +3 more
doaj +1 more source
Direct and indirect action modes of acetylcholine in cholinergic urticaria
Allergology International, 2021 Cholinergic urticaria (CholU) manifests small, itchy and/or painful wheals occurring upon perspiration and mechanically involving acetylcholine (Ach).
Yoshiki Tokura
doaj +1 more source
Kdf1 Regulates Molar Cusp Morphogenesis via the PI3K/AKT/mTOR Signalling Axis
Cell Proliferation, Volume 59, Issue 3, March 2026.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
Christ–Siemens–Touraine syndrome: A rare case report
Journal of Pharmacy and Bioallied Sciences, 2019 Christ–Siemens–Touraine syndrome/hypohidrotic ectodermal dysplasia (HED) is a heterogeneous group of inherited disorders with primary defects in tissues derived from embryonic ectoderm such as hair, tooth, nail, and sweat glands.
Anoop Kumar +3 more
doaj +1 more source
Molecular Genetics & Genomic Medicine, 2021 Background Hypohidrotic ectodermal dysplasia (HED) is mainly caused by ectodysplasin A (EDA) gene mutation. Fetus with genetic deficiency of EDA can be prenatally corrected.
Kang Yu +5 more
doaj +1 more source
Auto-percepção dos portadores de Amelogênese Imperfeita e Displasia [PDF]
, 2012 TCC (graduação) - Universidade Federal de Santa Catarina. Centro de Ciências da Saúde. Odontologia.A Amelogênese Imperfeita é um distúrbio hereditário caracterizado pela formação anormal de esmalte, o que gera dentes com alteração de cor, sensibilidade e
Klita, Ana Paula Haisi
core
Cellular & Molecular Biology Letters, 2019 Purpose Ectodermal dysplasias are characterized by developmental abnormalities in ectodermal structures. Hypohidrotic ectodermal dysplasias (HED) are the most common subtype. They are most commonly inherited via X-linked recessive routes.
Marzieh Rahbaran +5 more
doaj +1 more source
The Roles of EDA2R in Ageing and Disease
Aging Cell, Volume 24, Issue 12, December 2025.Elevated expression of the ectodysplasin A2 receptor (EDA2R) has been linked to ageing and disease. We appraise the roles of EDA2R in these processes, exploring mechanisms of action, biomarker potential and therapeutic relevance of EDA2R in multiple contexts. ABSTRACT Ageing is a complex biological process driven, in part, by inflammaging.
Gemma Farrington +9 more
wiley +1 more source