The ectodysplasin pathway: from diseases to adaptations

A Sadier, L Viriot, S Pantalacci, V Laudet - Trends in Genetics, 2014 - cell.com
The ectodysplasin (EDA) pathway, which is active during the development of ectodermal
organs, including teeth, hairs, feathers, and mammary glands, and which is crucial for fine …

Molecular basis of hypohidrotic ectodermal dysplasia: an update

WH Trzeciak, R Koczorowski - Journal of applied genetics, 2016 - Springer
Recent advances in understanding the molecular events underlying hypohidrotic
ectodermal dysplasia (HED) caused by mutations of the genes encoding proteins of the …

Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes

B Bergendal, J Klar, C Stecksén‐Blicks… - American Journal of …, 2011 - Wiley Online Library
Oligodontia is defined as the congenital lack of six or more permanent teeth, excluding third
molars. Oligodontia as well as hypodontia (lack of one or more permanent teeth) are highly …

Somitic positional information guides self-organized patterning of snake scales

AC Tzika, A Ullate-Agote, S Zakany, M Kummrow… - Science …, 2023 - science.org
Two influential concepts in tissue patterning are Wolpert's positional information and
Turing's self-organized reaction–diffusion (RD). The latter establishes the patterning of hair …

[HTML][HTML] Hypohidrotic ectodermal dysplasia

JT Wright, DK Grange, M Fete - 2017 - europepmc.org
Hypohidrotic ectodermal dysplasia (HED) is characterized by hypotrichosis (sparseness of
scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital …

Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia

J Plaisancié, I Bailleul‐Forestier… - American Journal of …, 2013 - Wiley Online Library
Ectodermal dysplasias (ED) are a clinically and genetically heterogeneous group of
hereditary disorders that have in common abnormal development of ectodermal derivatives …

A novel missense mutation in the gene EDARADD associated with an unusual phenotype of hypohidrotic ectodermal dysplasia

S Wohlfart, S Söder, A Smahi… - American Journal of …, 2016 - Wiley Online Library
Hypohidrotic ectodermal dysplasia (HED) is a rare disorder characterized by deficient
development of structures derived from the ectoderm including hair, nails, eccrine glands …

Hypohidrotic ectodermal dysplasia and immunodeficiency with coincident NEMO and EDA mutations

MD Keller, M Petersen, P Ong, J Church… - Frontiers in …, 2011 - frontiersin.org
Ectodermal dysplasias (ED) are uncommon genetic disorders resulting in abnormalities in
ectodermally derived structures. Many ED-associated genes have been described, of which …

The role of ectodysplasin a on the ocular surface homeostasis

S Ou, MV Jeyalatha, Y Mao, J Wang, C Chen… - International Journal of …, 2022 - mdpi.com
Ectodysplasin A (EDA), a ligand of the TNF family, plays an important role in maintaining the
homeostasis of the ocular surface. EDA is necessary for the development of the meibomian …

A rare heterozygous TRAF6 variant is associated with hypohidrotic ectodermal dysplasia

SA Wisniewski, WH Trzeciak - British Journal of Dermatology, 2012 - academic.oup.com
Background Mutations in the genes encoding components of the tumour necrosis factor
(TNF)‐α‐like pathway cause hypohidrotic ectodermal dysplasia (HED). It has been …