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2002 | 43 | 1 | 97-107
Article title

Recent advances in understanding of the molecular basis of anhidrotic ectodermal dysplasia: discovery of a ligand, ectodysplasin A and its two receptors

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Languages of publication
EN
Abstracts
EN
Recent developments of the investigations on the molecular basis of anhidrotic ectodermal dysplasia are reviewed. Identification of the major product of the EDA gene (ectodysplasin A), a protein belonging to a group of TNF ligands, and molecular cloning of the cDNA, encoding its receptor (EDAR), a member of the TNF receptor family, are presented. The role of an alternative EDA receptor, localised on the X chromosome (XEDAR) in the developmental control of the differentiation of skin appendages, is discussed. Recent findings have elucidated the cause of the autosomal forms of EDA, both dominant and recessive, and indicated an important role of a signal transduction pathway involving a protein product of the NEMO gene and the transcription factor NFkB in the differentiation of skin appendages.
Discipline
Year
Volume
43
Issue
1
Pages
97-107
Physical description
References
Document Type
REVIEW
Publication order reference
W.H. Trzeciak, Department of Biochemistry and Molecular Biology, ul. Swiecickiego 6, 60-781 Poznan, Poland
YADDA identifier
bwmeta1.element.element-from-psjc-480fa7e1-fd79-3768-9eb3-ad8d72c1f218
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