Ectodermal dysplasias molecular mechanisms responsible for occurrence of most frequent syndroms / Dysplazje ektodermalne mechanizmy molekularne odpowiedzialne za wystepowanie najczestszych zespolów chorobowych.
Postepy Biochem
; 67(3): 248-258, 2021 09 30.
Article
em Pl
| MEDLINE
| ID: mdl-34894390
ABSTRACT
Ectodermal dysplasias are a wide group of genetic disorders characterised by clinical symptoms in ectodermal derivatives (most frequently teeth, hair, nails and sweat glands). There is a number of genes, which, if mutated, can cause the specified phenotype. The molecular basis of many ectodermal dysplasias have been investigated. The phenotype often results from the imparied communication in molecular pathways important in embryonic morphogenesis or disturbed function of protein complexes involved in homeostasis, adhesion and stability of the cells in the tissue. Different classification systems have been proposed to group ectodermal dysplasias according to clinical symptoms or molecular basis. Molecular technologies have let recently to expand diagnostic abilities for ectodermal dysplasias patients. Certainly in the nearest years new genes and mutations will be discovered as a cause of ectodermal dysplasias.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Displasia Ectodérmica
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
Idioma:
Pl
Ano de publicação:
2021
Tipo de documento:
Article