Classifying ectodermal dysplasias: Incorporating the molecular basis and pathways (Workshop II).
Détails
ID Serval
serval:BIB_35C234B5F399
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Synthèse (review): revue aussi complète que possible des connaissances sur un sujet, rédigée à partir de l'analyse exhaustive des travaux publiés.
Collection
Publications
Institution
Titre
Classifying ectodermal dysplasias: Incorporating the molecular basis and pathways (Workshop II).
Périodique
American journal of medical genetics. Part A
ISSN
1552-4833 (Electronic)
ISSN-L
1552-4825
Statut éditorial
Publié
Date de publication
09/2009
Peer-reviewed
Oui
Volume
149A
Numéro
9
Pages
2062-2067
Langue
anglais
Notes
Publication types: Journal Article
Publication Status: ppublish
Publication Status: ppublish
Résumé
Hereditary conditions are traditionally classified based either on physical/physiological attributes or using the names of the individuals credited with identifying the condition. For the 170 plus conditions classified as ectodermal dysplasias (EDs), both of these nosological systems are used, at times interchangeably. Over the past decade our knowledge of the human genome and the molecular basis of the EDs have greatly expanded providing the impetus to consider alternative classification systems. The incorporation of the molecular basis of hereditary conditions adds important information allowing effective transfer of objective genetic information that can be lacking from traditional classification systems. Molecular information can be added to the nosological system for the EDs through a hierarchical- and domain-based approach that encompasses the condition's name, mode of inheritance, molecular pathway affected, and specific molecular change. As new molecular information becomes available it can be effectively incorporated using this classification approach. Integrating molecular information into the ED classification system, while retaining well-recognized traditional syndrome names, facilitates communication at and between different groups of people including patients, families, health care providers, and researchers.
Mots-clé
Ectodermal Dysplasia/classification, Ectodermal Dysplasia/genetics, Ectodermal Dysplasia/physiopathology, Ectodysplasins/genetics, Genetic Predisposition to Disease, Genotype, Humans, Keratins/genetics, Molecular Biology/methods, Mutation, Proteins/genetics, Proteins/metabolism, Trans-Activators/genetics, Transcription Factors, Tumor Suppressor Proteins/genetics
Pubmed
Création de la notice
02/11/2017 12:30
Dernière modification de la notice
20/08/2019 13:23