Pathogenic genes and clinical therapeutic strategies for Treacher Collins syndrome / 华西口腔医学杂志
West China Journal of Stomatology
;
(6): 330-335, 2019.
Artigo
em Chinês
| WPRIM
| ID: wpr-772651
ABSTRACT
Treacher Collins syndrome is a congenital craniofacial malformation with autosomal dominant inheritance as the main genetic pattern. In this condition, the biosynthesis of ribosomes in neural crest cells and neuroepithelial cells is blocked and the number of neural crest cells that migrate to the craniofacial region decreases, causing first and second branchial arch dysplasia. Definite causative genes include treacle ribosome biogenesis factor 1 (tcof1), RNA polymerase Ⅰ and Ⅲ subunit C (polr1c), and RNA polymerase Ⅰ and Ⅲ subunit D (polr1d). This paper provides a review of research of three major patho-genic genes, pathogenesis, phenotypic research, prevention, and treatment of the syndrome.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fosfoproteínas
/
RNA Polimerases Dirigidas por DNA
/
Proteínas Nucleares
/
Genética
/
Disostose Mandibulofacial
/
Crista Neural
Limite:
Humanos
Idioma:
Chinês
Revista:
West China Journal of Stomatology
Ano de publicação:
2019
Tipo de documento:
Artigo
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