Fetal skin fibroblasts: A cell model for studying the retinoid pathway in congenital diaphragmatic hernia

Archive ouverte

Goumy, Carole | Coste, Karen | Marceau, Geoffroy | Gouas, Laetitia | Tchirkov, Andrei | Vago, Philippe | Gallot, Denis | Sapin, Vincent | Tchirkov, Andreã¯

Edité par CCSD ; Wiley -

International audience. Although there is strong evidence that genetic factors play a pathogenic role in congenital diaphragmatic hernia (CDH), few causal genes have been identified in humans. A number of studies, essentially in animal models, have suggested that disruption of the retinoid signaling pathway plays a major role in the pathogenesis of CDH. Our hypothesis is that human fetal skin fibroblasts express some metabolic and molecular actors of the retinoid pathway and that they offer convenient cellular material for investigating the molecular retinoid pathway defects associated with CDH.

Consulter en ligne

Suggestions

Du même auteur

Retinoid Pathway and Congenital Diaphragmatic Hernia: Hypothesis from the Analysis of Chromosomal Abnormalities

Archive ouverte | Goumy, Carole | CCSD

International audience. Although there is strong evidence implicating genetic factors in congenital diaphragmatic hernia (CDH) pathogenesis, few causal genes have been identified. Many studies suggest that early dis...

Reduced telomere length in amniocytes: an early biomarker of abnormal fetal development?

Archive ouverte | Goumy, Carole | CCSD

International audience. Abstract Telomeres protect chromosome ends and control cell division and senescence. During organogenesis, telomeres need to be long enough to ensure the cell proliferation necessary at this ...

An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3

Archive ouverte | Pebrel-Richard, Céline | CCSD

International audience

Chargement des enrichissements...