CFAP45, a heterotaxy and congenital heart disease gene, affects cilia stability

Congenital heart disease (CHD) is the most common and lethal birth defect, affecting 1.3 million individuals worldwide. During early embryogenesis, errors in Left-Right (LR) patterning called Heterotaxy (Htx) can lead to severe CHD. Many of the genetic underpinnings of Htx/CHD remain unknown. In ana...

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Veröffentlicht in:	Developmental biology 2023-07, Vol.499, p.75-88
Hauptverfasser:	Deniz, E., Pasha, M., Guerra, M.E., Viviano, S., Ji, W., Konstantino, M., Jeffries, L., Lakhani, S.A., Medne, L., Skraban, C., Krantz, I., Khokha, M.K.
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Body Patterning - genetics CFAP45 Cilia Cilia - genetics Cilia - metabolism congenital abnormalities Congenital heart disease embryogenesis frogs genes Heart Defects, Congenital - genetics Heart Defects, Congenital - metabolism heart diseases Heterotaxy Heterotaxy Syndrome - genetics homozygosity missense mutation Mutation, Missense patients Phenotype Xenopus Xenopus - abnormalities Xenopus Proteins - metabolism
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