Publications by authors named "P Duquesnoy"
Article Synopsis
- - Primary ciliary dyskinesia (PCD) is a rare condition linked to dysfunctional cilia, primarily affecting males, but the study investigates the effects of X chromosome inactivation (XCI) in their healthy mothers who carry the mutation.
- - The analysis of six mothers revealed varying degrees of respiratory symptoms that correlated with their XCI patterns and the presence of normal ciliated cells in their airways.
- - The findings suggest that identifying female carriers of PCD mutations is essential, especially if they have mild respiratory issues, and highlight that having a sufficient proportion of normal ciliated cells can prevent severe symptoms, indicating potential for gene therapy.
Biallelic pathogenic variants in the surfactant protein (SP)-B gene (SFTPB) have been associated with fatal forms of interstitial lung diseases (ILD) in newborns and exceptional survival in young children. We herein report the cases of two related adults with pulmonary fibrosis due to a new homozygous SFTPB pathogenic variant, c.582G>A p.
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- A study was conducted on a family with a rare form of chronic urticarial lesions that are inherited dominantly and linked to elevated cytokine levels.
- Researchers used genetic analysis, whole-exome sequencing, and proteomic methods to identify the underlying causes and associated proteins related to the condition.
- The findings revealed a loss-of-function mutation in the RNF213 gene, affecting a protein called mysterin, which plays a significant role in regulating inflammation and understanding immune responses.
Introduction: Interstitial lung diseases (ILDs) can be caused by mutations in the and genes, which encode the surfactant protein (SP) complex SP-A. Only 11 or mutations have so far been reported worldwide, of which five have been functionally assessed. In the framework of ILD molecular diagnosis, we identified 14 independent patients with pathogenic or mutations.
View Article and Find Full Text PDFCilia and flagella are evolutionarily conserved organelles whose motility relies on the outer and inner dynein arm complexes (ODAs and IDAs). Defects in ODAs and IDAs result in primary ciliary dyskinesia (PCD), a disease characterized by recurrent airway infections and male infertility. PCD mutations in assembly factors have been shown to cause a combined ODA-IDA defect, affecting both cilia and flagella.
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