User profiles for Marie Legendre

Marie Legendre

Inserm, Sorbonne Université and Assistance Publique des Hopitaux de Paris
Verified email at aphp.fr
Cited by 4619

[HTML][HTML] Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature

J Pantel, M Legendre, S Cabrol, L Hilal… - The Journal of …, 2006 - Am Soc Clin Investig
The growth hormone (GH) secretagogue receptor (GHSR) was cloned as the target of a family
of synthetic molecules endowed with GH release properties. As shown recently through in …

European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia

…, M Jorissen, P Latzin, M Legendre… - European …, 2017 - Eur Respiratory Soc
The diagnosis of primary ciliary dyskinesia is often confirmed with standard, albeit complex
and expensive, tests. In many cases, however, the diagnosis remains difficult despite the …

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs

AC Merveille, EE Davis, A Becker-Heck, M Legendre… - Nature …, 2011 - nature.com
Primary ciliary dyskinesia (PCD) is an inherited disorder characterized by recurrent infections
of the upper and lower respiratory tract, reduced fertility in males and situs inversus in …

Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling

…, A Coulomb l'Hermine, M Depp, M Legendre… - Journal of Experimental …, 2020 - rupress.org
Heterozygous missense mutations in coatomer protein subunit α, COPA, cause a syndrome
overlapping clinically with type I IFN-mediated disease due to gain-of-function in STING, a …

[PDF][PDF] Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia

…, A Coste, A Deschildre, J de Blic, M Legendre… - The American Journal of …, 2009 - cell.com
Cilia and flagella are evolutionarily conserved structures that play various physiological roles
in diverse cell types. Defects in motile cilia result in primary ciliary dyskinesia (PCD), the …

[PDF][PDF] Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects

E Kott, M Legendre, B Copin, JF Papon… - The American Journal of …, 2013 - cell.com
Primary ciliary dyskinesia (PCD) is a rare autosomal-recessive respiratory disorder resulting
from defects of motile cilia. Various axonemal ultrastructural phenotypes have been …

[PDF][PDF] Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia

E Kott, P Duquesnoy, B Copin, M Legendre… - The American Journal of …, 2012 - cell.com
Primary ciliary dyskinesia (PCD) is a group of autosomal-recessive disorders resulting from
cilia and sperm-flagella defects, which lead to respiratory infections and male infertility. Most …

Motile cilia and airway disease

M Legendre, LE Zaragosi, HM Mitchison - Seminars in cell & …, 2021 - Elsevier
A finely regulated system of airway epithelial development governs the differentiation of
motile ciliated cells of the human respiratory tract, conferring the body’s mucociliary clearance …

[HTML][HTML] X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

…, A Shoemark, S Kiviluoto, M Legendre… - Nature …, 2017 - nature.com
By moving essential body fluids and molecules, motile cilia and flagella govern respiratory
mucociliary clearance, laterality determination and the transport of gametes and …

[PDF][PDF] Mutations in DNAH17, encoding a sperm-specific axonemal outer dynein arm heavy chain, cause isolated male infertility due to asthenozoospermia

…, S Amselem, V Mitchell, A Touré, M Legendre - The American Journal of …, 2019 - cell.com
Motile cilia and sperm flagella share an evolutionarily conserved axonemal structure. Their
structural and/or functional defects are associated with primary ciliary dyskinesia (PCD), a …