User profiles for Marie Legendre
Marie LegendreInserm, 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 …
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 …
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
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
structural and/or functional defects are associated with primary ciliary dyskinesia (PCD), a …