Search Results - "Escalier, Denise"

Mutations in DNAH1, which Encodes an Inner Arm Heavy Chain Dynein, Lead to Male Infertility from Multiple Morphological Abnormalities of the Sperm Flagella by Ben Khelifa, Mariem, Coutton, Charles, Zouari, Raoudha, Karaouzène, Thomas, Rendu, John, Bidart, Marie, Yassine, Sandra, Pierre, Virginie, Delaroche, Julie, Hennebicq, Sylviane, Grunwald, Didier, Escalier, Denise, Pernet-Gallay, Karine, Jouk, Pierre-Simon, Thierry-Mieg, Nicolas, Touré, Aminata, Arnoult, Christophe, Ray, Pierre F.

“…Ten to fifteen percent of couples are confronted with infertility and a male factor is involved in approximately half the cases. A genetic etiology is likely…”
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Loss-of-Function Mutations in the Human Ortholog of Chlamydomonas reinhardtii ODA7 Disrupt Dynein Arm Assembly and Cause Primary Ciliary Dyskinesia by Duquesnoy, Philippe, Escudier, Estelle, Vincensini, Laetitia, Freshour, Judy, Bridoux, Anne-Marie, Coste, André, Deschildre, Antoine, de Blic, Jacques, Legendre, Marie, Montantin, Guy, Tenreiro, Henrique, Vojtek, Anne-Marie, Loussert, Céline, Clément, Annick, Escalier, Denise, Bastin, Philippe, Mitchell, David R., Amselem, Serge

“…Cilia and flagella are evolutionarily conserved structures that play various physiological roles in diverse cell types. Defects in motile cilia result in…”
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Septins at the annulus of mammalian sperm by Toure, Aminata, Rode, Baptiste, Hunnicutt, Gary R, Escalier, Denise, Gacon, Gérard

“…The annulus is an electron-dense ring structure connecting the midpiece and the principal piece of the mammalian sperm flagellum. Proteins from the septin…”
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common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia by Duriez, Bénédicte, Duquesnoy, Philippe, Escudier, Estelle, Bridoux, Anne-Marie, Escalier, Denise, Rayet, Isabelle, Marcos, Elisabeth, Vojtek, Anne-Marie, Bercher, Jean-François, Amselem, Serge

“…Thioredoxins belong to a large family of enzymatic proteins that function as general protein disulfide reductases, therefore participating in several cellular…”
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New Insights into the Assembly of the Periaxonemal Structures in Mammalian Spermatozoa by Escalier, Denise

“…Disruption of Ube2b in the mouse has revealed that the regular and symmetric organization of the fibrous sheath of the sperm flagella is dependent on…”
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The Testis Anion Transporter 1 (Slc26a8) is required for sperm terminal differentiation and male fertility in the mouse by Touré, Aminata, Lhuillier, Pierre, Gossen, Jan A., Kuil, Cor W., Lhôte, David, Jégou, Bernard, Escalier, Denise, Gacon, Gérard

“…The Slc26 family is a conserved family of anion transporters. In the human, their physiological relevance was highlighted with the discovery of pathogenic…”
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Knockout mouse models of sperm flagellum anomalies by Escalier, Denise

“…To date, 21 knockout mouse models are known to bear specific anomalies of the sperm flagellum structures leading to motility disorders. In addition, genes…”
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XMR, a dual location protein in the XY pair and in its associated nucleolus in mouse spermatocytes by Escalier, Denise, Garchon, Henri-Jean

“…Xlr and Xmr are sex‐specific genes which are expressed during the meiotic prophase I in the mouse. In spermatocytes, XMR concentrates on the asynapsed regions…”
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Spermatid nuclear and sperm periaxonemal anomalies in the mouse Ube2b null mutant by Escalier, Denise, Bai, Xi-Yuan, Silvius, Derek, Xu, Pin-Xian, Xu, Xin

“…Ube2b (yeast Ubc2b/Rad6 homolog) null mice were described previously. Ube2b encodes the murine ubiquitin conjugating enzyme mHR6B. Ube2b−/− mice were shown to…”
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Sex-Specific Gene Expression During Meiotic Prophase I: Xlr (X Linked, Lymphocyte Regulated), Not Its Male Homologue Xmr (Xlr Related, Meiosis Regulated), Is Expressed in Mouse Oocytes by Escalier, Denise, Eloy, Laure, Garchon, Henri-Jean

“…The Xmr (Xlr related, meiosis regulated) gene product is abundantly expressed in primary spermatocytes and is notably associated with nonrecombining segments…”
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Loss-of-Function Mutations in LRRC6, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms, Cause Primary Ciliary Dyskinesia by KOTT, Esther, DUQUESNOY, Philippe, RIVES, Nathalie, MITCHELL, Valérie, DE BLIC, Jacques, COSTE, André, CLEMENT, Annick, ESCALIER, Denise, TOURE, Aminata, ESCUDIER, Estelle, AMSELEM, Serge, COPIN, Bruno, LEGENDRE, Marie, DASTOT-LE MOAL, Florence, MONTANTIN, Guy, JEANSON, Ludovic, TAMALET, Aline, PAPON, Jean-François, SIFFROI, Jean-Pierre

“…Primary ciliary dyskinesia (PCD) is a group of autosomal-recessive disorders resulting from cilia and sperm-flagella defects, which lead to respiratory…”
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Missense Mutations in SLC26A8, Encoding a Sperm-Specific Activator of CFTR, Are Associated with Human Asthenozoospermia by Dirami, Thassadite, Rode, Baptiste, Jollivet, Mathilde, Da Silva, Nathalie, Escalier, Denise, Gaitch, Natacha, Norez, Caroline, Tuffery, Pierre, Wolf, Jean-Philippe, Becq, Frédéric, Ray, Pierre F., Dulioust, Emmanuel, Gacon, Gérard, Bienvenu, Thierry, Touré, Aminata

“…The cystic fibrosis transmembrane conductance regulator (CFTR) is present in mature sperm and is required for sperm motility and capacitation. Both these…”
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New fibrous sheath anomaly in spermatozoa of men with consanguinity by Escalier, Denise, Albert, Martine

“…The cause of the sperm motility impairment was investigated in infertile men. Case report. University-based andrology laboratory. Two unrelated consanguineous…”
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A 21-kDa Polypeptide Belonging to a New Family of Proteins Is Expressed in the Golgi Apparatus of Neural and Germ Cells by Sabéran-Djoneidi, Délara, Picart, Renée, Escalier, Denise, Gelman, Michèle, Barret, Alain, Tougard, Claude, Glowinski, Jacques, Lévi-Strauss, Matthieu

“…We have isolated a full-length murine clone corresponding to the rat neuronal p1A75 partial cDNA (Sutcliffe, J. G., Milner, R. J., Shinnick, T. M., and Bloom,…”
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Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia by Blanchon, Sylvain, Legendre, Marie, Copin, Bruno, Duquesnoy, Philippe, Montantin, Guy, Kott, Esther, Dastot, Florence, Jeanson, Ludovic, Cachanado, Marine, Rousseau, Alexandra, Papon, Jean François, Beydon, Nicole, Brouard, Jacques, Crestani, Bruno, Deschildre, Antoine, Désir, Julie, Dollfus, Hélène, Leheup, Bruno, Tamalet, Aline, Thumerelle, Caroline, Vojtek, Anne-Marie, Escalier, Denise, Coste, André, de Blic, Jacques, Clément, Annick, Escudier, Estelle, Amselem, Serge

“…CCDC39 and CCDC40 genes have recently been implicated in primary ciliary dyskinesia (PCD) with inner dynein arm (IDA) defects and axonemal disorganisation;…”
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Human acrosome biogenesis: immunodetection of proacrosin in primary spermatocytes and of its partitioning pattern during meiosis by ESCALIER, D, GALLO, J.-M, ALBERT, M, MEDURI, G, BERMUDEZ, D, DAVID, G, SCHREVEL, J

“…Proacrosin biosynthesis timing during human spermatogenesis has been studied using the monoclonal antibody 4D4 (mAb 4D4). Frozen and paraffin-embedded sections…”
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MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia by Coutton, Charles, Zouari, Raoudha, Abada, Farid, Ben Khelifa, Mariem, Merdassi, Ghaya, Triki, Chema, Escalier, Denise, Hesters, Laetitia, Mitchell, Valérie, Levy, Rachel, Sermondade, Nathalie, Boitrelle, Florence, Vialard, François, Satre, Véronique, Hennebicq, Sylviane, Jouk, Pierre-Simon, Arnoult, Christophe, Lunardi, Joël, Ray, Pierre F.

“…STUDY QUESTION Do DPY19L2 heterozygous deletions and point mutations account for some cases of globozoospermia? SUMMARY ANSWER Two DPY19L2 heterozygous…”
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Morphological defects of sperm flagellum implicated in human male infertility by Escalier, Denise, Touré, Aminata

“…The assembly of sperm flagella involves specific components and processes that are still poorly defined. Several morphological defects of the different…”
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Evaluation of sperm nuclear integrity in patients with different percentages of decapitated sperm in ejaculates by Rondanino, Christine, Duchesne, Véronique, Escalier, Denise, Jumeau, Fanny, Verhaeghe, France, Peers, Marie-Claire, Mitchell, Valérie, Rives, Nathalie

“…Abstract The decapitated sperm defect is a rare type of teratozoospermia responsible for male infertility. Spermatozoa from patients affected by this syndrome…”
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Impact of genetic engineering on the understanding of spermatogenesis by Escalier, D

“…To date, about 100 genes have been found, by genetic engineering, to be implicated in spermatogenesis. Primordial germ cells, spermatogonia, spermatocytes I…”
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