日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

非编码RNA基因RNU4-2的双等位基因变异会导致一种隐性遗传的神经发育综合征,并伴有明显的白质改变。

Rius, Rocio; Blakes, Alexander J M; Chen, Yuyang; De Jonghe, Joachim; Lecoquierre, François; Dawes, Ruebena; Cogne, Benjamin; Kim, Hyung Chul; Alvi, Javeria R; Amblard, Florence; Ansari, Morad; Arlt, Annabelle; Austin-Tse, Christina; Baer, Sarah; Balasubramanian, Meena; Balton, Elsa V; Barcia, Giulia; Beleza-Meireles, Ana; Bernstein, Jonathan A; Beygo, Jasmin; Blanc, Pierre; Bramswig, Nuria C; Braun, Frederik; Buchzik, Daniel; Calame, Daniel G; Campbell, Jamie; Coutton, Charles; Cunningham, Chloe A; Dargie, Nitsuh; Depienne, Christel; Dipple, Katrina M; Dieux, Anne; Dixit, Abhijit; Dreyer, Lauren; Du, Haowei; El Chehadeh, Salima; Field, Michael; Ewans, Lisa J; Geiger, Vanessa; Gibbs, Richard A; Glass, Ian; Grunewald, Olivier; Gueguen, Paul; Haack, Tobias B; Hadj Abdallah, Hamza; Harbuz, Radu; Helbig, Ingo; Horvath, Judit; Hustinx, Alexander; Isidor, Bertrand; Jacquemont, Marie-Line; Jamie, Fraser; Jeanne, Médéric; Kessler, Riley; Klinkhammer, Hannah; Korenke, G Christoph; Kotzaeridou, Urania; Krawitz, Peter; Laurie, Steven; Leventer, Richard J; Levy, Rebecca J; Lupski, James R; Marijon, Pierre; McGinnis, Kaitlin E; Mendez, Rodrigo; Messaoud, Olfa; Nava, Caroline; Nizard, Mevyn; O'Donnell-Luria, Anne; O'Leary, Melanie C; Olivieri, Simone; Parida, Amitav; Pehlivan, Davut; Prentice, Anna Jenne; Posey, Jennifer E; Reuter, Chloe M; Satre, Véronique; Schluth-Bolard, Caroline; Smol, Thomas; Sultan, Tipu; Taylor, John; Thauvin-Robinetvin, Christel; Thevenon, Julien; Uebergang, Eloise; Ueberberg, Sandra; Vincent-Delorme, Catherine; Wassmer, Evangeline; Westwood, Emma; Wheeler, Matthew T; Gulec, Elif Yilmaz; Vanderver, Adeline; Vossough, Arastoo; Sanders, Stephan J; Banka, Siddharth; Findlay, Gregory M; MacArthur, Daniel G; Simons, Cas; Whiffin, Nicola

Sperm motility in mice with oligo-astheno-teratozoospermia restored by in vivo injection and electroporation of naked mRNA

通过体内注射和电穿孔导入裸露的mRNA,可恢复少弱畸精子症小鼠的精子活力。

Vilpreux, Charline; Fourquin, Paul; Martinez, Guillaume; Court, Magali; Appaix, Florence; Duteyrat, Jean Luc; Henry, Maxime; Vollaire, Julien; Ayad, Camille; Yavuz, Altan; Chevalier, Geneviève; De Macedo, Lisa; Rebelo, Sofia Andrade; Del Llano, Edgar; Tebbakh, Célia; Kherraf, Zine Eddine; Lambert, Emeline; Ahmed Conté, Sekou; Wehbe, Zeina; Giordani, Elsa; Josserand, Veronique; Brocard, Jacques; Coutton, Charles; Verrier, Bernard; Ray, Pierre F; Loeuillet, Corinne; Arnoult, Christophe; Escoffier, Jessica

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

主要剪接体U4和U5小核RNA基因的显性变异通过破坏剪接过程导致神经发育障碍。

Nava, Caroline; Cogne, Benjamin; Santini, Amandine; Leitão, Elsa; Lecoquierre, François; Chen, Yuyang; Stenton, Sarah L; Besnard, Thomas; Heide, Solveig; Baer, Sarah; Jakhar, Abhilasha; Neuser, Sonja; Keren, Boris; Faudet, Anne; Forlani, Sylvie; Faoucher, Marie; Uguen, Kevin; Platzer, Konrad; Afenjar, Alexandra; Alessandri, Jean-Luc; Andres, Stephanie; Angelini, Chloé; Aral, Bernard; Arveiler, Benoit; Attie-Bitach, Tania; Aubert Mucca, Marion; Banneau, Guillaume; Barakat, Tahsin Stefan; Barcia, Giulia; Baulac, Stéphanie; Beneteau, Claire; Benkerdou, Fouzia; Bernard, Virginie; Bézieau, Stéphane; Bonneau, Dominique; Bonnet-Dupeyron, Marie-Noelle; Boussion, Simon; Boute, Odile; Brischoux-Boucher, Elise; Bryen, Samantha J; Buratti, Julien; Busa, Tiffany; Caliebe, Almuth; Capri, Yline; Cassinari, Kévin; Caumes, Roseline; Cenni, Camille; Chambon, Pascal; Charles, Perrine; Christodoulou, John; Colson, Cindy; Conrad, Solène; Cospain, Auriane; Coursimault, Juliette; Courtin, Thomas; Couse, Madeline; Coutton, Charles; Creveaux, Isabelle; D'Gama, Alissa M; Dauriat, Benjamin; de Sainte Agathe, Jean-Madeleine; Del Gobbo, Giulia; Delahaye-Duriez, Andrée; Delanne, Julian; Denommé-Pichon, Anne-Sophie; Dieux-Coeslier, Anne; Do Souto Ferreira, Laura; Doco-Fenzy, Martine; Drukewitz, Stephan; Duboc, Véronique; Dubourg, Christèle; Duffourd, Yannis; Dyment, David; El Chehadeh, Salima; Elmaleh, Monique; Faivre, Laurence; Fennelly, Samuel; Fischer, Hanna; Fradin, Mélanie; Galludec Vaillant, Camille; Ganne, Benjamin; Ghoumid, Jamal; Goel, Himanshu; Gokce-Samar, Zeynep; Goldenberg, Alice; Gonfreville Robert, Romain; Gorokhova, Svetlana; Goujon, Louise; Granier, Victoria; Gras, Mathilde; Greally, John M; Greiten, Bianca; Gueguen, Paul; Guerrot, Anne-Marie; Guha, Saurav; Guimier, Anne; Haack, Tobias B; Hadj Abdallah, Hamza; Halleb, Yosra; Harbuz, Radu; Harris, Madeleine; Hentschel, Julia; Héron, Bénédicte; Hitz, Marc-Phillip; Innes, A Micheil; Jadas, Vincent; Januel, Louis; Jean-Marçais, Nolwenn; Jobanputra, Vaidehi; Jobic, Florence; Jornea, Ludmila; Jost, Céline; Julia, Sophie; Kaiser, Frank J; Kaschta, Daniel; Kaya, Sabine; Ketteler, Petra; Khadija, Bochra; Kilpert, Fabian; Knopp, Cordula; Kraft, Florian; Krey, Ilona; Lackmy, Marilyn; Laffargue, Fanny; Lambert, Laetitia; Lamont, Ryan; Laugel, Vincent; Laurie, Steven; Lauzon, Julie L; Lebreton, Louis; Lebrun, Marine; Legendre, Marine; Leguern, Eric; Lehalle, Daphné; Lejeune, Elodie; Lesca, Gaetan; Lesieur-Sebellin, Marion; Levy, Jonathan; Linglart, Agnès; Lyonnet, Stanislas; Lüthy, Kevin; Ma, Alan S; Mach, Corinne; Mandel, Jean-Louis; Mansour-Hendili, Lamisse; Marcadier, Julien; Marin, Victor; Margot, Henri; Marquet, Valentine; May, Angèle; Mayr, Johannes A; Meridda, Catherine; Michaud, Vincent; Michot, Caroline; Nadeau, Gwenael; Naudion, Sophie; Nguyen, Laetitia; Nizon, Mathilde; Nowak, Frédérique; Odent, Sylvie; Olin, Valerie; Osei-Owusu, Ikeoluwa A; Osmond, Matthew; Õunap, Katrin; Pasquier, Laurent; Passemard, Sandrine; Pauly, Melissa; Patat, Olivier; Pensec, Marine; Perrin-Sabourin, Laurence; Petit, Florence; Philippe, Christophe; Planes, Marc; Poduri, Annapurna; Poirsier, Céline; Pouzet, Antoine; Prince, Bradley; Prouteau, Clément; Pujol, Aurora; Racine, Caroline; Rama, Mélanie; Ramond, Francis; Ranguin, Kara; Raway, Margaux; Reis, André; Renaud, Mathilde; Revencu, Nicole; Richard, Anne-Claire; Riera-Navarro, Lucile; Rius, Rocio; Rodriguez, Diana; Rodriguez-Palmero, Agustí; Rondeau, Sophie; Roser-Unruh, Annika; Rougeot Jung, Christelle; Safraou, Hana; Satre, Véronique; Saugier-Veber, Pascale; Sauvestre, Clément; Schaefer, Elise; Shao, Wanqing; Schanze, Ina; Schlump, Jan-Ulrich; Schlüter Martin, Agatha; Schluth-Bolard, Caroline; Schuhmann, Sarah; Schröder, Christopher; Sebastin, Monisha; Sigaudy, Sabine; Spielmann, Malte; Spodenkiewicz, Marta; St Clair, Laura; Steffann, Julie; Stoeva, Radka; Surowy, Harald; Tarnopolsky, Mark A; Todosi, Calina; Toutain, Annick; Tran Mau-Them, Frédéric; Unterlauft, Astrid; Van-Gils, Julien; Vanlerberghe, Clémence; Vasileiou, Georgia; Vera, Gabriella; Verdel, André; Verloes, Alain; Vial, Yoann; Vignal, Cédric; Vincent, Marie; Vincent-Delorme, Catherine; Vincent-Devulder, Aline; Vitobello, Antonio; Weber, Sacha; Willems, Marjolaine; Zaafrane-Khachnaoui, Khaoula; Zacher, Pia; Zeltner, Lena; Ziegler, Alban; Galej, Wojciech P; Dollfus, Hélène; Thauvin, Christel; Boycott, Kym M; Marijon, Pierre; Lermine, Alban; Malan, Valérie; Rio, Marlène; Kuechler, Alma; Isidor, Bertrand; Drunat, Séverine; Smol, Thomas; Chatron, Nicolas; Piton, Amélie; Nicolas, Gael; Wagner, Matias; Abou Jamra, Rami; Héron, Delphine; Mignot, Cyril; Blanc, Pierre; O'Donnell-Luria, Anne; Whiffin, Nicola; Charbonnier, Camille; Charenton, Clément; Thevenon, Julien; Depienne, Christel

Deciphering the Contribution of Circular RNAs to Age-Related Decline in Sertoli Cell Survivor.

揭示环状RNA对支持细胞存活率随年龄增长而下降的贡献

Manfrevola Francesco, Mosca Nicola, Mele Vincenza Grazia, Chioccarelli Teresa, Martinez Guillaume, Coutton Charles, Mattia Monica, Pezzullo Mariaceleste, Fasano Silvia, Cobellis Gilda, Potenza Nicoletta, Chianese Rosanna

Phenotypic continuum and poor intracytoplasmic sperm injection intracytoplasmic sperm injection prognosis in patients harboring HENMT1 variants.

表型连续性及携带 HENMT1 变异患者的胞浆内单精子注射预后不良

Wehbe Zeina, Barbotin Anne-Laure, Boursier Angèle, Cazin Caroline, Hograindleur Jean-Pascal, Bidart Marie, Fontaine Emeline, Plouvier Pauline, Puch Florence, Satre Véronique, Arnoult Christophe, Mustapha Selima Fourati Ben, Zouari Raoudha, Thierry-Mieg Nicolas, Ray Pierre F, Kherraf Zine-Eddine, Coutton Charles, Martinez Guillaume

Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders

RNU4-2 的饱和基因组编辑揭示了不同的显性和隐性神经发育障碍

De Jonghe, Joachim; Kim, Hyung Chul; Adedeji, Ayanfeoluwa; Leitão, Elsa; Dawes, Ruebena; Chen, Yuyang; Blakes, Alexander Jm; Simons, Cas; Rius, Rocio; Alvi, Javeria R; Amblard, Florence; Austin-Tse, Christina; Baer, Sarah; Balton, Elsa V; Blanc, Pierre; Calame, Daniel G; Coutton, Charles; Cunningham, Chloe A; Dargie, Nitsuh; Dipple, Katrina M; Du, Haowei; El Chehadeh, Salima; Glass, Ian; Gleeson, Joseph G; Grunewald, Olivier; Gueguen, Paul; Harbuz, Radu; Jacquemont, Marie-Line; Leventer, Richard J; Marijon, Pierre; Messaoud, Olfa; Sultan, Tipu; Thauvin, Christel; Vincent-Delorme, Catherine; Gulec, Elif Yilmaz; Thevenon, Julien; Mendez, Rodrigo; MacArthur, Daniel G; Depienne, Christel; Nava, Caroline; Whiffin, Nicola; Findlay, Gregory M

BRCA1 Intragenic Duplication Combined with a Likely Pathogenic TP53 Variant in a Patient with Triple-Negative Breast Cancer: Clinical Risk and Management

BRCA1基因内重复合并可能致病的TP53变异,在三阴性乳腺癌患者中:临床风险与管理

Ea, Vuthy; Berthozat, Claudine; Dreyfus, Hélène; Legrand, Clémentine; Rousselet, Estelle; Peysselon, Magalie; Baudet, Laura; Martinez, Guillaume; Coutton, Charles; Bidart, Marie

Familial KCNQ2 mutation: a psychiatric perspective

家族性KCNQ2基因突变:精神病学视角

Iftimovici, Anton; Charmet, Angeline; Desnous, Béatrice; Ory, Ana; Delorme, Richard; Coutton, Charles; Devillard, Françoise; Milh, Mathieu; Maruani, Anna

Sperm Meiotic Segregation Analysis of Reciprocal Translocations Carriers: We Have Bigger FISH to Fry

相互易位携带者的精子减数分裂分离分析:我们还有更重要的事要做

Del Llano, Edgar; Perrin, Aurore; Morel, Frédéric; Devillard, Françoise; Harbuz, Radu; Satre, Véronique; Amblard, Florence; Bidart, Marie; Hennebicq, Sylviane; Brouillet, Sophie; Ray, Pierre F; Coutton, Charles; Martinez, Guillaume

Bypassing Mendel's First Law: Transmission Ratio Distortion in Mammals

绕过孟德尔第一定律:哺乳动物的遗传传递比畸变

Friocourt, Gaëlle; Perrin, Aurore; Saunders, Paul A; Nikalayevich, Elvira; Voisset, Cécile; Coutton, Charles; Martinez, Guillaume; Morel, Frédéric