Not logged inMMS22L is a novel key actor of normal and pathological erythropoiesis
Colin, Elia; Ferrer-vicens, Ivan; Brook, Dror; Salma, Mohammad; Andrieu-soler, Charlotte; Bayard, Elisa; Fernandes, Alicia; Brouzes, Chantal; Lefevre, Carine; Duval, Romain; Dussiot, Michael; Trovati, Thiago; Courtois, Genevieve; Azouzi, Slim; Zarhrate, Mohammed; Lambilliotte, Anne; Park, Sophie; Carpentier, Benjamin; Colard, Martin; Manceau, Sandra; Moshous, Despina; Mayeux, Patrick; Gautier, Emilie-fleur; Miccio, Annarita; Soulier, Jean; Vainchenker, William; Shlush, Liran; Da Costa, Lydie; Frayne, Jan; Soler, Eric; Hermine, Olivier; Couronne, Lucile .png)
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SaveCongenital microcoria deletion in mouse links Sox21 dysregulation to disease and suggests a role for TGFB2 in glaucoma and myopiaErjavec, Elisa; Angee, Clementine; Hadjadj, Djihad; Passet, Bruno; David, Pierre; Kostic, Corinne; Dode, Emmanuel; Zanlonghi, Xavier; Cagnard, Nicolas; Nedelec, Brigitte; Crippa, Sylvain V.; Bole-Feysot, Christine; Zarhrate, Mohammed; Creuzet, Sophie; Castille, Johan; Vilotte, Jean-Luc; Calvas, Patrick; Plaisancie, Julie; Chassaing, Nicolas; Kaplan, Josseline; Rozet, Jean-Michel; Taie, Lucas Fares Share Save Somatic RAP1B gain-of-function variant underlies isolated thrombocytopenia and immunodeficiencyBenavides-Nieto, Marta; Adam, Frederic; Martin, Emmanuel; Boussard, Charlotte; Lagresle-Peyrou, Chantal; Callebaut, Isabelle; Kauskot, Alexandre; Reperant, Christelle; Feng, Miao; Bordet, Jean-Claude; Castelle, Martin; Morelle, Guillaume; Brouzes, Chantal; Zarhrate, Mohammed; Panikulam, Patricia; Lambert, Nathalie; Picard, Capucine; Bodet, Damien; Rouger-Gaudichon, Jeremie; Revy, Patrick; de Villartay, Jean-Pierre; Moshous, Despina Share Save MEK-SHP2 inhibition prevents tibial pseudarthrosis caused by NF1 loss in Schwann cells and skeletal stem/progenitor cellsPerrin, Simon; Protic, Sanela; Bretegnier, Vincent; Laurendeau, Ingrid; de Lageneste, Oriane Duchamp; Panara, Nicolas; Ruckebusch, Odile; Luka, Marine; Masson, Cecile; Maillard, Theodora; Coulpier, Fanny; Pannier, Stephanie; Wicart, Philippe; Hadj-Rabia, Smail; Radomska, Katarzyna J.; Zarhrate, Mohammed; Menager, Mickael; Vidaud, Dominique; Topilko, Piotr; Parfait, Beatrice; Colnot, Celine Share Save PIK3CA inhibition in models of proliferative glomerulonephritis and lupus nephritisYamaguchi, Junna; Isnard, Pierre; Robil, Noemie; de la Grange, Pierre; Hoguin, Clement; Schmitt, Alain; Hummel, Aurelie; Megret, Jerome; Goudin, Nicolas; Luka, Marine; Menager, Mickael M.; Masson, Cecile; Zarhrate, Mohammed; Bole-Feysot, Christine; Janiszewska, Michalina; Polyak, Kornelia; Dairou, Julien; Baldassari, Sara; Baulac, Stephanie; Broissand, Christine; Legendre, Christophe; Terzi, Fabiola; Canaud, Guillaume Share Save Single-cell RNA-sequencing of PBMCs from SAVI patients reveals disease-associated monocytes with elevated integrated stress responsede Cevins, Camille; Delage, Laure; Batignes, Maxime; Riller, Quentin; Luka, Marine; Remaury, Anne; Sorin, Boris; Fali, Tinhinane; Masson, Cecile; Hoareau, Benedicte; Meunier, Catherine; Parisot, Melanie; Zarhrate, Mohammed; Perot, Brieuc P.; Garcia-Paredes, Victor; Carbone, Francesco; Galliot, Lou; Nal, Beatrice; Pierre, Philippe; Canard, Luc; Boussard, Charlotte; Crickx, Etienne; Guillemot, Jean-Claude; Bader-Meunier, Brigitte; Belot, Alexandre; Quartier, Pierre; Fremond, Marie-Louise; Neven, Benedicte; Boldina, Galina; Auge, Franck; Alain, Fischer; Didier, Michel; Rieux-Laucat, Frederic; Menager, Mickaoel M. Share Save A shared pattern of altered gene expression in human embryos affected by mitochondrial diseasesChatzovoulou, Kalliopi; Mayeur, Anne; Cagnard, Nicolas; Zarhrate, Mohammed; Bole, Christine; Nitschke, Patrick; Jabot-Hanin, Fabienne; Rotig, Agnes; Monnot, Sophie; Munnich, Arnold; Frydman, Nelly; Steffann, Julie Share Save A specific molecular signature in SARS-CoV-2-infected kidney biopsiesIsnard, Pierre; Vergnaud, Paul; Garbay, Serge; Jamme, Matthieu; Eloudzeri, Maeva; Karras, Alexandre; Anglicheau, Dany; Galantine, Valerie; Eddine, Arwa Jalal; Gosset, Clement; Pourcine, Franck; Zarhrate, Mohammed; Gibier, Jean-Baptiste; Rensen, Elena; Pietropaoli, Stefano; Barba-Spaeth, Giovanna; Duong-Van-Huyen, Jean-Paul; Molina, Thierry J.; Mueller, Florian; Zimmer, Christophe; Pontoglio, Marco; Terzi, Fabiola; Rabant, Marion Share Save Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 IndividualsAubert-Mucca, Marion; Huber, Celine; Baujat, Genevieve; Michot, Caroline; Zarhrate, Mohammed; Bras, Marc; Boutaud, Lucile; Malan, Valerie; Attie-Bitach, Tania; Cormier-Daire, Valerie Share Save Somatic genetic rescue of a germline ribosome assembly defect (vol 12, 5044, 2021)Tan, Shengjiang; Kermasson, Laetitia; Hilcenko, Christine; Kargas, Vasileios; Traynor, David; Boukerrou, Ahmed Z.; Escudero-Urquijo, Norberto; Faille, Alexandre; Bertrand, Alexis; Rossmann, Maxim; Goyenechea, Beatriz; Jin, Li; Moreil, Jonathan; Alibeu, Olivier; Beaupain, Blandine; Bole-Feysot, Christine; Fumagalli, Stefano; Kaltenbach, Sophie; Martignoles, Jean-Alain; Masson, Cecile; Nitschke, Patrick; Parisot, Melanie; Pouliet, Aurore; Radford-Weiss, Isabelle; Tores, Frederic; de Villartay, Jean-Pierre; Zarhrate, Mohammed; Koh, Ai Ling; Phua, Kong Boo; Reversade, Bruno; Bond, Peter J.; Bellanne-Chantelot, Christine; Callebaut, Isabelle; Delhommeau, Francois; Donadieu, Jean; Warren, Alan J.; Revy, Patrick Share Save A monocyte/dendritic cell molecular signature of SARS-CoV-2-related multisystem inflammatory syndrome in children with severe myocarditisde Cevins, Camille; Luka, Marine; Smith, Nikaia; Meynier, Sonia; Magerus, Aude; Carbone, Francesco; Garcia-Paredes, Victor; Barnabei, Laura; Batignes, Maxime; Boulle, Alexandre; Stolzenberg, Marie-Claude; Perot, Brieuc P.; Charbit, Bruno; Fali, Tinhinane; Pirabakaran, Vithura; Sorin, Boris; Riller, Quentin; Abdessalem, Ghaith; Beretta, Maxime; Grzelak, Ludivine; Goncalves, Pedro; Di Santo, James P.; Mouquet, Hugo; Schwartz, Olivier; Zarhrate, Mohammed; Parisot, Melanie; Bole-Feysot, Christine; Masson, Cecile; Cagnard, Nicolas; Corneau, Aurelien; Brunaud, Camille; Zhang, Shen-Ying; Casanova, Jean-Laurent; Bader-Meunier, Brigitte; Haroche, Julien; Melki, Isabelle; Lorrot, Mathie; Oualha, Mehdi; Moulin, Florence; Bonnet, Damien; Belhadjer, Zahra; Leruez, Marianne; Allali, Slimane; Gras-Leguen, Christele; de Pontual, Loic; Fischer, Alain; Duffy, Darragh; Rieux-Laucat, Frederic; Toubiana, Julie; Menager, Mickael M. Share Save Somatic genetic rescue of a germline ribosome assembly defectTan, Shengjiang; Kermasson, Laetitia; Hilcenko, Christine; Kargas, Vasileios; Traynor, David; Boukerrou, Ahmed Z.; Escudero-Urquijo, Norberto; Faille, Alexandre; Bertrand, Alexis; Rossmann, Maxim; Goyenechea, Beatriz; Jin, Li; Moreil, Jonathan; Alibeu, Olivier; Beaupain, Blandine; Bole-Feysot, Christine; Fumagalli, Stefano; Kaltenbach, Sophie; Martignoles, Jean-Alain; Masson, Cecile; Nitschke, Patrick; Parisot, Melanie; Pouliet, Aurore; Radford-Weiss, Isabelle; Tores, Frederic; de Villartay, Jean-Pierre; Zarhrate, Mohammed; Koh, Ai Ling; Phua, Kong Boo; Reversade, Bruno; Bond, Peter J.; Bellanne-Chantelot, Christine; Callebaut, Isabelle; Delhommeau, Francois; Donadieu, Jean; Warren, Alan J.; Revy, Patrick Share Save Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulationZiegler, Alban; Duclaux-Loras, Remi; Revenu, Celine; Charbit-Henrion, Fabienne; Begue, Bernadette; Duroure, Karine; Grimaud, Linda; Guihot, Anne Laure; Desquiret-Dumas, Valerie; Zarhrate, Mohammed; Cagnard, Nicolas; Mas, Emmanuel; Breton, Anne; Edouard, Thomas; Billon, Clarisse; Frank, Michael; Colin, Estelle; Lenaers, Guy; Henrion, Daniel; Lyonnet, Stanislas; Faivre, Laurence; Alembik, Yves; Philippe, Anais; Moulin, Bruno; Reinstein, Eyal; Tzur, Shay; Attali, Ruben; McGillivray, George; White, Susan M.; Gallacher, Lyndon; Kutsche, Kerstin; Schneeberger, Pauline; Girisha, Katta M.; Nayak, Shalini S.; Pais, Lynn; Maroofian, Reza; Rad, Aboulfazl; Vona, Barbara; Karimiani, Ehsan Ghayoor; Lekszas, Caroline; Haaf, Thomas; Martin, Ludovic; Ruemmele, Frank; Bonneau, Dominique; Cerf-Bensussan, Nadine; Del Bene, Filippo; Parlato, Marianna Share Save Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog SignalingLe, Thuy-Linh; Sribudiani, Yunia; Dong, Xiaomin; Huber, Celine; Kois, Chelsea; Baujat, Genevieve; Gordon, Christopher T.; Mayne, Valerie; Galmiche, Louise; Serre, Valerie; Goudin, Nicolas; Zarhrate, Mohammed; Bole-Feysot, Christine; Masson, Cecile; Nitschke, Patrick; Verheijen, Frans W.; Pais, Lynn; Pelet, Anna; Sadedin, Simon; Pugh, John A.; Shur, Natasha; White, Susan M.; El Chehadeh, Salima; Christodoulou, John; Cormier-Daire, Valerie; Hofstra, R. M. W.; Lyonnet, Stanislas; Tan, Tiong Yang; Attie-Bitach, Tania; Kerstjens-Frederikse, Wilhelmina S.; Amiel, Jeanne; Thomas, Sophie Share Save Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2Duncan, Christopher J. A.; Thompson, Benjamin J.; Chen, Rui; Rice, Gillian, I; Gothe, Florian; Young, Dan F.; Lovell, Simon C.; Shuttleworth, Victoria G.; Brocklebank, Vicky; Corner, Bronte; Skelton, Andrew J.; Bondet, Vincent; Coxhead, Jonathan; Duffy, Darragh; Fourrage, Cecile; Livingston, John H.; Pavaine, Julija; Cheesman, Edmund; Bitetti, Stephania; Grainger, Angela; Acres, Meghan; Innes, Barbara A.; Mikulasova, Aneta; Sun, Ruyue; Hussain, Rafiqul; Wright, Ronnie; Wynn, Robert; Zarhrate, Mohammed; Zeef, Leo A. H.; Wood, Katrina; Hughes, Stephen M.; Harris, Claire L.; Engelhardt, Karin R.; Crow, Yanick J.; Randall, Richard E.; Kavanagh, David; Hambleton, Sophie; Briggs, Tracy A. Share Save PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcomePelet, Anna; Skopova, Vaclava; Steuerwald, Ulrike; Baresov, Veronika; Zarhrate, Mohammed; Plaza, Jean-Marc; Hnizda, Ales; Krijt, Matyas; Souckova, Olga; Wibrand, Flemming; Andorsdottir, Guorio; Joensen, Frooi; Sedlak, David; Bleyer, Anthony; Kmoch, Stanislav; Lyonnet, Stanislas; Zikanov, Marie Share Save Tetratricopeptide repeat domain 7A is a nuclear factor that modulates transcription and chromatin structureEl-Daher, Marie-Therese; Cagnard, Nicolas; Gil, Marine; Da Cruz, Marie Chansel; Leveau, Claire; Sepulveda, Fernando; Zarhrate, Mohammed; Tores, Frederic; Legoix, Patricia; Baulande, Sylvain; de Villartay, Jean Pierre; Almouzni, Genevieve; Quivy, Jean-Pierre; Fischer, Alain; de Saint Basile, Genevieve Share Save Human ALPI deficiency causes inflammatory bowel disease and highlights a key mechanism of gut homeostasisParlato, Marianna; Charbit-Henrion, Fabienne; Pan, Jie; Romano, Claudio; Duclaux-Loras, Remi; Le Du, Marie-Helene; Warner, Neil; Francalanci, Paola; Bruneau, Julie; Bras, Marc; Zarhrate, Mohammed; Begue, Bernadette; Guegan, Nicolas; Rakotobe, Sabine; Kapel, Nathalie; De Angelis, Paola; Griffiths, Anne M.; Fiedler, Karoline; Crowley, Eileen; Ruemmele, Frank; Muise, Aleixo M.; Cerf-Bensussan, Nadine Share Save Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilizationBizet, Albane A.; Becker-Heck, Anita; Ryan, Rebecca; Weber, Kristina; Filhol, Emilie; Krug, Pauline; Halbritter, Jan; Delous, Marion; Lasbennes, Marie-Christine; Linghu, Bolan; Oakeley, Edward J.; Zarhrate, Mohammed; Nitschke, Patrick; Garfa-Traore, Meriem; Serluca, Fabrizio; Yang, Fan; Bouwmeester, Tewis; Pinson, Lucile; Cassuto, Elisabeth; Dubot, Philippe; Elshakhs, Neveen A. Soliman; Sahel, Jose A.; Salomon, Remi; Drummond, Iain A.; Gubler, Marie-Claire; Antignac, Corinne; Chibout, Salandine; Szustakowski, Joseph D.; Hildebrandt, Friedhelm; Lorentzen, Esben; Sailer, Andreas W.; Benmerah, Alexandre; Saint-Mezard, Pierre; Saunier, Sophie Share Save Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans (vol 94, pg 288, 2014)Humbert, Camille; Silbermann, Flora; Morar, Bharti; Parisot, Melanie; Zarhrate, Mohammed; Masson, Cecile; Tores, Frederic; Blanchet, Patricia; Perez, Marie-Jose; Petrov, Yuliya; Van Kien, Philippe Khau; Roume, Joelle; Leroy, Brigitte; Gribouval, Olivier; Kalaydjieva, Luba; Heidet, Laurence; Salomon, Remi; Antignac, Corinne; Benmerah, Alexandre; Saunier, Sophie; Jeanpierre, Cecile Share Save 
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