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The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.
Published in:
Nature Genetics, 2007, v. 39, n. 7, p. 875, doi. 10.1038/ng2039
By:
- Delous, Marion;
- Baala, Lekbir;
- Salomon, Rémi;
- Laclef, Christine;
- Vierkotten, Jeanette;
- Tory, Kàlmàn;
- Golzio, Christelle;
- Lacoste, Tiphanie;
- Besse, Laurianne;
- Ozilou, Catherine;
- Moutkine, Imane;
- Hellman, Nathan E.;
- Anselme, Isabelle;
- Silbermann, Flora;
- Vesque, Christine;
- Gerhardt, Christoph;
- Rattenberry, Eleanor;
- Wolf, Matthias T. F.;
- Gubler, Marie Claire;
- Martinovic, Jéléna
Publication type:
Article
Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization.
Published in:
Scientific Reports, 2015, p. 8666, doi. 10.1038/ncomms9666
By:
- Bizet, 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;
- Nitschké, Patrick;
- Garfa-Traore, Meriem;
- Serluca, Fabrizio;
- Yang, Fan;
- Bouwmeester, Tewis;
- Pinson, Lucile;
- Cassuto, Elisabeth;
- Dubot, Philippe
Publication type:
Article
Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene.
Published in:
PLoS ONE, 2020, v. 15, n. 7, p. 1, doi. 10.1371/journal.pone.0235655
By:
- Benoit-Pilven, Clara;
- Besson, Alicia;
- Putoux, Audrey;
- Benetollo, Claire;
- Saccaro, Clément;
- Guguin, Justine;
- Sala, Gabriel;
- Cologne, Audric;
- Delous, Marion;
- Lesca, Gaetan;
- Padgett, Richard A.;
- Leutenegger, Anne-Louise;
- Lacroix, Vincent;
- Edery, Patrick;
- Mazoyer, Sylvie
Publication type:
Article
Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization.
Published in:
Nature Communications, 2015, v. 6, n. 10, p. 8666, doi. 10.1038/ncomms9666
By:
- Bizet, 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;
- Nitschké, Patrick;
- Garfa-Traore, Meriem;
- Serluca, Fabrizio;
- Yang, Fan;
- Bouwmeester, Tewis;
- Pinson, Lucile;
- Cassuto, Elisabeth;
- Dubot, Philippe
Publication type:
Article
B‐cell immune deficiency in twin sisters expands the phenotype of MOPDI.
Published in:
Clinical Genetics, 2024, v. 106, n. 4, p. 476, doi. 10.1111/cge.14571
By:
- Gauthier, Lucas W.;
- Gossez, Morgane;
- Malcus, Christophe;
- Viel, Sébastien;
- Monneret, Guillaume;
- Bordonné, Remy;
- Pons, Linda;
- Cabet, Sara;
- Delous, Marion;
- Mazoyer, Sylvie;
- Putoux, Audrey;
- Edery, Patrick
Publication type:
Article
Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish.
Published in:
Human Molecular Genetics, 2019, v. 28, n. 5, p. 778, doi. 10.1093/hmg/ddy381
By:
- Reilly, Madeline Louise;
- Stokman, Marijn F;
- Magry, Virginie;
- Jeanpierre, Cecile;
- Alves, Marine;
- Paydar, Mohammadjavad;
- Hellinga, Jacqueline;
- Delous, Marion;
- Pouly, Daniel;
- Failler, Marion;
- Martinovic, Jelena;
- Loeuillet, Laurence;
- Leroy, Brigitte;
- Tantau, Julia;
- Roume, Joelle;
- Gregory-Evans, Cheryl Y;
- Shan, Xianghong;
- Filges, Isabel;
- Allingham, John S;
- Kwok, Benjamin H
Publication type:
Article
Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies.
Published in:
Human Molecular Genetics, 2018, v. 27, n. 2, p. 266, doi. 10.1093/hmg/ddx396
By:
- Ryan, Rebecca;
- Failler, Marion;
- Reilly, Madeline Louise;
- Garfa-Traore, Meriem;
- Delous, Marion;
- Filhol, Emilie;
- Reboul, Thérèse;
- Bole-Feysot, Christine;
- Nitschké, Patrick;
- Baudouin, Véronique;
- Amselem, Serge;
- Escudier, Estelle;
- Legendre, Marie;
- Benmerah, Alexandre;
- Saunier, Sophie
Publication type:
Article
Mutations in the non-coding RNU4ATAC gene affect the homeostasis and function of the Integrator complex.
Published in:
Nucleic Acids Research, 2023, v. 51, n. 2, p. 712, doi. 10.1093/nar/gkac1182
By:
- Almentina Ramos Shidi, Fatimat;
- Cologne, Audric;
- Delous, Marion;
- Besson, Alicia;
- Putoux, Audrey;
- Leutenegger, Anne-Louise;
- Lacroix, Vincent;
- Edery, Patrick;
- Mazoyer, Sylvie;
- Bordonné, Rémy
Publication type:
Article
Hepatocyte Growth Factor Signaling in Intrapancreatic Ductal Cells Drives Pancreatic Morphogenesis.
Published in:
PLoS Genetics, 2013, v. 9, n. 7, p. 1, doi. 10.1371/journal.pgen.1003650
By:
- Anderson, Ryan M.;
- Delous, Marion;
- Bosch, Justin A.;
- Ye, Lihua;
- Robertson, Morgan A.;
- Hesselson, Daniel;
- Stainier, Didier Y. R.
Publication type:
Article
sox9b Is a Key Regulator of Pancreaticobiliary Ductal System Development.
Published in:
PLoS Genetics, 2012, v. 8, n. 6, p. 1, doi. 10.1371/journal.pgen.1002754
By:
- Delous, Marion;
- Yin, Chunyue;
- Shin, Donghun;
- Ninov, Nikolay;
- Carten, Juliana Debrito;
- Pan, Luyuan;
- Ma, Taylur P.;
- Farber, Steven A.;
- Moens, Cecilia B.;
- Stainier, Didier Y. R.
Publication type:
Article
Nephrocystin-1 and nephrocystin-4 are required for epithelial morphogenesis and associate with PALS1/PATJ and Par6.
Published in:
Human Molecular Genetics, 2009, v. 18, n. 24, p. 4711, doi. 10.1093/hmg/ddp434
By:
- Delous, Marion;
- Hellman, Nathan E.;
- Gaudé, Helori-Maël;
- Silbermann, Flora;
- Le Bivic, André;
- Salomon, Rémi;
- Antignac, Corinne;
- Saunier, Sophie
Publication type:
Article
Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes.
Published in:
Human Molecular Genetics, 2005, v. 14, n. 5, p. 645, doi. 10.1093/hmg/ddi061
By:
- Mollet, Géraldine;
- Silbermann, Flora;
- Delous, Marion;
- Salomon, Rémi;
- Antignac, Corinne;
- Saunier, Sophie
Publication type:
Article
Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation.
Published in:
PLoS Genetics, 2016, v. 12, n. 3, p. 1, doi. 10.1371/journal.pgen.1005894
By:
- Grampa, Valentina;
- Delous, Marion;
- Zaidan, Mohamad;
- Odye, Gweltas;
- Thomas, Sophie;
- Elkhartoufi, Nadia;
- Filhol, Emilie;
- Niel, Olivier;
- Silbermann, Flora;
- Lebreton, Corinne;
- Collardeau-Frachon, Sophie;
- Rouvet, Isabelle;
- Alessandri, Jean-Luc;
- Devisme, Louise;
- Dieux-Coeslier, Anne;
- Cordier, Marie-Pierre;
- Capri, Yline;
- Khung-Savatovsky, Suonavy;
- Sigaudy, Sabine;
- Salomon, Rémi
Publication type:
Article

Found: 13