未登录 Adipocyte-specific deletion of Dbc1 does not recapitulate healthy obesity phenotype but suggests regulation of inflammation signaling 脂肪细胞特异性敲除Dbc1并不能重现健康肥胖表型，但提示了炎症信号通路的调节。 Santos, Leonardo; Fort, Rafael Sebastian; Schlapp, Geraldine; Cal, Karina; Perez-Torrado, Valentina; Meikle, Maria Noel; Mulet, Ana Paula; Espasandin, Camila; Chiesa, Camila; Sotelo-Silveira, Jose R.; Verdes, Jose M.; Contreras, Paola; Calliari, Aldo J.; Crispo, Martina; Badano, Jose L.; Escande, Carlos 分享 收藏
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Impact of Bariatric Surgery on metabolic health in a Uruguayan cohort and the emerging predictive role of FSTL1 Santos, Leonardo; Patrone, Mariana; Prieto-Echague, Victoria; Lapi, Silvana; Perdomo, Mauro; Vaucher, Andrea; Rodriguez, Gustavo; Valsangiacomo, Pablo; Naya, Hugo; Escande, Carlos; Badano, Jose L.; Spangenberg, Lucia; Bruno, Gustavo 分享 收藏
Generation and characterization of Ccdc28b mutant mice links the Bardet-Biedl associated gene with mild social behavioral phenotypes Fabregat, Matias; Nino-Rivero, Sofia; Pose, Sabrina; Cardenas-Rodriguez, Magdalena; Bresque, Mariana; Hernandez, Karina; Prieto-Echaguee, Victoria; Schlapp, Geraldine; Crispo, Martina; Lagos, Patricia; Lago, Natalia; Escande, Carlos; Irigoin, Florencia; Badano, Jose L. 分享 收藏
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A novel form of Deleted in breast cancer 1 (DBC1) lacking the N-terminal domain does not bind SIRT1 and is dynamically regulated in vivo Santos, Leonardo; Colman, Laura; Contreras, Paola; Chini, Claudia C.; Carlomagno, Adriana; Leyva, Alejandro; Bresque, Mariana; Marmisolle, Ines; Quijano, Celia; Duran, Rosario; Irigoin, Florencia; Prieto-Echague, Victoria; Vendelbo, Mikkel H.; Sotelo-Silveira, Jose R.; Chini, Eduardo N.; Badano, Jose L.; Calliari, Aldo J.; Escande, Carlos 分享 收藏
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Pervasive genetic interactions modulate neurodevelopmental defects of the autism-associated 16p11.2 deletion in Drosophila melanogaster Iyer, Janani; Singh, Mayanglambam Dhruba; Jensen, Matthew; Patel, Payal; Pizzo, Lucilla; Huber, Emily; Koerselman, Haley; Weiner, Alexis T.; Lepanto, Paola; Vadodaria, Komal; Kubina, Alexis; Wang, Qingyu; Talbert, Abigail; Yennawar, Sneha; Badano, Jose; Manak, J. Robert; Rolls, Melissa M.; Krishnan, Arjun; Girirajan, Santhosh 分享 收藏
Kinesin 1 regulates cilia length through an interaction with the Bardet-Biedl syndrome related protein CCDC28B Novas, Rossina; Cardenas-Rodriguez, Magdalena; Lepanto, Paola; Fabregat, Matias; Rodao, Magela; Ines Fariello, Maria; Ramos, Mauricio; Davison, Camila; Casanova, Gabriela; Alfaya, Lucia; Lecumberry, Federico; Gonzalez-Sapienza, Gualberto; Irigoin, Florencia; Badano, Jose L. 分享 收藏
BBS4 regulates the expression and secretion of FSTL1, a protein that participates in ciliogenesis and the differentiation of 3T3-L1 Prieto-Echague, Victoria; Lodh, Sukanya; Colman, Laura; Bobba, Natalia; Santos, Leonardo; Katsanis, Nicholas; Escande, Carlos; Zaghloul, Norann A.; Badano, Jose L. 分享 收藏
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Direct role of Bardet-Biedl syndrome proteins in transcriptional regulation Gascue, Cecilia; Tan, Perciliz L.; Cardenas-Rodriguez, Magdalena; Libisch, Gabriela; Fernandez-Calero, Tamara; Liu, Yangfan P.; Astrada, Soledad; Robello, Carlos; Naya, Hugo; Katsanis, Nicholas; Badano, Jose L. 分享 收藏
Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome Zaghloul, Norann A.; Liu, Yangjian; Gerdes, Jantje M.; Gascue, Cecilia; Oh, Edwin C.; Leitch, Carmen C.; Bromberg, Yana; Binkley, Jonathan; Leibel, Rudolph L.; Sidow, Arend; Badano, Jose L.; Katsanis, Nicholas 分享 收藏
Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease de Pontual, Loic; Zaghloul, Norann A.; Thomas, Sophie; Davis, Erica E.; Mcgaughey, David M.; Dollfus, Helene; Baumann, Clarisse; Bessling, Seneca L.; Babarit, Candice; Pelet, Anna; Gascue, Cecilia; Beales, Philip; Munnich, Arnold; Lyonnet, Stanislas; Etchevers, Heather; Attie-Bitach, Tania; Badano, Jose L.; McCallion, Andrew S.; Katsanis, Nicholas; Amiel, Jeanne 分享 收藏
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome (vol 40, pg 443, 2008) Leitch, Carmen C.; Zaghloul, Norann A.; Davis, Erica E.; Stoetzel, Corinne; Diaz-Font, Anna; Rix, Suzanne; Alfadhel, Majid; Lewis, Richard Alan; Eyaid, Wafaa; Banin, Eyal; Dollfus, Helene; Beales, Philip L.; Badano, Jose L.; Katsanis, Nicholas 分享 收藏
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome Leitch, Carmen C.; Zaghloul, Norann A.; Davis, Erica E.; Stoetzel, Corinne; Diaz-Font, Anna; Rix, Suzanne; Al-Fadhel, Majid; Lewis, Richard Alan; Eyaid, Wafaa; Banin, Eyal; Dollfus, Helene; Beales, Philip L.; Badano, Jose L.; Katsanis, Nicholas 分享 收藏
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