Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy
Zaghloul, Norann A, Katsanis, Nicholas
Published in The Journal of clinical investigation (01.03.2009)
Published in The Journal of clinical investigation (01.03.2009)
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Journal Article
Nde1-mediated inhibition of ciliogenesis affects cell cycle re-entry
Tsiokas, Leonidas, Oh, Edwin C, Kim, Sehyun, Obara, Tomoko, Zaghloul, Norann A, Katsanis, Nicholas, Rankin, Susannah, Bubenshchikova, Ekaterina
Published in Nature cell biology (01.04.2011)
Published in Nature cell biology (01.04.2011)
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Journal Article
ZRANB3 is an African-specific type 2 diabetes locus associated with beta-cell mass and insulin response
Adeyemo, Adebowale A., Zaghloul, Norann A., Chen, Guanjie, Doumatey, Ayo P., Leitch, Carmen C., Hostelley, Timothy L., Nesmith, Jessica E., Zhou, Jie, Bentley, Amy R., Shriner, Daniel, Fasanmade, Olufemi, Okafor, Godfrey, Eghan, Benjamin, Agyenim-Boateng, Kofi, Chandrasekharappa, Settara, Adeleye, Jokotade, Balogun, William, Owusu, Samuel, Amoah, Albert, Acheampong, Joseph, Johnson, Thomas, Oli, Johnnie, Adebamowo, Clement, Collins, Francis, Dunston, Georgia, Rotimi, Charles N.
Published in Nature communications (19.07.2019)
Published in Nature communications (19.07.2019)
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Journal Article
Basal body proteins regulate Notch signaling through endosomal trafficking
Leitch, Carmen C, Lodh, Sukanya, Prieto-Echagüe, Victoria, Badano, Jose L, Zaghloul, Norann A
Published in Journal of cell science (01.06.2014)
Published in Journal of cell science (01.06.2014)
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Journal Article
RFX transcription factors are essential for hearing in mice
Elkon, Ran, Milon, Beatrice, Morrison, Laura, Shah, Manan, Vijayakumar, Sarath, Racherla, Manoj, Leitch, Carmen C., Silipino, Lorna, Hadi, Shadan, Weiss-Gayet, Michèle, Barras, Emmanuèle, Schmid, Christoph D., Ait-Lounis, Aouatef, Barnes, Ashley, Song, Yang, Eisenman, David J., Eliyahu, Efrat, Frolenkov, Gregory I., Strome, Scott E., Durand, Bénédicte, Zaghloul, Norann A., Jones, Sherri M., Reith, Walter, Hertzano, Ronna
Published in Nature communications (15.10.2015)
Published in Nature communications (15.10.2015)
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Journal Article
The emerging face of primary cilia
Zaghloul, Norann A., Brugmann, Samantha A.
Published in Genesis (New York, N.Y. : 2000) (01.04.2011)
Published in Genesis (New York, N.Y. : 2000) (01.04.2011)
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Journal Article
Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators
Liu, Yangfan P, Tsai, I-Chun, Morleo, Manuela, Oh, Edwin C, Leitch, Carmen C, Massa, Filomena, Lee, Byung-Hoon, Parker, David S, Finley, Daniel, Zaghloul, Norann A, Franco, Brunella, Katsanis, Nicholas
Published in The Journal of clinical investigation (01.05.2014)
Published in The Journal of clinical investigation (01.05.2014)
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Journal Article
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
Banin, Eyal, Badano, Jose L, Zaghloul, Norann A, Eyaid, Wafaa, Stoetzel, Corinne, Rix, Suzanne, Diaz-Font, Anna, Beales, Philip L, Katsanis, Nicholas, Alfadhel, Majid, Dollfus, Helene, Leitch, Carmen C, Davis, Erica E, Lewis, Richard Alan
Published in Nature genetics (01.04.2008)
Published in Nature genetics (01.04.2008)
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Journal Article
Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response
Liu, Yangfan, Gerdes, Jantje M, Zaghloul, Norann A, Fisher, Shannon, Badano, Jose L, Katsanis, Nicholas, Beales, Philip L, Leitch, Carmen C, Beachy, Philip A, Kato, Masaki, DeMartino, George N, Lawson, Shaneka S
Published in Nature genetics (01.11.2007)
Published in Nature genetics (01.11.2007)
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Journal Article
TM6SF2 rs58542926 impacts lipid processing in liver and small intestine
O'Hare, Elizabeth A., Yang, Rongze, Yerges‐Armstrong, Laura M., Sreenivasan, Urmila, McFarland, Rebecca, Leitch, Carmen C., Wilson, Meredith H., Narina, Shilpa, Gorden, Alexis, Ryan, Kathy A., Shuldiner, Alan R., Farber, Steve A., Wood, G. Craig, Still, Christopher D., Gerhard, Glenn S., Robishaw, Janet D., Sztalryd, Carole, Zaghloul, Norann A.
Published in Hepatology (Baltimore, Md.) (01.05.2017)
Published in Hepatology (Baltimore, Md.) (01.05.2017)
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Journal Article
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
Published in Proceedings of the National Academy of Sciences - PNAS (08.06.2010)
Published in Proceedings of the National Academy of Sciences - PNAS (08.06.2010)
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Journal Article
Genomic knockout of alms1 in zebrafish recapitulates Alström syndrome and provides insight into metabolic phenotypes
Nesmith, Jessica E, Hostelley, Timothy L, Leitch, Carmen C, Matern, Maggie S, Sethna, Saumil, McFarland, Rebecca, Lodh, Sukanya, Westlake, Christopher J, Hertzano, Ronna, Ahmed, Zubair M, Zaghloul, Norann A
Published in Human molecular genetics (01.07.2019)
Published in Human molecular genetics (01.07.2019)
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Journal Article
Loss of Nexmif results in the expression of phenotypic variability and loss of genomic integrity
Stekelenburg, Caroline, Blouin, Jean-Louis, Santoni, Federico, Zaghloul, Norann, O’Hare, Elisabeth A., Dusaulcy, Rodolphe, Maechler, Pierre, Schwitzgebel, Valerie M.
Published in Scientific reports (15.08.2022)
Published in Scientific reports (15.08.2022)
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Journal Article
Missense Mutations in TCF8 Cause Late-Onset Fuchs Corneal Dystrophy and Interact with FCD4 on Chromosome 9p
Riazuddin, S. Amer, Zaghloul, Norann A., Al-Saif, Amr, Davey, Lisa, Diplas, Bill H., Meadows, Danielle N., Eghrari, Allen O., Minear, Mollie A., Li, Yi-Ju, Klintworth, Gordon K., Afshari, Natalie, Gregory, Simon G., Gottsch, John D., Katsanis, Nicholas
Published in American journal of human genetics (2010)
Published in American journal of human genetics (2010)
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Journal Article
Integrated Physiology of the Exocrine and Endocrine Compartments in Pancreatic Diseases: Workshop Proceedings
Mastracci, Teresa L, Apte, Minoti, Amundadottir, Laufey T, Alvarsson, Alexandra, Artandi, Steven, Bellin, Melena D, Bernal-Mizrachi, Ernesto, Caicedo, Alejandro, Campbell-Thompson, Martha, Cruz-Monserrate, Zobeida, El Ouaamari, Abdelfattah, Gaulton, Kyle J, Geisz, Andrea, Goodarzi, Mark O, Hara, Manami, Hull-Meichle, Rebecca L, Kleger, Alexander, Klein, Alison P, Kopp, Janel L, Kulkarni, Rohit N, Muzumdar, Mandar D, Naren, Anjaparavanda P, Oakes, Scott A, Olesen, Søren S, Phelps, Edward A, Powers, Alvin C, Stabler, Cherie L, Tirkes, Temel, Whitcomb, David C, Yadav, Dhiraj, Yong, Jing, Zaghloul, Norann A, Pandol, Stephen J, Sander, Maike
Published in Diabetes (01.04.2023)
Published in Diabetes (01.04.2023)
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Journal Article
Conference Proceeding