Resultats de la cerca - Norann A. Zaghloul

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  1. 1
    Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy

    Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy per Norann A. Zaghloul, Nicholas Katsanis

    Publicat 2009
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  2. 2
    Functional modules, mutational load and human genetic disease

    Functional modules, mutational load and human genetic disease per Norann A. Zaghloul, Nicholas Katsanis

    Publicat 2010
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  3. 3
    The emerging face of primary cilia

    The emerging face of primary cilia per Norann A. Zaghloul, Samantha A. Brugmann

    Publicat 2011
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  4. 4
    Primary cilia in pancreatic development and disease

    Primary cilia in pancreatic development and disease per Sukanya Lodh, Elizabeth A. O’Hare, Norann A. Zaghloul

    Publicat 2014
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  5. 5
    Basal body proteins regulate Notch signaling via endosomal trafficking

    Basal body proteins regulate Notch signaling via endosomal trafficking per Carmen C. Leitch, Sukanya Lodh, Victoria Prieto-Echagüe, José L. Badano, Norann A. Zaghloul

    Publicat 2014
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  6. 6
    Nde1-mediated inhibition of ciliogenesis affects cell cycle re-entry

    Nde1-mediated inhibition of ciliogenesis affects cell cycle re-entry per Sehyun Kim, Norann A. Zaghloul, Ekaterina Bubenshchikova, Edwin C. Oh, Susannah Rankin, Nicholas Katsanis, Tomoko Obara, Leonidas Tsiokas

    Publicat 2011
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  7. 7
    Survey of Human Chromosome 21 Gene Expression Effects on Early Development in <i>Danio rerio</i>

    Survey of Human Chromosome 21 Gene Expression Effects on Early Development in <i>Danio rerio</i> per Sarah Edie, Norann A. Zaghloul, Carmen C. Leitch, Donna Klinedinst, Janette Lebron, Joseph F. Thole, Andrew S. McCallion, Nicholas Katsanis, Roger H. Reeves

    Publicat 2018
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  8. 8
    Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet–Biedl syndrome

    Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet–Biedl syndrome per Norann A. Zaghloul, Yangjian Liu, Jantje M. Gerdes, Cecilia Gascue, Edwin C. Oh, Carmen C. Leitch, Yana Bromberg, Jonathan Binkley, Rudolph L. Leibel, Arend Sidow, José L. Badano, Nicholas Katsanis

    Publicat 2010
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  9. 9
    Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators

    Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators per Yangfan P. Liu, I-Chun Tsai, Manuela Morleo, Edwin C. Oh, Carmen C. Leitch, Filomena Massa, Byung‐Hoon Lee, D. S. Parker, Daniel Finley, Norann A. Zaghloul, Brunella Franco, Nicholas Katsanis

    Publicat 2014
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  10. 10
    Missense Mutations in TCF8 Cause Late-Onset Fuchs Corneal Dystrophy and Interact with FCD4 on Chromosome 9p

    Missense Mutations in TCF8 Cause Late-Onset Fuchs Corneal Dystrophy and Interact with FCD4 on Chromosome 9p per Sheikh Riazuddin, Norann A. Zaghloul, Amr Al‐Saif, Lisa Davey, Bill H. Diplas, Danielle N. Meadows, Allen O. Eghrari, Mollie Minear, Yi‐Ju Li, Gordon K. Klintworth, Natalie A. Afshari, Simon G. Gregory, John D. Gottsch, Nicholas Katsanis

    Publicat 2010
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  11. 11
    TM6SF2 rs58542926 impacts lipid processing in liver and small intestine

    TM6SF2 rs58542926 impacts lipid processing in liver and small intestine per Elizabeth A. O’Hare, Rongze Yang, Laura M. Yerges‐Armstrong, Urmila Sreenivasan, Rebecca McFarland, Carmen C. Leitch, Meredith H. Wilson, Shilpa Narina, Alexis Gorden, Kathleen A. Ryan, Alan R. Shuldiner, Steven Farber, G. Craig Wood, Christopher D. Still, Glenn S. Gerhard, Janet D. Robishaw, Carole Sztalryd, Norann A. Zaghloul

    Publicat 2016
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  12. 12
    Identification of a Novel BBS Gene (BBS12) Highlights the Major Role of a Vertebrate-Specific Branch of Chaperonin-Related Proteins in Bardet-Biedl Syndrome

    Identification of a Novel BBS Gene (BBS12) Highlights the Major Role of a Vertebrate-Specific Branch of Chaperonin-Related Proteins in Bardet-Biedl Syndrome per Corinne Stoetzel, Jean Muller, Virginie Laurier, Erica E. Davis, Norann A. Zaghloul, Serge Vicaire, Cécile Jacquelin, Frédéric Plewniak, Carmen C. Leitch, Pierre Sarda, Christian Hamel, Thomy de Ravel, Richard A. Lewis, Evelyne Friederich, Christelle Thibault-Carpentier, Jean-Marc Danse, Alain Verloès, Dominique Bonneau, Nicholas Katsanis, Olivier Poch, Jean‐Louis Mandel, Hélène Dollfus

    Publicat 2006
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  13. 13
    RFX transcription factors are essential for hearing in mice

    RFX transcription factors are essential for hearing in mice per Ran Elkon, Béatrice Milon, Laura Morrison, Manan Shah, Sarath Vijayakumar, Manoj Racherla, Carmen C. Leitch, Lorna E. Silipino, Shadan Hadi, Michèle Weiss‐Gayet, Emmanuèle Barras, Christoph D. Schmid, Aouatef Ait‐Lounis, Ashley H. Barnes, Yang Song, David J. Eisenman, Efrat Eliyahu, Gregory I. Frolenkov, Scott E. Strome, Bénédicte Durand, Norann A. Zaghloul, Sherri M. Jones, Walter Reith, Ronna Hertzano

    Publicat 2015
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  14. 14
    ZRANB3 is an African-specific type 2 diabetes locus associated with beta-cell mass and insulin response

    ZRANB3 is an African-specific type 2 diabetes locus associated with beta-cell mass and insulin response per Adebowale Adeyemo, Norann A. Zaghloul, Guanjie Chen, Ayo P. Doumatey, Carmen C. Leitch, Timothy L. Hostelley, Jessica E. Nesmith, Jie Zhou, Amy R. Bentley, Daniel Shriner, O.A Fasanmade, Godfrey Okafor, Benjamin Eghan, Kofi Agyenim‐Boateng, Settara C. Chandrasekharappa, Jokotade Adeleye, William Balogun, Samuel Owusu, Albert Amoah, Joseph Acheampong, Thomas Johnson, Johnnie Oli, Clement Adebamowo, Ji Chen, Meng Sun, Fraser Pirie, Tommy Carstensen, Cristina Pomilla, Elizabeth Young, Manjinder S. Sandhu, Andrew P. Morris, Inês Barroso, Mark I. McCarthy, Anubha Mahajan, Eleanor Wheeler, Ayesha A. Motala, Francis S. Collins, Georgia M. Dunston, Charles N. Rotimi

    Publicat 2019
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  15. 15
    The Type 2 Diabetes Knowledge Portal: An open access genetic resource dedicated to type 2 diabetes and related traits

    The Type 2 Diabetes Knowledge Portal: An open access genetic resource dedicated to type 2 diabetes and related traits per Maria C. Costanzo, Marcin von Grotthuss, Jeffrey Massung, Dongkeun Jang, Lizz Caulkins, Ryan Koesterer, Clint Gilbert, Ryan Welch, Parul Kudtarkar, Quy Hoang, Andrew P. Boughton, Preeti Singh, Ying Sun, Marc Duby, Annie Moriondo, Trang Thi Huyen Nguyen, Patrick Smadbeck, Benjamin Alexander, MacKenzie Brandes, Mary Carmichael, Peter Dornbos, Todd J. Green, Kenneth C. Huellas-Bruskiewicz, Yue Ji, Alexandria Kluge, Aoife McMahon, Josep M. Mercader, Oliver Ruebenacker, Sebanti Sengupta, Dylan Spalding, Daniel Taliun, Phil Smith, Melissa K. Thomas, Beena Akolkar, M. Julia Brosnan, Andriy Cherkas, Audrey Y. Chu, Eric B. Fauman, Caroline S. Fox, Tania N. Kamphaus, Melissa Miller, Lynette Nguyen, Afshin Parsa, Dermot F. Reilly, Hartmut Ruetten, David Wholley, Norann A. Zaghloul, Gonçalo R. Abecasis, David Altshuler, Thomas Keane, Mark I. McCarthy, Kyle J. Gaulton, José C. Florez, Michael Boehnke, Noël P. Burtt, Jason Flannick, Gonçalo R. Abecasis, Beena Akolkar, Benjamin Alexander, Nicholette D. Allred, David Altshuler, Jennifer E. Below, Richard N. Bergman, Joline W. J. Beulens, John Blangero, Michael Boehnke, Krister Bokvist, Erwin Böttinger, Andrew P. Boughton, Donald W. Bowden, M. Julia Brosnan, Christopher D. Brown, Kenneth Bruskiewicz, Noël P. Burtt, Mary Carmichael, Lizz Caulkins, Inês Cebola, John C. Chambers, Yii‐Der Ida Chen, Andriy Cherkas, Audrey Y. Chu, Christopher Clark, Melina Claussnitzer, Maria C. Costanzo, Nancy J. Cox, Marcel den Hoed, Duc Dong, Marc Duby, Ravindranath Duggirala, Josée Dupuis, Petra J. M. Elders, J Engreitz, Eric B. Fauman, Jorge Ferrer, Jason Flannick, Paul Flicek, Matthew Flickinger, José C. Florez, Caroline S. Fox, Timothy M. Frayling

    Publicat 2023
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