BBS4 Is Necessary for Ciliary Localization of TrkB Receptor and Activation by BDNF

Por Leitch, Carmen C., Zaghloul, Norann A.
Publicado em 2014

In vivo evidence that truncated trkB.T1 participates in nociception

Por Renn, Cynthia L, Leitch, Carmen C, Dorsey, Susan G
Publicado em 2009

Basal body proteins regulate Notch signaling through endosomal trafficking

Por Leitch, Carmen C., Lodh, Sukanya, Prieto-Echagüe, Victoria, Badano, Jose L., Zaghloul, Norann A.
Publicado em 2014

Differential effects on β-cell mass by disruption of Bardet–Biedl syndrome or Alstrom syndrome genes

Por Lodh, Sukanya, Hostelley, Timothy L., Leitch, Carmen C., O'Hare, Elizabeth A., Zaghloul, Norann A.
Publicado no Hum Mol Genet (2016)

Identification of a Novel Bardet-Biedl Syndrome Protein, BBS7, That Shares Structural Features with BBS1 and BBS2

Por Badano, José L., Ansley, Stephen J., Leitch, Carmen C., Lewis, Richard Alan, Lupski, James R., Katsanis, Nicholas
Publicado em 2003

Genome-Wide Screen Identifies Drug-Induced Regulation of the Gene Giant Axonal Neuropathy (Gan) in a Mouse Model of Antiretroviral-Induced Painful Peripheral Neuropathy

Por Dorsey, Susan G., Leitch, Carmen C., Renn, Cynthia L., Lessans, Sherrie, Smith, Barbara A., Wang, Xiao M., Dionne, Raymond A.
Publicado em 2009

Survey of Human Chromosome 21 Gene Expression Effects on Early Development in Danio rerio

Por Edie, Sarah, Zaghloul, Norann A., Leitch, Carmen C., Klinedinst, Donna K., Lebron, Janette, Thole, Joey F., McCallion, Andrew S., Katsanis, Nicholas, Reeves, Roger H.
Publicado no G3 (Bethesda) (2018)

Genomic knockout of alms1 in zebrafish recapitulates Alström syndrome and provides insight into metabolic phenotypes

Por 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
Publicado no Hum Mol Genet (2019)

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

Por 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
Publicado em 2010

Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators

Por 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
Publicado em 2014

An Essential Role for DYF-11/MIP-T3 in Assembling Functional Intraflagellar Transport Complexes

Por Li, Chunmei, Inglis, Peter N., Leitch, Carmen C., Efimenko, Evgeni, Zaghloul, Norann A., Mok, Calvin A., Davis, Erica E., Bialas, Nathan J., Healey, Michael P., Héon, Elise, Zhen, Mei, Swoboda, Peter, Katsanis, Nicholas, Leroux, Michel R.
Publicado em 2008

TM6SF2 rs58542926 impacts lipid processing in liver and small intestine

Por O’Hare, Elizabeth A., Yang, Rongze, Yerges-Armstrong, Laura, Sreenivasan, Urmilla, McFarland, Rebecca, Leitch, Carmen C., Wilson, Meredith H., Narina, Shilpa, Gorden, Alexis, Ryan, Kathy, Shuldiner, Alan R., Farber, Steve A., Wood, G. Craig, Still, Christopher D., Gerhard, Glenn S., Robishaw, Janet D., Sztalryd, Carole, Zaghloul, Norann A.
Publicado no Hepatology (2017)

FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1

Por Khan, Shahid Y., Vasanth, Shivakumar, Kabir, Firoz, Gottsch, John D., Khan, Arif O., Chaerkady, Raghothama, Lee, Mei-Chong W., Leitch, Carmen C., Ma, Zhiwei, Laux, Julie, Villasmil, Rafael, Khan, Shaheen N., Riazuddin, Sheikh, Akram, Javed, Cole, Robert N., Talbot, C. Conover, Pourmand, Nader, Zaghloul, Norann A., Hejtmancik, J. Fielding, Riazuddin, S. Amer
Publicado no Nat Commun (2016)

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

Por Stoetzel, Corinne, Muller, Jean, Laurier, Virginie, Davis, Erica E., Zaghloul, Norann A., Vicaire, Serge, Jacquelin, Cécile, Plewniak, Frédéric, Leitch, Carmen C., Sarda, Pierre, Hamel, Christian, de Ravel, Thomy J. L., Lewis, Richard Alan, Friederich, Evelyne, Thibault, Christelle, Danse, Jean-Marc, Verloes, Alain, Bonneau, Dominique, Katsanis, Nicholas, Poch, Olivier, Mandel, Jean-Louis, Dollfus, Hélène
Publicado em 2007

RFX transcription factors are essential for hearing in mice

Por 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
Publicado no Nat Commun (2015)

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

Por 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.
Publicado no Nat Commun (2019)

Genetic deletion of trkB.T1 increases neuromuscular function

Por Dorsey, Susan G., Lovering, Richard M., Renn, Cynthia L., Leitch, Carmen C., Liu, Xinyue, Tallon, Luke J., Sadzewicz, Lisa DeShong, Pratap, Abhishek, Ott, Sandra, Sengamalay, Naomi, Jones, Kristie M., Barrick, Colleen, Fulgenzi, Gianluca, Becker, Jodi, Voelker, Kevin, Talmadge, Robert, Harvey, Brandon K., Wyatt, Ryan M., Vernon-Pitts, Elizabeth, Zhang, Chao, Shokat, Kevan, Fraser-Liggett, Claire, Balice-Gordon, Rita J., Tessarollo, Lino, Ward, Christopher W.
Publicado em 2012