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

por Leitch, Carmen C., Zaghloul, Norann A.
Publicado 2014

In vivo evidence that truncated trkB.T1 participates in nociception

por Renn, Cynthia L, Leitch, Carmen C, Dorsey, Susan G
Publicado 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 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 en 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 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 2009

Exocrine pancreas proteases regulate β-cell proliferation in zebrafish ciliopathy models and in murine systems

por Hostelley, Timothy L., Nesmith, Jessica E., Larkin, Emily, Jones, Amanda, Boyes, Daniel, Leitch, Carmen C., Fontaine, Magali, Zaghloul, Norann A.
Publicado en Biol Open (2021)

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 en 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 en 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 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 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 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 en 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 en 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 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 en 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 en Nat Commun (2019)

A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome

por Delvallée, Clarisse, Nicaise, Samuel, Antin, Manuela, Leuvrey, Anne-Sophie, Nourisson, Elsa, Leitch, Carmen C., Kellaris, Georgios, Stoetzel, Corinne, Geoffroy, Véronique, Scheidecker, Sophie, Keren, Boris, Depienne, Christel, Klar, Joakim, Dahl, Niklas, Deleuze, Jean-François, Génin, Emmanuelle, Redon, Richard, Demurger, Florence, Devriendt, Koenraad, Mathieu-Dramard, Michèle, Poitou-Bernert, Christine, Odent, Sylvie, Katsanis, Nicholas, Mandel, Jean-Louis, Davis, Erica E., Dollfus, Hélène, Muller, Jean
Publicado en Clin Genet (2020)

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 2012