The master transcription factor SOX2, mutated in anophthalmia/microphthalmia, is post-transcriptionally regulated by the conserved RNA-binding protein RBM24 in vertebrate eye development
Dash, Soma, Brastrom, Lindy K, Patel, Shaili D, Scott, C Anthony, Slusarski, Diane C, Lachke, Salil A
Published in Human molecular genetics (13.03.2020)
Published in Human molecular genetics (13.03.2020)
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Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21)
Heon, Elise, Kim, Gunhee, Qin, Sophie, Garrison, Janelle E, Tavares, Erika, Vincent, Ajoy, Nuangchamnong, Nina, Scott, C Anthony, Slusarski, Diane C, Sheffield, Val C
Published in Human molecular genetics (01.06.2016)
Published in Human molecular genetics (01.06.2016)
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Primary cilia membrane assembly is initiated by Rab11 and transport protein particle II (TRAPPII) complex-dependent trafficking of Rabin8 to the centrosome
Westlake, Christopher J, Baye, Lisa M, Nachury, Maxence V, Wright, Kevin J, Ervin, Karen E, Phu, Lilian, Chalouni, Cecile, Beck, John S, Kirkpatrick, Donald S, Slusarski, Diane C, Sheffield, Val C, Scheller, Richard H, Jackson, Peter K
Published in Proceedings of the National Academy of Sciences - PNAS (15.02.2011)
Published in Proceedings of the National Academy of Sciences - PNAS (15.02.2011)
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BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly
Seo, Seongjin, Baye, Lisa M, Schulz, Nathan P, Beck, John S, Zhang, Qihong, Slusarski, Diane C, Sheffield, Val C
Published in Proceedings of the National Academy of Sciences - PNAS (26.01.2010)
Published in Proceedings of the National Academy of Sciences - PNAS (26.01.2010)
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An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium
Wright, Kevin J, Baye, Lisa M, Olivier-Mason, Anique, Mukhopadhyay, Saikat, Sang, Liyun, Kwong, Mandy, Wang, Weiru, Pretorius, Pamela R, Sheffield, Val C, Sengupta, Piali, Slusarski, Diane C, Jackson, Peter K
Published in Genes & development (15.11.2011)
Published in Genes & development (15.11.2011)
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Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein
Scott, Charles Anthony, Marsden, Autumn N, Rebagliati, Michael R, Zhang, Qihong, Chamling, Xitiz, Searby, Charles C, Baye, Lisa M, Sheffield, Val C, Slusarski, Diane C
Published in PLoS genetics (28.07.2017)
Published in PLoS genetics (28.07.2017)
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A Core Complex of BBS Proteins Cooperates with the GTPase Rab8 to Promote Ciliary Membrane Biogenesis
Nachury, Maxence V., Loktev, Alexander V., Zhang, Qihong, Westlake, Christopher J., Peränen, Johan, Merdes, Andreas, Slusarski, Diane C., Scheller, Richard H., Bazan, J. Fernando, Sheffield, Val C., Jackson, Peter K.
Published in Cell (15.06.2007)
Published in Cell (15.06.2007)
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Automated, high‐throughput, in vivo analysis of visual function using the zebrafish
Scott, C. Anthony, Marsden, Autumn N., Slusarski, Diane C.
Published in Developmental dynamics (01.05.2016)
Published in Developmental dynamics (01.05.2016)
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Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways
Sang, Liyun, Miller, Julie J., Corbit, Kevin C., Giles, Rachel H., Brauer, Matthew J., Otto, Edgar A., Baye, Lisa M., Wen, Xiaohui, Scales, Suzie J., Kwong, Mandy, Huntzicker, Erik G., Sfakianos, Mindan K., Sandoval, Wendy, Bazan, J. Fernando, Kulkarni, Priya, Garcia-Gonzalo, Francesc R., Seol, Allen D., O'Toole, John F., Held, Susanne, Reutter, Heiko M., Lane, William S., Rafiq, Muhammad Arshad, Noor, Abdul, Ansar, Muhammad, Devi, Akella Radha Rama, Sheffield, Val C., Slusarski, Diane C., Vincent, John B., Doherty, Daniel A., Hildebrandt, Friedhelm, Reiter, Jeremy F., Jackson, Peter K.
Published in Cell (13.05.2011)
Published in Cell (13.05.2011)
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A BBSome Subunit Links Ciliogenesis, Microtubule Stability, and Acetylation
Loktev, Alexander V., Zhang, Qihong, Beck, John S., Searby, Charles C., Scheetz, Todd E., Bazan, J. Fernando, Slusarski, Diane C., Sheffield, Val C., Jackson, Peter K., Nachury, Maxence V.
Published in Developmental cell (01.12.2008)
Published in Developmental cell (01.12.2008)
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Wnt5b-Ryk pathway provides directional signals to regulate gastrulation movement
Lin, Shengda, Baye, Lisa M, Westfall, Trudi A, Slusarski, Diane C
Published in The Journal of cell biology (26.07.2010)
Published in The Journal of cell biology (26.07.2010)
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Development and biological characterization of a clinical gene transfer vector for the treatment of MAK-associated retinitis pigmentosa
Tucker, Budd A., Burnight, Erin R., Cranston, Cathryn M., Ulferts, Mallory J., Luse, Meagan A., Westfall, Trudi, Scott, C. Anthony, Marsden, Autumn, Gibson-Corley, Katherine, Wiley, Luke A., Han, Ian C., Slusarski, Diane C., Mullins, Robert F., Stone, Edwin M.
Published in Gene therapy (01.05.2022)
Published in Gene therapy (01.05.2022)
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Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis
DeLuca, Adam P, Whitmore, S Scott, Barnes, Jenna, Sharma, Tasneem P, Westfall, Trudi A, Scott, C Anthony, Weed, Matthew C, Wiley, Jill S, Wiley, Luke A, Johnston, Rebecca M, Schnieders, Michael J, Lentz, Steven R, Tucker, Budd A, Mullins, Robert F, Scheetz, Todd E, Stone, Edwin M, Slusarski, Diane C
Published in Human molecular genetics (01.01.2016)
Published in Human molecular genetics (01.01.2016)
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Homozygosity Mapping with SNP Arrays Identifies TRIM32, an E3 Ubiquitin Ligase, as a Bardet-Biedl Syndrome Gene (BBS11)
Chiang, Annie P., Beck, John S., Yen, Hsan-Jan, Tayeh, Marwan K., Scheetz, Todd E., Swiderski, Ruth E., Nishimura, Darryl Y., Braun, Terry A., Kim, Kwang-Youn A., Huang, Jian, Elbedour, Khalil, Carmi, Rivka, Slusarski, Diane C., Casavant, Thomas L., Stone, Edwin M., Sheffield, Val C.
Published in Proceedings of the National Academy of Sciences - PNAS (18.04.2006)
Published in Proceedings of the National Academy of Sciences - PNAS (18.04.2006)
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Identification and functional analysis of the vision-specific BBS3 (ARL6) long isoform
Pretorius, Pamela R, Baye, Lisa M, Nishimura, Darryl Y, Searby, Charles C, Bugge, Kevin, Yang, Baoli, Mullins, Robert F, Stone, Edwin M, Sheffield, Val C, Slusarski, Diane C
Published in PLoS genetics (01.03.2010)
Published in PLoS genetics (01.03.2010)
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Activation of the planar cell polarity formin DAAM1 leads to inhibition of endothelial cell proliferation, migration, and angiogenesis
Ju, Rong, Cirone, Pasquale, Lin, Shengda, Griesbach, Hilary, Slusarski, Diane C, Crews, Craig M
Published in Proceedings of the National Academy of Sciences - PNAS (13.04.2010)
Published in Proceedings of the National Academy of Sciences - PNAS (13.04.2010)
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