Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma
Zode, Gulab S, Kuehn, Markus H, Nishimura, Darryl Y, Searby, Charles C, Mohan, Kabhilan, Grozdanic, Sinisa D, Bugge, Kevin, Anderson, Michael G, Clark, Abbot F, Stone, Edwin M, Sheffield, Val C
Published in The Journal of clinical investigation (01.09.2011)
Published in The Journal of clinical investigation (01.09.2011)
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Journal Article
A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened
Seo, Seongjin, Zhang, Qihong, Bugge, Kevin, Breslow, David K, Searby, Charles C, Nachury, Maxence V, Sheffield, Val C
Published in PLoS genetics (01.11.2011)
Published in PLoS genetics (01.11.2011)
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Journal Article
Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes
Zhang, Qihong, Nishimura, Darryl, Seo, Seongjin, Vogel, Tim, Morgan, Donald A, Searby, Charles, Bugge, Kevin, Stone, Edwin M, Rahmouni, Kamal, Sheffield, Val C
Published in Proceedings of the National Academy of Sciences - PNAS (20.12.2011)
Published in Proceedings of the National Academy of Sciences - PNAS (20.12.2011)
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Journal Article
BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking
Zhang, Qihong, Nishimura, Darryl, Vogel, Tim, Shao, Jianqiang, Swiderski, Ruth, Yin, Terry, Searby, Charles, Carter, Calvin S, Kim, Gunhee, Bugge, Kevin, Stone, Edwin M, Sheffield, Val C
Published in Journal of cell science (01.06.2013)
Published in Journal of cell science (01.06.2013)
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Journal Article
Topical ocular sodium 4-phenylbutyrate rescues glaucoma in a myocilin mouse model of primary open-angle glaucoma
Zode, Gulab S, Bugge, Kevin E, Mohan, Kabhilan, Grozdanic, Sinisa D, Peters, Joseph C, Koehn, Demelza R, Anderson, Michael G, Kardon, Randy H, Stone, Edwin M, Sheffield, Val C
Published in Investigative ophthalmology & visual science (01.03.2012)
Published in Investigative ophthalmology & visual science (01.03.2012)
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Journal Article
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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Journal Article
Ectopic expression of human BBS4 can rescue Bardet-Biedl syndrome phenotypes in Bbs4 null mice
Chamling, Xitiz, Seo, Seongjin, Bugge, Kevin, Searby, Charles, Guo, Deng F, Drack, Arlene V, Rahmouni, Kamal, Sheffield, Val C
Published in PloS one (15.03.2013)
Published in PloS one (15.03.2013)
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Journal Article
Loss of Bardet-Biedl Syndrome Proteins Alters the Morphology and Function of Motile Cilia in Airway Epithelia
Shah, Alok S., Farmen, Sara L., Moninger, Thomas O., Businga, Thomas R., Andrews, Michael P., Bugge, Kevin, Searby, Charles C., Nishimura, Darryl, Brogden, Kim A., Kline, Joel N., Sheffield, Val C., Welsh, Michael J.
Published in Proceedings of the National Academy of Sciences - PNAS (04.03.2008)
Published in Proceedings of the National Academy of Sciences - PNAS (04.03.2008)
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Journal Article
Structural defects in cilia of the choroid plexus, subfornical organ and ventricular ependyma are associated with ventriculomegaly
Swiderski, Ruth E, Agassandian, Khristofor, Ross, Jean L, Bugge, Kevin, Cassell, Martin D, Yeaman, Charles
Published in Fluids and barriers of the CNS (09.10.2012)
Published in Fluids and barriers of the CNS (09.10.2012)
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Journal Article
Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)
NISHIMURA, Darryl Y, SEARBY, Charles C, HAIDER, Neena B, KWITEK-BLACK, Anne E, LIHUA YING, DUHL, David M, GORMAN, Susan W, HEON, Elise, IANNACCONE, Alessandro, BONNEAU, Dominique, BIESECKER, Leslie G, JACOBSON, Samuel G, CARMI, Rivka, STONE, Edwin M, SHEFFIELD, Val C, ELBEDOUR, Khalil, VAN MALDERGEM, Lionel, FULTON, Anne B, LAM, Byron L, POWELL, Berkley R, SWIDERSKI, Ruth E, BUGGE, Kevin E
Published in Human molecular genetics (01.04.2001)
Published in Human molecular genetics (01.04.2001)
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Journal Article
CRISPR-Cas9–based treatment of myocilin-associated glaucoma
Jain, Ankur, Zode, Gulab, Kasetti, Ramesh B., Ran, Fei A., Yan, Winston, Sharma, Tasneem P., Bugge, Kevin, Searby, Charles C., Fingert, John H., Zhang, Feng, Clark, Abbot F., Sheffield, Val C.
Published in Proceedings of the National Academy of Sciences - PNAS (17.10.2017)
Published in Proceedings of the National Academy of Sciences - PNAS (17.10.2017)
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Journal Article
BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes
QIHONG ZHANG, SEO, Seongjin, BUGGE, Kevin, STONE, Edwin M, SHEFFIELD, Val C
Published in Human molecular genetics (01.05.2012)
Published in Human molecular genetics (01.05.2012)
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Journal Article
Ocular-specific ER stress reduction rescues glaucoma in murine glucocorticoid-induced glaucoma
Zode, Gulab S, Sharma, Arti B, Lin, Xiaolei, Searby, Charles C, Bugge, Kevin, Kim, Gun Hee, Clark, Abbot F, Sheffield, Val C
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
Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling
Seo, Seongjin, Guo, Deng-Fu, Bugge, Kevin, Morgan, Donald A., Rahmouni, Kamal, Sheffield, Val C.
Published in Human molecular genetics (01.04.2009)
Published in Human molecular genetics (01.04.2009)
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Journal Article
BBS mutations modify phenotypic expression of CEP290-related ciliopathies
Zhang, Yan, Seo, Seongjin, Bhattarai, Sajag, Bugge, Kevin, Searby, Charles C, Zhang, Qihong, Drack, Arlene V, Stone, Edwin M, Sheffield, Val C
Published in Human molecular genetics (01.01.2014)
Published in Human molecular genetics (01.01.2014)
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Journal Article
Abnormal development of NG2+PDGFR-α+ neural progenitor cells leads to neonatal hydrocephalus in a ciliopathy mouse model
Carter, Calvin S, Vogel, Timothy W, Zhang, Qihong, Seo, Seongjin, Swiderski, Ruth E, Moninger, Thomas O, Cassell, Martin D, Thedens, Daniel R, Keppler-Noreuil, Kim M, Nopoulos, Peggy, Nishimura, Darryl Y, Searby, Charles C, Bugge, Kevin, Sheffield, Val C
Published in Nature medicine (01.12.2012)
Published in Nature medicine (01.12.2012)
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Journal Article
Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma
Zode, Gulab S, Kuehn, Markus H, Nishimura, Darryl Y, Searby, Charles C, Mohan, Kabhilan, Grozdanic, Sinisa D, Bugge, Kevin, Anderson, Michael G, Clark, Abbot F, Stone, Edwin M, Sheffield, Val C
Published in The Journal of clinical investigation (01.08.2015)
Published in The Journal of clinical investigation (01.08.2015)
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Journal Article
Ocular-specific ER stress reduction rescues glaucoma in murine glucocorticoid-induced glaucoma
Zode, Gulab S, Sharma, A, Lin, Xiaolei, Searby, Charles C, Bugge, Kevin, Kim, Gun Hee, Clark, Abbot F, Sheffield, Val C
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
A Novel Protein LZTFL1 Regulates Ciliary Trafficking of the BBSome and Smoothened: e1002358
Seo, Seongjin, Zhang, Qihong, Bugge, Kevin, Breslow, David K, Searby, Charles C, Nachury, Maxence V, Sheffield, Val C
Published in PLoS genetics (01.11.2011)
Published in PLoS genetics (01.11.2011)
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Journal Article
Abnormal development of NG2+PDGFR-[alpha]+ neural progenitor cells leads to neonatal hydrocephalus in a ciliopathy mouse model
Carter, Calvin S, Vogel, Timothy W, Zhang, Qihong, Seo, Seongjin, Swiderski, Ruth E, Moninger, Thomas O, Cassell, Martin D, Thedens, Daniel R, Keppler-noreuil, Kim M, Nopoulos, Peggy, Nishimura, Darryl Y, Searby, Charles C, Bugge, Kevin, Sheffield, Val C
Published in Nature medicine (01.12.2012)
Published in Nature medicine (01.12.2012)
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