Inactivation of Bardet-Biedl syndrome genes causes kidney defects

door Guo, Deng-Fu, Beyer, Andreas M., Yang, Baoli, Nishimura, Darryl Y., Sheffield, Val C., Rahmouni, Kamal
Gepubliceerd in 2011

Mitophagy: An Emerging Target in Ocular Pathology

door Skeie, Jessica M., Nishimura, Darryl Y., Wang, Cheryl L., Schmidt, Gregory A., Aldrich, Benjamin T., Greiner, Mark A.
Gepubliceerd in Invest Ophthalmol Vis Sci (2021)

Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome

door Rahmouni, Kamal, Fath, Melissa A., Seo, Seongjin, Thedens, Daniel R., Berry, Christopher J., Weiss, Robert, Nishimura, Darryl Y., Sheffield, Val C.
Gepubliceerd in 2008

Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet–Biedl syndrome patients

door Hjortshøj, Tina Duelund, Grønskov, Karen, Philp, Alisdair R, Nishimura, Darryl Y, Adeyemo, Adebowale, Rotimi, Charles N, Sheffield, Val C, Rosenberg, Thomas, Brøndum-Nielsen, Karen
Gepubliceerd in 2008

BBSome function is required for both the morphogenesis and maintenance of the photoreceptor outer segment

door Hsu, Ying, Garrison, Janelle E., Kim, Gunhee, Schmitz, Addison R., Searby, Charles C., Zhang, Qihong, Datta, Poppy, Nishimura, Darryl Y., Seo, Seongjin, Sheffield, Val C.
Gepubliceerd in PLoS Genet (2017)

BBS4 is required for intraflagellar transport coordination and basal body number in mammalian olfactory cilia

door Uytingco, Cedric R., Williams, Corey L., Xie, Chao, Shively, Dana T., Green, Warren W., Ukhanov, Kirill, Zhang, Lian, Nishimura, Darryl Y., Sheffield, Val C., Martens, Jeffrey R.
Gepubliceerd in J Cell Sci (2019)

Identification and Functional Analysis of the Vision-Specific BBS3 (ARL6) Long Isoform

door 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.
Gepubliceerd in 2010

Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma

door 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.
Gepubliceerd in 2011

Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma

door 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.
Gepubliceerd in J Clin Invest (2015)

A Spectrum of FOXC1 Mutations Suggests Gene Dosage as a Mechanism for Developmental Defects of the Anterior Chamber of the Eye

door Nishimura, Darryl Y., Searby, Charles C., Alward, Wallace L., Walton, David, Craig, Jamie E., Mackey, David A., Kawase, Kazuhide, Kanis, Adam B., Patil, Shivanand R., Stone, Edwin M., Sheffield, Val C.
Gepubliceerd in 2001

Comparative Genomics and Gene Expression Analysis Identifies BBS9, a New Bardet-Biedl Syndrome Gene

door Nishimura, Darryl Y., Swiderski, Ruth E., Searby, Charles C., Berg, Erik M., Ferguson, Amanda L., Hennekam, Raoul, Merin, Saul, Weleber, Richard G., Biesecker, Leslie G., Stone, Edwin M., Sheffield, Val C.
Gepubliceerd in 2005

Gene Therapeutic Reversal of Peripheral Olfactory Impairment in Bardet-Biedl Syndrome

door Williams, Corey L., Uytingco, Cedric R., Green, Warren W., McIntyre, Jeremy C., Ukhanov, Kirill, Zimmerman, Arthur D., Shively, Dana T., Zhang, Lian, Nishimura, Darryl Y., Sheffield, Val C., Martens, Jeffrey R.
Gepubliceerd in Mol Ther (2017)

Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin

door Nishimura, Darryl Y., Fath, Melissa, Mullins, Robert F., Searby, Charles, Andrews, Michael, Davis, Roger, Andorf, Jeaneen L., Mykytyn, Kirk, Swiderski, Ruth E., Yang, Baoli, Carmi, Rivka, Stone, Edwin M., Sheffield, Val C.
Gepubliceerd in 2004

Solubilized Ubiquinol for Preserving Corneal Function

door Naguib, Youssef W., Saha, Sanjib, Skeie, Jessica M., Acri, Timothy, Ebeid, Kareem, Abdel-rahman, Somaya, Kesh, Sandeep, Schmidt, Gregory A., Nishimura, Darryl Y., Banas, Jeffrey A., Zhu, Min, Greiner, Mark A., Salem, Aliasger K.
Gepubliceerd in Biomaterials (2021)

Generation of a High-Density Rat EST Map

door Scheetz, Todd E., Raymond, Michael R., Nishimura, Darryl Y., McClain, Ann, Roberts, Chad, Birkett, Clay, Gardiner, Jack, Zhang, Jie, Butters, Nichole, Sun, Christine, Kwitek-Black, Anne, Jacob, Howard, Casavant, Thomas L., Soares, M. Bento, Sheffield, Val C.
Gepubliceerd in 2001

Abnormal development of NG2(+)PDGFRα(+) neural progenitor cells leads to neonatal hydrocephalus in a ciliopathy mouse model

door 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.
Gepubliceerd in 2012

Discovery and Functional Analysis of a Retinitis Pigmentosa Gene, C2ORF71

door Nishimura, Darryl Y., Baye, Lisa M., Perveen, Rahat, Searby, Charles C., Avila-Fernandez, Almudena, Pereiro, Ines, Ayuso, Carmen, Valverde, Diana, Bishop, Paul N., Manson, Forbes D.C., Urquhart, Jill, Stone, Edwin M., Slusarski, Diane C., Black, Graeme C.M., Sheffield, Val C.
Gepubliceerd in 2010

Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet–Biedl syndrome gene (BBS11)

door 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.
Gepubliceerd in 2006

A knockin mouse model of the Bardet–Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity

door Davis, Roger E., Swiderski, Ruth E., Rahmouni, Kamal, Nishimura, Darryl Y., Mullins, Robert F., Agassandian, Khristofor, Philp, Alisdair R., Searby, Charles C., Andrews, Michael P., Thompson, Stewart, Berry, Christopher J., Thedens, Daniel R., Yang, Baoli, Weiss, Robert M., Cassell, Martin D., Stone, Edwin M., Sheffield, Val C.
Gepubliceerd in 2007

Evaluation of Complex Inheritance Involving the Most Common Bardet-Biedl Syndrome Locus (BBS1)

door Mykytyn, Kirk, Nishimura, Darryl Y., Searby, Charles C., Beck, Gretel, Bugge, Kevin, Haines, Heidi L., Cornier, Alberto S., Cox, Gerald F., Fulton, Anne B., Carmi, Rivka, Iannaccone, Alessandro, Jacobson, Samuel G., Weleber, Richard G., Wright, Alan F., Riise, Ruth, Hennekam, Raoul C. M., Lüleci, Güven, Berker-Karauzum, Sibel, Biesecker, Leslie G., Stone, Edwin M., Sheffield, Val C.
Gepubliceerd in 2003