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Select item 109176601.

Genetic determinants of micronucleus formation in vivo

D. J. Adams, B. Barlas, R. E. McIntyre, I. Salguero, L. van der Weyden, A. Barros, J. R. Vicente, N. Karimpour, A. Haider, M. Ranzani, G. Turner, N. A. Thompson, V. Harle, R. Olvera-León, C. D. Robles-Espinoza, A. O. Speak, N. Geisler, W. J. Weninger, S. H. Geyer, J. Hewinson, N. A. Karp, The Sanger Mouse Genetics Project, B. Fu, F. Yang, Z. Kozik, J. Choudhary, L. Yu, M. S. van Ruiten, B. D. Rowland, C. J. Lelliott, M. del Castillo Velasco-Herrera, R. Verstraten, L. Bruckner, A. G. Henssen, M. A. Rooimans, J. de Lange, T. J. Mohun, M. J. Arends, K. A. Kentistou, P. A. Coelho, Y. Zhao, H. Zecchini, J. R. B. Perry, S. P. Jackson, G. Balmus

Nature. 2024; 627(8002): 130–136. Published online 2024 Feb 14. doi: 10.1038/s41586-023-07009-0

PMCID:: PMC10917660

Abstract Article PDF–4.8M

Select item 107522742.

A visually guided swim assay for mouse models of human retinal disease recapitulates the multi-luminance mobility test in humans

Salma Hassan, Ying Hsu, Sara K. Mayer, Jacintha Thomas, Aishwarya Kothapalli, Megan Helms, Sheila A. Baker, Joseph G. Laird, Sajag Bhattarai, Arlene V. Drack

Saudi J Ophthalmol. 2023 Oct-Dec; 37(4): 313–320. Published online 2023 Nov 18. doi: 10.4103/sjopt.sjopt_155_23

PMCID:: PMC10752274

Abstract Article PDF–1.9M

Select item 106705063.

De-Suppression of Mesenchymal Cell Identities and Variable Phenotypic Outcomes Associated with Knockout of Bbs1

Grace Mercedes Freke, Tiago Martins, Rosalind Jane Davies, Tina Beyer, Marian Seda, Emma Peskett, Naila Haq, Avishek Prasai, Georg Otto, Jeshmi Jeyabalan Srikaran, Victor Hernandez, Gaurav D. Diwan, Robert B. Russell, Marius Ueffing, Martina Huranova, Karsten Boldt, Philip L. Beales, Dagan Jenkins

Cells. 2023 Nov; 12(22): 2662. Published online 2023 Nov 20. doi: 10.3390/cells12222662

PMCID:: PMC10670506

Abstract Article PDF–9.5M

Select item 98682754.

Ciliary signaling proteins are mislocalized in the brains of Bardet-Biedl syndrome 1-null mice

Toneisha Stubbs, James I. Bingman, Jason Besse, Kirk Mykytyn

Front Cell Dev Biol. 2022; 10: 1092161. Published online 2023 Jan 9. doi: 10.3389/fcell.2022.1092161

PMCID:: PMC9868275

Abstract Article PDF–2.4M

Select item 98449765.

T cell-specific deficiency in BBSome component BBS1 interferes with selective immune responses

Madeliene Stump, Deng Fu Guo, Kamal Rahmouni

Am J Physiol Regul Integr Comp Physiol. 2023 Feb 1; 324(2): R161–R170. Published online 2022 Dec 19. doi: 10.1152/ajpregu.00243.2022

PMCID:: PMC9844976

Abstract Article

Select item 94624946.

Reversal of ciliary mechanisms of disassembly rescues olfactory dysfunction in ciliopathies

Chao Xie, Julien C. Habif, Kirill Ukhanov, Cedric R. Uytingco, Lian Zhang, Robert J. Campbell, Jeffrey R. Martens

JCI Insight. 2022 Aug 8; 7(15): e158736. Published online 2022 Aug 8. doi: 10.1172/jci.insight.158736

PMCID:: PMC9462494

Abstract Article PDF–2.1M

Select item 94360167.

Disruption of Dopamine Receptor 1 Localization to Primary Cilia Impairs Signaling in Striatal Neurons

Toneisha Stubbs, Andrew Koemeter-Cox, James I. Bingman, Fangli Zhao, Anuradha Kalyanasundaram, Leslie A. Rowland, Muthu Periasamy, Calvin S. Carter, Val C. Sheffield, Candice C. Askwith, Kirk Mykytyn

J Neurosci. 2022 Aug 31; 42(35): 6692–6705. doi: 10.1523/JNEUROSCI.0497-22.2022

PMCID:: PMC9436016

Abstract Article PDF–3.0M

Select item 94220888.

Ectopic expression of BBS1 rescues male infertility, but not retinal degeneration, in a BBS1 mouse model

Matthew R. Cring, Kacie J. Meyer, Charles C. Searby, Adam Hedberg-Buenz, Michael Cave, Michael G. Anderson, Kai Wang, Val C. Sheffield

Gene Ther. Author manuscript; available in PMC 2022 Aug 29.

Published in final edited form as: Gene Ther. 2022 May; 29(5): 227–235. Published online 2021 Mar 4. doi: 10.1038/s41434-021-00241-1

PMCID:: PMC9422088

Abstract Article PDF–976K

Select item 87859729.

Gene therapy rescues olfactory perception in a clinically relevant ciliopathy model of Bardet-Biedl syndrome

Chao Xie, Julien C. Habif, Cedric R. Uytingco, Kirill Ukhanov, Lian Zhang, Carlos de Celis, Val C. Sheffield, Jeffrey R. Martens

FASEB J. Author manuscript; available in PMC 2022 Jan 24.

Published in final edited form as: FASEB J. 2021 Sep; 35(9): e21766. doi: 10.1096/fj.202100627R

PMCID:: PMC8785972

Abstract Article PDF–1.6M

Select item 837970210.

Endothelial BBSome is essential for vascular, metabolic, and retinal functions

Jingwei Jiang, John J. Reho, Sajag Bhattarai, Ioana Cherascu, Adam Hedberg-Buenz, Kacie J. Meyer, Fariba Tayyari, Adam J. Rauckhorst, Deng Fu Guo, Donald A. Morgan, Eric B. Taylor, Michael G. Anderson, Arlene V. Drack, Kamal Rahmouni

Mol Metab. 2021 Nov; 53: 101308. Published online 2021 Jul 23. doi: 10.1016/j.molmet.2021.101308

PMCID:: PMC8379702

Abstract Article PDF–2.7M

Select item 826248111.

Bardet-Biedl syndrome proteins regulate intracellular signaling and neuronal function in patient-specific iPSC-derived neurons

Liheng Wang, Yang Liu, George Stratigopoulos, Sunil Panigrahi, Lina Sui, Yiying Zhang, Charles A. Leduc, Hannah J. Glover, Maria Caterina De Rosa, Lisa C. Burnett, Damian J. Williams, Linshan Shang, Robin Goland, Stephen H. Tsang, Sharon Wardlaw, Dieter Egli, Deyou Zheng, Claudia A. Doege, Rudolph L. Leibel

J Clin Invest. 2021 Apr 15; 131(8): e146287. Published online 2021 Apr 15. doi: 10.1172/JCI146287

PMCID:: PMC8262481

Abstract Article PDF–10M

Select item 806521412.

BBSome ablation in SF1 neurons causes obesity without comorbidities

Mohamed Rouabhi, Deng-Fu Guo, Donald A. Morgan, Zhiyong Zhu, Miguel López, Leonid Zingman, Justin L. Grobe, Kamal Rahmouni

Mol Metab. 2021 Jun; 48: 101211. Published online 2021 Mar 13. doi: 10.1016/j.molmet.2021.101211

PMCID:: PMC8065214

Abstract Article PDF–2.0M

Select item 806187113.

A mouse model of Bardet-Biedl Syndrome has impaired fear memory, which is rescued by lithium treatment

Thomas K. Pak, Calvin S. Carter, Qihong Zhang, Sunny C. Huang, Charles Searby, Ying Hsu, Rebecca J. Taugher, Tim Vogel, Christopher C. Cychosz, Rachel Genova, Nina N. Moreira, Hanna Stevens, John A. Wemmie, Andrew A. Pieper, Kai Wang, Val C. Sheffield

PLoS Genet. 2021 Apr; 17(4): e1009484. Published online 2021 Apr 22. doi: 10.1371/journal.pgen.1009484

PMCID:: PMC8061871

Abstract Article PDF–3.2M

Select item 781971114.

Exposure to static magnetic and electric fields treats type 2 diabetes

Calvin S. Carter, Sunny C. Huang, Charles C. Searby, Benjamin Cassaidy, Michael J. Miller, Wojciech J. Grzesik, Ted B. Piorczynski, Thomas K. Pak, Susan A. Walsh, Michael Acevedo, Qihong Zhang, Kranti A. Mapuskar, Ginger L. Milne, Antentor O. Hinton, Jr., Deng-Fu Guo, Robert Weiss, Kyle Bradberry, Eric B Taylor, Adam J. Rauckhorst, David W. Dick, Vamsidhar Akurathi, Kelly C. Falls-Hubert, Brett A. Wagner, Walter A. Carter, Kai Wang, Andrew W. Norris, Kamal Rahmouni, Garry R. Buettner, Jason M. Hansen, Douglas R. Spitz, E. Dale Abel, Val C. Sheffield

Cell Metab. Author manuscript; available in PMC 2021 Oct 6.

Published in final edited form as: Cell Metab. 2020 Oct 6; 32(4): 561–574.e7. doi: 10.1016/j.cmet.2020.09.012

Correction in:: Cell Metab. 2020 Dec 1; 32(6): 1076.

Correction in:: Cell Metab. 2022 Nov 1; 34(11): 1893.

PMCID:: PMC7819711

Abstract Article PDF–2.2M

Select item 723992015.

The absence of BBSome function decreases synaptogenesis and causes ectopic synapse formation in the retina

Ying Hsu, Janelle E. Garrison, Seongjin Seo, Val C. Sheffield

Sci Rep. 2020; 10: 8321. Published online 2020 May 20. doi: 10.1038/s41598-020-65233-4

PMCID:: PMC7239920

Abstract Article PDF–7.8M

Select item 722702816.

Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss

Gayle B. Collin, Navdeep Gogna, Bo Chang, Nattaya Damkham, Jai Pinkney, Lillian F. Hyde, Lisa Stone, Jürgen K. Naggert, Patsy M. Nishina, Mark P. Krebs

Cells. 2020 Apr; 9(4): 931. Published online 2020 Apr 10. doi: 10.3390/cells9040931

PMCID:: PMC7227028

Abstract Article PDF–5.4M

Select item 676661717.

The Bardet-Biedl syndrome protein complex regulates cell migration and tissue repair through a Cullin-3/RhoA pathway

Deng-Fu Guo, Kamal Rahmouni

Am J Physiol Cell Physiol. 2019 Sep 1; 317(3): C457–C465. Published online 2019 Jun 19. doi: 10.1152/ajpcell.00498.2018

PMCID:: PMC6766617

Abstract Article

Select item 674379518.

Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons

Naila Haq, Christoph Schmidt-Hieber, Fernando J. Sialana, Lorenza Ciani, Janosch P. Heller, Michelle Stewart, Liz Bentley, Sara Wells, Richard J. Rodenburg, Patrick M. Nolan, Elizabeth Forsythe, Michael C. Wu, Gert Lubec, P. Salinas, Michael Häusser, Philip L. Beales, Sofia Christou-Savina

PLoS Biol. 2019 Sep; 17(9): e3000414. Published online 2019 Sep 3. doi: 10.1371/journal.pbio.3000414

Correction in:: PLoS Biol. 2019 Oct; 17(10): e3000520.

PMCID:: PMC6743795

Abstract Article PDF–3.1M

Select item 669281719.

The BBSome in POMC and AgRP Neurons Is Necessary for Body Weight Regulation and Sorting of Metabolic Receptors

Deng-Fu Guo, Zhihong Lin, Yuanming Wu, Charles Searby, Daniel R. Thedens, George B. Richerson, Yuriy M. Usachev, Justin L. Grobe, Val C. Sheffield, Kamal Rahmouni

Diabetes. 2019 Aug; 68(8): 1591–1603. Published online 2019 May 24. doi: 10.2337/db18-1088

PMCID:: PMC6692817

Abstract Article PDF–2.4M

Select item 643271520.

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

Cedric R. Uytingco, Corey L. Williams, Chao Xie, Dana T. Shively, Warren W. Green, Kirill Ukhanov, Lian Zhang, Darryl Y. Nishimura, Val C. Sheffield, Jeffrey R. Martens

J Cell Sci. 2019 Mar 1; 132(5): jcs222331. Published online 2019 Feb 15. doi: 10.1242/jcs.222331

PMCID:: PMC6432715

Abstract Article

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