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Select item 112253601.

Pleiotropic brain function of whirlin identified by a novel mutation

Carlos Aguilar, Debbie Williams, Ramakrishna Kurapati, Rasneer S. Bains, Philomena Mburu, Andy Parker, Jackie Williams, Danilo Concas, Hilda Tateossian, Andrew R. Haynes, Gareth Banks, Pratik Vikhe, Ines Heise, Marie Hutchison, Gemma Atkins, Simon Gillard, Becky Starbuck, Simona Oliveri, Andrew Blake, Siddharth Sethi, Saumya Kumar, Tanaya Bardhan, Jing-Yi Jeng, Stuart L. Johnson, Lara F. Corns, Walter Marcotti, Michelle Simon, Sara Wells, Paul K. Potter, Heena V. Lad

iScience. 2024 Jul 19; 27(7): 110170. Published online 2024 Jun 4. doi: 10.1016/j.isci.2024.110170

PMCID:: PMC11225360

Abstract Article PDF–5.3M

Select item 109176602.

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 102381973.

Deafness‐Associated ADGRV1 Mutation Impairs USH2A Stability through Improper Phosphorylation of WHRN and WDSUB1 Recruitment

Ying Guan, Hai‐Bo Du, Zhao Yang, Yu‐Zhu Wang, Rui Ren, Wen‐Wen Liu, Chao Zhang, Jia‐Hai Zhang, Wen‐Tao An, Na‐Na Li, Xiao‐Xue Zeng, Jie Li, Yi‐Xiao Sun, Yan‐Fei Wang, Fan Yang, Jun Yang, Wei Xiong, Xiao Yu, Ren‐Jie Chai, Xiao‐Ming Tu, Jin‐Peng Sun, Zhi‐Gang Xu

Adv Sci (Weinh) 2023 Jun; 10(16): 2205993. Published online 2023 Apr 17. doi: 10.1002/advs.202205993

PMCID:: PMC10238197

Abstract Article PDF–7.8M

Select item 95814784.

RGS12 polarizes the GPSM2-GNAI complex to organize and elongate stereocilia in sensory hair cells

Anil Akturk, Matthew Day, Basile Tarchini

Sci Adv. 2022 Oct; 8(42): eabq2826. Published online 2022 Oct 19. doi: 10.1126/sciadv.abq2826

PMCID:: PMC9581478

Abstract Article PDF–4.3M

Select item 75321785.

Interaction of protocadherin-15 with the scaffold protein whirlin supports its anchoring of hair-bundle lateral links in cochlear hair cells

Vincent Michel, Elise Pepermans, Jacques Boutet de Monvel, Patrick England, Sylvie Nouaille, Alain Aghaie, Florent Delhommel, Nicolas Wolff, Isabelle Perfettini, Jean-Pierre Hardelin, Christine Petit, Amel Bahloul

Sci Rep. 2020; 10: 16430. Published online 2020 Oct 2. doi: 10.1038/s41598-020-73158-1

PMCID:: PMC7532178

Abstract Article PDF–1.8M

Select item 72270286.

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 68139287.

Impact of Auditory Experience on the Structural Plasticity of the AIS in the Mouse Brainstem Throughout the Lifespan

Eun Jung Kim, Chenling Feng, Fidel Santamaria, Jun Hee Kim

Front Cell Neurosci. 2019; 13: 456. Published online 2019 Oct 15. doi: 10.3389/fncel.2019.00456

PMCID:: PMC6813928

Abstract Article PDF–3.4M

Select item 67286048.

Clarin‐2 is essential for hearing by maintaining stereocilia integrity and function

Lucy A Dunbar, Pranav Patni, Carlos Aguilar, Philomena Mburu, Laura Corns, Helena RR Wells, Sedigheh Delmaghani, Andrew Parker, Stuart Johnson, Debbie Williams, Christopher T Esapa, Michelle M Simon, Lauren Chessum, Sherylanne Newton, Joanne Dorning, Prashanthini Jeyarajan, Susan Morse, Andrea Lelli, Gemma F Codner, Thibault Peineau, Suhasini R Gopal, Kumar N Alagramam, Ronna Hertzano, Didier Dulon, Sara Wells, Frances M Williams, Christine Petit, Sally J Dawson, Steve DM Brown, Walter Marcotti, Aziz El‐Amraoui, Michael R Bowl

EMBO Mol Med. 2019 Sep; 11(9): e10288. Published online 2019 Aug 26. doi: 10.15252/emmm.201910288

PMCID:: PMC6728604

Abstract Article PDF–10M

Select item 66724409.

Molecular Characterization of the Ankle-Link Complex in Cochlear Hair Cells and Its Role in the Hair Bundle Functioning

Nicolas Michalski, Vincent Michel, Amel Bahloul, Gaëlle Lefèvre, Jérémie Barral, Hideshi Yagi, Sébastien Chardenoux, Dominique Weil, Pascal Martin, Jean-Pierre Hardelin, Makoto Sato, Christine Petit

J Neurosci. 2007 Jun 13; 27(24): 6478–6488. doi: 10.1523/JNEUROSCI.0342-07.2007

PMCID:: PMC6672440

Abstract Article PDF–1.0M

Select item 651653010.

GPSM2-GNAI specifies the tallest stereocilia and defines hair bundle row identity

Abigail L.D. Tadenev, Anil Akturk, Nicholas Devanney, Pranav Dinesh Mathur, Anna M. Clark, Jun Yang, Basile Tarchini

Curr Biol. Author manuscript; available in PMC 2020 Mar 18.

Published in final edited form as: Curr Biol. 2019 Mar 18; 29(6): 921–934.e4. Published online 2019 Feb 28. doi: 10.1016/j.cub.2019.01.051

PMCID:: PMC6516530

Abstract Article PDF–2.2M

Select item 645951011.

Mouse screen reveals multiple new genes underlying mouse and human hearing loss

Neil J. Ingham, Selina A. Pearson, Valerie E. Vancollie, Victoria Rook, Morag A. Lewis, Jing Chen, Annalisa Buniello, Elisa Martelletti, Lorenzo Preite, Chi Chung Lam, Felix D. Weiss, Zӧe Powis, Pim Suwannarat, Christopher J. Lelliott, Sally J. Dawson, Jacqueline K. White, Karen P. Steel

PLoS Biol. 2019 Apr; 17(4): e3000194. Published online 2019 Apr 11. doi: 10.1371/journal.pbio.3000194

PMCID:: PMC6459510

Abstract Article PDF–5.1M

Select item 634267712.

Ablation of Cytoskeletal Scaffolding Proteins, Band 4.1B and Whirlin, Leads to Cerebellar Purkinje Axon Pathology and Motor Dysfunction

Julia Saifetiarova, Manzoor A. Bhat

J Neurosci Res. Author manuscript; available in PMC 2019 Sep 1.

Published in final edited form as: J Neurosci Res. 2019 Mar; 97(3): 313–331. Published online 2018 Nov 17. doi: 10.1002/jnr.24352

PMCID:: PMC6342677

Abstract Article PDF–3.3M

Select item 607560213.

The roles of USH1 proteins and PDZ domain-containing USH proteins in USH2 complex integrity in cochlear hair cells

Junhuang Zou, Qian Chen, Ali Almishaal, Pranav Dinesh Mathur, Tihua Zheng, Cong Tian, Qing Y. Zheng, Jun Yang

Hum Mol Genet. 2017 Feb 1; 26(3): 624–636. Published online 2016 Dec 28. doi: 10.1093/hmg/ddw421

PMCID:: PMC6075602

Abstract Article PDF–1.7M

Select item 556421914.

WHIRLIN INCREASES TRPV1 CHANNEL EXPRESSION AND CELLULAR STABILITY

Maria Grazia Ciardo, Amparo Andrés-Bordería, Natalia Cuesta, Pierluigi Valente, María Camprubí-Robles, Jun Yang, Rosa Planells-Cases, Antonio Ferrer-Montiel

Biochim Biophys Acta. Author manuscript; available in PMC 2017 Aug 21.

Published in final edited form as: Biochim Biophys Acta. 2016 Jan; 1863(1): 115–127. Published online 2015 Oct 26. doi: 10.1016/j.bbamcr.2015.10.016

PMCID:: PMC5564219

Abstract Article PDF–819K

Select item 549152315.

CIB2 interacts with TMC1 and TMC2 and is essential for mechanotransduction in auditory hair cells

Arnaud P. J. Giese, Yi-Quan Tang, Ghanshyam P. Sinha, Michael R. Bowl, Adam C. Goldring, Andrew Parker, Mary J. Freeman, Steve D. M. Brown, Saima Riazuddin, Robert Fettiplace, William R. Schafer, Gregory I. Frolenkov, Zubair M. Ahmed

Nat Commun. 2017; 8: 43. Published online 2017 Jun 29. doi: 10.1038/s41467-017-00061-1

PMCID:: PMC5491523

Abstract Article PDF–7.7M

Select item 538560416.

Defective Gpsm2/Gα_i3 signalling disrupts stereocilia development and growth cone actin dynamics in Chudley-McCullough syndrome

Stephanie A. Mauriac, Yeri E. Hien, Jonathan E. Bird, Steve Dos-Santos Carvalho, Ronan Peyroutou, Sze Chim Lee, Maite M. Moreau, Jean-Michel Blanc, Aysegul Gezer, Chantal Medina, Olivier Thoumine, Sandra Beer-Hammer, Thomas B. Friedman, Lukas Rüttiger, Andrew Forge, Bernd Nürnberg, Nathalie Sans, Mireille Montcouquiol

Nat Commun. 2017; 8: 14907. Published online 2017 Apr 7. doi: 10.1038/ncomms14907

Correction in:: Nat Commun. 2018; 9: 16188.

PMCID:: PMC5385604

Abstract Article PDF–5.7M

Select item 499213817.

Novel gene function revealed by mouse mutagenesis screens for models of age-related disease

Paul K. Potter, Michael R. Bowl, Prashanthini Jeyarajan, Laura Wisby, Andrew Blease, Michelle E. Goldsworthy, Michelle M. Simon, Simon Greenaway, Vincent Michel, Alun Barnard, Carlos Aguilar, Thomas Agnew, Gareth Banks, Andrew Blake, Lauren Chessum, Joanne Dorning, Sara Falcone, Laurence Goosey, Shelley Harris, Andy Haynes, Ines Heise, Rosie Hillier, Tertius Hough, Angela Hoslin, Marie Hutchison, Ruairidh King, Saumya Kumar, Heena V. Lad, Gemma Law, Robert E. MacLaren, Susan Morse, Thomas Nicol, Andrew Parker, Karen Pickford, Siddharth Sethi, Becky Starbuck, Femke Stelma, Michael Cheeseman, Sally H. Cross, Russell G. Foster, Ian J. Jackson, Stuart N. Peirson, Rajesh V. Thakker, Tonia Vincent, Cheryl Scudamore, Sara Wells, Aziz El-Amraoui, Christine Petit, Abraham Acevedo-Arozena, Patrick M. Nolan, Roger Cox, Anne-Marie Mallon, Steve D. M. Brown

Nat Commun. 2016; 7: 12444. Published online 2016 Aug 18. doi: 10.1038/ncomms12444

PMCID:: PMC4992138

Abstract Article PDF–2.2M

Select item 485983718.

Alternative Splice Forms Influence Functions of Whirlin in Mechanosensory Hair Cell Stereocilia

Seham Ebrahim, Neil J. Ingham, Morag A. Lewis, Michael J.C. Rogers, Runjia Cui, Bechara Kachar, Johanna C. Pass, Karen P. Steel

Cell Rep. 2016 May 3; 15(5): 935–943. Published online 2016 Apr 21. doi: 10.1016/j.celrep.2016.03.081

PMCID:: PMC4859837

Abstract Article PDF–3.5M

Select item 465405619.

A study of whirlin isoforms in the mouse vestibular system suggests potential vestibular dysfunction in DFNB31-deficient patients

Pranav Dinesh Mathur, Sarath Vijayakumar, Deepti Vashist, Sherri M. Jones, Timothy A. Jones, Jun Yang

Hum Mol Genet. 2015 Dec 15; 24(24): 7017–7030. Published online 2015 Sep 29. doi: 10.1093/hmg/ddv403

PMCID:: PMC4654056

Abstract Article PDF–1.6M

Select item 465405120.

Individual USH2 proteins make distinct contributions to the ankle link complex during development of the mouse cochlear stereociliary bundle

Junhuang Zou, Pranav D. Mathur, Tihua Zheng, Yong Wang, Ali Almishaal, Albert H. Park, Jun Yang

Hum Mol Genet. 2015 Dec 15; 24(24): 6944–6957. Published online 2015 Sep 23. doi: 10.1093/hmg/ddv398

PMCID:: PMC4654051

Abstract Article PDF–1.6M

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