PMC Links for Nucleotide (Select 190014628) - PMC

Select item 63177151.

GRXCR2 Regulates Taperin Localization Critical for Stereocilia Morphology and Hearing

Chang Liu, Na Luo, Chun-Yu Tung, Benjamin J. Perrin, Bo Zhao

Cell Rep. Author manuscript; available in PMC 2019 Jan 3.

Published in final edited form as: Cell Rep. 2018 Oct 30; 25(5): 1268–1280.e4. doi: 10.1016/j.celrep.2018.09.063

PMCID:: PMC6317715

Abstract Article PDF–1.8M

Select item 55032612.

Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program

John P. Sundberg, Soheil S. Dadras, Kathleen A. Silva, Victoria E. Kennedy, Gaven Garland, Stephen A. Murray, Beth A. Sundberg, Paul N. Schofield, C. Herbert Pratt

PLoS One. 2017; 12(7): e0180682. Published online 2017 Jul 10. doi: 10.1371/journal.pone.0180682

PMCID:: PMC5503261

Abstract Article PDF–31M

Select item 52958213.

High-throughput discovery of novel developmental phenotypes

Mary E. Dickinson, Ann M. Flenniken, Xiao Ji, Lydia Teboul, Michael D. Wong, Jacqueline K. White, Terrence F. Meehan, Wolfgang J. Weninger, Henrik Westerberg, Hibret Adissu, Candice N. Baker, Lynette Bower, James M. Brown, L. Brianna Caddle, Francesco Chiani, Dave Clary, James Cleak, Mark J. Daly, James M. Denegre, Brendan Doe, Mary E. Dolan, Sarah M. Edie, Helmut Fuchs, Valerie Gailus-Durner, Antonella Galli, Alessia Gambadoro, Juan Gallegos, Shiying Guo, Neil R. Horner, Chih-wei Hsu, Sara J. Johnson, Sowmya Kalaga, Lance C. Keith, Louise Lanoue, Thomas N. Lawson, Monkol Lek, Manuel Mark, Susan Marschall, Jeremy Mason, Melissa L. McElwee, Susan Newbigging, Lauryl M.J. Nutter, Kevin A. Peterson, Ramiro Ramirez-Solis, Douglas J. Rowland, Edward Ryder, Kaitlin E. Samocha, John R. Seavitt, Mohammed Selloum, Zsombor Szoke-Kovacs, Masaru Tamura, Amanda G Trainor, Ilinca Tudose, Shigeharu Wakana, Jonathan Warren, Olivia Wendling, David B. West, Leeyean Wong, Atsushi Yoshiki, The International Mouse Phenotyping Consortium, Daniel G. MacArthur, Glauco P. Tocchini-Valentini, Xiang Gao, Paul Flicek, Allan Bradley, William C. Skarnes, Monica J. Justice, Helen E. Parkinson, Mark Moore, Sara Wells, Robert E. Braun, Karen L. Svenson, Martin Hrabe de Angelis, Yann Herault, Tim Mohun, Ann-Marie Mallon, R. Mark Henkelman, Steve D.M. Brown, David J. Adams, K.C. Kent Lloyd, Colin McKerlie, Arthur L. Beaudet, Maja Bucan, Stephen A. Murray

Nature. Author manuscript; available in PMC 2017 Mar 14.

Published in final edited form as: Nature. 2016 Sep 22; 537(7621): 508–514. Published online 2016 Sep 14. doi: 10.1038/nature19356

Correction in:: Nature. 2017 Nov 16; 551(7680): 398.

PMCID:: PMC5295821

Abstract Article PDF–3.0M

Select item 48989304.

Murine Fam65b forms ring-like structures at the base of stereocilia critical for mechanosensory hair cell function

Bo Zhao, Zizhen Wu, Ulrich Müller

eLife. 2016; 5: e14222. Published online 2016 Jun 8. doi: 10.7554/eLife.14222

PMCID:: PMC4898930

Abstract Article PDF–8.6M

Select item 39649555.

The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data

Gautier Koscielny, Gagarine Yaikhom, Vivek Iyer, Terrence F. Meehan, Hugh Morgan, Julian Atienza-Herrero, Andrew Blake, Chao-Kung Chen, Richard Easty, Armida Di Fenza, Tanja Fiegel, Mark Grifiths, Alan Horne, Natasha A. Karp, Natalja Kurbatova, Jeremy C. Mason, Peter Matthews, Darren J. Oakley, Asfand Qazi, Jack Regnart, Ahmad Retha, Luis A. Santos, Duncan J. Sneddon, Jonathan Warren, Henrik Westerberg, Robert J. Wilson, David G. Melvin, Damian Smedley, Steve D. M. Brown, Paul Flicek, William C. Skarnes, Ann-Marie Mallon, Helen Parkinson

Nucleic Acids Res. 2014 Jan 1; 42(Database issue): D802–D809. Published online 2013 Nov 3. doi: 10.1093/nar/gkt977

PMCID:: PMC3964955

Abstract Article PDF–5.7M

Select item 28333916.

Targeted Capture and Next-Generation Sequencing Identifies C9orf75, Encoding Taperin, as the Mutated Gene in Nonsyndromic Deafness DFNB79

Atteeq Ur Rehman, Robert J. Morell, Inna A. Belyantseva, Shahid Y. Khan, Erich T. Boger, Mohsin Shahzad, Zubair M. Ahmed, Saima Riazuddin, Shaheen N. Khan, Sheikh Riazuddin, Thomas B. Friedman

Am J Hum Genet. 2010 Mar 12; 86(3): 378–388. doi: 10.1016/j.ajhg.2010.01.030

PMCID:: PMC2833391

Abstract Article PDF–1.2M

Select item 28333767.

Mutations in TPRN Cause a Progressive Form of Autosomal-Recessive Nonsyndromic Hearing Loss

Yun Li, Esther Pohl, Redouane Boulouiz, Margit Schraders, Gudrun Nürnberg, Majida Charif, Ronald J.C. Admiraal, Simon von Ameln, Ingelore Baessmann, Mostafa Kandil, Joris A. Veltman, Peter Nürnberg, Christian Kubisch, Abdelhamid Barakat, Hannie Kremer, Bernd Wollnik

Am J Hum Genet. 2010 Mar 12; 86(3): 479–484. doi: 10.1016/j.ajhg.2010.02.003

PMCID:: PMC2833376

Abstract Article PDF–730K

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