PMC Links for OMIM (Select 606351) - PMC - NCBI

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Items: 7

Select item 62328561.

Inframe deletion of human ESPN is associated with deafness, vestibulopathy and vision impairment

Zubair M Ahmed, Thomas J Jaworek, Gowri N Sarangdhar, Lili Zheng, Khitab Gul, Shaheen N Khan, Thomas B Friedman, Robert A Sisk, James R Bartles, Sheikh Riazuddin, Saima Riazuddin

J Med Genet. Author manuscript; available in PMC 2019 Jul 1.

Published in final edited form as: J Med Genet. 2018 Jul; 55(7): 479–488. Published online 2018 Mar 23. doi: 10.1136/jmedgenet-2017-105221

PMCID:: PMC6232856

Abstract Article PDF–1.1M

Select item 47735172.

Stereocilia-staircase spacing is influenced by myosin III motors and their cargos espin-1 and espin-like

Seham Ebrahim, Matthew R. Avenarius, M’hamed Grati, Jocelyn F. Krey, Alanna M. Windsor, Aurea D. Sousa, Angela Ballesteros, Runjia Cui, Bryan A. Millis, Felipe T. Salles, Michelle A. Baird, Michael W. Davidson, Sherri M. Jones, Dongseok Choi, Lijin Dong, Manmeet H. Raval, Christopher M. Yengo, Peter G. Barr-Gillespie, Bechara Kachar

Nat Commun. 2016; 7: 10833. Published online 2016 Mar 1. doi: 10.1038/ncomms10833

Correction in:: Nat Commun. 2017; 8: 16133.

PMCID:: PMC4773517

Abstract Article PDF–8.2M

Select item 28500543.

The Deaf Jerker Mouse Has a Mutation in the Gene Encoding the Espin Actin-Bundling Proteins of Hair Cell Stereocilia and Fails to Accumulate Espins

Lili Zheng, Gabriela Sekerková, Kelly Vranich, Lewis G. Tilney, Enrico Mugnaini, James R. Bartles

Cell. Author manuscript; available in PMC 2010 Apr 6.

Published in final edited form as: Cell. 2000 Aug 4; 102(3): 377–385. doi: 10.1016/s0092-8674(00)00042-8

PMCID:: PMC2850054

Abstract Article PDF–1.0M

Select item 25646364.

Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation

F Donaudy, L Zheng, R Ficarella, E Ballana, M Carella, S Melchionda, X Estivill, J R Bartles, P Gasparini

J Med Genet. 2006 Feb; 43(2): 157–161. doi: 10.1136/jmg.2005.032086

PMCID:: PMC2564636

Abstract Article PDF–2.9M

Select item 21328245.

Small Espin: A Third Actin-bundling Protein and Potential Forked Protein Ortholog in Brush Border Microvilli

James R. Bartles, Lili Zheng, Anli Li, Allison Wierda, Bin Chen

J Cell Biol. 1998 Oct 5; 143(1): 107–119. doi: 10.1083/jcb.143.1.107

PMCID:: PMC2132824

Abstract Article PDF–685K

Select item 17358556.

Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction

S Naz, A Griffith, S Riazuddin, L Hampton, J Battey, S Khan, S Riazuddin, E Wilcox, T Friedman

J Med Genet. 2004 Aug; 41(8): 591–595. doi: 10.1136/jmg.2004.018523

PMCID:: PMC1735855

Summary PDF–662K

Select item 257617.

Espin Contains an Additional Actin-binding Site in Its N Terminus and Is a Major Actin-bundling Protein of the Sertoli Cell–Spermatid Ectoplasmic Specialization Junctional Plaque

Bin Chen, Anli Li, Dennis Wang, Min Wang, Lili Zheng, James R. Bartles

Mol Biol Cell. 1999 Dec; 10(12): 4327–4339. doi: 10.1091/mbc.10.12.4327

PMCID:: PMC25761

Abstract Article PDF–1002K

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