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Espin, ESPN, DFNB36
This gene encodes a multifunctional actin-bundling protein. It plays a major role in regulating the organization, dimensions, dynamics, and signaling capacities of the actin filament-rich, microvillus-type specializations that mediate sensory transduction in various mechanosensory and chemosensory cells. Mutations in this gene are associated with autosomal recessive neurosensory deafness, and autosomal dominant sensorineural deafness without vestibular involvement. [provided by RefSeq, Nov 2009] (from NCBI)
Top mentioned proteins: Actin, HAIR, CAN, VGLUT1, FSCN2
Papers on Espin
Myosin III-mediated cross-linking and stimulation of actin bundling activity of Espin.
Zhang et al., Shenzhen, China. In Elife, Feb 2016
UNASSIGNED: Class III myosins (Myo3) and actin-bundling protein Espin play critical roles in regulating the development and maintenance of stereocilia in vertebrate hair cells, and their defects cause hereditary hearing impairments.
Perception, diagnosis and management of BK polyomavirus replication and disease in paediatric kidney transplant recipients in Europe.
Members of the Working Group ‘Transplantation’ of the European Society for Paediatric Nephrology et al., Basel, Switzerland. In Nephrol Dial Transplant, Dec 2015
METHODS: We investigated current practice through a web-based questionnaire made available by the European Society for Paediatric Nephrology (ESPN).
Molecular Distribution of Deafness Loci in Various Ethnic Groups of the Punjab, Pakistan.
Rasheed et al., Lahore, Pakistan. In J Coll Physicians Surg Pak, Aug 2015
Three families (SAPun-03, SAPun-10 and SAPun-15) were found linked to DFNB12; two families (SAPun-05 and SAPun-17) were found linked to DFNB8/10, while three families (SAPun-06, SAPun-13 and SAPun-19) were found linked to DFNB29, DFNB36 and DFNB37 respectively.
[Study on the induced differentiation of induced pluripotent stem cells into cochlear hair cell-like cells and spiral ganglion neuron-like cells in vitro].
Jiang et al., Nanchang, China. In Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi, 2014
The expressions of hair cell markers (Myosin VIIa, Math1, Calretinin, Espin) and Spiral ganglion neuron markers [Nestin, Neurofilament-M, β-III Tubulin, Vesicular glutamate transporter 1(VGluT1)] were detected by immunocytochemical analysis.
Actin-binding protein, Espin: a novel metastatic regulator for melanoma.
Kato et al., Nagoya, Japan. In Mol Cancer Res, 2014
UNLABELLED: Espin is a multifunctional actin-bundling protein with multiple isoforms, and has special connections to hair cell stereocilia and microvillar specializations of sensory cells in the inner ear.
Retinoic acid signalling regulates the development of tonotopically patterned hair cells in the chicken cochlea.
Corwin et al., Charlottesville, United States. In Nat Commun, 2013
In vitro experiments showed that RA is necessary and sufficient to induce the development of distal-like hair cell phenotypes and promotes expression of the actin-crosslinking proteins, Espin and Fscn2.
Interprofessional leadership training in MCH social work.
Vanidestine et al., Baltimore, United States. In Soc Work Health Care, 2012
Although most health social workers have exposure to multidisciplinary practice within their field work, few social work education programs incorporate interprofessional learning as an integrated component of both course work and field experiences (McPherson, Headrick, & Moss, 2001; Reeves, Lewin, Espin, & Zwaranstein, 2010; Weinstein, Whittington, & Leiba, 2003).
Competition and compensation: dissecting the biophysical and functional differences between the class 3 myosin paralogs, myosins 3a and 3b.
Gov et al., Bethesda, United States. In Bioarchitecture, 2012
In our recent paper, we show that two paralogous class 3 myosins--Myo3a and Myo3b--both transport the actin-regulatory protein Espin 1 (Esp1) to stereocilia and filopodia tips in a remarkably similar, albeit non-identical fashion.
Myosin IIIB uses an actin-binding motif in its espin-1 cargo to reach the tips of actin protrusions.
Kachar et al., Bethesda, United States. In Curr Biol, 2012
When myosin IIIB (MYO3B) is coexpressed with espin-1 (ESPN1), MYO3B targets and carries ESPN1 to COS7 cell filopodia tips. This tip localization is lost when the ESPN1 C terminus actin-binding site is removed.
A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31-p36.13.
Leal et al., Islamabad, Pakistan. In J Hum Genet, 2011
Of the 125 genes within the DFNB96 interval, the previously identified ARNSHI gene for DFNB36, ESPN, and two genes that cause Bartter syndrome, CLCNKA and CLCNKB, were sequenced, but no potentially causal variants were identified.
Roles of the espin actin-bundling proteins in the morphogenesis and stabilization of hair cell stereocilia revealed in CBA/CaJ congenic jerker mice.
Bartles et al., Chicago, United States. In Plos Genet, 2011
espin actin-bundling proteins are required for the assembly and stabilization of the stereociliary parallel actin bundle.
Selective ablation of the androgen receptor in mouse sertoli cells affects sertoli cell maturation, barrier formation and cytoskeletal development.
Verhoeven et al., Leuven, Belgium. In Plos One, 2009
Differences in the expression of SC genes known to play a role in junction formation could be shown from day 8 for Cldn11, from day 15 for Cldn3 and Espn, from day 20 for Cdh2 and Jam3 and from day 35 for ZO-1.
Myosin IIIa boosts elongation of stereocilia by transporting espin 1 to the plus ends of actin filaments.
Kachar et al., In Nat Cell Biol, 2009
This study provides the basis for understanding the role of myosin IIIa and espin 1 in regulating stereocilia length.
RAB13 participates in ectoplasmic specialization dynamics in the rat testis.
Lau et al., New York City, United States. In Biol Reprod, 2009
Moreover, RAB13 was found to associate with vinculin (VCL) and espin (ESPN), two putative ectoplasmic specialization actin (ACT)-binding proteins, by coimmunoprecipitation and immunofluorescence microscopy experiments.
A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family.
Barakat et al., Casablanca, Morocco. In Am J Med Genet A, 2009
A recessive ESPN mutation causing congenital hearing loss in a Morocan family was reported.
Unique transgenic animal model for hereditary hearing loss.
Hannan et al., New York City, United States. In Ann Otol Rhinol Laryngol, 2008
Flies with mutations affecting the diaphanous,forked, and CG12026/TMHS genes displayed significant reductions in the amplitude of sound-evoked potentials compared to wild-type flies
Derivation of cochlea hair cell for in vitro expansion and characterization.
Lokman et al., Malaysia. In Med J Malaysia, 2008
The cultured cells were immunopositive for specific hair cell markers including Myosin 7a, Calretinin and Espin.
[Comparison study of hair cell markers in chicken inner ear].
Li et al., Shanghai, China. In Lin Chuang Er Bi Yan Hou Ke Za Zhi, 2006
The position and intensity of Hair Cell Antigen, Espin, and Myosin7a expression were detected by indirect immunocytochemistry.
Book reviews.
In J Lesbian Stud, 2000
Espin, Oliva M. Reviewed by Susan Nicastro and Mary Ballou.
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