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Search results 1 to 100 out of 171 for Espn

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Type Details Score
Gene
Type: gene
Organism: human
Gene
Type: gene
Organism: chimpanzee
Gene
Type: gene
Organism: chicken
Gene
Type: gene
Organism: zebrafish
Gene
Type: gene
Organism: macaque, rhesus
Gene
Type: gene
Organism: frog, western clawed
Gene
Type: gene
Organism: cattle
Gene
Type: gene
Organism: rat
Gene
Type: gene
Organism: dog, domestic
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Domain
Type: Family
Description: Espins (Espns) are actin-bundling proteins that are enriched in hair cell stereocilia and sensory cell microvilli. Espins bind actin monomer via their WH2 domain and can assemble actin bundles in cells []. They are multifunctional actin cytoskeletal regulatory proteins that act in various mechanosensory and chemosensory cells []. Mutations in the human Espn gene cause a profound form of congenital deafness [].
Publication
First Author: Sekerková G
Year: 2004
Journal: J Neurosci
Title: Espins are multifunctional actin cytoskeletal regulatory proteins in the microvilli of chemosensory and mechanosensory cells.
Volume: 24
Issue: 23
Pages: 5445-56
Protein
Organism: Mus musculus/domesticus
Length: 111  
Fragment?: true
Publication
First Author: Donaudy F
Year: 2006
Journal: J Med Genet
Title: Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation.
Volume: 43
Issue: 2
Pages: 157-61
Publication
First Author: Sekerková G
Year: 2006
Journal: Cell Mol Life Sci
Title: Espins and the actin cytoskeleton of hair cell stereocilia and sensory cell microvilli.
Volume: 63
Issue: 19-20
Pages: 2329-41
Protein
Organism: Mus musculus/domesticus
Length: 521  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 221  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 530  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 449  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 532  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 440  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 253  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 871  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 881  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 1405  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 848  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 700  
Fragment?: true
Publication  
First Author: Ebrahim S
Year: 2016
Journal: Nat Commun
Title: Stereocilia-staircase spacing is influenced by myosin III motors and their cargos espin-1 and espin-like.
Volume: 7
Pages: 10833
Publication
First Author: Zheng L
Year: 2000
Journal: Cell
Title: The deaf jerker mouse has a mutation in the gene encoding the espin actin-bundling proteins of hair cell stereocilia and lacks espins.
Volume: 102
Issue: 3
Pages: 377-85
Publication
First Author: Sekerková G
Year: 2011
Journal: PLoS Genet
Title: Roles of the espin actin-bundling proteins in the morphogenesis and stabilization of hair cell stereocilia revealed in CBA/CaJ congenic jerker mice.
Volume: 7
Issue: 3
Pages: e1002032
Publication
First Author: Grüneberg H
Year: 1941
Journal: Proc Natl Acad Sci U S A
Title: The Origin of Jerker, a New Gene Mutation of the House Mouse, and Linkage Studies Made with It.
Volume: 27
Issue: 12
Pages: 562-5
Publication
First Author: Steel KP
Year: 1983
Journal: Behav Neurosci
Title: Cochlear dysfunction in the jerker mouse.
Volume: 97
Issue: 3
Pages: 381-91
Publication  
First Author: Sjöström B
Year: 1992
Journal: Acta Otolaryngol Suppl
Title: Genetically induced inner ear degeneration. A structural and functional study.
Volume: 493
Pages: 141-6
Publication
First Author: Sjöström B
Year: 1992
Journal: ORL J Otorhinolaryngol Relat Spec
Title: Cochlear structure and function in a recessive type of genetically induced inner ear degeneration.
Volume: 54
Issue: 4
Pages: 220-8
Publication
First Author: Sekerková G
Year: 2006
Journal: Dev Biol
Title: Differential expression of espin isoforms during epithelial morphogenesis, stereociliogenesis and postnatal maturation in the developing inner ear.
Volume: 291
Issue: 1
Pages: 83-95
Publication      
First Author: Sjostrom B
Year: 1994
Title: Cochlear and vestibular pathology of the jerker mouse mutant. An animal model for recessive deafness
Pages: 5
Publication
First Author: Rzadzinska A
Year: 2005
Journal: Cell Motil Cytoskeleton
Title: Balanced levels of Espin are critical for stereociliary growth and length maintenance.
Volume: 62
Issue: 3
Pages: 157-65
Publication
First Author: Sjöström B
Year: 1994
Journal: ORL J Otorhinolaryngol Relat Spec
Title: Cochlear synaptic development and morphology in a genetically induced type of progressive hair cell degeneration.
Volume: 56
Issue: 3
Pages: 119-24
Publication
First Author: Zerr P
Year: 2000
Journal: Neurogenetics
Title: The murine Bis1 seizure gene and the Kcnab2 gene encoding the beta2-subunit of the K+ channel are different.
Volume: 2
Issue: 4
Pages: 231-4
Publication
First Author: Jackson T
Year: 2002
Journal: Biochem Biophys Res Commun
Title: Genetic and physical maps of jerker (Espn(je)) on mouse chromosome 4.
Volume: 296
Issue: 5
Pages: 1143-7
Publication
First Author: Oberhauser AF
Year: 1996
Journal: Proc Natl Acad Sci U S A
Title: A fusion pore phenotype in mast cells of the ruby-eye mouse.
Volume: 93
Issue: 25
Pages: 14349-54
Publication  
First Author: Wallace ME
Year: 1958
Journal: Heredity
Title: New linkage and independence data for Ruby and Jerker in the mouse
Volume: 12
Pages: 453-62
Publication
First Author: Deol MS
Year: 1954
Journal: J Genet
Title: The anomalies of the labyrinth of the mutants varitint-waddler, shaker-2 and jerker in the mouse.
Volume: 52
Issue: 3
Pages: 562-588
Publication
First Author: Kim HJ
Year: 2003
Journal: J Assoc Res Otolaryngol
Title: Genetic analyses of the mouse deafness mutations varitint-waddler (Va) and jerker (Espnje).
Volume: 4
Issue: 1
Pages: 83-90
Publication
First Author: van Abeelen JH
Year: 1966
Journal: Genetica
Title: Behavioural profiles of neurological mutant mice.
Volume: 37
Issue: 2
Pages: 149-58
Publication
First Author: Revenu C
Year: 2012
Journal: Mol Biol Cell
Title: A new role for the architecture of microvillar actin bundles in apical retention of membrane proteins.
Volume: 23
Issue: 2
Pages: 324-36
Publication
First Author: Cabraja M
Year: 2007
Journal: J Comp Neurol
Title: Vestibular ganglion neurons survive hair cell defects in jerker, shaker, and Varitint-waddler mutants and downregulate calretinin expression.
Volume: 504
Issue: 4
Pages: 418-26
Publication  
First Author: KOCHER W
Year: 1960
Journal: Z Vererbungsl
Title: [Studies on the genetics and pathology of the development of 8 labyrinth mutants (deaf-waltzer-shaker mutants) in the mouse (Mus musculus)].
Volume: 91
Pages: 114-40
Publication
First Author: Calderon A
Year: 2006
Journal: Hear Res
Title: Cochlear developmental defect and background-dependent hearing thresholds in the Jackson circler (jc) mutant mouse.
Volume: 221
Issue: 1-2
Pages: 44-58
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus caroli
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus pahari
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus spretus
Publication
First Author: Chen B
Year: 1999
Journal: Mol Biol Cell
Title: 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.
Volume: 10
Issue: 12
Pages: 4327-39
Publication
First Author: Loomis PA
Year: 2006
Journal: J Cell Sci
Title: Targeted wild-type and jerker espins reveal a novel, WH2-domain-dependent way to make actin bundles in cells.
Volume: 119
Issue: Pt 8
Pages: 1655-65
Publication
First Author: Rzadzinska AK
Year: 2004
Journal: J Cell Biol
Title: An actin molecular treadmill and myosins maintain stereocilia functional architecture and self-renewal.
Volume: 164
Issue: 6
Pages: 887-97
Publication
First Author: Martinotti A
Year: 1992
Journal: Hum Mol Genet
Title: Isolation and mapping to 17p12-13 of the human homologous of the murine growth arrest specific Gas-3 gene.
Volume: 1
Issue: 5
Pages: 331-4
Publication
First Author: Truett GE
Year: 1996
Journal: Mamm Genome
Title: A rat homolog of the mouse deafness mutant jerker (je).
Volume: 7
Issue: 5
Pages: 356-8
GXD Expression    
Probe: MGI:7486089
Assay Type: RT-PCR
Annotation Date: 2023-06-01
Strength: Present
Sex: Female
Emaps: EMAPS:1796228
Stage: TS28
Assay Id: MGI:7486187
Age: postnatal week 4
Image: S3
Specimen Label: XX wt
Detected: true
Specimen Num: 1
GXD Expression    
Probe: MGI:7486089
Assay Type: RT-PCR
Annotation Date: 2023-06-01
Strength: Present
Sex: Male
Emaps: EMAPS:1797228
Stage: TS28
Assay Id: MGI:7486187
Age: postnatal week 4
Image: S3
Specimen Label: XY wt
Detected: true
Specimen Num: 2
GXD Expression
Probe: MGI:3623765
Assay Type: Immunohistochemistry
Annotation Date: 2006-06-02
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1619417
Pattern: Not Specified
Stage: TS17
Assay Id: MGI:3623768
Age: embryonic day 10.5
Image: 1K
Note: Expression is present in the otic pit, the otocyst, the developing membranous labyrinth (including endoymphatic duct, vertical canal pouch, anterior and posterior semicircular canal), and the clefts between branchial arches.
Specimen Label: 1K
Detected: true
Specimen Num: 1
GXD Expression  
Probe: MGI:3623765
Assay Type: Immunohistochemistry
Annotation Date: 2006-06-02
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1619417
Stage: TS17
Assay Id: MGI:3623768
Age: embryonic day 10.5
Image: 1L
Note: Unlike in the heterozygote, there is no expression in the otic pit, the otocyst, the developing membranous labyrinth (including endoymphatic duct, vertical canal pouch, anterior and posterior semicircular canal), or in the clefts between branchial arches.
Specimen Label: 1L
Detected: false
Specimen Num: 2
GXD Expression
Probe: MGI:5641636
Assay Type: Immunohistochemistry
Annotation Date: 2015-06-23
Strength: Present
Sex: Male
Emaps: EMAPS:3147628
Pattern: Regionally restricted
Stage: TS28
Assay Id: MGI:5641642
Age: postnatal
Image: 6c +/+
Note: Expression in apical ectoplasmic specialization junctional complex between Sertolic cells and spermatids.
Specimen Label: 6c +/+
Detected: true
Specimen Num: 1
GXD Expression
Probe: MGI:5641636
Assay Type: Immunohistochemistry
Annotation Date: 2015-06-23
Strength: Present
Sex: Male
Emaps: EMAPS:3147628
Pattern: Regionally restricted
Stage: TS28
Assay Id: MGI:5641642
Age: postnatal
Image: 6c 1H/1H
Note: Authors report a reduction in apical ectoplasmic specializations.
Specimen Label: 6c 1H/1H
Detected: true
Specimen Num: 2
GXD Expression
Probe: MGI:6414639
Assay Type: Immunohistochemistry
Annotation Date: 2020-05-05
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1906128
Pattern: Regionally restricted
Stage: TS28
Assay Id: MGI:6414902
Age: postnatal day 22
Image: 9B normal
Note: Expression is seen in stereocilia of hair bundles.
Specimen Label: 9B normal
Detected: true
Specimen Num: 1
GXD Expression
Probe: MGI:6414639
Assay Type: Immunohistochemistry
Annotation Date: 2020-05-05
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1906128
Pattern: Regionally restricted
Stage: TS28
Assay Id: MGI:6414902
Age: postnatal day 22
Image: 9B affected
Note: Expression is seen in stereocilia of hair bundles. Although the these bundles are morphologically abnormal, their staining is an intense as that seen in normal animals.
Specimen Label: 9B affected
Detected: true
Specimen Num: 2
GXD Expression
Probe: MGI:3623765
Assay Type: Immunohistochemistry
Annotation Date: 2006-06-02
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1666917
Pattern: Not Specified
Stage: TS17
Assay Id: MGI:3623768
Age: embryonic day 10.5
Image: 1K
Note: Expression is present in the otic pit, the otocyst, the developing membranous labyrinth (including endoymphatic duct, vertical canal pouch, anterior and posterior semicircular canal), and the clefts between branchial arches.
Specimen Label: 1K
Detected: true
Specimen Num: 1
GXD Expression  
Probe: MGI:3623765
Assay Type: Immunohistochemistry
Annotation Date: 2006-06-02
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1666917
Stage: TS17
Assay Id: MGI:3623768
Age: embryonic day 10.5
Image: 1L
Note: Unlike in the heterozygote, there is no expression in the otic pit, the otocyst, the developing membranous labyrinth (including endoymphatic duct, vertical canal pouch, anterior and posterior semicircular canal), or in the clefts between branchial arches.
Specimen Label: 1L
Detected: false
Specimen Num: 2
GXD Expression
Probe: MGI:3623765
Assay Type: Immunohistochemistry
Annotation Date: 2006-06-02
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1699417
Pattern: Not Specified
Stage: TS17
Assay Id: MGI:3623768
Age: embryonic day 10.5
Image: 1K
Note: Expression is present in the otic pit, the otocyst, the developing membranous labyrinth (including endoymphatic duct, vertical canal pouch, anterior and posterior semicircular canal), and the clefts between branchial arches.
Specimen Label: 1K
Detected: true
Specimen Num: 1
GXD Expression  
Probe: MGI:3623765
Assay Type: Immunohistochemistry
Annotation Date: 2006-06-02
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1699417
Stage: TS17
Assay Id: MGI:3623768
Age: embryonic day 10.5
Image: 1L
Note: Unlike in the heterozygote, there is no expression in the otic pit, the otocyst, the developing membranous labyrinth (including endoymphatic duct, vertical canal pouch, anterior and posterior semicircular canal), or in the clefts between branchial arches.
Specimen Label: 1L
Detected: false
Specimen Num: 2
GXD Expression  
Probe: MGI:4939639
Assay Type: Immunohistochemistry
Annotation Date: 2011-03-07
Strength: Present
Sex: Male
Emaps: EMAPS:3576128
Pattern: Regionally restricted
Stage: TS28
Assay Id: MGI:4939807
Age: postnatal
Note: Expression is in the ectoplasmic specialization, the area where the head of the spermatid is attached to the Sertoli cell.
Specimen Label: 6C
Detected: true
Specimen Num: 1
Publication    
First Author: Bartles JR
Year: 1999
Journal: GenBank Submission
Title: Mus musculus espin mRNA, partial cds
Pages: AF134857
Publication
First Author: Leibovici M
Year: 2005
Journal: Hear Res
Title: Initial characterization of kinocilin, a protein of the hair cell kinocilium.
Volume: 203
Issue: 1-2
Pages: 144-53
Publication
First Author: Martin B
Year: 1995
Journal: J Hered
Title: Mouse chromosomes 4 and 13 are involved in beta-carboline-induced seizures.
Volume: 86
Issue: 4
Pages: 274-9
Publication
First Author: Kitajiri S
Year: 2010
Journal: Cell
Title: Actin-bundling protein TRIOBP forms resilient rootlets of hair cell stereocilia essential for hearing.
Volume: 141
Issue: 5
Pages: 786-98
Publication
First Author: Jones SM
Year: 2005
Journal: J Assoc Res Otolaryngol
Title: A quantitative survey of gravity receptor function in mutant mouse strains.
Volume: 6
Issue: 4
Pages: 297-310
Publication
First Author: Merritt RC
Year: 2012
Journal: Curr Biol
Title: Myosin IIIB uses an actin-binding motif in its espin-1 cargo to reach the tips of actin protrusions.
Volume: 22
Issue: 4
Pages: 320-5
Publication
First Author: Cryns K
Year: 2002
Journal: Genome Res
Title: Vestibular dysfunction in the epistatic circler mouse is caused by phenotypic interaction of one recessive gene and three modifier genes.
Volume: 12
Issue: 4
Pages: 613-7
Publication  
First Author: Lui NC
Year: 2017
Journal: Nat Commun
Title: Lhx1/5 control dendritogenesis and spine morphogenesis of Purkinje cells via regulation of Espin.
Volume: 8
Pages: 15079
Publication  
First Author: Holmes RS
Year: 1978
Journal: Mouse News Lett
Title: Aldehyde dehydrogenase isozymes
Volume: 59
Pages: 19
Publication
First Author: Smith LB
Year: 2012
Journal: PLoS Genet
Title: KATNAL1 regulation of sertoli cell microtubule dynamics is essential for spermiogenesis and male fertility.
Volume: 8
Issue: 5
Pages: e1002697
Publication
First Author: Steigelman KA
Year: 2011
Journal: J Neurosci
Title: Polycystin-1 is required for stereocilia structure but not for mechanotransduction in inner ear hair cells.
Volume: 31
Issue: 34
Pages: 12241-50
Publication
First Author: Holmes RS
Year: 1978
Journal: Biochem Genet
Title: Genetics and ontogeny of aldehyde dehydrogenase isozymes in the mouse: localization of Ahd-1 encoding the mitochondrial isozyme on chromosome 4.
Volume: 16
Issue: 11-12
Pages: 1207-18
Publication  
First Author: Eicher EM
Year: 1977
Journal: Mouse News Lett
Title: Linkage of Gpd-1 and of je.
Volume: 56
Pages: 42
Publication
First Author: Lyon MF
Year: 1993
Journal: Proc Natl Acad Sci U S A
Title: A gene affecting Wallerian nerve degeneration maps distally on mouse chromosome 4.
Volume: 90
Issue: 20
Pages: 9717-20