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Search results 1 to 100 out of 129 for Ush2a

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0.046s
Type Details Score
Gene
Type: gene
Organism: human
Gene
Type: gene
Organism: cattle
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: frog, western clawed
Gene
Type: gene
Organism: dog, domestic
Gene
Type: gene
Organism: chimpanzee
Gene
Type: gene
Organism: rat
Protein Domain
Type: Family
Description: Usherin (also known as USH2A) is a single-pass type I membrane protein that is involved in hearing and vision. Usherin interacts with collagen IV and fibronectin via its laminin EGF-like domains. Interaction with collagen may be required for stable integration into the basement membrane [, ].Defects in USH2A are the cause of Usher syndrome type 2A (USH2A). USH is a genetically heterogeneous condition characterised by the association of retinitis pigmentosa and sensorineural deafness []. Defects in USH2A are the cause of retinitis pigmentosa type 39 (RP39). RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field [].
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Publication
First Author: Bhattacharya G
Year: 2004
Journal: J Cell Sci
Title: A domain-specific usherin/collagen IV interaction may be required for stable integration into the basement membrane superstructure.
Volume: 117
Issue: Pt 2
Pages: 233-42
Gene
Type: gene
Organism: human
Gene
Type: gene
Organism: human
Publication
First Author: Rivolta C
Year: 2000
Journal: Am J Hum Genet
Title: Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss.
Volume: 66
Issue: 6
Pages: 1975-8
Publication
First Author: Schwaller F
Year: 2021
Journal: Nat Neurosci
Title: USH2A is a Meissner's corpuscle protein necessary for normal vibration sensing in mice and humans.
Volume: 24
Issue: 1
Pages: 74-81
Publication
First Author: Perrino PA
Year: 2020
Journal: Commun Biol
Title: Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.
Volume: 3
Issue: 1
Pages: 180
Publication
First Author: Lu B
Year: 2010
Journal: Invest Ophthalmol Vis Sci
Title: Cell transplantation to arrest early changes in an ush2a animal model.
Volume: 51
Issue: 4
Pages: 2269-76
Publication
First Author: van Wijk E
Year: 2006
Journal: Hum Mol Genet
Title: The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1.
Volume: 15
Issue: 5
Pages: 751-65
Publication
First Author: Eudy JD
Year: 1998
Journal: Science
Title: Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.
Volume: 280
Issue: 5370
Pages: 1753-7
Publication
First Author: Bhattacharya G
Year: 2005
Journal: Biochemistry
Title: Evidence for functional importance of usherin/fibronectin interactions in retinal basement membranes.
Volume: 44
Issue: 34
Pages: 11518-24
Publication
First Author: Huang D
Year: 2002
Journal: Genomics
Title: Identification of the mouse and rat orthologs of the gene mutated in Usher syndrome type IIA and the cellular source of USH2A mRNA in retina, a target tissue of the disease.
Volume: 80
Issue: 2
Pages: 195-203
Protein
Organism: Mus musculus/domesticus
Length: 214  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 760  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 5193  
Fragment?: false
Publication
First Author: Danciger JS
Year: 1999
Journal: Mamm Genome
Title: Genetic and physical maps of the mouse rd3 locus; exclusion of the ortholog of USH2A.
Volume: 10
Issue: 7
Pages: 657-61
Publication
First Author: Liu X
Year: 2007
Journal: Proc Natl Acad Sci U S A
Title: Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells.
Volume: 104
Issue: 11
Pages: 4413-8
Publication
First Author: Grati M
Year: 2012
Journal: J Neurosci
Title: Localization of PDZD7 to the stereocilia ankle-link associates this scaffolding protein with the Usher syndrome protein network.
Volume: 32
Issue: 41
Pages: 14288-93
Publication
First Author: Chen Q
Year: 2014
Journal: J Biol Chem
Title: Whirlin and PDZ domain-containing 7 (PDZD7) proteins are both required to form the quaternary protein complex associated with Usher syndrome type 2.
Volume: 289
Issue: 52
Pages: 36070-88
Publication
First Author: Maerker T
Year: 2008
Journal: Hum Mol Genet
Title: A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells.
Volume: 17
Issue: 1
Pages: 71-86
Publication
First Author: Reiners J
Year: 2005
Journal: Hum Mol Genet
Title: Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2.
Volume: 14
Issue: 24
Pages: 3933-43
Publication
First Author: Adato A
Year: 2005
Journal: Hum Mol Genet
Title: Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells.
Volume: 14
Issue: 24
Pages: 3921-32
Publication
First Author: Zou J
Year: 2011
Journal: Invest Ophthalmol Vis Sci
Title: Whirlin replacement restores the formation of the USH2 protein complex in whirlin knockout photoreceptors.
Volume: 52
Issue: 5
Pages: 2343-51
Publication
First Author: Roeseler DA
Year: 2012
Journal: PLoS One
Title: Elongation factor 1 alpha1 and genes associated with Usher syndromes are downstream targets of GBX2.
Volume: 7
Issue: 11
Pages: e47366
Publication
First Author: Reiners J
Year: 2006
Journal: Exp Eye Res
Title: Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease.
Volume: 83
Issue: 1
Pages: 97-119
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
GXD Expression      
Probe: MGI:6272745
Assay Type: RT-PCR
Annotation Date: 2019-01-09
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1619428
Stage: TS28
Assay Id: MGI:6272754
Age: postnatal day 15
Specimen Label: inner ear +
Detected: true
Specimen Num: 2
GXD Expression      
Probe: MGI:6272745
Assay Type: RT-PCR
Annotation Date: 2019-01-09
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1716828
Stage: TS28
Assay Id: MGI:6272754
Age: postnatal day 15
Specimen Label: retina +
Detected: true
Specimen Num: 4
GXD Expression      
Probe: MGI:6272745
Assay Type: RT-PCR
Annotation Date: 2019-01-09
Strength: Present
Sex: Male
Emaps: EMAPS:1797228
Stage: TS28
Assay Id: MGI:6272754
Age: postnatal day 15
Specimen Label: testis +
Detected: true
Specimen Num: 6
GXD Expression  
Probe: MGI:4425541
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1760623
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4829124
Age: embryonic day 14.5
Image: euxassay_016522_10
Specimen Label: euxassay_016522_10
Detected: true
Specimen Num: 1
GXD Expression  
Probe: MGI:4425541
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1760623
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4829124
Age: embryonic day 14.5
Image: euxassay_016522_11
Specimen Label: euxassay_016522_11
Detected: true
Specimen Num: 2
GXD Expression  
Probe: MGI:4425541
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1760623
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4829124
Age: embryonic day 14.5
Image: euxassay_016522_12
Specimen Label: euxassay_016522_12
Detected: true
Specimen Num: 3
GXD Expression  
Probe: MGI:4425541
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1760623
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4829124
Age: embryonic day 14.5
Image: euxassay_016522_13
Specimen Label: euxassay_016522_13
Detected: true
Specimen Num: 4
GXD Expression  
Probe: MGI:4425541
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1760623
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4829124
Age: embryonic day 14.5
Image: euxassay_016522_14
Specimen Label: euxassay_016522_14
Detected: true
Specimen Num: 5
GXD Expression  
Probe: MGI:4425541
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1760623
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4829124
Age: embryonic day 14.5
Image: euxassay_016522_15
Specimen Label: euxassay_016522_15
Detected: true
Specimen Num: 6
GXD Expression  
Probe: MGI:4425541
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1760623
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4829124
Age: embryonic day 14.5
Image: euxassay_016522_17
Specimen Label: euxassay_016522_17
Detected: true
Specimen Num: 7
GXD Expression  
Probe: MGI:4425541
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1760623
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4829124
Age: embryonic day 14.5
Image: euxassay_016522_18
Specimen Label: euxassay_016522_18
Detected: true
Specimen Num: 8
GXD Expression  
Probe: MGI:6272749
Assay Type: Immunohistochemistry
Annotation Date: 2019-01-09
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1619428
Pattern: Regionally restricted
Stage: TS28
Assay Id: MGI:6272758
Age: postnatal day 5
Note: Expression was detected at the base of the stereocilia of vestibular hair cells.
Specimen Label: 3E P5
Detected: true
Specimen Num: 8
GXD Expression  
Probe: MGI:6272749
Assay Type: Immunohistochemistry
Annotation Date: 2019-01-09
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1619428
Pattern: Regionally restricted
Stage: TS28
Assay Id: MGI:6272758
Age: postnatal day 15
Note: Expression was detected at the base of the stereocilia of vestibular hair cells.
Specimen Label: 3E P15
Detected: true
Specimen Num: 9
GXD Expression  
Probe: MGI:6272749
Assay Type: Immunohistochemistry
Annotation Date: 2019-01-09
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1906126
Pattern: Regionally restricted
Stage: TS26
Assay Id: MGI:6272758
Age: embryonic day 18.0
Note: Expression was detected all along the stereocilia of outer hair cells, whereas no labeling is found in the stereocilia of inner hair cells.
Specimen Label: 3A
Detected: true
Specimen Num: 1
GXD Expression  
Probe: MGI:6272749
Assay Type: Immunohistochemistry
Annotation Date: 2019-01-09
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1906126
Pattern: Regionally restricted
Stage: TS26
Assay Id: MGI:6272758
Age: embryonic day 20.0
Note: At E20, the outer hair cell labeling becomes restricted to the base of the stereocilia and also appears at the base of the inner hair cell sterocilia.
Specimen Label: not shown
Detected: true
Specimen Num: 2
GXD Expression  
Probe: MGI:6272749
Assay Type: Immunohistochemistry
Annotation Date: 2019-01-09
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1906127
Pattern: Regionally restricted
Stage: TS27
Assay Id: MGI:6272758
Age: postnatal day 0
Note: Intense labeling at the base of growing sterocilia persisted at P0.
Specimen Label: not shown
Detected: true
Specimen Num: 3
GXD Expression  
Probe: MGI:6272749
Assay Type: Immunohistochemistry
Annotation Date: 2019-01-09
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1906128
Pattern: Regionally restricted
Stage: TS28
Assay Id: MGI:6272758
Age: postnatal day 5
Note: Expression was detected at the base of the stereocilia of both outer and inner hair cells.
Specimen Label: 3B left
Detected: true
Specimen Num: 4
GXD Expression  
Probe: MGI:6272749
Assay Type: Immunohistochemistry
Annotation Date: 2019-01-09
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1906128
Pattern: Regionally restricted
Stage: TS28
Assay Id: MGI:6272758
Age: postnatal day 5
Note: Expression was detected at the base of the stereocilia of inner hair cells.
Specimen Label: 3B right
Detected: true
Specimen Num: 5
GXD Expression  
Probe: MGI:6272749
Assay Type: Immunohistochemistry
Annotation Date: 2019-01-09
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1906128
Pattern: Regionally restricted
Stage: TS28
Assay Id: MGI:6272758
Age: postnatal day 10
Note: Labeling of sterocilia starts to fade out first in inner hair cells at P10.
Specimen Label: 3C
Detected: true
Specimen Num: 6
GXD Expression  
Probe: MGI:6272749
Assay Type: Immunohistochemistry
Annotation Date: 2019-01-09
Strength: Strong
Sex: Not Specified
Emaps: EMAPS:1906128
Pattern: Regionally restricted
Stage: TS28
Assay Id: MGI:6272758
Age: postnatal day 15
Note: Usherin is no longer detected in the sterocilia, but a strong labeling can be seen in the apical part of the cell soma in both hair cells and supporting cells.
Specimen Label: 3D
Detected: true
Specimen Num: 7
GXD Expression  
Probe: MGI:4425541
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1761223
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4829124
Age: embryonic day 14.5
Image: euxassay_016522_15
Specimen Label: euxassay_016522_15
Detected: true
Specimen Num: 6
Publication    
First Author: Eudy JD
Year: 2000
Journal: GenBank Submission
Title: Mus musculus putative extracellular matrix protein MUSH2A mRNA, complete cds
Pages: AF151717
Publication
First Author: Yang J
Year: 2010
Journal: PLoS Genet
Title: Ablation of whirlin long isoform disrupts the USH2 protein complex and causes vision and hearing loss.
Volume: 6
Issue: 5
Pages: e1000955
Publication
First Author: Zou J
Year: 2015
Journal: Hum Mol Genet
Title: Individual USH2 proteins make distinct contributions to the ankle link complex during development of the mouse cochlear stereociliary bundle.
Volume: 24
Issue: 24
Pages: 6944-57
Publication
First Author: Mathur PD
Year: 2023
Journal: Sci Rep
Title: Adenylyl cyclase 6 plays a minor role in the mouse inner ear and retina.
Volume: 13
Issue: 1
Pages: 7075
Publication
First Author: Zou J
Year: 2014
Journal: Hum Mol Genet
Title: Deletion of PDZD7 disrupts the Usher syndrome type 2 protein complex in cochlear hair cells and causes hearing loss in mice.
Volume: 23
Issue: 9
Pages: 2374-90
Publication
First Author: Zallocchi M
Year: 2010
Journal: Biochemistry
Title: Biochemical characterization of native Usher protein complexes from a vesicular subfraction of tracheal epithelial cells.
Volume: 49
Issue: 6
Pages: 1236-47
Publication  
First Author: Cosgrove D
Year: 2014
Journal: Int J Biochem Cell Biol
Title: Usher protein functions in hair cells and photoreceptors.
Volume: 46
Pages: 80-9
Publication
First Author: Michalski N
Year: 2007
Journal: J Neurosci
Title: Molecular characterization of the ankle-link complex in cochlear hair cells and its role in the hair bundle functioning.
Volume: 27
Issue: 24
Pages: 6478-88
Publication      
First Author: MouseBookTM
Year: 2005
Journal: Unpublished
Title: Information obtained from MouseBookTM, Medical Research Council Mammalian Genetics Unit, Harwell, UK.
Publication      
First Author: Shanghai Model Organisms Center
Year: 2017
Journal: MGI Direct Data Submission
Title: Information obtained from the Shanghai Model Organisms Center (SMOC), Shanghai, China
Publication  
First Author: Collin GB
Year: 2020
Journal: Cells
Title: Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss.
Volume: 9
Issue: 4
Publication      
First Author: European Mouse Mutant Archive
Year: 2003
Journal: Unpublished
Title: Information obtained from the European Mouse Mutant Archive (EMMA)
Publication
First Author: Bailey PJ
Year: 2006
Journal: Exp Cell Res
Title: A global genomic transcriptional code associated with CNS-expressed genes.
Volume: 312
Issue: 16
Pages: 3108-19
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2001
Title: RIKEN Data Curation in Mouse Genome Informatics
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2001
Title: Gene Ontology Annotation by the MGI Curatorial Staff
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Mouse Synonym Curation
Publication      
First Author: Mouse Genome Informatics Scientific Curators
Year: 2003
Journal: Database Download
Title: Integrating Computational Gene Models into the Mouse Genome Informatics (MGI) Database
Publication      
First Author: Wellcome Trust Sanger Institute
Year: 2010
Journal: MGI Direct Data Submission
Title: Alleles produced for the EUCOMM and EUCOMMTools projects by the Wellcome Trust Sanger Institute
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Title: Rat to Mouse ISO GO annotation transfer
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2003
Title: MGI Sequence Curation Reference
Publication
First Author: Kawai J
Year: 2001
Journal: Nature
Title: Functional annotation of a full-length mouse cDNA collection.
Volume: 409
Issue: 6821
Pages: 685-90
Publication
First Author: Zambrowicz BP
Year: 2003
Journal: Proc Natl Acad Sci U S A
Title: Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention.
Volume: 100
Issue: 24
Pages: 14109-14
Publication      
First Author: Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI)
Year: 2008
Journal: Database Download
Title: Mouse Gene Trap Data Load from dbGSS
Publication
First Author: Skarnes WC
Year: 2011
Journal: Nature
Title: A conditional knockout resource for the genome-wide study of mouse gene function.
Volume: 474
Issue: 7351
Pages: 337-42