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Search results 1 to 100 out of 116 for Ush2a

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Hits by Strain

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Type Details Score
Gene
7399 | USH2A
Type: gene
Organism: Homo sapiens
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Gene
RGD:628777 | Ush2a
Type: gene
Organism: Rattus norvegicus
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Gene
ZDB-GENE-060503-794 | ush2a
Type: gene
Organism: Danio rerio
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Protein Domain
IPR026915 | USH2A
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 [].
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Protein Coding Gene
MGI:1341292 | Ush2a
Type: protein_coding_gene
Organism: Mus musculus
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Publication
14676276 | J:87900
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
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Gene
102723833 | USH2A-AS2
Type: gene
Organism: Homo sapiens
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Gene
105372918 | USH2A-AS1
Type: gene
Organism: Homo sapiens
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Publication
10775529 | -
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
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Publication
32313182 | J:301019
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
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Publication
19959642 | J:160402
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
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Publication
16434480 | J:106765
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
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Publication
12160733 | J:78438
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
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Publication
9624053 | -
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
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Publication
16114888 | -
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
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Protein
Q9D1Z8
Organism: Mus musculus
Length: 214  
Fragment?: false
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Protein
Q8BXL8
Organism: Mus musculus
Length: 760  
Fragment?: true
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Protein
Q2QI47
Organism: Mus musculus
Length: 5193  
Fragment?: false
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Publication
10384036 | J:56089
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
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Publication
17360538 | J:118927
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
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Publication
23055499 | J:266117
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
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Publication
25406310 | J:218667
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
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Publication
16301217 | J:186070
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
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Publication
21212183 | J:171542
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
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Publication
17906286 | J:132040
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
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Publication
23144817 | J:195357
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
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Publication
16301216 | J:106804
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
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Publication
16545802 | J:116295
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
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Protein Coding Gene
MGP_CAROLIEiJ_G0015032 | -
Type: protein_coding_gene
Organism: Mus caroli
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Protein Coding Gene
MGP_129S1SvImJ_G0016925 | -
Type: protein_coding_gene
Organism: Mus musculus
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Protein Coding Gene
MGP_AJ_G0016904 | -
Type: protein_coding_gene
Organism: Mus musculus
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Protein Coding Gene
MGP_AKRJ_G0016869 | -
Type: protein_coding_gene
Organism: Mus musculus
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Protein Coding Gene
MGP_BALBcJ_G0016862 | -
Type: protein_coding_gene
Organism: Mus musculus
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Protein Coding Gene
MGP_C3HHeJ_G0016686 | -
Type: protein_coding_gene
Organism: Mus musculus
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Protein Coding Gene
MGI_C57BL6J_1341292 | -
Type: protein_coding_gene
Organism: Mus musculus
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Protein Coding Gene
MGP_C57BL6NJ_G0017325 | -
Type: protein_coding_gene
Organism: Mus musculus
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Protein Coding Gene
MGP_CASTEiJ_G0016269 | -
Type: protein_coding_gene
Organism: Mus musculus
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Protein Coding Gene
MGP_CBAJ_G0016660 | -
Type: protein_coding_gene
Organism: Mus musculus
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Protein Coding Gene
MGP_DBA2J_G0016766 | -
Type: protein_coding_gene
Organism: Mus musculus
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Protein Coding Gene
MGP_FVBNJ_G0016762 | -
Type: protein_coding_gene
Organism: Mus musculus
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Protein Coding Gene
MGP_LPJ_G0016841 | -
Type: protein_coding_gene
Organism: Mus musculus
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Protein Coding Gene
MGP_NODShiLtJ_G0016794 | -
Type: protein_coding_gene
Organism: Mus musculus
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Protein Coding Gene
MGP_NZOHlLtJ_G0017362 | -
Type: protein_coding_gene
Organism: Mus musculus
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Protein Coding Gene
MGP_PWKPhJ_G0016056 | -
Type: protein_coding_gene
Organism: Mus musculus
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Protein Coding Gene
MGP_WSBEiJ_G0016331 | -
Type: protein_coding_gene
Organism: Mus musculus
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Protein Coding Gene
MGP_PahariEiJ_G0028264 | -
Type: protein_coding_gene
Organism: Mus pahari
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Protein Coding Gene
MGP_SPRETEiJ_G0015832 | -
Type: protein_coding_gene
Organism: Mus spretus
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GXD Expression
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
Detected: true
Specimen Num: 4
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GXD Expression
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
Detected: true
Specimen Num: 2
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GXD Expression
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
Detected: true
Specimen Num: 6
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GXD Expression
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
Detected: true
Specimen Num: 1
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GXD Expression
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
Detected: true
Specimen Num: 2
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GXD Expression
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
Detected: true
Specimen Num: 3
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GXD Expression
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
Detected: true
Specimen Num: 4
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GXD Expression
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
Detected: true
Specimen Num: 5
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GXD Expression
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
Detected: true
Specimen Num: 6
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GXD Expression
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
Detected: true
Specimen Num: 7
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GXD Expression
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
Detected: true
Specimen Num: 8
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GXD Expression
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.
Detected: true
Specimen Num: 8
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GXD Expression
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.
Detected: true
Specimen Num: 9
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GXD Expression
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.
Detected: true
Specimen Num: 1
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GXD Expression
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.
Detected: true
Specimen Num: 2
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GXD Expression
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.
Detected: true
Specimen Num: 3
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GXD Expression
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.
Detected: true
Specimen Num: 4
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GXD Expression
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.
Detected: true
Specimen Num: 5
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GXD Expression
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.
Detected: true
Specimen Num: 6
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GXD Expression
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.
Detected: true
Specimen Num: 7
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GXD Expression
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
Detected: true
Specimen Num: 6
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Publication
- | J:66610
   
First Author: Eudy JD
Year: 2000
Journal: GenBank Submission
Title: Mus musculus putative extracellular matrix protein MUSH2A mRNA, complete cds
Pages: AF151717
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Publication
20502675 | J:160677
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
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Publication
26401052 | J:226845
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
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Publication
24334608 | J:209073
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
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Publication
20058854 | J:219989
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
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Publication
24239741 | J:218725
 
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
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Publication
17567809 | J:122415
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
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Publication
32290105 | J:282558
 
First Author: Collin GB
Year: 2020
Journal: Cells
Title: Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss.
Volume: 9
Issue: 4
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Publication
16919269 | J:112701
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
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Publication
- | J:68100
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2001
Title: RIKEN Data Curation in Mouse Genome Informatics
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Publication
- | J:73065
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2001
Title: Gene Ontology Annotation by the MGI Curatorial Staff
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Publication
- | J:94790
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Mouse Synonym Curation
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Publication
- | J:84900
     
First Author: Mouse Genome Informatics Scientific Curators
Year: 2003
Journal: Database Download
Title: Integrating Computational Gene Models into the Mouse Genome Informatics (MGI) Database
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Publication
- | J:155845
     
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
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Publication
11217851 | J:65060
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
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Publication
14610273 | J:86696
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
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Publication
21677750 | J:173534
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
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Publication
- | J:155856
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Title: Rat to Mouse ISO GO annotation transfer
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Publication
- | J:85000
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2003
Title: MGI Sequence Curation Reference
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First Author: Okazaki Y
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Title: Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs.
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First Author: MGD Nomenclature Committee
Year: 1995
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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
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First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Title: Human to Mouse ISO GO annotation transfer
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First Author: Diez-Roux G
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First Author: Mouse Genome Informatics Scientific Curators
Year: 2000
Title: Gene Ontology Annotation by electronic association of SwissProt Keywords with GO terms
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First Author: Gaudet P
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Journal: Brief Bioinform
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First Author: Allen Institute for Brain Science
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Journal: Allen Institute
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First Author: Mouse Genome Informatics
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Journal: Database Release
Title: Protein Ontology Association Load.
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First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations
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First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform
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First Author: Mouse Genome Database and National Center for Biotechnology Information
Year: 2000
Journal: Database Release
Title: Entrez Gene Load
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First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations
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