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Search results 1 to 100 out of 175 for Cep290

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Type Details Score
Gene
80184 | CEP290
Type: gene
Organism: human
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Gene
314787 | Cep290
Type: gene
Organism: rat
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Gene
452113 | CEP290
Type: gene
Organism: chimpanzee
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Gene
482591 | CEP290
Type: gene
Organism: dog, domestic
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Gene
282707 | CEP290
Type: gene
Organism: cattle
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Gene
417887 | CEP290
Type: gene
Organism: chicken
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Gene
560588 | cep290
Type: gene
Organism: zebrafish
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Gene
708286 | CEP290
Type: gene
Organism: macaque, rhesus
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Gene
100144438 | cep290
Type: gene
Organism: frog, western clawed
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Protein Coding Gene
MGI:2384917 | Cep290
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Domain
IPR026201 | Cep290
Type: Family
Description: Centrosomal protein of 290kDa (Cep290) is part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition. It activates ATF4-mediated transcription. It is required for the correct localisation of ciliary and phototransduction proteins in retinal photoreceptor cells and may play a role in ciliary transport processes [, , ].
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Publication
16632484 | J:108467
First Author: Chang B
Year: 2006
Journal: Hum Mol Genet
Title: In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse.
Volume: 15
Issue: 11
Pages: 1847-57
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Protein
Q99KF2
Organism: Mus musculus/domesticus
Length: 695  
Fragment?: true
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Publication
21565611 | J:173396
First Author: Sang L
Year: 2011
Journal: Cell
Title: Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.
Volume: 145
Issue: 4
Pages: 513-28
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Publication
21725307 | J:176174
First Author: Garcia-Gonzalo FR
Year: 2011
Journal: Nat Genet
Title: A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.
Volume: 43
Issue: 8
Pages: 776-84
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Publication
24051377 | J:204004
First Author: Drivas TG
Year: 2013
Journal: J Clin Invest
Title: Disruption of CEP290 microtubule/membrane-binding domains causes retinal degeneration.
Volume: 123
Issue: 10
Pages: 4525-39
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Protein
Q6A078
Organism: Mus musculus/domesticus
Length: 2472  
Fragment?: false
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Publication
30195768 | J:279051
 
First Author: Dooley SJ
Year: 2018
Journal: Mol Ther Nucleic Acids
Title: Spliceosome-Mediated Pre-mRNA trans-Splicing Can Repair CEP290 mRNA.
Volume: 12
Pages: 294-308
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Publication
30332642 | J:270846
First Author: Mookherjee S
Year: 2018
Journal: Cell Rep
Title: A CEP290 C-Terminal Domain Complements the Mutant CEP290 of Rd16 Mice In Trans and Rescues Retinal Degeneration.
Volume: 25
Issue: 3
Pages: 611-623.e6
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Publication
22446187 | J:184545
First Author: Rachel RA
Year: 2012
Journal: J Clin Invest
Title: Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis.
Volume: 122
Issue: 4
Pages: 1233-45
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Publication
25859007 | J:222403
First Author: Rachel RA
Year: 2015
Journal: Hum Mol Genet
Title: CEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathies.
Volume: 24
Issue: 13
Pages: 3775-91
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Publication
26936822 | J:235807
First Author: Rao KN
Year: 2016
Journal: Hum Mol Genet
Title: Ciliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR.
Volume: 25
Issue: 10
Pages: 2005-2012
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Publication
24223178 | J:209218
First Author: Garanto A
Year: 2013
Journal: PLoS One
Title: Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosis.
Volume: 8
Issue: 11
Pages: e79369
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Publication
24356449 | J:215958
First Author: Klinger M
Year: 2014
Journal: Mol Biol Cell
Title: The novel centriolar satellite protein SSX2IP targets Cep290 to the ciliary transition zone.
Volume: 25
Issue: 4
Pages: 495-507
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Publication
24421332 | J:208267
First Author: Kobayashi T
Year: 2014
Journal: J Cell Biol
Title: The CP110-interacting proteins Talpid3 and Cep290 play overlapping and distinct roles in cilia assembly.
Volume: 204
Issue: 2
Pages: 215-29
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Publication
18772192 | J:143624
First Author: Kim J
Year: 2008
Journal: Hum Mol Genet
Title: CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium.
Volume: 17
Issue: 23
Pages: 3796-805
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Publication
24671090 | J:215050
First Author: Boye SE
Year: 2014
Journal: PLoS One
Title: Natural history of cone disease in the murine model of Leber congenital amaurosis due to CEP290 mutation: determining the timing and expectation of therapy.
Volume: 9
Issue: 3
Pages: e92928
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Publication
26594343 | J:252039
 
First Author: Ramsbottom S
Year: 2015
Journal: F1000Res
Title: Murine Cep290 phenotypes are modified by genetic backgrounds and provide an impetus for investigating disease modifier alleles.
Volume: 4
Pages: 590
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Protein
E9Q9M0
Organism: Mus musculus/domesticus
Length: 2479  
Fragment?: false
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Protein
A0A1W2P6U7
Organism: Mus musculus/domesticus
Length: 237  
Fragment?: true
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Publication
30446612 | J:290562
First Author: Ramsbottom SA
Year: 2018
Journal: Proc Natl Acad Sci U S A
Title: Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model.
Volume: 115
Issue: 49
Pages: 12489-12494
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Publication
30035750 | J:265676
First Author: Kim YJ
Year: 2018
Journal: J Clin Invest
Title: Eupatilin rescues ciliary transition zone defects to ameliorate ciliopathy-related phenotypes.
Volume: 128
Issue: 8
Pages: 3642-3648
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Publication
28679290 | J:280313
First Author: Zhang W
Year: 2018
Journal: Hum Gene Ther
Title: Gene Therapy Using a miniCEP290 Fragment Delays Photoreceptor Degeneration in a Mouse Model of Leber Congenital Amaurosis.
Volume: 29
Issue: 1
Pages: 42-50
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Publication
23644468 | J:198937
First Author: Wang WJ
Year: 2013
Journal: Nat Cell Biol
Title: CEP162 is an axoneme-recognition protein promoting ciliary transition zone assembly at the cilia base.
Volume: 15
Issue: 6
Pages: 591-601
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Publication
17898177 | J:125553
First Author: McEwen DP
Year: 2007
Journal: Proc Natl Acad Sci U S A
Title: Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons.
Volume: 104
Issue: 40
Pages: 15917-22
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Publication
34520396 | J:314203
 
First Author: Potter VL
Year: 2021
Journal: JCI Insight
Title: Super-resolution microscopy reveals photoreceptor-specific subciliary location and function of ciliopathy-associated protein CEP290.
Volume: 6
Issue: 20
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Publication
37624784 | J:339569
First Author: Larson DR
Year: 2023
Journal: PLoS One
Title: Anterior chamber depth in mice is controlled by several quantitative trait loci.
Volume: 18
Issue: 8
Pages: e0286897
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Publication
26305532 | J:230938
First Author: Koehn DR
Year: 2015
Journal: Invest Ophthalmol Vis Sci
Title: Genetic Evidence for Differential Regulation of Corneal Epithelial and Stromal Thickness.
Volume: 56
Issue: 9
Pages: 5599-607
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Publication
23943788 | J:203124
First Author: Zhang Y
Year: 2014
Journal: Hum Mol Genet
Title: BBS mutations modify phenotypic expression of CEP290-related ciliopathies.
Volume: 23
Issue: 1
Pages: 40-51
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Publication
16682970 | J:111278
First Author: Valente EM
Year: 2006
Journal: Nat Genet
Title: Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.
Volume: 38
Issue: 6
Pages: 623-5
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Publication
31694913 | J:283065
First Author: Datta P
Year: 2019
Journal: J Biol Chem
Title: The myosin-tail homology domain of centrosomal protein 290 is essential for protein confinement between the inner and outer segments in photoreceptors.
Volume: 294
Issue: 50
Pages: 19119-19136
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Publication
21655357 | J:179531
 
First Author: Freeman NE
Year: 2011
Journal: Mol Vis
Title: Genetic networks in the mouse retina: growth associated protein 43 and phosphatase tensin homolog network.
Volume: 17
Pages: 1355-72
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Publication
34215725 | J:320581
First Author: Saltykova IV
Year: 2021
Journal: Cell Death Dis
Title: Tribbles homolog 3-mediated targeting the AKT/mTOR axis in mice with retinal degeneration.
Volume: 12
Issue: 7
Pages: 664
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Publication
16682973 | J:111268
First Author: Sayer JA
Year: 2006
Journal: Nat Genet
Title: The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
Volume: 38
Issue: 6
Pages: 674-81
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Publication
25125607 | J:226878
First Author: Subramanian B
Year: 2014
Journal: Invest Ophthalmol Vis Sci
Title: Loss of Raf-1 kinase inhibitory protein delays early-onset severe retinal ciliopathy in Cep290rd16 mouse.
Volume: 55
Issue: 9
Pages: 5788-94
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Publication
29706649 | J:280324
First Author: Starr CR
Year: 2018
Journal: Cell Death Dis
Title: Translational attenuation and retinal degeneration in mice with an active integrated stress response.
Volume: 9
Issue: 5
Pages: 484
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Publication
18694559 | J:233579
First Author: Tsang WY
Year: 2008
Journal: Dev Cell
Title: CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease.
Volume: 15
Issue: 2
Pages: 187-97
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Publication
21245082 | J:169232
First Author: Cideciyan AV
Year: 2011
Journal: Hum Mol Genet
Title: Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy.
Volume: 20
Issue: 7
Pages: 1411-23
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Publication
26301811 | J:226246
First Author: Slaats GG
Year: 2015
Journal: J Clin Invest
Title: DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome.
Volume: 125
Issue: 9
Pages: 3657-66
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Publication
31879347 | J:283231
First Author: Ramsbottom SA
Year: 2020
Journal: Proc Natl Acad Sci U S A
Title: Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome.
Volume: 117
Issue: 2
Pages: 1113-1118
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Publication
31747684 | J:283731
First Author: Starr CR
Year: 2019
Journal: Invest Ophthalmol Vis Sci
Title: Role of Translational Attenuation in Inherited Retinal Degeneration.
Volume: 60
Issue: 14
Pages: 4849-4857
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Publication
- | J:147336
     
First Author: Chang B
Year: 2007
Title: Mouse models of RP
Pages: 149-161
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Publication
26747773 | J:231018
First Author: Kooragayala K
Year: 2015
Journal: Invest Ophthalmol Vis Sci
Title: Quantification of Oxygen Consumption in Retina Ex Vivo Demonstrates Limited Reserve Capacity of Photoreceptor Mitochondria.
Volume: 56
Issue: 13
Pages: 8428-36
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Publication
33961633 | J:309972
First Author: Datta P
Year: 2021
Journal: PLoS One
Title: Differential requirement of NPHP1 for compartmentalized protein localization during photoreceptor outer segment development and maintenance.
Volume: 16
Issue: 5
Pages: e0246358
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Publication
24946806 | J:212182
First Author: Hynes AM
Year: 2014
Journal: Proc Natl Acad Sci U S A
Title: Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis.
Volume: 111
Issue: 27
Pages: 9893-8
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Publication
31138784 | J:279812
First Author: Starr CR
Year: 2019
Journal: Cell Death Dis
Title: Delineating the role of eIF2α in retinal degeneration.
Volume: 10
Issue: 6
Pages: 409
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Publication
26139610 | J:233541
First Author: Zhao L
Year: 2015
Journal: EMBO Mol Med
Title: Microglial phagocytosis of living photoreceptors contributes to inherited retinal degeneration.
Volume: 7
Issue: 9
Pages: 1179-97
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Publication
29899041 | J:264617
First Author: Dharmat R
Year: 2018
Journal: J Cell Biol
Title: SPATA7 maintains a novel photoreceptor-specific zone in the distal connecting cilium.
Volume: 217
Issue: 8
Pages: 2851-2865
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Protein Coding Gene
MGP_CAROLIEiJ_G0015770 | -
Type: protein_coding_gene
Organism: Mus caroli
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Protein Coding Gene
MGP_129S1SvImJ_G0017691 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_AJ_G0017670 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_AKRJ_G0017632 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_BALBcJ_G0017634 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_C3HHeJ_G0017459 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGI_C57BL6J_2384917 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_C57BL6NJ_G0018091 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_CASTEiJ_G0017020 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_CBAJ_G0017428 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_DBA2J_G0017533 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_FVBNJ_G0017527 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_LPJ_G0017607 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_NODShiLtJ_G0017557 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_NZOHlLtJ_G0018129 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_PWKPhJ_G0016802 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_WSBEiJ_G0017080 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_PahariEiJ_G0031317 | -
Type: protein_coding_gene
Organism: Mus pahari
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Protein Coding Gene
MGP_SPRETEiJ_G0016592 | -
Type: protein_coding_gene
Organism: Mus spretus
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Publication
24415959 | J:223125
First Author: Hall EA
Year: 2013
Journal: PLoS Genet
Title: Acute versus chronic loss of mammalian Azi1/Cep131 results in distinct ciliary phenotypes.
Volume: 9
Issue: 12
Pages: e1003928
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Publication
31302159 | J:280439
 
First Author: Brun A
Year: 2019
Journal: Exp Eye Res
Title: In vivo phenotypic and molecular characterization of retinal degeneration in mouse models of three ciliopathies.
Volume: 186
Pages: 107721
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Publication
22832925 | J:188633
First Author: Ghosh AK
Year: 2012
Journal: Am J Physiol Renal Physiol
Title: 3D spheroid defects in NPHP knockdown cells are rescued by the somatostatin receptor agonist octreotide.
Volume: 303
Issue: 8
Pages: F1225-9
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Publication
16332269 | J:156373
First Author: Chang B
Year: 2005
Journal: Vis Neurosci
Title: Mouse models of ocular diseases.
Volume: 22
Issue: 5
Pages: 587-93
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Publication
21052544 | J:166679
 
First Author: Won J
Year: 2011
Journal: J Ophthalmol
Title: Mouse model resources for vision research.
Volume: 2011
Pages: 391384
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Publication
24927541 | J:212094
First Author: Fu W
Year: 2014
Journal: Proc Natl Acad Sci U S A
Title: Primary cilia control hedgehog signaling during muscle differentiation and are deregulated in rhabdomyosarcoma.
Volume: 111
Issue: 25
Pages: 9151-6
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Publication
21623382 | J:172420
First Author: Lancaster MA
Year: 2011
Journal: Nat Med
Title: Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome.
Volume: 17
Issue: 6
Pages: 726-31
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Publication
21956870 | J:178869
First Author: Yun EJ
Year: 2012
Journal: Anat Rec (Hoboken)
Title: mSmile is necessary for bronchial smooth muscle and alveolar myofibroblast development.
Volume: 295
Issue: 1
Pages: 167-76
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Publication
17920017 | J:126953
First Author: Xie Z
Year: 2007
Journal: Neuron
Title: Cep120 and TACCs control interkinetic nuclear migration and the neural progenitor pool.
Volume: 56
Issue: 1
Pages: 79-93
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Publication
24469809 | J:206657
First Author: Ye X
Year: 2014
Journal: Proc Natl Acad Sci U S A
Title: C2cd3 is critical for centriolar distal appendage assembly and ciliary vesicle docking in mammals.
Volume: 111
Issue: 6
Pages: 2164-9
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Publication
27979967 | J:239231
First Author: Zhang B
Year: 2017
Journal: J Biol Chem
Title: DAZ-interacting Protein 1 (Dzip1) Phosphorylation by Polo-like Kinase 1 (Plk1) Regulates the Centriolar Satellite Localization of the BBSome Protein during the Cell Cycle.
Volume: 292
Issue: 4
Pages: 1351-1360
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Publication
27328943 | J:239714
First Author: Ronquillo CC
Year: 2016
Journal: FASEB J
Title: Ciliopathy-associated IQCB1/NPHP5 protein is required for mouse photoreceptor outer segment formation.
Volume: 30
Issue: 10
Pages: 3400-3412
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Publication
29038301 | J:255486
First Author: Agbu SO
Year: 2018
Journal: J Cell Biol
Title: The small GTPase RSG1 controls a final step in primary cilia initiation.
Volume: 217
Issue: 1
Pages: 413-427
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Publication
27002738 | J:231949
 
First Author: San Agustin JT
Year: 2016
Journal: Nat Commun
Title: Genetic link between renal birth defects and congenital heart disease.
Volume: 7
Pages: 11103
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Publication
29487109 | J:260445
 
First Author: Wang C
Year: 2018
Journal: Development
Title: Centrosomal protein Dzip1l binds Cby, promotes ciliary bud formation, and acts redundantly with Bromi to regulate ciliogenesis in the mouse.
Volume: 145
Issue: 6
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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
- | J:90559
     
First Author: The Mammalian Genetics Unit at Harwell
Year: 2004
Journal: Unpublished
Title: Information obtained from the Mammalian Genetics Unit, Medical Research Council (MRC), Harwell, UK
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Publication
- | J:169366
     
First Author: MouseBookTM
Year: 2005
Journal: Unpublished
Title: Information obtained from MouseBookTM, Medical Research Council Mammalian Genetics Unit, Harwell, UK.
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Publication
25807483 | J:222159
First Author: Li Y
Year: 2015
Journal: Nature
Title: Global genetic analysis in mice unveils central role for cilia in congenital heart disease.
Volume: 521
Issue: 7553
Pages: 520-4
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Publication
- | J:175213
     
First Author: Lo C
Year: 2011
Journal: MGI Direct Data Submission (B2B/CvDC)
Title: Information submitted by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program (B2B/CvDC)
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Publication
- | J:238766
     
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
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Publication
12477932 | J:82808
First Author: Strausberg RL
Year: 2002
Journal: Proc Natl Acad Sci U S A
Title: Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
Volume: 99
Issue: 26
Pages: 16899-903
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Publication
- | J:101977
     
First Author: The Jackson Laboratory
Year: 2005
Journal: Unpublished
Title: Information obtained from The Jackson Laboratory, Bar Harbor, ME
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MouseMine is a collaboration between MGI at The Jackson Laboratory and the InterMine project at the Cambridge Systems Biology Centre. MouseMine is funded through a grant from the NIH/NHGRI.The Jackson Laboratory makes no representation about the suitability or accuracy of this software or data for any purpose, and makes no warranties, either express or implied, including merchantability and fitness for a particular purpose or that the use of this software or data will not infringe any third party patents, copyrights, trademarks, or other rights. the software and data are provided "as is". This software and data are provided to enhance knowledge and encourage progress in the scientific community and are to be used only for research and educational purposes. Any reproduction or use for commercial purpose is prohibited without the prior express written permission of the Jackson Laboratory.

Copyright © 2017 by The Jackson Laboratory. All Rights Reserved

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