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Search results 1 to 100 out of 131 for Rpgrip1l

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0.038s
Type Details Score
Gene
Type: gene
Organism: Homo sapiens
Gene
Type: gene
Organism: Rattus norvegicus
Gene
Type: gene
Organism: Danio rerio
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Domain
Type: Family
Description: The human RPGRIP1L gene is one of the causal genes in Meckel and Joubert type B syndromes, two autosomal-recessive multisystem ciliopathies []. RPGRIP1L (also called MKS5, NPHP-8, and for the mouse gene, Ftm, Fantom) is required from developmental processes such as the establishment of left-right asymmetry and patterning of the neural tube and the limbs [], and ventricular septal development []. The protein is mainly found at the ciliary transition zone, where it forms a complex with nephrocystin-1 and nephrocystin-4 [, ]. RPGRIP1L is essential for hair follicle morphogenesis []and for planar cell polarity In the mouse cochlea and in the zebrafish floor plate [].
Publication
First Author: Chen J
Year: 2015
Journal: J Invest Dermatol
Title: The ciliopathy gene Rpgrip1l is essential for hair follicle development.
Volume: 135
Issue: 3
Pages: 701-709
Publication
First Author: Mahuzier A
Year: 2012
Journal: J Cell Biol
Title: Dishevelled stabilization by the ciliopathy protein Rpgrip1l is essential for planar cell polarity.
Volume: 198
Issue: 5
Pages: 927-40
Publication
First Author: Delous M
Year: 2007
Journal: Nat Genet
Title: The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.
Volume: 39
Issue: 7
Pages: 875-81
Publication
First Author: Vierkotten J
Year: 2007
Journal: Development
Title: Ftm is a novel basal body protein of cilia involved in Shh signalling.
Volume: 134
Issue: 14
Pages: 2569-77
Publication
First Author: Gerhardt C
Year: 2013
Journal: PLoS One
Title: The ciliary protein Ftm is required for ventricular wall and septal development.
Volume: 8
Issue: 2
Pages: e57545
Publication
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
Publication
First Author: Stratigopoulos G
Year: 2016
Journal: J Clin Invest
Title: Hypomorphism of Fto and Rpgrip1l causes obesity in mice.
Volume: 126
Issue: 5
Pages: 1897-910
Publication
First Author: Choi YJ
Year: 2019
Journal: PLoS Genet
Title: RPGRIP1L is required for stabilizing epidermal keratinocyte adhesion through regulating desmoglein endocytosis.
Volume: 15
Issue: 1
Pages: e1007914
Publication
First Author: Gerhardt C
Year: 2015
Journal: J Cell Biol
Title: The transition zone protein Rpgrip1l regulates proteasomal activity at the primary cilium.
Volume: 210
Issue: 1
Pages: 115-33
Protein
Organism: Mus musculus
Length: 77  
Fragment?: true
Protein
Organism: Mus musculus
Length: 78  
Fragment?: true
Protein
Organism: Mus musculus
Length: 211  
Fragment?: false
Publication
First Author: Roepman R
Year: 2005
Journal: Proc Natl Acad Sci U S A
Title: Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations.
Volume: 102
Issue: 51
Pages: 18520-5
Protein
Organism: Mus musculus
Length: 253  
Fragment?: true
Protein
Organism: Mus musculus
Length: 1264  
Fragment?: false
Publication
First Author: Carli JFM
Year: 2018
Journal: FASEB J
Title: The role of Rpgrip1l, a component of the primary cilium, in adipocyte development and function.
Volume: 32
Issue: 7
Pages: 3946-3956
Publication
First Author: Stratigopoulos G
Year: 2014
Journal: Cell Metab
Title: Hypomorphism for RPGRIP1L, a ciliary gene vicinal to the FTO locus, causes increased adiposity in mice.
Volume: 19
Issue: 5
Pages: 767-79
Publication  
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
Publication
First Author: Laclef C
Year: 2015
Journal: Hum Mol Genet
Title: The role of primary cilia in corpus callosum formation is mediated by production of the Gli3 repressor.
Volume: 24
Issue: 17
Pages: 4997-5014
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus caroli
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus pahari
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus spretus
GXD Expression    
Probe: MGI:4938184
Assay Type: RT-PCR
Annotation Date: 2011-02-25
Strength: Present
Sex: Male
Emaps: EMAPS:1797220
Stage: TS20
Assay Id: MGI:4938189
Age: embryonic day 12.0
Image: 1
Detected: true
Specimen Num: 2
GXD Expression    
Probe: MGI:4938184
Assay Type: RT-PCR
Annotation Date: 2011-02-25
Strength: Present
Sex: Male
Emaps: EMAPS:1797221
Stage: TS21
Assay Id: MGI:4938189
Age: embryonic day 13.5
Image: 1
Detected: true
Specimen Num: 4
GXD Expression    
Probe: MGI:4938184
Assay Type: RT-PCR
Annotation Date: 2011-02-25
Strength: Present
Sex: Male
Emaps: EMAPS:1797223
Stage: TS23
Assay Id: MGI:4938189
Age: embryonic day 15.5
Image: 1
Detected: true
Specimen Num: 6
GXD Expression    
Probe: MGI:4938184
Assay Type: RT-PCR
Annotation Date: 2011-02-28
Strength: Present
Sex: Male
Emaps: EMAPS:1797221
Stage: TS21
Assay Id: MGI:4939004
Age: embryonic day 13.5
Image: 6
Detected: true
Specimen Num: 7
GXD Expression    
Probe: MGI:4938184
Assay Type: RT-PCR
Annotation Date: 2011-02-25
Strength: Present
Sex: Female
Emaps: EMAPS:1796220
Stage: TS20
Assay Id: MGI:4938189
Age: embryonic day 12.0
Image: 1
Detected: true
Specimen Num: 1
GXD Expression    
Probe: MGI:4938184
Assay Type: RT-PCR
Annotation Date: 2011-02-25
Strength: Present
Sex: Female
Emaps: EMAPS:1796221
Stage: TS21
Assay Id: MGI:4938189
Age: embryonic day 13.5
Image: 1
Detected: true
Specimen Num: 3
GXD Expression    
Probe: MGI:4938184
Assay Type: RT-PCR
Annotation Date: 2011-02-25
Strength: Present
Sex: Female
Emaps: EMAPS:1796223
Stage: TS23
Assay Id: MGI:4938189
Age: embryonic day 15.5
Image: 1
Detected: true
Specimen Num: 5
GXD Expression    
Probe: MGI:4938184
Assay Type: RT-PCR
Annotation Date: 2011-02-28
Strength: Present
Sex: Female
Emaps: EMAPS:1796221
Stage: TS21
Assay Id: MGI:4938997
Age: embryonic day 13.5
Image: 6
Detected: true
Specimen Num: 7
GXD Expression
Probe: MGI:5473408
Assay Type: Immunohistochemistry
Annotation Date: 2013-04-09
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1906126
Pattern: Regionally restricted
Stage: TS26
Assay Id: MGI:5473410
Age: embryonic day 18.5
Image: 1a
Note: Expression is present at the kinocilium transition zone, between the basal body and the axoneme.
Detected: true
Specimen Num: 1
Publication
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
Publication
First Author: Peters T
Year: 2002
Journal: Mamm Genome
Title: The mouse Fused toes (Ft) mutation is the result of a 1.6-Mb deletion including the entire Iroquois B gene cluster.
Volume: 13
Issue: 4
Pages: 186-8
Publication
First Author: Han YG
Year: 2008
Journal: Nat Neurosci
Title: Hedgehog signaling and primary cilia are required for the formation of adult neural stem cells.
Volume: 11
Issue: 3
Pages: 277-84
Publication
First Author: Lewis WR
Year: 2019
Journal: FASEB J
Title: Mks6 mutations reveal tissue- and cell type-specific roles for the cilia transition zone.
Volume: 33
Issue: 1
Pages: 1440-1455
Publication
First Author: Kim B
Year: 2011
Journal: Biol Reprod
Title: The fused toes locus is essential for somatic-germ cell interactions that foster germ cell maturation in developing gonads in mice.
Volume: 84
Issue: 5
Pages: 1024-32
Publication
First Author: Stratigopoulos G
Year: 2008
Journal: Am J Physiol Regul Integr Comp Physiol
Title: Regulation of Fto/Ftm gene expression in mice and humans.
Volume: 294
Issue: 4
Pages: R1185-96
Publication
First Author: Andreu-Cervera A
Year: 2019
Journal: J Neurosci
Title: The Ciliopathy Gene Ftm/Rpgrip1l Controls Mouse Forebrain Patterning via Region-Specific Modulation of Hedgehog/Gli Signaling.
Volume: 39
Issue: 13
Pages: 2398-2415
Publication
First Author: Besse L
Year: 2011
Journal: Development
Title: Primary cilia control telencephalic patterning and morphogenesis via Gli3 proteolytic processing.
Volume: 138
Issue: 10
Pages: 2079-88
Publication
First Author: Lieven O
Year: 2011
Journal: Dev Biol
Title: The Dkk1 dose is critical for eye development.
Volume: 355
Issue: 1
Pages: 124-37
Publication
First Author: Kim B
Year: 2011
Journal: Dev Biol
Title: Primordial germ cell proliferation is impaired in Fused Toes mutant embryos.
Volume: 349
Issue: 2
Pages: 417-26
Publication  
First Author: Liakath-Ali K
Year: 2014
Journal: Nat Commun
Title: Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen.
Volume: 5
Pages: 3540
Publication  
First Author: Najarro EH
Year: 2020
Journal: Development
Title: Dual regulation of planar polarization by secreted Wnts and Vangl2 in the developing mouse cochlea.
Volume: 147
Issue: 19
Publication      
First Author: Mouse Genome Informatics and the Consortium: Deciphering the Mechanisms of Developmental Disorders (DMDD)
Year: 2017
Journal: Database Release
Title: Obtaining and Loading Phenotype Annotations from Deciphering the Mechanisms of Developmental Disorders (DMDD)
Publication
First Author: Perez-Garcia V
Year: 2018
Journal: Nature
Title: Placentation defects are highly prevalent in embryonic lethal mouse mutants.
Volume: 555
Issue: 7697
Pages: 463-468
Publication      
First Author: Mouse Genome Informatics and the Wellcome Trust Sanger Institute Mouse Genetics Project (MGP)
Year: 2011
Journal: Database Release
Title: Obtaining and Loading Phenotype Annotations from the Wellcome Trust Sanger Institute (WTSI) Mouse Resources Portal
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 and the International Mouse Phenotyping Consortium (IMPC)
Year: 2014
Journal: Database Release
Title: Obtaining and Loading Phenotype Annotations from the International Mouse Phenotyping Consortium (IMPC) Database
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Title: Rat to Mouse ISO GO annotation transfer
Publication
First Author: Carninci P
Year: 2005
Journal: Science
Title: The transcriptional landscape of the mammalian genome.
Volume: 309
Issue: 5740
Pages: 1559-63
Publication
First Author: Okazaki Y
Year: 2002
Journal: Nature
Title: Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs.
Volume: 420
Issue: 6915
Pages: 563-73
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: MGD Nomenclature Committee
Year: 1995
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
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2001
Title: Gene Ontology Annotation by the MGI Curatorial Staff
Publication      
First Author: MGI Genome Annotation Group and UniGene Staff
Year: 2015
Journal: Database Download
Title: MGI-UniGene Interconnection Effort
Publication
First Author: Gaudet P
Year: 2011
Journal: Brief Bioinform
Title: Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium.
Volume: 12
Issue: 5
Pages: 449-62
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Title: Human to Mouse ISO GO annotation transfer
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2000
Title: Gene Ontology Annotation by electronic association of SwissProt Keywords with GO terms
Publication
First Author: Diez-Roux G
Year: 2011
Journal: PLoS Biol
Title: A high-resolution anatomical atlas of the transcriptome in the mouse embryo.
Volume: 9
Issue: 1
Pages: e1000582
Publication      
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
Publication      
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome U74 Array Platform (A, B, C v2).
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations
Publication      
First Author: Mouse Genome Database and National Center for Biotechnology Information
Year: 2000
Journal: Database Release
Title: Entrez Gene Load
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
Publication      
First Author: Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI)
Year: 2010
Journal: Database Download
Title: Consensus CDS project
Publication      
First Author: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
Publication      
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
Publication      
First Author: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
Publication      
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 Gene 1.0 ST Array Platform
Publication
First Author: Khanna H
Year: 2009
Journal: Nat Genet
Title: A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
Volume: 41
Issue: 6
Pages: 739-45
Publication
First Author: Coene KL
Year: 2011
Journal: Hum Mol Genet
Title: The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase.
Volume: 20
Issue: 18
Pages: 3592-605
DO Term
DO Term
Allele
Name: Rpgrip1-like; targeted mutation 1, Ulrich Ruther
Allele Type: Targeted
Attribute String: Null/knockout
Publication categories: ProxyCollection
Genotype
Symbol: Rpgrip1l/Rpgrip1l
Background: involves: 129S1/Sv * 129X1/SvJ
Zygosity: hm
Has Mutant Allele: true