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Search results 101 to 141 out of 141 for Rpgrip1l

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0.02s
Type Details Score
Publication      
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
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: 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: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
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
Genotype
Symbol: Rpgrip1l/Rpgrip1l
Background: involves: 129S1/Sv * 129X1/SvJ
Zygosity: hm
Has Mutant Allele: true
Allele
Name: FTO alpha-ketoglutarate dependent dioxygenase; targeted mutation 1, Ulrich Ruther
Allele Type: Targeted
Attribute String: Null/knockout
Publication
First Author: Fischer J
Year: 2009
Journal: Nature
Title: Inactivation of the Fto gene protects from obesity.
Volume: 458
Issue: 7240
Pages: 894-8
Publication
First Author: Gulati P
Year: 2013
Journal: Proc Natl Acad Sci U S A
Title: Role for the obesity-related FTO gene in the cellular sensing of amino acids.
Volume: 110
Issue: 7
Pages: 2557-62
Publication
First Author: Carnevali L
Year: 2014
Journal: PLoS One
Title: Signs of cardiac autonomic imbalance and proarrhythmic remodeling in FTO deficient mice.
Volume: 9
Issue: 4
Pages: e95499
Publication
First Author: Spychala A
Year: 2019
Journal: PLoS One
Title: FTO affects hippocampal function by regulation of BDNF processing.
Volume: 14
Issue: 2
Pages: e0211937
Publication
First Author: Boissel S
Year: 2009
Journal: Am J Hum Genet
Title: Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations.
Volume: 85
Issue: 1
Pages: 106-11
Publication
First Author: Tews D
Year: 2013
Journal: Endocrinology
Title: FTO deficiency induces UCP-1 expression and mitochondrial uncoupling in adipocytes.
Volume: 154
Issue: 9
Pages: 3141-51
Genotype
Symbol: Fto/Fto
Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Zygosity: hm
Has Mutant Allele: true
Genotype
Symbol: Fto/Fto<+>
Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Zygosity: ht
Has Mutant Allele: true
Protein
Organism: Mus musculus/domesticus
Length: 289  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 191  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 553  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 91  
Fragment?: true
Publication
First Author: Remans K
Year: 2014
Journal: Cell Rep
Title: C2 domains as protein-protein interaction modules in the ciliary transition zone.
Volume: 8
Issue: 1
Pages: 1-9
Publication
First Author: Arts HH
Year: 2007
Journal: Nat Genet
Title: Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
Volume: 39
Issue: 7
Pages: 882-8
Publication
First Author: Castagnet P
Year: 2003
Journal: Hum Mol Genet
Title: RPGRIP1s with distinct neuronal localization and biochemical properties associate selectively with RanBP2 in amacrine neurons.
Volume: 12
Issue: 15
Pages: 1847-63
Publication
First Author: Devuyst O
Year: 2008
Journal: Nephrol Dial Transplant
Title: Mutations in RPGRIP1L: extending the clinical spectrum of ciliopathies.
Volume: 23
Issue: 5
Pages: 1500-3
Protein Domain
Type: Family
Description: RPGR-interacting protein 1 (RPGRIP1) is mutated in the eye disease Leber congenital amaurosis (LCA) and its structural homologue, RPGRIP1-like (RPGRIP1L, also called NPHP8 or fantom), is mutated in many different ciliopathies [, ]. Both are multidomain proteins that are predicted to interact with retinitis pigmentosa G-protein regulator (RPGR) []. Both consist of an N-terminal coiled coil domain, two C2 domains (C2N and C2C), and a C-terminal RPGR-interacting domain (RID). RID is a C2 domain with a canonical beta sandwich structure that does not bind Ca2+ and/or phospholipids and thus constitutes a unique type of protein-protein interaction module [].Both RPGRIP1 and RPGRIP1L interact with the ciliary transition zone protein nephrocystin 4 (NPHP4) via their C2C domain [, ]. An hypothesis is that RPGRIP1 and RPGRIP1L function as cilium-specific scaffolds that recruit a Nek4 signaling network which regulates cilium stability []. The expression of RPGRIP1 seems to be limited to photoreceptors and amacrine cells in the retina [], whereas RPGRIP1L is found in other tissues as well.
Publication
First Author: Ikels K
Year: 2014
Journal: PLoS One
Title: FTO is a relevant factor for the development of the metabolic syndrome in mice.
Volume: 9
Issue: 8
Pages: e105349
Genotype
Symbol: Fto/Fto Lep/Lep
Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Zygosity: cx
Has Mutant Allele: true
Publication
First Author: Uzquiano A
Year: 2019
Journal: Cell Rep
Title: Mutations in the Heterotopia Gene Eml1/EML1 Severely Disrupt the Formation of Primary Cilia.
Volume: 28
Issue: 6
Pages: 1596-1611.e10
Publication
First Author: Shi X
Year: 2017
Journal: Nat Cell Biol
Title: Super-resolution microscopy reveals that disruption of ciliary transition-zone architecture causes Joubert syndrome.
Volume: 19
Issue: 10
Pages: 1178-1188
Protein
Organism: Mus musculus/domesticus
Length: 71  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 201  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 82  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 295  
Fragment?: true
Publication
First Author: Ruud J
Year: 2019
Journal: Cell Rep
Title: The Fat Mass and Obesity-Associated Protein (FTO) Regulates Locomotor Responses to Novelty via D2R Medium Spiny Neurons.
Volume: 27
Issue: 11
Pages: 3182-3198.e9
Protein
Organism: Mus musculus/domesticus
Length: 1331  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 1126  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 1127  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 1320  
Fragment?: false