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Search results 501 to 600 out of 693 for Pkd2

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Type Details Score
Publication
First Author: Stryke D
Year: 2003
Journal: Nucleic Acids Res
Title: BayGenomics: a resource of insertional mutations in mouse embryonic stem cells.
Volume: 31
Issue: 1
Pages: 278-81
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: Hansen GM
Year: 2008
Journal: Genome Res
Title: Large-scale gene trapping in C57BL/6N mouse embryonic stem cells.
Volume: 18
Issue: 10
Pages: 1670-9
Publication      
First Author: Helmholtz Zentrum Muenchen GmbH
Year: 2010
Journal: MGI Direct Data Submission
Title: Alleles produced for the EUCOMM and EUCOMMTools projects by the Helmholtz Zentrum Muenchen GmbH (Hmgu)
Publication        
First Author: The Gene Ontology Consortium
Year: 2014
Title: Automated transfer of experimentally-verified manual GO annotation data to mouse-rat orthologs
Publication        
First Author: UniProt-GOA
Year: 2012
Title: Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
Publication
First Author: Magdaleno S
Year: 2006
Journal: PLoS Biol
Title: BGEM: an in situ hybridization database of gene expression in the embryonic and adult mouse nervous system.
Volume: 4
Issue: 4
Pages: e86
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2003
Title: MGI Sequence Curation Reference
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: 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: GemPharmatech
Year: 2020
Title: GemPharmatech Website.
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: Cyagen Biosciences Inc.
Year: 2022
Title: Cyagen Biosciences Website.
Publication        
First Author: AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators
Year: 2011
Title: Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
Publication        
First Author: GOA curators
Year: 2016
Title: Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
Publication      
First Author: The Jackson Laboratory Mouse Radiation Hybrid Database
Year: 2004
Journal: Database Release
Title: Mouse T31 Radiation Hybrid Data Load
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: The Gene Ontology Consortium
Year: 2010
Title: Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations
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: Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas
Year: 2010
Title: Annotation inferences using phylogenetic trees
Publication      
First Author: Mouse Genome Database and National Center for Biotechnology Information
Year: 2000
Journal: Database Release
Title: Entrez Gene Load
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 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 (MGI) and The National Center for Biotechnology Information (NCBI)
Year: 2010
Journal: Database Download
Title: Consensus CDS project
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: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations
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: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
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 Genome 430 2.0 Array Platform
HT Experiment  
Experiment Type: RNA-Seq
Study Type: WT vs. Mutant
Source: GEO
Publication
First Author: Gallagher AR
Year: 2000
Journal: Proc Natl Acad Sci U S A
Title: The polycystic kidney disease protein PKD2 interacts with Hax-1, a protein associated with the actin cytoskeleton.
Volume: 97
Issue: 8
Pages: 4017-22
Allele
Name: transgene insertion, Han-Woong Lee
Allele Type: Transgenic
Attribute String: Inserted expressed sequence
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Genotype
Symbol: Tg(CAG-PKD2)#Hwl/?
Background: involves: FVB/NJ
Zygosity: ot
Has Mutant Allele: true
Protein
Organism: Mus musculus/domesticus
Length: 127  
Fragment?: false
Allele
Name: polycystin 2, transient receptor potential cation channel; targeted mutation 1, Stefan Somlo
Allele Type: Targeted
Attribute String: Hypomorph
Allele
Name: polycystin 2, transient receptor potential cation channel; targeted mutation 2, Stefan Somlo
Allele Type: Targeted
Attribute String: Null/knockout
Allele
Name: polycystin 2, transient receptor potential cation channel; targeted mutation 1, Bernd Dworniczak
Allele Type: Targeted
Attribute String: Null/knockout, Reporter
Allele
Name: polycystin 2, transient receptor potential cation channel; targeted mutation 3, Stefan Somlo
Allele Type: Targeted
Attribute String: Conditional ready, No functional change
Publication
First Author: Audrézet MP
Year: 2012
Journal: Hum Mutat
Title: Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients.
Volume: 33
Issue: 8
Pages: 1239-50
Allele
Name: transgene insertion 75, Hiroshi Hamada
Allele Type: Transgenic
Attribute String: Inserted expressed sequence, Reporter
Allele
Name: transgene insertion 101, Hiroshi Hamada
Allele Type: Transgenic
Attribute String: Inserted expressed sequence, Reporter
Allele
Name: transgene insertion 3, Hiroshi Hamada
Allele Type: Transgenic
Attribute String: Inserted expressed sequence, Reporter
GXD Expression    
Assay Type: In situ reporter (knock in)
Annotation Date: 2024-04-16
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1607511
Pattern: Regionally restricted
Stage: TS11
Assay Id: MGI:7621216
Age: embryonic day 7.75
Note: GFP fluorescence was detected in central node monocilia. Central, motile monocilia were labeled for both Pkd2 and Dnah11-GFP reporter. Peripheral, immotile cilia were labeled exclusively for Pkd2.
Specimen Label: 5B
Detected: true
Specimen Num: 13
Transgene
Type: transgene
Organism: mouse, laboratory
Genotype
Symbol: Pkd2/Pkd2
Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)
Zygosity: hm
Has Mutant Allele: true
Genotype
Symbol: Pkd2/Pkd2
Background: involves: 129/Sv * C57BL/6J * SJL
Zygosity: hm
Has Mutant Allele: true
Genotype
Symbol: Pkd2/Pkd2<+>
Background: involves: 129/Sv * C57BL/6J * SJL
Zygosity: ht
Has Mutant Allele: true
Genotype
Symbol: Pkd2/Pkd2
Background: involves: 129/Sv * C57BL/6J * SJL
Zygosity: hm
Has Mutant Allele: true
Genotype
Symbol: Pkd2/Pkd2<+>
Background: involves: 129/Sv * C57BL/6J * SJL
Zygosity: ht
Has Mutant Allele: true
Genotype
Symbol: Pkd2/Pkd2
Background: involves: 129/Sv * C57BL/6J * SJL
Zygosity: ht
Has Mutant Allele: true
Genotype
Symbol: Pkd2/Pkd2 Tg(Pkhd1-cre)1Igr/?
Background: involves: 129S4/SvJae * C57BL/6
Zygosity: cn
Has Mutant Allele: true
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Strain
Attribute String: mutant stock, transgenic
Allele
Name: transgene insertion 1, Hiroshi Hamada
Allele Type: Transgenic
Attribute String: Inserted expressed sequence, Reporter
Allele
Name: transgene insertion 1, Hiroshi Hamada
Allele Type: Transgenic
Attribute String: Inserted expressed sequence, Reporter
Allele
Name: transgene insertion 1, Bradley K Yoder
Allele Type: Transgenic
Attribute String: Knockdown
Strain
Attribute String: mutant strain, congenic, transgenic
Strain
Attribute String: mutant strain, congenic, transgenic
Strain
Attribute String: mutant strain, congenic, transgenic
Strain
Attribute String: mutant strain, congenic, transgenic
Strain
Attribute String: coisogenic, transgenic, mutant strain
Publication      
First Author: Yoder BK
Year: 2024
Journal: MGI Direct Data Submission
Title: Direct Data Submission Tg-Pkd2-2xgRNA.
Protein Domain
Type: Family
Description: This entry includes flavin carrier proteins Flc1-3 from budding yeasts and Pkd2 from fission yeasts. They are transient receptor potential channel-like proteins. Flc1 may be responsible for the transport of FAD into the endoplasmatic reticulum lumen, where it is required for oxidative protein folding []. Pkd2 acts as a key signaling component in the regulation of cell shape and cell wall synthesis through interaction with GTPase Rho1 [].
Allele
Name: transgene insertion, Isabelle A Leclercq
Allele Type: Transgenic
Attribute String: Inducible, Recombinase
Protein
Organism: Mus musculus/domesticus
Length: 237  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 96  
Fragment?: true
Protein Domain
Type: Domain
Description: This entry represents the polycystin domain from group II of Transient receptor potential (TRP) channels (TRPP) including PKD1, PKD2 and PKD2L. The polycystin domain displays a sandwich-like shape with five β-sheets in the tilted middle layer, three α-helices on one side, and a large loop with two short antiparallel β-sheets on the other [].
Protein Domain
Type: Domain
Description: This domain is distantly similar to MD-2-related lipid-recognition domain () and conserves its pattern of conserved cysteines. This suggests that this domain may be involved in lipid binding. Proteins containing this domain include flavin carrier protein 1/2 from budding yeasts []and TRP-like ion channel pkd2 from fission yeasts [].
HT Experiment
Series Id: GSE58833
Experiment Type: RNA-Seq
Study Type: WT vs. Mutant
Source: ArrayExpress
HT Experiment  
Experiment Type: RNA-Seq
Study Type: WT vs. Mutant
Source: GEO
Protein
Organism: Mus musculus/domesticus
Length: 199  
Fragment?: true
Publication
First Author: Bassi MT
Year: 2000
Journal: Am J Hum Genet
Title: Cloning of the gene encoding a novel integral membrane protein, mucolipidin-and identification of the two major founder mutations causing mucolipidosis type IV.
Volume: 67
Issue: 5
Pages: 1110-20
Publication
First Author: LaPlante JM
Year: 2002
Journal: FEBS Lett
Title: Identification and characterization of the single channel function of human mucolipin-1 implicated in mucolipidosis type IV, a disorder affecting the lysosomal pathway.
Volume: 532
Issue: 1-2
Pages: 183-7
Publication
First Author: Raychowdhury MK
Year: 2004
Journal: Hum Mol Genet
Title: Molecular pathophysiology of mucolipidosis type IV: pH dysregulation of the mucolipin-1 cation channel.
Volume: 13
Issue: 6
Pages: 617-27
Protein Domain
Type: Domain
Description: Polycystic kidney diseases (PKD) are disorders characterised by large numbers of cysts distributed throughout grossly-enlarged kidneys. Cystdevelopment is associated with impairment of kidney function, and ultimately kidney failure and death [, ]. Most cases of autosomal dominant PKD result from mutations in the PKD1 gene that cause premature protein termination. A second gene for autosomal dominant polycystic kidney disease has been identified by positional cloning []. The predicted 968-amino acid sequence of the PKD2 gene product (polycystin-2) contains 6 transmembrane domains, with intracellular N- and C-termini. Polycystin-2 shares some similarity with the family of voltage-activated calcium (and sodium) channels, and contains a potential calcium-binding domain [].Polycystin-2 is strongly expressed in ovary, foetal and adult kidney, testis, and small intestine. Polycystin-1 requires the presence of this protein for stable expression and is believed to interact with it via its C terminus. All mutations between exons 1 and 11 result in a truncated polycystin-2 that lacks a calcium-binding EF-hand domain and the cytoplasmic domains required for the interaction of polycystin-2 with polycystin-1 []. PKD2, although clinically milder than PKD1, has a deleterious impact on life expectancy.This entry contains proteins belonging to the polycystin family including Mucolipin and Polycystin-1 and -2 (PKD1 and PKD2). The domain contains the cation channel region of PKD1 and PKD2 proteins. PKD1 and PKD2 may function through a common signalling pathway that is necessary for normal tubulogenesis. The PKD2 gene product has six transmembrane spans with intracellular amino- and carboxyl-termini [].Mucolipin is a cationic channel which probably plays a role in the endocytic pathway and in the control of membrane trafficking of proteins and lipids. It could play a major role in the calcium ion transport regulating lysosomal exocytosis [, , ].
Publication
First Author: Palmer CP
Year: 2005
Journal: Biochem J
Title: A microbial TRP-like polycystic-kidney-disease-related ion channel gene.
Volume: 387
Issue: Pt 1
Pages: 211-9
Publication
First Author: Protchenko O
Year: 2006
Journal: J Biol Chem
Title: A screen for genes of heme uptake identifies the FLC family required for import of FAD into the endoplasmic reticulum.
Volume: 281
Issue: 30
Pages: 21445-57
Protein
Organism: Mus musculus/domesticus
Length: 584  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 681  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 621  
Fragment?: false
Publication
First Author: Su Q
Year: 2018
Journal: Nat Commun
Title: Cryo-EM structure of the polycystic kidney disease-like channel PKD2L1.
Volume: 9
Issue: 1
Pages: 1192
Protein
Organism: Mus musculus/domesticus
Length: 520  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 816  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 621  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 553  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 566  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 580  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 566  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 553  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 553  
Fragment?: false
Publication
First Author: Davisson MT
Year: 1991
Journal: Genomics
Title: The mouse polycystic kidney disease mutation (cpk) is located on proximal chromosome 12.
Volume: 9
Issue: 4
Pages: 778-81
Protein
Organism: Mus musculus/domesticus
Length: 265  
Fragment?: true
Publication
First Author: Ward CJ
Year: 1996
Journal: Proc Natl Acad Sci U S A
Title: Polycystin, the polycystic kidney disease 1 protein, is expressed by epithelial cells in fetal, adult, and polycystic kidney.
Volume: 93
Issue: 4
Pages: 1524-8
Publication
First Author: Veldhuisen B
Year: 1997
Journal: Am J Hum Genet
Title: A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2).
Volume: 61
Issue: 3
Pages: 547-55
Publication
First Author: Español-Suñer R
Year: 2012
Journal: Gastroenterology
Title: Liver progenitor cells yield functional hepatocytes in response to chronic liver injury in mice.
Volume: 143
Issue: 6
Pages: 1564-1575.e7
Publication  
First Author: Lesaffer B
Year: 2019
Journal: Cells
Title: Comparison of the Opn-CreER and Ck19-CreER Drivers in Bile Ducts of Normal and Injured Mouse Livers.
Volume: 8
Issue: 4
Genotype
Symbol: Gt(ROSA)26Sor/Gt(ROSA)26Sor<+> Tg(Spp1-icre/ERT2)#Lecl/?
Background: involves: 129X1/SvJ
Zygosity: cn
Has Mutant Allele: true