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Search results 301 to 400 out of 400 for Pkhd1

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0.051s
Type Details Score
Publication      
First Author: The Australian Phenomics Facility at The Australian National University
Year: 2006
Journal: MGI Direct Data Submission
Title: Heritable mouse mutants from the ENU mutagenesis program at the Australian Phenomics Facility at The Australian National University
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Publication
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        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2003
Title: Data Curation Using Mouse Genome Assembly
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Publication      
First Author: MGI and IMPC
Year: 2018
Journal: Database Release
Title: MGI Load of Endonuclease-Mediated Alleles (CRISPR) from the International Mouse Phenotyping Consortium (IMPC)
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Publication      
First Author: Lennon G
Year: 1999
Journal: Database Download
Title: WashU-HHMI Mouse EST Project
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Publication      
First Author: MGI and IMPC
Year: 2026
Journal: Database Release
Title: MGI Load of Molecular Notes for Endonuclease-Mediated (CRISPR) Alleles from the International Mouse Phenotyping Consortium (IMPC)
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Publication
First Author: Carninci P
Year: 2005
Journal: Science
Title: The transcriptional landscape of the mammalian genome.
Volume: 309
Issue: 5740
Pages: 1559-63
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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
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Publication        
First Author: Cyagen Biosciences Inc.
Year: 2022
Title: Cyagen Biosciences Website.
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Publication        
First Author: GOA curators
Year: 2016
Title: Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
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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
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Publication      
First Author: The Jackson Laboratory Mouse Radiation Hybrid Database
Year: 2004
Journal: Database Release
Title: Mouse T31 Radiation Hybrid Data Load
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Publication        
First Author: GemPharmatech
Year: 2020
Title: GemPharmatech Website.
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Publication        
First Author: The Gene Ontology Consortium
Year: 2010
Title: Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs
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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
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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).
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Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations
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Publication      
First Author: MGI Genome Annotation Group and UniGene Staff
Year: 2015
Journal: Database Download
Title: MGI-UniGene Interconnection Effort
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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
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Publication      
First Author: Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI)
Year: 2010
Journal: Database Download
Title: Consensus CDS project
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Publication      
First Author: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
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Publication      
First Author: Mouse Genome Database and National Center for Biotechnology Information
Year: 2000
Journal: Database Release
Title: Entrez Gene Load
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Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations
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Publication      
First Author: Mouse Genome Informatics and Ensembl Genome Database Project
Year: 2026
Journal: Database Release
Title: MGI Strain Genome Feature and Gene Model Load from Ensembl.
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Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
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Publication      
First Author: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
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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
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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
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Publication      
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
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Publication      
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
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Gene
Type: gene
Organism: frog, western clawed
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Gene
Type: gene
Organism: zebrafish
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Gene
Type: gene
Organism: zebrafish
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Gene
Type: gene
Organism: frog, African clawed
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Gene
Type: gene
Organism: frog, African clawed
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HT Experiment  
Experiment Type: RNA-Seq
Study Type: WT vs. Mutant
Source: GEO
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Interaction Experiment
Description: Role of the hepatocyte nuclear factor-1beta (HNF-1beta) C-terminal domain in Pkhd1 (ARPKD) gene transcription and renal cystogenesis.
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Allele
Name: transgene insertion 1, Peter Igarashi
Allele Type: Transgenic
Attribute String: Recombinase
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Allele
Name: polycystic kidney and hepatic disease 1; endonuclease-mediated mutation 4, Harwell
Allele Type: Endonuclease-mediated
Attribute String: Not Specified
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Publication  
First Author: Kuo IY
Year: 2019
Journal: Sci Signal
Title: Polycystin 2 regulates mitochondrial Ca(2+) signaling, bioenergetics, and dynamics through mitofusin 2.
Volume: 12
Issue: 580
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Genotype
Symbol: Pkd2/Pkd2 Tg(Pkhd1-cre)1Igr/?
Background: Not Specified
Zygosity: cn
Has Mutant Allele: true
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Genotype
Symbol: Pkd2/Pkd2 Tg(Pkhd1-cre)1Igr/?
Background: involves: 129S4/SvJae * C57BL/6
Zygosity: cn
Has Mutant Allele: true
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Genotype
Symbol: Pkd2/Pkd2 Tg(Pkhd1-cre)1Igr/?
Background: involves: C57BL/6
Zygosity: cn
Has Mutant Allele: true
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Genotype
Symbol: Tg(Pkhd1-cre)1Igr/?
Background: involves: C57BL/6
Zygosity: ot
Has Mutant Allele: true
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Genotype
Symbol: Pkd2/Pkd2 Tg(Pkhd1-cre)1Igr/?
Background: Not Specified
Zygosity: cn
Has Mutant Allele: true
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Genotype
Symbol: Snhg5/Snhg5 Tg(Pkhd1-cre)1Igr/?
Background: involves: C57BL/6J
Zygosity: cn
Has Mutant Allele: true
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Publication
First Author: Raman A
Year: 2017
Journal: J Am Soc Nephrol
Title: Integrin-Linked Kinase Signaling Promotes Cyst Growth and Fibrosis in Polycystic Kidney Disease.
Volume: 28
Issue: 9
Pages: 2708-2719
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Genotype
Symbol: Mirc1/Mirc1 Pkd2/Pkd2 Tg(Pkhd1-cre)1Igr/?
Background: involves: 129S4/SvJae * C57BL/6
Zygosity: cn
Has Mutant Allele: true
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Genotype
Symbol: Mir214/Mir214 Pkd2/Pkd2 Tg(Pkhd1-cre)1Igr/?
Background: Not Specified
Zygosity: cn
Has Mutant Allele: true
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Publication
First Author: Sato S
Year: 2023
Journal: J Biol Chem
Title: Human TMEM2 is not a catalytic hyaluronidase, but a regulator of hyaluronan metabolism via HYBID (KIAA1199/CEMIP) and HAS2 expression.
Volume: 299
Issue: 6
Pages: 104826
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Publication
First Author: He QY
Year: 2006
Journal: Bioinformatics
Title: G8: a novel domain associated with polycystic kidney disease and non-syndromic hearing loss.
Volume: 22
Issue: 18
Pages: 2189-91
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Protein Domain
Type: Domain
Description: This entry represents a domain found in disease proteins PKHD1 and CEMIP2 (also known as KIAA1199) and is named G8 after its 8 conserved glycines. It is predicted to contain 10 ��-strands and an ��-helix [, ]. CEMIP2 is an inactive cell surface hyaluronidase that, unlike its mouse orthologue, has no catalytic hyaluronic acid-degrading activity, but acts as a regulator of hyaluronan (HA) metabolism through regulation of expression of CEMIP and HAS2, two enzymes involved in HA depolymerization and HA synthesis, respectively [, ].
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Publication
First Author: Wang Q
Year: 2018
Journal: Kidney Int
Title: Adenylyl cyclase 5 deficiency reduces renal cyclic AMP and cyst growth in an orthologous mouse model of polycystic kidney disease.
Volume: 93
Issue: 2
Pages: 403-415
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Publication
First Author: Zhou X
Year: 2015
Journal: Hum Mol Genet
Title: Therapeutic targeting of BET bromodomain protein, Brd4, delays cyst growth in ADPKD.
Volume: 24
Issue: 14
Pages: 3982-93
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Publication  
First Author: Li LX
Year: 2022
Journal: Cells
Title: Single-Cell and CellChat Resolution Identifies Collecting Duct Cell Subsets and Their Communications with Adjacent Cells in PKD Kidneys.
Volume: 12
Issue: 1
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Publication
First Author: Cao Y
Year: 2009
Journal: Proc Natl Acad Sci U S A
Title: Chemical modifier screen identifies HDAC inhibitors as suppressors of PKD models.
Volume: 106
Issue: 51
Pages: 21819-24
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Genotype
Symbol: Pkd1/Pkd1 Tg(Pkhd1-cre)1Igr/?
Background: involves: C57BL/6 * SJL
Zygosity: cn
Has Mutant Allele: true
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Genotype
Symbol: Snhg5/Snhg5 Pkd1/Pkd1 Tg(Pkhd1-cre)1Igr/?
Background: involves: C57BL/6 * C57BL/6J * SJL
Zygosity: cn
Has Mutant Allele: true
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Genotype
Symbol: Pkd2/Pkd2 Tg(Pkd1)248Som/? Tg(Pkhd1-cre)1Igr/?
Background: involves: C57BL/6J * SJL/J
Zygosity: cn
Has Mutant Allele: true
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Genotype
Symbol: Hnf1b/Hnf1b Tg(Pkhd1-cre)1Igr/?
Background: involves: 129S2/SvPas * C57BL/6
Zygosity: cn
Has Mutant Allele: true
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Genotype
Symbol: Mir21a/Mir21a Pkd2/Pkd2 Tg(Pkhd1-cre)1Igr/?
Background: involves: 129S/SvEv
Zygosity: cn
Has Mutant Allele: true
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Publication
First Author: Ward CJ
Year: 2002
Journal: Nat Genet
Title: The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.
Volume: 30
Issue: 3
Pages: 259-69
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Publication
First Author: Kakade VR
Year: 2016
Journal: J Mol Cell Biol
Title: A cAMP and CREB-mediated feed-forward mechanism regulates GSK3? in polycystic kidney disease.
Volume: 8
Issue: 6
Pages: 464-476
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Publication  
First Author: Grosch M
Year: 2021
Journal: J Cell Sci
Title: A polycystin-2 protein with modified channel properties leads to an increased diameter of renal tubules and to renal cysts.
Volume: 134
Issue: 16
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Publication
First Author: Aboudehen K
Year: 2017
Journal: J Am Soc Nephrol
Title: Hepatocyte Nuclear Factor-1? Regulates Urinary Concentration and Response to Hypertonicity.
Volume: 28
Issue: 10
Pages: 2887-2900
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Publication
First Author: Aboudehen K
Year: 2018
Journal: J Biol Chem
Title: Long noncoding RNA Hoxb3os is dysregulated in autosomal dominant polycystic kidney disease and regulates mTOR signaling.
Volume: 293
Issue: 24
Pages: 9388-9398
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Publication
First Author: Ye H
Year: 2017
Journal: Am J Physiol Renal Physiol
Title: The regulatory 1? subunit of protein kinase A modulates renal cystogenesis.
Volume: 313
Issue: 3
Pages: F677-F686
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Genotype
Symbol: Hoxb3os/Hoxb3os Pkd1/Pkd1 Tg(Pkhd1-cre)1Igr/?
Background: involves: 129S4/SvJae * C57BL/6J
Zygosity: cn
Has Mutant Allele: true
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Protein
Organism: Mus musculus/domesticus
Length: 194  
Fragment?: true
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Publication
First Author: Hogan MC
Year: 2003
Journal: Hum Mol Genet
Title: PKHDL1, a homolog of the autosomal recessive polycystic kidney disease gene, encodes a receptor with inducible T lymphocyte expression.
Volume: 12
Issue: 6
Pages: 685-98
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Publication
First Author: Besse W
Year: 2017
Journal: J Clin Invest
Title: Isolated polycystic liver disease genes define effectors of polycystin-1 function.
Volume: 127
Issue: 5
Pages: 1772-1785
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Publication  
First Author: Niu M
Year: 2023
Journal: Wellcome Open Res
Title: Structure of the transmembrane protein 2 (TMEM2) ectodomain and its apparent lack of hyaluronidase activity.
Volume: 8
Pages: 76
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Publication
First Author: Ferr? S
Year: 2019
Journal: Kidney Int
Title: Renal tubular cell spliced X-box binding protein 1 (Xbp1s) has a unique role in sepsis-induced acute kidney injury and inflammation.
Volume: 96
Issue: 6
Pages: 1359-1373
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Publication  
First Author: Lakhia R
Year: 2020
Journal: JCI Insight
Title: Interstitial microRNA miR-214 attenuates inflammation and polycystic kidney disease progression.
Volume: 5
Issue: 7
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Publication
First Author: Chen L
Year: 2015
Journal: J Clin Invest
Title: Macrophage migration inhibitory factor promotes cyst growth in polycystic kidney disease.
Volume: 125
Issue: 6
Pages: 2399-412
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Publication
First Author: Flowers EM
Year: 2018
Journal: Nat Commun
Title: Lkb1 deficiency confers glutamine dependency in polycystic kidney disease.
Volume: 9
Issue: 1
Pages: 814
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Publication
First Author: Cai Y
Year: 2014
Journal: J Clin Invest
Title: Altered trafficking and stability of polycystins underlie polycystic kidney disease.
Volume: 124
Issue: 12
Pages: 5129-44
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Publication
First Author: D'Amico S
Year: 2026
Journal: Sci Rep
Title: Loss of Snhg5 disrupts cell-cycle regulation without altering cystogenesis in a mouse model of polycystic kidney disease.
Volume: 16
Issue: 1
Pages: 4869
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Publication
First Author: Ishikawa Y
Year: 2019
Journal: J Am Soc Nephrol
Title: Spliced XBP1 Rescues Renal Interstitial Inflammation Due to Loss of Sec63 in Collecting Ducts.
Volume: 30
Issue: 3
Pages: 443-459
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Publication
First Author: Jamadar A
Year: 2025
Journal: J Am Soc Nephrol
Title: Circadian Clock Disruption and Growth of Kidney Cysts in Autosomal Dominant Polycystic Kidney Disease.
Volume: 36
Issue: 3
Pages: 378-392
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Genotype
Symbol: Gt(ROSA)26Sor/Gt(ROSA)26Sor<+> Kif3a/Kif3a<+> Tg(Pkhd1-cre)1Igr/?
Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ
Zygosity: cn
Has Mutant Allele: true
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Publication  
First Author: Hajarnis S
Year: 2017
Journal: Nat Commun
Title: microRNA-17 family promotes polycystic kidney disease progression through modulation of mitochondrial metabolism.
Volume: 8
Pages: 14395
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Publication
First Author: Zhang C
Year: 2021
Journal: J Am Soc Nephrol
Title: Cyclin-Dependent Kinase 1 Activity Is a Driver of Cyst Growth in Polycystic Kidney Disease.
Volume: 32
Issue: 1
Pages: 41-51
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Publication
First Author: Hajarnis S
Year: 2018
Journal: J Am Soc Nephrol
Title: Suppression of microRNA Activity in Kidney Collecting Ducts Induces Partial Loss of Epithelial Phenotype and Renal Fibrosis.
Volume: 29
Issue: 2
Pages: 518-531
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Genotype
Symbol: Gt(ROSA)26Sor/Gt(ROSA)26Sor<+> Kif3a/Kif3a Tg(Pkhd1-cre)1Igr/?
Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ
Zygosity: cn
Has Mutant Allele: true
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Publication
First Author: Patel V
Year: 2008
Journal: Hum Mol Genet
Title: Acute kidney injury and aberrant planar cell polarity induce cyst formation in mice lacking renal cilia.
Volume: 17
Issue: 11
Pages: 1578-90
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Publication
First Author: Shibazaki S
Year: 2008
Journal: Hum Mol Genet
Title: Cyst formation and activation of the extracellular regulated kinase pathway after kidney specific inactivation of Pkd1.
Volume: 17
Issue: 11
Pages: 1505-16
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Publication
First Author: Lakhia R
Year: 2016
Journal: J Am Soc Nephrol
Title: MicroRNA-21 Aggravates Cyst Growth in a Model of Polycystic Kidney Disease.
Volume: 27
Issue: 8
Pages: 2319-30
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Publication    
First Author: Li Y
Year: 2023
Journal: Elife
Title: Inactivation of Invs/Nphp2 in renal epithelial cells drives infantile nephronophthisis like phenotypes in mouse.
Volume: 12
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Publication
First Author: Ma M
Year: 2013
Journal: Nat Genet
Title: Loss of cilia suppresses cyst growth in genetic models of autosomal dominant polycystic kidney disease.
Volume: 45
Issue: 9
Pages: 1004-12
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Protein
Organism: Mus musculus/domesticus
Length: 1383  
Fragment?: false
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Protein
Organism: Mus musculus/domesticus
Length: 1361  
Fragment?: false
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Protein
Organism: Mus musculus/domesticus
Length: 1361  
Fragment?: false
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Protein
Organism: Mus musculus/domesticus
Length: 4059  
Fragment?: false
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Protein
Organism: Mus musculus/domesticus
Length: 4060  
Fragment?: false
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Protein
Organism: Mus musculus/domesticus
Length: 4059  
Fragment?: false
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Publication
First Author: Zhang C
Year: 2024
Journal: Nat Commun
Title: Glis2 is an early effector of polycystin signaling and a target for therapy in polycystic kidney disease.
Volume: 15
Issue: 1
Pages: 3698
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Protein
Organism: Mus musculus/domesticus
Length: 4249  
Fragment?: false
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Protein
Organism: Mus musculus/domesticus
Length: 4249  
Fragment?: false
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Protein
Organism: Mus musculus/domesticus
Length: 4247  
Fragment?: false
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