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Search results 901 to 1000 out of 1144 for Pkd1

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Type Details Score
Allele
Name: polycystin 1, transient receptor potential channel interacting; targeted mutation 1, Richard Sandford
Allele Type: Targeted
Attribute String: Null/knockout, Reporter
Allele
Name: polycystin 1, transient receptor potential channel interacting; targeted mutation 1, Shigeo Horie
Allele Type: Targeted
Attribute String: Null/knockout
Allele
Name: polycystin 1, transient receptor potential channel interacting; targeted mutation 3.1, Jing Zhou
Allele Type: Targeted
Attribute String: Null/knockout
Allele
Name: polycystin 1, transient receptor potential channel interacting; targeted mutation 1, Dorien JM Peters
Allele Type: Targeted
Attribute String: Conditional ready, Hypomorph
Allele  
Name: polycystin 1, transient receptor potential channel interacting; targeted mutation 1, William Dackowski
Allele Type: Targeted
Allele
Name: polycystin 1, transient receptor potential channel interacting; targeted mutation 1, Gregory G Germino
Allele Type: Targeted
Attribute String: Null/knockout
Allele  
Name: polycystin 1, transient receptor potential channel interacting; targeted mutation 1.1, Peter Harris
Allele Type: Targeted
Allele
Name: polycystin 1, transient receptor potential channel interacting; targeted mutation 1, Jing Zhou
Allele Type: Targeted
Attribute String: Null/knockout
Allele
Name: polycystin 1, transient receptor potential channel interacting; targeted mutation 2.1, Stefan Somlo
Allele Type: Targeted
Attribute String: Null/knockout
Allele
Name: polycystin 1, transient receptor potential channel interacting; targeted mutation 3, Jing Zhou
Allele Type: Targeted
Attribute String: Conditional ready, No functional change
Allele
Name: polycystin 1, transient receptor potential channel interacting; targeted mutation 2, Jing Zhou
Allele Type: Targeted
Attribute String: Null/knockout
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: polycystin 1, transient receptor potential channel interacting; endonuclease-mediated mutation 4, Shanghai Model Organisms Center
Allele Type: Endonuclease-mediated
Attribute String: Conditional ready, No functional change
HT Experiment
Series Id: GSE24352
Experiment Type: transcription profiling by array
Study Type: WT vs. Mutant
Source: ArrayExpress
Transgene
Type: transgene
Organism: mouse, laboratory
Genotype
Symbol: Pkd1/Pkd1
Background: involves: 129P2/OlaHsd * C57BL/6
Zygosity: hm
Has Mutant Allele: true
Genotype
Symbol: Pkd1/Pkd1
Background: either: (involves: 129S4/SvJae * C57BL/6) or (involves: 129S4/SvJae * BALB/c)
Zygosity: hm
Has Mutant Allele: true
Genotype
Symbol: Pkd1/Pkd1<+>
Background: either: (involves: 129S4/SvJae * C57BL/6) or (involves: 129S4/SvJae * BALB/c)
Zygosity: ht
Has Mutant Allele: true
Genotype
Symbol: Pkd1/Pkd1<+>
Background: involves: 129S4/SvJaeSor
Zygosity: ht
Has Mutant Allele: true
Genotype
Symbol: Pkd1/Pkd1
Background: Not Specified
Zygosity: hm
Has Mutant Allele: true
Genotype
Symbol: Pkd1/Pkd1
Background: involves: 129S4/SvJae * Black Swiss * C57BL/6
Zygosity: hm
Has Mutant Allele: true
Genotype
Symbol: Pkd1/Pkd1 Tg(MMTV-cre)4Mam/?
Background: involves: 129S4/SvJae * FVB
Zygosity: cn
Has Mutant Allele: true
Genotype
Symbol: Pkd1/Pkd1
Background: either: (involves: 129S4/SvJae * BALB/c) or (involves: 129S4/SvJae * C57BL/6)
Zygosity: hm
Has Mutant Allele: true
Genotype
Symbol: Pkd1/Pkd1<+>
Background: either: (involves: 129S4/SvJae * BALB/c) or (involves: 129S4/SvJae * C57BL/6)
Zygosity: ht
Has Mutant Allele: true
Genotype
Symbol: Pkd1/Pkd1<+>
Background: involves: 129S1/Sv * 129X1/SvJ
Zygosity: ht
Has Mutant Allele: true
Genotype
Symbol: Pkd1/Pkd1 Tg(Cdh16-cre)91Igr/?
Background: involves: C57BL/6 * ICR * SJL
Zygosity: cn
Has Mutant Allele: true
Genotype
Symbol: Pkd1/Pkd1 Tg(Ggt1-cre)M3Egn/?
Background: involves: 129P2/OlaHsd * C57BL/6 * SJL
Zygosity: cn
Has Mutant Allele: true
Genotype
Symbol: Pkd1/Pkd1
Background: involves: 129P2/OlaHsd * C57BL/6
Zygosity: hm
Has Mutant Allele: true
Genotype
Symbol: Pkd1/Pkd1
Background: involves: 129S4/SvJae * C57BL/6
Zygosity: hm
Has Mutant Allele: true
Genotype
Symbol: Pkd1/Pkd1 Gt(ROSA)26Sor/Gt(ROSA)26Sor<+>
Background: involves: 129S/Sv * 129S7/SvEvBrd * C57BL/6
Zygosity: cn
Has Mutant Allele: true
Genotype
Symbol: Pkd1/Pkd1 Tg(Nes-cre)Wme/?
Background: involves: 129S4/SvJae * C57BL/6 * CBA
Zygosity: cn
Has Mutant Allele: true
Genotype
Symbol: Pkd1/Pkd1
Background: involves: 129S1/Sv * C57BL/6
Zygosity: hm
Has Mutant Allele: true
Genotype
Symbol: Pkd1/Pkd1
Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6
Zygosity: ht
Has Mutant Allele: true
Genotype
Symbol: Pkd1/Pkd1 Tg(Col1a1-cre)1Bek/?
Background: involves: 129S4/SvJae * CD-1
Zygosity: cn
Has Mutant Allele: true
Genotype
Symbol: Pkd1/Pkd1 Tg(Hoxb7-cre)13Amc/?
Background: involves: 129S4/SvJae * C57BL/6
Zygosity: cn
Has Mutant Allele: true
Genotype
Symbol: Pkd1/Pkd1 Tg(Cdh16-cre)91Igr/?
Background: involves: 129S4/SvJae * C57BL/6 * ICR
Zygosity: cn
Has Mutant Allele: true
Genotype
Symbol: Pkd1/Pkd1 Tg(Cdh16-cre)91Igr/?
Background: involves: 129 * 129S4/SvJae * C57BL/6 * ICR
Zygosity: cn
Has Mutant Allele: true
HT Experiment  
Experiment Type: RNA-Seq
Study Type: WT vs. Mutant
Source: GEO
HT Sample
Organism Name: mouse, laboratory
Sex: Not Specified
Age: embryonic day 14.5
Stage: 22
Structure . Name: metanephros
Notes: Two alleles were created in the paper referenced for the Pkd1 allele; these authors did not specify which was used for these array studies. It is possible this embryo carried the Pkd1 allele instead.
Curation Status: Curated
HT Sample
Organism Name: mouse, laboratory
Sex: Not Specified
Age: embryonic day 14.5
Stage: 22
Structure . Name: metanephros
Notes: Two alleles were created in the paper referenced for the Pkd1 allele; these authors did not specify which was used for these array studies. It is possible this embryo carried the Pkd1 allele instead.
Curation Status: Curated
HT Sample
Organism Name: mouse, laboratory
Sex: Not Specified
Age: embryonic day 14.5
Stage: 22
Structure . Name: metanephros
Notes: Two alleles were created in the paper referenced for the Pkd1 allele; these authors did not specify which was used for these array studies. It is possible this embryo carried the Pkd1 allele instead.
Curation Status: Curated
HT Sample
Organism Name: mouse, laboratory
Sex: Not Specified
Age: embryonic day 17.5
Stage: 25
Structure . Name: metanephros
Notes: Two alleles were created in the paper referenced for the Pkd1 allele; these authors did not specify which was used for these array studies. It is possible this embryo carried the Pkd1 allele instead.
Curation Status: Curated
HT Sample
Organism Name: mouse, laboratory
Sex: Not Specified
Age: embryonic day 17.5
Stage: 25
Structure . Name: metanephros
Notes: Two alleles were created in the paper referenced for the Pkd1 allele; these authors did not specify which was used for these array studies. It is possible this embryo carried the Pkd1 allele instead.
Curation Status: Curated
HT Sample
Organism Name: mouse, laboratory
Sex: Not Specified
Age: embryonic day 17.5
Stage: 25
Structure . Name: metanephros
Notes: Two alleles were created in the paper referenced for the Pkd1 allele; these authors did not specify which was used for these array studies. It is possible this embryo carried the Pkd1 allele instead.
Curation Status: Curated
Allele
Name: kinesin family member 3A; targeted mutation 2, Lawrence SB Goldstein
Allele Type: Targeted
Attribute String: Conditional ready, No functional change
Allele  
Name: polycystin 1, transient receptor potential channel interacting; Bench to Bassinet Program (B2B/CVDC), mutation 1585 Cecilia Lo
Allele Type: Chemically induced (ENU)
Strain
Attribute String: coisogenic, mutant strain, endonuclease-mediated mutation
Genotype
Symbol: Pkd1/Pkd1
Background: C57BL/6J-Pkd1
Zygosity: hm
Has Mutant Allele: true
HT Experiment  
Experiment Type: RNA-Seq
Study Type: WT vs. Mutant
Source: GEO
Strain
Attribute String: congenic, mutant strain, targeted mutation
Genotype
Symbol: Pkd1/Pkd1
Background: B6.129S6-Pkd1
Zygosity: hm
Has Mutant Allele: true
Genotype
Symbol: Gpsm1/Gpsm1<+> Pkd1/Pkd1
Background: involves: 129S6/SvEvTac
Zygosity: cx
Has Mutant Allele: true
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 [, , ].
HT Experiment  
Experiment Type: RNA-Seq
Study Type: WT vs. Mutant
Source: ArrayExpress
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: 584  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 553  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 553  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 681  
Fragment?: true
Publication
First Author: Zhang T
Year: 2016
Journal: Cell Cycle
Title: PKD3 deficiency causes alterations in microtubule dynamics during the cell cycle.
Volume: 15
Issue: 14
Pages: 1844-54
Publication
First Author: Parra M
Year: 2007
Journal: Genes Dev
Title: Myosin phosphatase dephosphorylates HDAC7, controls its nucleocytoplasmic shuttling, and inhibits apoptosis in thymocytes.
Volume: 21
Issue: 6
Pages: 638-43
Publication
First Author: Callen DF
Year: 1989
Journal: Genomics
Title: Mapping the short arm of human chromosome 16.
Volume: 4
Issue: 3
Pages: 348-54
Publication
First Author: Van Raay TJ
Year: 1996
Journal: Genomics
Title: A novel ribosomal protein L3-like gene (RPL3L) maps to the autosomal dominant polycystic kidney disease gene region.
Volume: 37
Issue: 2
Pages: 172-6
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
Publication
First Author: Hughes J
Year: 1999
Journal: Hum Mol Genet
Title: Identification of a human homologue of the sea urchin receptor for egg jelly: a polycystic kidney disease-like protein.
Volume: 8
Issue: 3
Pages: 543-9
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
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: Mochizuki T
Year: 1996
Journal: Science
Title: PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein.
Volume: 272
Issue: 5266
Pages: 1339-42
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
Protein Domain
Type: Domain
Description: The REJ (Receptor for Egg Jelly) domain is found in PKD1 and the sperm receptor for egg jelly []. The exact function of this domain is unknown. The domain is 600 amino acids long so is probably composed of multiple structural domains. There are six completely conserved cysteine residues that may form disulphide bridges. This region contains tandem PKD-like domains.Sequence similarity between a region of the autosomal dominant polycystic kidney disease (ADPKD) protein, polycystin-1 and a sea urchin sperm glycoprotein involved in fertilization, the receptor for egg jelly (suREJ) has been known for some time. The suREJ protein binds the glycoprotein coat of the egg (egg jelly), triggering the acrosomereaction, which transforms the sperm into a fusogenic cell. The sequence similarity and expression pattern suggests that the predicted human PKDREJ protein is a mammalian equivalent of the suREJ protein and therefore may have a central role in human fertilization [].
Publication
First Author: Hughes J
Year: 1995
Journal: Nat Genet
Title: The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains.
Volume: 10
Issue: 2
Pages: 151-60
Publication
First Author: Sumara G
Year: 2009
Journal: Cell
Title: Regulation of PKD by the MAPK p38delta in insulin secretion and glucose homeostasis.
Volume: 136
Issue: 2
Pages: 235-48
Publication
First Author: Kim S
Year: 2016
Journal: Nat Cell Biol
Title: The polycystin complex mediates Wnt/Ca(2+) signalling.
Volume: 18
Issue: 7
Pages: 752-764
Publication
First Author: Nagano J
Year: 2005
Journal: Biochem Biophys Res Commun
Title: Fibrocystin interacts with CAML, a protein involved in Ca2+ signaling.
Volume: 338
Issue: 2
Pages: 880-9
Publication
First Author: Pennekamp P
Year: 1998
Journal: Mamm Genome
Title: Characterization of the murine polycystic kidney disease (Pkd2) gene.
Volume: 9
Issue: 9
Pages: 749-52
Publication
First Author: Ngok SP
Year: 2012
Journal: J Cell Biol
Title: VEGF and Angiopoietin-1 exert opposing effects on cell junctions by regulating the Rho GEF Syx.
Volume: 199
Issue: 7
Pages: 1103-15
Publication  
First Author: Avriyanti E
Year: 2015
Journal: Neurosci Res
Title: Functional redundancy of protein kinase D1 and protein kinase D2 in neuronal polarity.
Volume: 95
Pages: 12-20
Publication
First Author: Park JE
Year: 2009
Journal: J Immunol
Title: Protein kinase D1 is essential for MyD88-dependent TLR signaling pathway.
Volume: 182
Issue: 10
Pages: 6316-27
Publication
First Author: Lantinga-van Leeuwen IS
Year: 2006
Journal: Genesis
Title: Transgenic mice expressing tamoxifen-inducible Cre for somatic gene modification in renal epithelial cells.
Volume: 44
Issue: 5
Pages: 225-32
Publication  
First Author: Liou GY
Year: 2015
Journal: Nat Commun
Title: Protein kinase D1 drives pancreatic acinar cell reprogramming and progression to intraepithelial neoplasia.
Volume: 6
Pages: 6200
Publication
First Author: Li X
Year: 2008
Journal: Nat Med
Title: A tumor necrosis factor-alpha-mediated pathway promoting autosomal dominant polycystic kidney disease.
Volume: 14
Issue: 8
Pages: 863-8
Publication
First Author: White DP
Year: 2007
Journal: J Cell Biol
Title: alpha v beta3 and alpha5beta1 integrin recycling pathways dictate downstream Rho kinase signaling to regulate persistent cell migration.
Volume: 177
Issue: 3
Pages: 515-25
Publication
First Author: Germino GG
Year: 1990
Journal: Am J Hum Genet
Title: Identification of a locus which shows no genetic recombination with the autosomal dominant polycystic kidney disease gene on chromosome 16.
Volume: 46
Issue: 5
Pages: 925-33
Publication
First Author: Medeiros RB
Year: 2005
Journal: Immunity
Title: Protein kinase D1 and the beta 1 integrin cytoplasmic domain control beta 1 integrin function via regulation of Rap1 activation.
Volume: 23
Issue: 2
Pages: 213-26
Publication
First Author: Oster H
Year: 2006
Journal: Gene Expr Patterns
Title: Expression of the protein kinase D (PKD) family during mouse embryogenesis.
Volume: 6
Issue: 4
Pages: 400-8
Publication
First Author: Park JE
Year: 2008
Journal: J Immunol
Title: Protein kinase D1: a new component in TLR9 signaling.
Volume: 181
Issue: 3
Pages: 2044-55
Publication
First Author: Lee EC
Year: 2019
Journal: Nat Commun
Title: Discovery and preclinical evaluation of anti-miR-17 oligonucleotide RGLS4326 for the treatment of polycystic kidney disease.
Volume: 10
Issue: 1
Pages: 4148
Publication
First Author: Kraus A
Year: 2016
Journal: Purinergic Signal
Title: P2Y2R is a direct target of HIF-1α and mediates secretion-dependent cyst growth of renal cyst-forming epithelial cells.
Volume: 12
Issue: 4
Pages: 687-695
Protein
Organism: Mus musculus/domesticus
Length: 966  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 760  
Fragment?: false