Property Summary

NCBI Gene PubMed Count 218
PubMed Score 458.56
PubTator Score 975.48

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
Pick disease -1.100 1.8e-04
pituitary cancer -1.100 1.5e-03

Gene RIF (158)

PMID Text
26775353 and MMP9 expression in PKD1 constitutively-active MD-MB-231 cells and MCF-7 knockdown cells were decreased and increased respectively
26764245 Overexpression of PKD1 in a prostate cancer cell line model resulted in decreased cell proliferation and epithelial mesenchymal transition.
26286632 PCs expression and p53 activation as a regulator of cell proliferation were further evaluated in vivo and in 69 advanced human carotid atherosclerotic plaques.
26139440 These results suggest that, at least in some patients, the severity of the cystic disease is inversely correlated with the level of polycystin 1 function.
26096820 Host cortactin, PKD1 and actin are recruited by Trypanosoma cruzi extracellular amastigotes based on experiments in fixed and live cells by time lapse confocal microscopy.
25880449 PKD1 gene variation plays a disease modifying role in patients diagnosed with ADPKD.
25757501 A substantial number of PKD1 missense or synonymous mutations characterize pre-mRNA splicing. One missense and 2 synonymous mutations induce significant defects in pre-mRNA splicing.
25741140 Report novel nonsense mutation in exon 15 of PKD1 in polycystic liver disease.
25531466 Four novel PKD1 variants were identified in this study in autosomal-dominant polycystic kidney disease using long-range PCR followed by nested PCR
25491204 Study expands the spectra of mutations in the PKD1 and PKD2 genes and shows that the mutation frequencies of these genes in Korean patients with autosomal dominant polycystic kidney disease are similar to those reported in other ethnicities.
25367197 Both polycystins were detected on the spindle and mid-body of mitotic cells, while fibrocystin was on centrosome throughout cell cycle.
25365220 The results of this study demonstrate that PC1 trafficking and expression require GPS cleavage and PC2 interaction, respectively, and provide a framework for functional assays to categorize the effects of missense mutations in polycystins.
25355409 A short segment of chromosome 16 encodes the tumor suppressor gene tuberin as well as the protein polycystin 1 which are responsible for tuberous sclerosis complex type 2 and autosomal-dominant polycystic kidney disease type 1, respectively.
25287328 Data indicate that serine/threonine-protein kinase D1 (PKD1) stimulates estrogen receptor alpha (ERalpha) expression in breast cancer MCF-7 cells.
25203322 The PKD1-FBXO11-SNAIL axis is a mechanism of posttranslational regulation of epithelial-mesenchymal transition and cancer metastasis.
25180832 polycystins are necessary for assembly of a novel flotillin-containing ciliary signaling complex and provide a molecular rationale for the common renal pathologies caused by OFD1 and polycystin mutations.
25128071 p38 MAPK-regulated PKD1/CREB/Bcl-2 pathway contributes to selenite-induced colorectal cancer cell apoptosis
25123959 Polycystin-1 and polycystin-2 are involved in the acquisition of aggressive phenotypes in colorectal cancer.
25111597 Case Report: polycystic kidney disease with steatocystoma multiplex. PKD1 mutations disrupt keratin 17 polymerization.
24939912 Results suggest that PC1 is a BBSome cargo and that the components of the BBSome may possess subunit-specific functions.
24925719 PKD1 and PKD2 mutations disrupt the function of these proteins on the primary cilium, forming fluid filled cysts in the kidney.
24907393 Defective pre-mRNA splicing in PKD1 due to presumed missense and synonymous mutations causing autosomal dominant polycystic disease.
24821069 A novel frame-shift mutation, c. 12605_12632del28, in the PKD1 gene was found in a Chinese autosomal-dominant polycystic kidney disease family.
24707946 PKD1 knockdown was found to be an efficient strategy to overcome resistance caused by LMP1 expression. Therefore, PKD1 could be a molecular target for therapeutic intervention in EBV-associated B cell lymphoma treatment.
24694054 Probable pathogenic mutations in the PKD1 gene were detected in patients with autosomal dominant polycystic kidney disease.
24683199 Two novel gross deletions of TSC2 gene in Malay patients with tuberous sclerosis complex and TSC2/PKD1 contiguous gene deletion syndrome, respectively.
24611717 mutations within PKD1 and PKD2 can be linked to most of the cases of Japanese ADPKD, and the renal function decline was faster in patients with PKD1 mutations than in those with PKD2 mutations
24575920 PKD1:c.12444 + 1G > A definitely destroyed the native splice site and created a novel donor site with truncating effect on PC1. In contrast, PKD1:c.12444G > A mainly weakened the site and decreased the expression of normal PC1.
24491980 Polycystin-1 is a master regulator of intersecting cystic pathways. [review]
24416790 The PC1 function on JAK2 and ERK signaling pathways might be regulated by calpains in response to the changes in intracellular calcium concentration.
24385601 PC1 modulates actin cytoskeleton rearrangements and directional cell migration through the Pacsin 2/N-Wasp complex.
24193408 Our data reveal for the first time differences between TRPP1 and TRPP2 deficiency
24189120 endothelial progenitor cells involved in the angiogenesis might be controlled by VEGF-PKD1-HDAC7 axis, which regulates the EPCs angiogenesis by PKD1, but not the ERK and PI3K pathway
24009235 Polycystin (PC)1 regulates ciliary PC2 protein expression levels.
23985799 PKD1-truncating mutations have a trend toward earlier initiation of dialysis (52 years vs 57 years, P=0.061), a family history of dialysis before 55 years was more common in PKD1 patients than in others (P<0.05).
23850273 [Review] The physiological performance of G-protein receptors and PKD1-like proteins is thought to be regulated through a proteolysis site, but it is debated how.
23848298 Polycystin-2 inducing the conformational change in polycystin-1 does not require stable interaction between the two proteins.
23624871 Biallelic inheritance of abnormalities of PKD1 may cause extremely severe disease resembling autosomal recessive polycystic kidney disease
23567275 An antagonistic relationship exists between PKD1 and PKD2 proteins.
23496908 In a family with autosomal dominant polycystic kidney disease, the severe clinical course was caused by a frameshift mutation in PKD1.
23475492 We conclude that none of the discovered changes in the PKD1 gene had any effect on clinical phenotype of autosomal dominant polycystic kidney disease in Poland.
23439951 Expression of the human Pkd1 extracellular domain in mouse progressively developed polycystic kidney disease.
23431742 Polycystin 1 gene is associated with an allelic heterogeneity with different mutations.
23431072 the type of PKD1 mutation, but not its position, correlated strongly with renal survivalin autosomal dominant polycystic kidney disease
23390129 These results reveal a reciprocal functional link between PC1 and PC2 which is critically dependent on their interaction.
23300259 Germline mutations in PKD1 gene is associated with autosomal-dominant polycystic kidney disease.
23014991 PC1 acts as chief mechanosensing molecule that modulates osteoblastic gene transcription and hence bone-cell differentiation through the calcineurin/NFAT signaling cascade.
23001567 A key target of polycystin-1, the cyclin-dependent kinase inhibitor p21, is up-regulated by Jade-1.
23001567 Jade-1 is a transcription factor and ubiquitin ligase whose activity is regulated by polycystin-1. A key target of polycystin-1, the cyclin-dependent kinase inhibitor p21, is up-regulated by Jade-1.
22872635 analysis of replication fork stalling and checkpoint activation by a PKD1 locus mirror repeat polypurine-polypyrimidine (Pu-Py) tract
22675472 Polycystin-1 forms a holoenzyme complex with PP1alpha via a conserved PP1-binding motif.
22582392 Proteolytic events that remove the C1 domain (but not the autoinhibitory PH domain) limit maximal PKD1 activity toward physiologically relevant protein substrates and lead to a defect in PKD1-dependent cellular responses.
22570239 Polycystin-1 regulates amphiregulin expression through CREB and AP1 signalling, which has implications in ADPKD cell proliferation
22508176 Study expanded the spectrum of known ADPKD pathogenic mutations by 41.8% for PKD1 and by 23.8% for PKD2, and provided new insights into several issues.
22456092 Knock down of polycystin-1 or of polycystin-2 inhibited the inositol trisphosphate induced Ca(2+) release.
22426824 PKD1 may negatively regulate the malignant potential of human osteosarcoma (OS), and may be a therapeutic target for human OS in the clinical setting.
22409330 The intervening string would then consist of a series of tandem PKD domains. The structures of the various PC1 mutants were all consistent with this model
22367170 Molecular genetic screening for germline mutations in both PKD1 and PKD2 genes is essential for the definitive diagnosis of ADPKD
22237240 Letter: Identify two new mutations in Indian patient with PKD1 based renal failure.
22227580 Results describe how phosphatidylinositol 3-kinase and protein kinase D1 cooperate to regulate the insulin-like growth factor signaling pathway.
22034641 We describe severely affected patients with polycystic kidney disease who carry, in addition to their expected familial germ-line defect, additional mutations in PKD genes, including HNF-1beta, which likely aggravate the phenotype.
22034075 The results indicate that PKD1 has a direct role in regulating human osteoblast commitment and function.
22031115 the observation that PKD1-affected individuals consistently displayed attenuated renal disease argues in favor of an allelic effect associated with the Y528C mutation.
21983717 PKD1:c.5014_5015delAG is a mutation found in a Chinese family with autosomal dominant polycystic kidney disease.
21867693 PKD1 plays a critical role in the expression of MMP-3 in human colonic myofibroblasts, and may contribute to the pathophysiology underlying colitis-associated cancer.
21865467 Transgenic PC-1 plays an essential role in stereocilia structure and maintenance but not directly in mechanoelectical transduction channel function in inner ear hair cells
21775626 identify a conserved amino acid sequence, KVHPSST, in the C-terminus of polycystin-1 (PC1) that serves as a ciliary-targeting signal.
21694639 ADPKD-CHF is caused by PKD1 mutations, with probable contribution from modifying gene(s).
21332816 the unique 4 bp insertion, c.3623-3624insGTGT, in the PKD1 gene might be the pathogenic mutation responsible for polycystic kidney disease in a Chinese family
21314639 This study showed that the extracellular portion of polycystin-1 does indeed contain beta-sheet domains, probably FNIII, and that, consequently, the REJ module is not a single domain.
21142036 The results suggested that the G4031D mutation affects the membrane insertion and topology of the C-terminal portion of polycystin-1 and represents a bona fide pathogenic mutation.
21115670 PKD1 mutations are associated with autosomal dominant polycystic kidney disease.
21076887 Novel PKCs activate ERK through PKD1 in MCF-7 cells.
21048031 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20980620 In fibroblast cells the localization effect is independent of PC2's channel activity or PC1 binding ability but involves a stimulation of PC1's GPS cleavage before the PC1 protein's surface delivery.
20937836 osmolytes such as urea or sorbitol may modulate PC1 mechanical properties and may lead to changes in the activation of the associated polycystin-2 channel or other intracellular events mediated by PC1.
20923779 MAP/ERK kinase kinase 1 (MEKK1) mediates transcriptional repression by interacting with polycystic kidney disease-1 (PKD1) promoter-bound p53 tumor suppressor protein
20856870 PC-1 polyproline motif interacts with the SH3 domain of NPHP1.
20837139 The direct binding of polycystin-1 with a G protein alpha subunit is required for the regulation of a specific signaling pathway.
20808796 novel polycystin-1 cleavage product, P100, which functions to reduce store operated Ca(2+) entry via direct inhibition of STIM1 translocation
20674666 These results suggest that the PKD family is involved in the transcriptional regulation of the InsR gene.
20558538 PKD1 mutations can manifest as a phenocopy of autosomal recessive polycystic kidney disease (ARPKD) with respect to renal involvement and highlight the perils of linkage-based diagnostics in ARPKD without positive PKHD1 mutation data.
20557879 required for inflammatory responses following toll-like receptor stimulation
20388565 p53 exerts a biphasic control on PKD1 gene transcription, depending on cellular context and the cognate cis-acting element
20219615 Polycystin-1, a large receptor molecule, forms a receptor-channel complex with polycystin-2, which is a cation channel belonging to the TRP family; Both polycystin proteins have been localized to the primary cilium
20206434 By means of the quartz crystal microbalance technique, this study shows that C-terminal region of PC2 specifically interacts with C-terminal region of polycystin-1 with high affinity in the absence as well as in the presence of Ca2+.
20201926 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20169078 Data demonstrate a mechanism by which the intracellular, carboxy-terminal tail of polycystin-1 (CP1) regulates mTOR signaling by altering the subcellular localization of TSC2.
19854836 PC1 inhibits Ca(2+) release, perhaps opposing the effect of PC2, which facilitates Ca(2+) release through the IP(3)R.
19759016 missense mutations may cause autosomal dominant polycystic kidney disease by altering the stability of the PC1 ectodomain, thereby perturbing its ability to sense mechanical signals
19686598 Twenty probable mutations of the PKD1 gene in 90 Czech individuals (fifteen new probable mutations) were detected
19460752 Knockdown of polycystic kidney disease 1, autosomal dominant (PKD1) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells
19443633 In autosomal dominant polycystic kidney disease, the presence of at least one affected family member who developed ESRD at age < or =55 was highly predictive of a PKD1 mutation.
19331813 Results suggest that polycystin-1 influences the shape and localization of both the microtubular network and the endoplasmic reticulum.
19285554 PC1-depletion in HEK293 cells and a PKD1-nonsense mutation in cyst-derived cell lines result in increased expression of the A(3) adenosine receptor via an NFkB-dependent mechanism.
19194729 PKD1 children have more and larger renal cysts, larger kidneys and higher ambulatory BP than do PKD2 children.
19194729 Observational study of gene-disease association. (HuGE Navigator)
19165178 dosage of functional PKD1 protein may be critical for cyst initiation.
19158373 Evidence for pathogenicity of atypical PDK1/2 splice mutations in autosomal dominant polycystic kidney disease.
19158352 polycystin-1, polycystin-2, and fibrocystin are shed in membrane particles in the urine, and these particles interact with primary cilia
18922886 Retinoic acid tratment of a kidney cell line increases the levels of endogenous PKD1 RNA.
18791038 Study demonstrates that partial duplication of PKD1 and ABCC6 has many consequences: pseudogenes give rise to new transcripts and mediate gene conversion, which results in disease-causing mutations and also serves as a reservoir for sequence variation.
18632682 Polycystin-1 C-terminal tail co-localizes with and binds to beta-catenin in the nucleus.
18566106 Centrosome amplification occurs in kidneys from conditional Pkd1 knockout mice and in human autosomal dominant polycystic kidney disease patients.
18422703 PC1 modulates Ca(2+) oscillations and a molecular mechanism to explain the association between abnormal Ca(2+) homeostasis and cell proliferation in autosomal dominant polycystic kidney disease.
18417541 disruption of ER luminal calcium homeostasis may contribute to the cyst phenotype in autosomal dominant polycystic kidney disease
18298949 These data suggest that PKD1 contributes to the antiproliferative effect of amlodipine on hCASMCs via JAK/STAT signaling and p21((Waf1/Cip1)) up-regulation.
18289888 The apoptosis of cancer cells was induced by overexpression of polycystin-1.
18283041 propose that PKD1 is frequently silenced by epigenetic regulation, which plays a role in cell migration and metastasis in gastric cancer
18263686 Immunostaining revealed polycystin-1 expression in the motile cilia of non-ADPKD airway epithelial cells.
18060739 Analysis of PKD patient samples showed no evidence for genomic deletions confined to PKD1; tuberous sclerosis patient samples in which deletions in TSC2 extended into PKD1 showed no evidence of clustering of breakpoints near the polypyrimidine tract.
17980165 Protein kinase X can restore normal function to PKD1-deficient kidneys and have implications for the development of preventative therapy for autosomal dominant polycystic kidney disease
17890878 Sp1 transcription factor binds with Pkd1 promoter regions in order to promote the activation of Pkd1.
17671167 PC-1 regulates the actin cytoskeleton in renal epithelial cells (MDCK) and induces cell scattering and cell migration.
17574468 Observational study of genetic testing. (HuGE Navigator)
17540339 polycystin-1 COOH-terminal can activate or block polycystin-1 signaling
17525154 The PKD1 gene product, plays a critical role in renal tubule diameter control and disruption of its function causes cyst formation in human autosomal dominant polycystic kidney disease
17451746 Data show that annexin A5 interacts with the N-terminal leucine-rich repeats of polycystin-1, and that polycystin-1 colocalizes with E-cadherin at cell-cell contacts and accelerates the recruitment of intracellular E-cadherin to reforming junctions.
17437318 Data suggest that PKD1 may act as a novel member of the tumor suppressor family of genes.
17437137 Reliable basis upon which to map important residues using mutagenic experiments and to refine knowledge about a preferred sugar ligand and the functional role of the C-lectins in polycystin-1.
17396115 ADPKD patient cells with known germline mutations in PKD1 had a decreased or absence of polycystin-1 but not polycystin-2. These cells had an increased sensitivity to IGF-1 and to cyclic AMP
17371830 These findings establish a mechanism for the spatial localization of PDK1 and its substrate Akt to regulate directional migration.
17102641 mTOR is regulatd by polycystin-1 in polycystic kidney disease [review]
17090781 Data provide evidence for ciliary dysfunction and polycystin mislocalization in human autosomal dominant polycystic kidney disease cells with PKD1 protein containing the novel DeltaL2433 mutation.
16790429 Results suggest that membrane-bound polycystin 1 has a central role in regulating morphogenic protein signaling at cell-matrix interfaces in non-confluent cells.
16778383 development of the kidney may regulate the expression of PC-1, and an altered PC-1 expression may contribute to cyst formation in autosomal dominant polycystic kidney disease
16767665 In PKD1 gene, 14 mutations found, including 10 missense, 1 insertion, 1 deletion and 2 nonsense mutations. Besides 12 mutations identified before, mutations nt32819G>A and nt37137T>C were the novel mutations found.
16741147 Observational study of gene-disease association. (HuGE Navigator)
16565258 propose that calcium response to fluid-flow shear stress can be used as a readout of polycystin function and that loss of mechanosensation in the renal tubular epithelia is a feature of autosomal dominant polycystic kidney disease cysts
16319969 News: regulates the cell cycle by preventing nuclear localization of ID2
16311606 PKD2 regulates the cell cycle through direct interaction with Id2; Id2 expression suppresses the induction of a cdk inhibitor, p21, by either PKD1 or PDK2. The PDK2-Id2 interaction is regulated by PDK1-dependent phosphorylation of PDK2.
16219758 polycystin-1 extracellular region displays a dynamic extensibility whereby the resting length might be regulated through unfolding/refolding of its Ig-like domains
16215947 Data suggested that the autosomal dominant polycystic kidney disease is not linked to PKD1 but to PKD2.
16038619 The polycystin multiprotein complex is embedded in a cholesterol-containing signalling microdomain specified by flotillin-2, which is distinct from classical light-buoyant-density, detergent-resistant domains.
16014040 CD16.7-PKD1 (115-226) activates Cl(-) channels in the Xenopus oocyte plasma membrane in parallel with, but not secondary to, activation of Ca(2+)-permeable cation channels
15870383 polycystin-1 accelerated the decay of the cell calcium response to ATP by upregulation of ER calcium reuptake and consequent minimization of the stimulus for capacitative calcium entry
15780076 Structure and function of this gene shows how mutation at this locus results in the spectrum of changes seen in autosomal-dominant polycystic kidney disease. (review)
15748886 In kidney epithelial cells the overexpression of PC1 C-terminus upregulates serum-evoked intracellular Ca2+ by counteracting the growth-suppression activity of endogenous PC1 and leading to an increase in cell proliferation.
15466861 PC1 signaling elevates intracellular Ca(2+), activates Galpha(q) and PLC, which then activates calcineurin and NFAT
15382167 Mutations occur throughout the PKD1 gene, but more severe disease is associated with N-terminal mutations.
15284290 polycystin-1 is regulated by Siah-1 through the ubiquitin-dependent proteasome pathway.
15087466 Polycystin-1 may be required for adequate AP-1 activity.
15060061 polycystin-1 is a surface membrane receptor that transduces the signal via changes in ionic currents.
15001556 PAF-evoked intracellular Ca2+ increase was reduced by the presence of PKD1 mutations. PC1 is functionally expressed in B- lymphoblastoid cells.
14718571 Enhanced phosphorylation of polycystin-1 in ADPKD cells precipitates changes in its localization and its ability to form protein complexes
14596619 The results of glycosylation reporter analyses are unambiguous for the majority of polycystin-1 transmembrane (TM) domains and support an 11 TM structure for polycystin-1 comprised of TM domains I-XI.
12946628 REVIEW: Role in renal tubulogenesis
12819240 one of the primary functions of polycystin-1 is to mediate cell-cell adhesion in renal epithelial cells, probably via homophilic or heterophilic interactions of the PKD domains
12482949 Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations.
12220456 Observational study of gene-disease association. (HuGE Navigator)
12048202 promoter is a target of the beta-catenin/T-cell factor pathway
11961010 Observational study of gene-disease association. (HuGE Navigator)
11912216 Polycystin-1 activation of c-Jun N-terminal kinase and AP-1 is mediated by heterotrimeric G proteins
11901144 identification, characterization, and localization of a complex with polycystin-2
11891195 found profound differences in the spatiotemporal expression of PKD1 and PKD2 during nephrogenesis, PKD2 being expressed earlier and more diffusely than PKD1
11857740 Twelve novel pathogenic DNA variants, including five truncating mutations, two in-frame deletions, and two splice-site mutations, have been detected in the duplicated region of the PKD1 gene.
11836366 Fluorescence in situ hybridization analysis in a patient with an acrofacial dysostosis-like phenotype, tuberous sclerosis, and polycystic kidney disease shows a microdeletion of approximately 280 kb including the PKD1 gene on chromosome 16p13.3.
11106764 induces resistance to apoptosis and spontaneous tubulogenesis in MDCK cells

AA Sequence

MPPAAPARLALALGLGLWLGALAGGPGRGCGPCEPPCLCGPAPGAACRVNCSGRGLRTLGPALRIPADAT      1 - 70
ALDVSHNLLRALDVGLLANLSALAELDISNNKISTLEEGIFANLFNLSEINLSGNPFECDCGLAWLPRWA     71 - 140
EEQQVRVVQPEAATCAGPGSLAGQPLLGIPLLDSGCGEEYVACLPDNSSGTVAAVSFSAAHEGLLQPEAC    141 - 210
SAFCFSTGQGLAALSEQGWCLCGAAQPSSASFACLSLCSGPPPPPAPTCRGPTLLQHVFPASPGATLVGP    211 - 280
HGPLASGQLAAFHIAAPLPVTATRWDFGDGSAEVDAAGPAASHRYVLPGRYHVTAVLALGAGSALLGTDV    281 - 350
QVEAAPAALELVCPSSVQSDESLDLSIQNRGGSGLEAAYSIVALGEEPARAVHPLCPSDTEIFPGNGHCY    351 - 420
RLVVEKAAWLQAQEQCQAWAGAALAMVDSPAVQRFLVSRVTRSLDVWIGFSTVQGVEVGPAPQGEAFSLE    421 - 490
SCQNWLPGEPHPATAEHCVRLGPTGWCNTDLCSAPHSYVCELQPGGPVQDAENLLVGAPSGDLQGPLTPL    491 - 560
AQQDGLSAPHEPVEVMVFPGLRLSREAFLTTAEFGTQELRRPAQLRLQVYRLLSTAGTPENGSEPESRSP    561 - 630
DNRTQLAPACMPGGRWCPGANICLPLDASCHPQACANGCTSGPGLPGAPYALWREFLFSVPAGPPAQYSV    631 - 700
TLHGQDVLMLPGDLVGLQHDAGPGALLHCSPAPGHPGPRAPYLSANASSWLPHLPAQLEGTWACPACALR    701 - 770
LLAATEQLTVLLGLRPNPGLRLPGRYEVRAEVGNGVSRHNLSCSFDVVSPVAGLRVIYPAPRDGRLYVPT    771 - 840
NGSALVLQVDSGANATATARWPGGSVSARFENVCPALVATFVPGCPWETNDTLFSVVALPWLSEGEHVVD    841 - 910
VVVENSASRANLSLRVTAEEPICGLRATPSPEARVLQGVLVRYSPVVEAGSDMVFRWTINDKQSLTFQNV    911 - 980
VFNVIYQSAAVFKLSLTASNHVSNVTVNYNVTVERMNRMQGLQVSTVPAVLSPNATLALTAGVLVDSAVE    981 - 1050
VAFLWTFGDGEQALHQFQPPYNESFPVPDPSVAQVLVEHNVMHTYAAPGEYLLTVLASNAFENLTQQVPV   1051 - 1120
SVRASLPSVAVGVSDGVLVAGRPVTFYPHPLPSPGGVLYTWDFGDGSPVLTQSQPAANHTYASRGTYHVR   1121 - 1190
LEVNNTVSGAAAQADVRVFEELRGLSVDMSLAVEQGAPVVVSAAVQTGDNITWTFDMGDGTVLSGPEATV   1191 - 1260
EHVYLRAQNCTVTVGAASPAGHLARSLHVLVFVLEVLRVEPAACIPTQPDARLTAYVTGNPAHYLFDWTF   1261 - 1330
GDGSSNTTVRGCPTVTHNFTRSGTFPLALVLSSRVNRAHYFTSICVEPEVGNVTLQPERQFVQLGDEAWL   1331 - 1400
VACAWPPFPYRYTWDFGTEEAAPTRARGPEVTFIYRDPGSYLVTVTASNNISAANDSALVEVQEPVLVTS   1401 - 1470
IKVNGSLGLELQQPYLFSAVGRGRPASYLWDLGDGGWLEGPEVTHAYNSTGDFTVRVAGWNEVSRSEAWL   1471 - 1540
NVTVKRRVRGLVVNASRTVVPLNGSVSFSTSLEAGSDVRYSWVLCDRCTPIPGGPTISYTFRSVGTFNII   1541 - 1610
VTAENEVGSAQDSIFVYVLQLIEGLQVVGGGRYFPTNHTVQLQAVVRDGTNVSYSWTAWRDRGPALAGSG   1611 - 1680
KGFSLTVLEAGTYHVQLRATNMLGSAWADCTMDFVEPVGWLMVAASPNPAAVNTSVTLSAELAGGSGVVY   1681 - 1750
TWSLEEGLSWETSEPFTTHSFPTPGLHLVTMTAGNPLGSANATVEVDVQVPVSGLSIRASEPGGSFVAAG   1751 - 1820
SSVPFWGQLATGTNVSWCWAVPGGSSKRGPHVTMVFPDAGTFSIRLNASNAVSWVSATYNLTAEEPIVGL   1821 - 1890
VLWASSKVVAPGQLVHFQILLAAGSAVTFRLQVGGANPEVLPGPRFSHSFPRVGDHVVSVRGKNHVSWAQ   1891 - 1960
AQVRIVVLEAVSGLQVPNCCEPGIATGTERNFTARVQRGSRVAYAWYFSLQKVQGDSLVILSGRDVTYTP   1961 - 2030
VAAGLLEIQVRAFNALGSENRTLVLEVQDAVQYVALQSGPCFTNRSAQFEAATSPSPRRVAYHWDFGDGS   2031 - 2100
PGQDTDEPRAEHSYLRPGDYRVQVNASNLVSFFVAQATVTVQVLACREPEVDVVLPLQVLMRRSQRNYLE   2101 - 2170
AHVDLRDCVTYQTEYRWEVYRTASCQRPGRPARVALPGVDVSRPRLVLPRLALPVGHYCFVFVVSFGDTP   2171 - 2240
LTQSIQANVTVAPERLVPIIEGGSYRVWSDTRDLVLDGSESYDPNLEDGDQTPLSFHWACVASTQREAGG   2241 - 2310
CALNFGPRGSSTVTIPRERLAAGVEYTFSLTVWKAGRKEEATNQTVLIRSGRVPIVSLECVSCKAQAVYE   2311 - 2380
VSRSSYVYLEGRCLNCSSGSKRGRWAARTFSNKTLVLDETTTSTGSAGMRLVLRRGVLRDGEGYTFTLTV   2381 - 2450
LGRSGEEEGCASIRLSPNRPPLGGSCRLFPLGAVHALTTKVHFECTGWHDAEDAGAPLVYALLLRRCRQG   2451 - 2520
HCEEFCVYKGSLSSYGAVLPPGFRPHFEVGLAVVVQDQLGAAVVALNRSLAITLPEPNGSATGLTVWLHG   2521 - 2590
LTASVLPGLLRQADPQHVIEYSLALVTVLNEYERALDVAAEPKHERQHRAQIRKNITETLVSLRVHTVDD   2591 - 2660
IQQIAAALAQCMGPSRELVCRSCLKQTLHKLEAMMLILQAETTAGTVTPTAIGDSILNITGDLIHLASSD   2661 - 2730
VRAPQPSELGAESPSRMVASQAYNLTSALMRILMRSRVLNEEPLTLAGEEIVAQGKRSDPRSLLCYGGAP   2731 - 2800
GPGCHFSIPEAFSGALANLSDVVQLIFLVDSNPFPFGYISNYTVSTKVASMAFQTQAGAQIPIERLASER   2801 - 2870
AITVKVPNNSDWAARGHRSSANSANSVVVQPQASVGAVVTLDSSNPAAGLHLQLNYTLLDGHYLSEEPEP   2871 - 2940
YLAVYLHSEPRPNEHNCSASRRIRPESLQGADHRPYTFFISPGSRDPAGSYHLNLSSHFRWSALQVSVGL   2941 - 3010
YTSLCQYFSEEDMVWRTEGLLPLEETSPRQAVCLTRHLTAFGASLFVPPSHVRFVFPEPTADVNYIVMLT   3011 - 3080
CAVCLVTYMVMAAILHKLDQLDASRGRAIPFCGQRGRFKYEILVKTGWGRGSGTTAHVGIMLYGVDSRSG   3081 - 3150
HRHLDGDRAFHRNSLDIFRIATPHSLGSVWKIRVWHDNKGLSPAWFLQHVIVRDLQTARSAFFLVNDWLS   3151 - 3220
VETEANGGLVEKEVLAASDAALLRFRRLLVAELQRGFFDKHIWLSIWDRPPRSRFTRIQRATCCVLLICL   3221 - 3290
FLGANAVWYGAVGDSAYSTGHVSRLSPLSVDTVAVGLVSSVVVYPVYLAILFLFRMSRSKVAGSPSPTPA   3291 - 3360
GQQVLDIDSCLDSSVLDSSFLTFSGLHAEQAFVGQMKSDLFLDDSKSLVCWPSGEGTLSWPDLLSDPSIV   3361 - 3430
GSNLRQLARGQAGHGLGPEEDGFSLASPYSPAKSFSASDEDLIQQVLAEGVSSPAPTQDTHMETDLLSSL   3431 - 3500
SSTPGEKTETLALQRLGELGPPSPGLNWEQPQAARLSRTGLVEGLRKRLLPAWCASLAHGLSLLLVAVAV   3501 - 3570
AVSGWVGASFPPGVSVAWLLSSSASFLASFLGWEPLKVLLEALYFSLVAKRLHPDEDDTLVESPAVTPVS   3571 - 3640
ARVPRVRPPHGFALFLAKEEARKVKRLHGMLRSLLVYMLFLLVTLLASYGDASCHGHAYRLQSAIKQELH   3641 - 3710
SRAFLAITRSEELWPWMAHVLLPYVHGNQSSPELGPPRLRQVRLQEALYPDPPGPRVHTCSAAGGFSTSD   3711 - 3780
YDVGWESPHNGSGTWAYSAPDLLGAWSWGSCAVYDSGGYVQELGLSLEESRDRLRFLQLHNWLDNRSRAV   3781 - 3850
FLELTRYSPAVGLHAAVTLRLEFPAAGRALAALSVRPFALRRLSAGLSLPLLTSVCLLLFAVHFAVAEAR   3851 - 3920
TWHREGRWRVLRLGAWARWLLVALTAATALVRLAQLGAADRQWTRFVRGRPRRFTSFDQVAQLSSAARGL   3921 - 3990
AASLLFLLLVKAAQQLRFVRQWSVFGKTLCRALPELLGVTLGLVVLGVAYAQLAILLVSSCVDSLWSVAQ   3991 - 4060
ALLVLCPGTGLSTLCPAESWHLSPLLCVGLWALRLWGALRLGAVILRWRYHALRGELYRPAWEPQDYEMV   4061 - 4130
ELFLRRLRLWMGLSKVKEFRHKVRFEGMEPLPSRSSRGSKVSPDVPPPSAGSDASHPSTSSSQLDGLSVS   4131 - 4200
LGRLGTRCEPEPSRLQAVFEALLTQFDRLNQATEDVYQLEQQLHSLQGRRSSRAPAGSSRGPSPGLRPAL   4201 - 4270
PSRLARASRGVDLATGPSRTPLRAKNKVHPSST                                        4271 - 4303
//

Text Mined References (227)

PMID Year Title
26775353 2015 Protein kinase D1 inhibits breast cancer cell invasion via regulating matrix metalloproteinase expression.
26764245 2016 Cell line modeling to study biomarker panel in prostate cancer.
26286632 2015 Elevated expression of mechanosensory polycystins in human carotid atherosclerotic plaques: association with p53 activation and disease severity.
26139440 2016 Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease.
26096820 2015 Trypanosoma cruzi extracellular amastigotes trigger the protein kinase D1-cortactin-actin pathway during cell invasion.
25880449 2015 A novel PKD1 variant demonstrates a disease-modifying role in trans with a truncating PKD1 mutation in patients with autosomal dominant polycystic kidney disease.
25757501 2015 Splicing defects caused by exonic mutations in PKD1 as a new mechanism of pathogenesis in autosomal dominant polycystic kidney disease.
25741140 2015 Screening analysis of candidate gene mutations in a kindred with polycystic liver disease.
25531466 2014 Modification of PCR conditions and design of exon-specific primers for the efficient molecular diagnosis of PKD1 mutations.
25491204 2014 Identification of novel PKD1 and PKD2 mutations in Korean patients with autosomal dominant polycystic kidney disease.
25367197 2014 Expression of polycystins and fibrocystin on primary cilia of lung cells.
25365220 2014 Altered trafficking and stability of polycystins underlie polycystic kidney disease.
25355409 2015 Imaging features of tuberous sclerosis complex with autosomal-dominant polycystic kidney disease: a contiguous gene syndrome.
25287328 2014 Protein kinase D1 regulates ER?-positive breast cancer cell growth response to 17?-estradiol and contributes to poor prognosis in patients.
25203322 2014 PKD1 phosphorylation-dependent degradation of SNAIL by SCF-FBXO11 regulates epithelial-mesenchymal transition and metastasis.
25180832 2014 OFD1 and flotillins are integral components of a ciliary signaling protein complex organized by polycystins in renal epithelia and odontoblasts.
25128071 2014 The p38 MAPK-regulated PKD1/CREB/Bcl-2 pathway contributes to selenite-induced colorectal cancer cell apoptosis in vitro and in vivo.
25123959 2015 Polycystin-1 and polycystin-2 are involved in the acquisition of aggressive phenotypes in colorectal cancer.
25111597 2015 Polycystic kidney disease with steatocystoma multiplex: evidences for a disruptive effect of mutated polycystin-1 on keratin 17 polymerisation.
24939912 2014 Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein.
24925719 2014 Predictors of autosomal dominant polycystic kidney disease progression.
24907393 2014 Defective pre-mRNA splicing in PKD1 due to presumed missense and synonymous mutations causing autosomal dominant polycystic disease.
24821069 2014 A new PKD1 mutation discovered in a Chinese family with autosomal polycystic kidney disease.
24707946 2015 PKD1 is critical for Epstein-Barr virus LMP1-induced protection of malignant B cells from cell death induced by rituximab.
24694054 2014 Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease.
24683199 2014 Two novel gross deletions of TSC2 in Malaysian patients with tuberous sclerosis complex and TSC2/PKD1 contiguous deletion syndrome.
24611717 2015 A comprehensive search for mutations in the PKD1 and PKD2 in Japanese subjects with autosomal dominant polycystic kidney disease.
24575920 2014 Two novel mutations affecting the same splice site of PKD1 correlate with different phenotypes in ADPKD.
24491980 2014 Polycystin-1: a master regulator of intersecting cystic pathways.
24416790 2014 Calpain-mediated proteolysis of polycystin-1 C-terminus induces JAK2 and ERK signal alterations.
24385601 2014 Polycystin-1 regulates actin cytoskeleton organization and directional cell migration through a novel PC1-Pacsin 2-N-Wasp complex.
24193408 2014 Polycystin-1 but not polycystin-2 deficiency causes upregulation of the mTOR pathway and can be synergistically targeted with rapamycin and metformin.
24189120 2014 VEGF-PKD1-HDAC7 signaling promotes endothelial progenitor cell migration and tube formation.
24009235 2013 Reduced ciliary polycystin-2 in induced pluripotent stem cells from polycystic kidney disease patients with PKD1 mutations.
23985799 2013 Novel PKD1 and PKD2 mutations in Taiwanese patients with autosomal dominant polycystic kidney disease.
23850273 2013 Matching structure with function: the GAIN domain of adhesion-GPCR and PKD1-like proteins.
23848298 2013 Polycystin-2 induces a conformational change in polycystin-1.
23624871 2013 Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic disease.
23567275 2013 Polycystic kidney disease: Polycystin-1 and polycystin-2--it's complicated.
23496908 2013 Autosomal dominant polycystic kidney disease in a family with mosaicism and hypomorphic allele.
23475492 2013 Novel PKD1 mutations - the effect on clinical phenotype of ADPKD patients in Lower Silesia.
23439951 2013 Progressive development of polycystic kidney disease in the mouse model expressing Pkd1 extracellular domain.
23431742 2012 Autosomal dominant polycystic kidney disease in University Clinic of Nephrology and Haemodialysis of Cotonou: clinical and genetical findings.
23431072 2013 Type of PKD1 mutation influences renal outcome in ADPKD.
23390129 2013 Hyperphosphorylation of polycystin-2 at a critical residue in disease reveals an essential role for polycystin-1-regulated dephosphorylation.
23300259 2013 Epidemiology of autosomal-dominant polycystic kidney disease: an in-depth clinical study for south-western Germany.
23014991 2013 Mechanical stimulation of polycystin-1 induces human osteoblastic gene expression via potentiation of the calcineurin/NFAT signaling axis.
23001567 2012 Polycystin-1 regulates the stability and ubiquitination of transcription factor Jade-1.
22872635 2012 Replication fork stalling and checkpoint activation by a PKD1 locus mirror repeat polypurine-polypyrimidine (Pu-Py) tract.
22675472 2012 Protein phosphatase-1? interacts with and dephosphorylates polycystin-1.
22582392 2012 Regulatory domain determinants that control PKD1 activity.
22570239 2012 Polycystin-1 regulates amphiregulin expression through CREB and AP1 signalling: implications in ADPKD cell proliferation.
22508176 2012 Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients.
22456092 2012 Polycystin-1 and polycystin-2 are both required to amplify inositol-trisphosphate-induced Ca2+ release.
22426824 2012 PKD1 negatively regulates cell invasion, migration and proliferation ability of human osteosarcoma.
22409330 2012 Atomic force microscopy imaging reveals the domain structure of polycystin-1.
22367170 2012 Adult patients with sporadic polycystic kidney disease: the importance of screening for mutations in the PKD1 and PKD2 genes.
22237240 2012 Mutation analysis of PKD1 gene in Indian population.
22227580 2012 Phosphatidylinositol 3-kinase and protein kinase D1 specifically cooperate to negatively regulate the insulin-like growth factor signaling pathway.
22034641 2011 Mutations in multiple PKD genes may explain early and severe polycystic kidney disease.
22034075 2012 Downregulation of PKD1 by shRNA results in defective osteogenic differentiation via cAMP/PKA pathway in human MG-63 cells.
22031115 2012 A missense mutation in PKD1 attenuates the severity of renal disease.
21983717 2011 [Identification of mutations in PKD1 and PKD2 genes in two Chinese families with autosomal dominant polycystic kidney disease].
21867693 2011 Protein kinase D1 mediates synergistic MMP-3 expression induced by TNF-? and bradykinin in human colonic myofibroblasts.
21865467 2011 Polycystin-1 is required for stereocilia structure but not for mechanotransduction in inner ear hair cells.
21775626 2011 A conserved signal and GTPase complex are required for the ciliary transport of polycystin-1.
21694639 2012 Congenital hepatic fibrosis and portal hypertension in autosomal dominant polycystic kidney disease.
21332816 2011 Putative mutation of PKD1 gene responsible for autosomal dominant polycystic kidney disease in a Chinese family.
21314639 2011 When a module is not a domain: the case of the REJ module and the redefinition of the architecture of polycystin-1.
21142036 2011 Effect of PKD1 gene missense mutations on polycystin-1 membrane topogenesis.
21115670 2011 Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD).
21076887 2011 Novel PKCs activate ERK through PKD1 in MCF-7 cells.
21048031 2011 Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph.
20980620 2010 Polycystin-1 surface localization is stimulated by polycystin-2 and cleavage at the G protein-coupled receptor proteolytic site.
20937836 2010 Naturally occurring osmolytes modulate the nanomechanical properties of polycystic kidney disease domains.
20923779 2010 MAP/ERK kinase kinase 1 (MEKK1) mediates transcriptional repression by interacting with polycystic kidney disease-1 (PKD1) promoter-bound p53 tumor suppressor protein.
20856870 2010 Nephrocystin-1 forms a complex with polycystin-1 via a polyproline motif/SH3 domain interaction and regulates the apoptotic response in mammals.
20837139 2011 Identification of polycystin-1 and G?12 binding regions necessary for regulation of apoptosis.
20808796 2010 Identification of a polycystin-1 cleavage product, P100, that regulates store operated Ca entry through interactions with STIM1.
20674666 2010 Protein kinase D activation stimulates the transcription of the insulin receptor gene.
20558538 2010 Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.
20557879 2010 Protein kinase D1 and D2 are involved in chemokine release induced by toll-like receptors 2, 4, and 5.
20388565 2010 Mechanisms of p53-mediated repression of the human polycystic kidney disease-1 promoter.
20219615 2010 Molecular advances in autosomal dominant polycystic kidney disease.
20206434 2010 Quantifying the interaction of the C-terminal regions of polycystin-2 and polycystin-1 attached to a lipid bilayer by means of QCM.
20201926 2010 Human variation in alcohol response is influenced by variation in neuronal signaling genes.
20169078 2010 Carboxy terminal tail of polycystin-1 regulates localization of TSC2 to repress mTOR.
20168298 2010 A polycystin-2 (TRPP2) dimerization domain essential for the function of heteromeric polycystin complexes.
19854836 2009 Polycystin-1 interacts with inositol 1,4,5-trisphosphate receptor to modulate intracellular Ca2+ signaling with implications for polycystic kidney disease.
19759016 2009 Naturally occurring mutations alter the stability of polycystin-1 polycystic kidney disease (PKD) domains.
19686598 2009 New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease.
19556541 2009 Structural and molecular basis of the assembly of the TRPP2/PKD1 complex.
19443633 2009 Family history of renal disease severity predicts the mutated gene in ADPKD.
19331813 2009 A short carboxy-terminal domain of polycystin-1 reorganizes the microtubular network and the endoplasmic reticulum.
19285554 2009 Deficiency of polycystic kidney disease-1 gene (PKD1) expression increases A(3) adenosine receptors in human renal cells: implications for cAMP-dependent signalling and proliferation of PKD1-mutated cystic cells.
19194729 2009 Genotype-phenotype correlation in children with autosomal dominant polycystic kidney disease.
19165178 2009 Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease.
19158373 2009 Evidence for pathogenicity of atypical splice mutations in autosomal dominant polycystic kidney disease.
19158352 2009 Characterization of PKD protein-positive exosome-like vesicles.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
18922886 2008 Retinoic acid-dependent activation of the polycystic kidney disease-1 (PKD1) promoter.
18837007 2009 Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease.
18791038 2008 How segmental duplications shape our genome: recent evolution of ABCC6 and PKD1 Mendelian disease genes.
18632682 2008 Polycystin-1 C-terminal tail associates with beta-catenin and inhibits canonical Wnt signaling.
18566106 2008 Loss of polycystin-1 causes centrosome amplification and genomic instability.
18422703 2008 Novel role for polycystin-1 in modulating cell proliferation through calcium oscillations in kidney cells.
18417541 2008 Heterologous expression of polycystin-1 inhibits endoplasmic reticulum calcium leak in stably transfected MDCK cells.
18298949 2008 Amlodipine inhibits cell proliferation via PKD1-related pathway.
18289888 2008 Polycystin-1 induced apoptosis and cell cycle arrest in G0/G1 phase in cancer cells.
18263686 2008 Autosomal dominant polycystic kidney disease is associated with an increased prevalence of radiographic bronchiectasis.
18060739 2008 Analysis of PKD1 for genomic deletion by multiplex ligation-dependent probe assay: absence of hot spots.
17980165 2008 Protein kinase X (PRKX) can rescue the effects of polycystic kidney disease-1 gene (PKD1) deficiency.
17890878 2007 Expression of the Pkd1 gene is momentously regulated by Sp1.
17671167 2007 Polycystin-1 induces cell migration by regulating phosphatidylinositol 3-kinase-dependent cytoskeletal rearrangements and GSK3beta-dependent cell cell mechanical adhesion.
17574468 Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease.
17540339 2007 The isolated polycystin-1 COOH-terminal can activate or block polycystin-1 signaling.
17525154 2007 Characterization of cis-autoproteolysis of polycystin-1, the product of human polycystic kidney disease 1 gene.
17474147 2007 Systematic identification of SH3 domain-mediated human protein-protein interactions by peptide array target screening.
17451746 2007 Annexin A5 interacts with polycystin-1 and interferes with the polycystin-1 stimulated recruitment of E-cadherin into adherens junctions.
17437318 PKD1 inhibits cancer cells migration and invasion via Wnt signaling pathway in vitro.
17437137 2007 Rational proteomics of PKD1. I. Modeling the three dimensional structure and ligand specificity of the C_lectin binding domain of Polycystin-1.
17396115 2007 Hyperproliferation of PKD1 cystic cells is induced by insulin-like growth factor-1 activation of the Ras/Raf signalling system.
17102641 2006 Regulation of mTOR by polycystin-1: is polycystic kidney disease a case of futile repair?
17090781 2007 Human ADPKD primary cyst epithelial cells with a novel, single codon deletion in the PKD1 gene exhibit defective ciliary polycystin localization and loss of flow-induced Ca2+ signaling.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
16790429 2006 The polycystin 1-C-terminal fragment stimulates ERK-dependent spreading of renal epithelial cells.
16778383 2006 Polycystin-1 expression in fetal, adult and autosomal dominant polycystic kidney.
16767665 2006 [Mutation detection of ADPKD PKD1 gene in Hans by denaturing high-performance liquid chromatography].
16741147 2006 Genetic risk for ischemic and hemorrhagic stroke.
16565258 2006 Loss of polycystin-1 in human cyst-lining epithelia leads to ciliary dysfunction.
16319969 2005 Polycystins: inhibiting the inhibitors.
16311606 2005 Polycystin-1 and polycystin-2 regulate the cell cycle through the helix-loop-helix inhibitor Id2.
16219758 2005 The nanomechanics of polycystin-1 extracellular region.
16215947 2005 [A Chinese autosomal dominant polycystic kidney disease family probably related to PKD2 gene].
16038619 2005 A polycystin multiprotein complex constitutes a cholesterol-containing signalling microdomain in human kidney epithelia.
16014040 2005 Expression of the polycystin-1 C-terminal cytoplasmic tail increases Cl channel activity in Xenopus oocytes.
15870383 2005 Expression of polycystin-1 enhances endoplasmic reticulum calcium uptake and decreases capacitative calcium entry in ATP-stimulated MDCK cells.
15780076 2005 Molecular pathogenesis of ADPKD: the polycystin complex gets complex.
15772804 2005 Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns.
15748886 2005 The cytoplasmic C-terminus of polycystin-1 increases cell proliferation in kidney epithelial cells through serum-activated and Ca(2+)-dependent pathway(s).
15616553 2004 The sequence and analysis of duplication-rich human chromosome 16.
15563610 2005 ATP-2 interacts with the PLAT domain of LOV-1 and is involved in Caenorhabditis elegans polycystin signaling.
15466861 2004 Polycystin-1 activates the calcineurin/NFAT (nuclear factor of activated T-cells) signaling pathway.
15382167 2004 Polycystic disease of the liver.
15326289 2004 Identification and proteomic profiling of exosomes in human urine.
15284290 2004 Siah-1 interacts with the intracellular region of polycystin-1 and affects its stability via the ubiquitin-proteasome pathway.
15231748 2004 Functional proteomics mapping of a human signaling pathway.
15146197 2004 Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.
15087466 2004 Aberrant polycystin-1 expression results in modification of activator protein-1 activity, whereas Wnt signaling remains unaffected.
15060061 2004 The N-terminal extracellular domain is required for polycystin-1-dependent channel activity.
15001556 2004 Deficiency of polycystin-2 reduces Ca2+ channel activity and cell proliferation in ADPKD lymphoblastoid cells.
14718571 2004 A polycystin-1 multiprotein complex is disrupted in polycystic kidney disease cells.
14596619 2003 Transmembrane domain analysis of polycystin-1, the product of the polycystic kidney disease-1 (PKD1) gene: evidence for 11 membrane-spanning domains.
12946628 2003 Role of polycystins in renal tubulogenesis.
12842373 2003 Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype.
12819240 2003 Functional analysis of PKD1 transgenic lines reveals a direct role for polycystin-1 in mediating cell-cell adhesion.
12665801 2003 Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.
12482949 2002 Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations.
12220456 2002 Three novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease.
12070253 2002 Mutation screening of the PKD1 transcript by RT-PCR.
12048202 2002 The polycystic kidney disease-1 promoter is a target of the beta-catenin/T-cell factor pathway.
12007403 2002 PKD1 induces p21(waf1) and regulation of the cell cycle via direct activation of the JAK-STAT signaling pathway in a process requiring PKD2.
12007219 2002 Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients.
11967008 2002 A complete mutation screen of the ADPKD genes by DHPLC.
11961010 2002 The position of the polycystic kidney disease 1 (PKD1) gene mutation correlates with the severity of renal disease.
11912216 2002 Polycystin-1 activation of c-Jun N-terminal kinase and AP-1 is mediated by heterotrimeric G proteins.
11901144 2002 Identification, characterization, and localization of a novel kidney polycystin-1-polycystin-2 complex.
11891195 2002 Expression of PKD1 and PKD2 transcripts and proteins in human embryo and during normal kidney development.
11857740 2002 Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families.
11836366 2002 Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndrome.
11773467 2002 Novel mutations of PKD1 gene in Chinese patients with autosomal dominant polycystic kidney disease.
11752017 2002 Interaction of the leucine-rich repeats of polycystin-1 with extracellular matrix proteins: possible role in cell proliferation.
11728985 2001 Biochemical characterization of bona fide polycystin-1 in vitro and in vivo.
11698076 2001 Polycystin channels and kidney disease.
11691639 2001 Mutational analysis within the 3' region of the PKD1 gene in Japanese families.
11581269 2001 Polycystin-1 interacts with intermediate filaments.
11571556 2001 Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families.
11558899 2001 Mutations of the PKD1 gene among Japanese autosomal dominant polycystic kidney disease patients, including one heterozygous mutation identified in members of the same family.
11414761 2001 Homologues to the first gene for autosomal dominant polycystic kidney disease are pseudogenes.
11406351 2001 The polycystin-1 C-type lectin domain binds carbohydrate in a calcium-dependent manner, and interacts with extracellular matrix proteins in vitro.
11316854 2001 Mutation analysis of the entire replicated portion of PKD1 using genomic DNA samples.
11274246 2001 Polycystin: new aspects of structure, function, and regulation.
11216660 2000 Novel mutations in the duplicated region of the polycystic kidney disease 1 (PKD1) gene provides supporting evidence for gene conversion.
11140688 2000 Co-assembly of polycystin-1 and -2 produces unique cation-permeable currents.
11115377 2001 Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications.
11113628 2000 Modification of the composition of polycystin-1 multiprotein complexes by calcium and tyrosine phosphorylation.
11058904 2000 Novel splicing and missense mutations in autosomal dominant polycystic kidney disease 1 (PKD1) gene: expression of mutated genes.
11012875 2000 Thirteen novel mutations of the replicated region of PKD1 in an Asian population.
10987650 1999 DGGE screening of PKD1 gene reveals novel mutations in a large cohort of 146 unrelated patients.
10923040 2000 Screening of the PKD1 duplicated region reveals multiple single nucleotide polymorphisms and a de novo mutation in Hellenic polycystic kidney disease families.
10861291 2000 Strong homophilic interactions of the Ig-like domains of polycystin-1, the protein product of an autosomal dominant polycystic kidney disease gene, PKD1.
10854095 2000 Novel mutations in the duplicated region of PKD1 gene.
10770959 2000 Cellular and subcellular distribution of polycystin-2, the protein product of the PKD2 gene.
10729710 2000 Novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease.
10647901 1999 Novel mutations in the 3 region of the polycystic kidney disease 1 (PKD1) gene.
10577909 1999 Mutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease.
10493829 1999 Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q.
10364515 1999 Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR.
10339594 1999 Interaction between RGS7 and polycystin.
10200984 1999 Mutational analysis within the 3' region of the PKD1 gene.
10097141 1999 Specific association of the gene product of PKD2 with the TRPC1 channel.
9921908 1998 Loss of heterozygosity in polycystic kidney disease with a missense mutation in the repeated region of PKD1.
9889186 1999 The structure of a PKD domain from polycystin-1: implications for polycystic kidney disease.
9521593 1998 Novel and recurrent mutations in the PKD1 (polycystic kidney disease) gene.
9345095 1997 Mutation detection in the repeated part of the PKD1 gene.
9326937 1997 Perinatal lethality with kidney and pancreas defects in mice with a targetted Pkd1 mutation.
9285784 1997 An unusual pattern of mutation in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation detection.
9259200 1997 Three novel mutations of the PKD1 gene in Italian families with autosomal dominant polycystic kidney disease.
9199561 1997 Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach.
9192675 1997 Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2.
9177229 1997 Polycystin: in vitro synthesis, in vivo tissue expression, and subcellular localization identifies a large membrane-associated protein.
9171830 1997 PKD1 interacts with PKD2 through a probable coiled-coil domain.
9150733 1997 New amino acid polymorphism, Ala/Val4058, in exon 45 of the polycystic kidney disease 1 gene: evolution of alleles.
8981910 1996 Identification and localization of polycystin, the PKD1 gene product.
8792818 1996 Detection of a novel nonsense mutation and an intragenic polymorphism in the PKD1 gene of a Cypriot family with autosomal dominant polycystic kidney disease.
8765322 1996 Adult, fetal, and polycystic kidney expression of polycystin, the polycystic kidney disease-1 gene product.
8643665 1996 Polycystin, the polycystic kidney disease 1 protein, is expressed by epithelial cells in fetal, adult, and polycystic kidney.
8554072 1996 Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations.
8069919 1994 The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. The European Polycystic Kidney Disease Consortium.
8004675 1994 The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. The European Polycystic Kidney Disease Consortium.
7894481 1994 Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndrome.
7736581 1995 Polycystic kidney disease: the complete structure of the PKD1 gene and its protein. The International Polycystic Kidney Disease Consortium.
7663510 1995 The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains.
7633406 1995 Analysis of the genomic sequence for the autosomal dominant polycystic kidney disease (PKD1) gene predicts the presence of a leucine-rich repeat. The American PKD1 Consortium (APKD1 Consortium).
7581371 1995 A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family.
2821260 1987 Studies of genetic linkage between adult polycystic kidney disease and three markers on chromosome 16.
1577479 1992 The gene for autosomal dominant polycystic kidney disease lies in a 750-kb CpG-rich region.