|
Episodic Kinesigenic Dyskinesia 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The proliferative aspects of the two major forms of PKD-autosomal dominant PKD (ADPKD), which arises from mutations in the polycystins PKD1 and PKD2, and autosomal recessive PKD (ARPKD), which arises from mutations in PKHD1-has encouraged investigation into protein components of the core cell proliferative machinery as potential drivers of PKD pathogenesis.
|
31830556 |
2020 |
|
Episodic Kinesigenic Dyskinesia 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Here we demonstrate AKT and mTORC1 hyperactivation in two representative murine PKD models (renal epithelial-specific Inpp5e knockout and collecting duct-specific Pkd1 deletion) and identify a downstream signaling network that contributes to DNA damage accumulation.
|
31625572 |
2020 |
|
Episodic Kinesigenic Dyskinesia 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This retrospective cohort study involves 91 PGT cycles for PKD for 43 couples (33 couples for PKD1, 2 couples for PKD2 and 8 couples for autosomal recessive PKD (ARPKD)) from January 2005 until December 2016 with follow-up of transfers until end of 2017.
|
30927425 |
2019 |
|
Episodic Kinesigenic Dyskinesia 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
Interestingly, this G3TM PKD and the classical PKD1/2 deficient PKD shared common pathways, possibly because the mutant p53S could regulate the expression levels of PKD1/2, Pkhd1, and Hnf1b.
|
31119048 |
2019 |
|
Episodic Kinesigenic Dyskinesia 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
The later onset of inactivation of <i>Sec63</i> restricted to the collecting duct does not result in overt activation of the Ire1<i>α</i>-Xbp1 pathway or cause polycystin-1-dependent PKD.
|
30745418 |
2019 |
|
Episodic Kinesigenic Dyskinesia 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Following analysis and confirmation, the duplication variant NM_001009944.2:c.9359dupA:p.Y3120_E3121delinsX in PKD1, within the polycystin‑1, lipoxygenase, α‑toxin domain, was considered to be the pathogenic factor in the examined family with autosomal dominant PKD.
|
30720121 |
2019 |
|
Episodic Kinesigenic Dyskinesia 1
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Conclusively, these results elucidate the significant role of ProT, including protein acetylation and STAT3 activation in PKD, which represent potential for ameliorating the disease progression of PKD.-Chen, Y.-C., Su, Y.-C., Shieh, G.-S., Su, B.-H., Su, W.-C., Huang, P.-H., Jiang, S.-T., Shiau, A.-L., Wu, C.-L. Prothymosin α promotes STAT3 acetylation to induce cystogenesis in Pkd1-deficient mice.
|
31589480 |
2019 |
|
Episodic Kinesigenic Dyskinesia 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our findings confirm that PKD1 alleles may combine to produce severe paediatric onset PKD mimicking the more severe autosomal recessive ciliopathy syndromes associated with PKD.
|
31079206 |
2019 |
|
Episodic Kinesigenic Dyskinesia 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Polycystic kidney disease (PKD) is a common genetic disorder characterized by formations of numerous cysts in kidneys and most caused by PKD1 or PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD).
|
31399962 |
2019 |
|
Episodic Kinesigenic Dyskinesia 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
PKD1 mutation was detected in him and his father, who also had PKD with small kidney volume.
|
31455242 |
2019 |
|
Episodic Kinesigenic Dyskinesia 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Polycystic Kidney Disease (PKD), which is attributable to mutations in the PKD1 and PKD2 genes encoding polycystin-1 (PC1) and polycystin-2 (PC2) respectively, shares common cellular defects with cancer, such as uncontrolled cell proliferation, abnormal differentiation and increased apoptosis.
|
31251475 |
2019 |
|
Episodic Kinesigenic Dyskinesia 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
Genetic analysis identified a heterozygous frameshift mutation in PKD1, which encodes polycystin-1, a major causative gene of PKD.
|
30464138 |
2019 |
|
Episodic Kinesigenic Dyskinesia 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
A comprehensive analysis of all the G-protein α subunits expressed in the <i>Xenopus</i> pronephric kidney demonstrates that polycystin 1 recruits a select subset of G-protein α subunits and that their knockdown - as in the case of Gnas - results in a PKD phenotype.
|
29530879 |
2018 |
|
Episodic Kinesigenic Dyskinesia 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
Herein, we report the crystal structure of the first PKD domain from V. anguillarum Epp (Epp-PKD1) and its specific Ca<sup>2+</sup>-binding capacity.
|
30268503 |
2018 |
|
Episodic Kinesigenic Dyskinesia 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
As mutations in polycystin-1 and -2 are associated with decreased proliferation of immortalized lymphoblastoid cells in PKD, we investigated whether lymphopenia could be an unrecognized trait of PKD.
|
28387829 |
2018 |
|
Episodic Kinesigenic Dyskinesia 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The comprehensive methods may be useful in distinguishing the pathogenic mutations from the variations in PKD1, PKD2 and PKHD1 genes for prenatal diagnosis and presymptom diagnosis of PKD.
|
28578020 |
2017 |
|
Episodic Kinesigenic Dyskinesia 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Approximately 85% of PKD cases are due to mutations in the polycystin 1 (PKD1) gene.
|
28870863 |
2017 |
|
Episodic Kinesigenic Dyskinesia 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In contrast, AAV5 interacts primarily through the first, most membrane-distal, PKD domain (PKD1) of AAVR to promote transduction.
|
28679762 |
2017 |
|
Episodic Kinesigenic Dyskinesia 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
Various polycystic kidney disease (PKD) animal models including Pkd1- or Pkd2-deficient mice have been developed and efficiently utilized to identify novel therapeutic targets as well as elucidate multiple mechanisms of cyst formation in PKD.
|
27730436 |
2016 |
|
Episodic Kinesigenic Dyskinesia 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant polycystic kidney disease (PKD) is an inherited disease that results from mutations in either polycystin (PKD1) or polycystin 2 (PKD2), both of which are large, complex, and multifunctional proteins whose loss results in the development of numerous fluid-filled cysts and fibrosis that compromise renal function.
|
20938930 |
2011 |
|
Episodic Kinesigenic Dyskinesia 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mosaic deletion of Pkd1 resulted in PKD and replicated characteristic features of human PKD including aberrant mTOR activation, epithelial proliferation and apoptosis, and progressive fibrosis.
|
20075061 |
2010 |
|
Episodic Kinesigenic Dyskinesia 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Analysis of 27 independent PKD patient samples showed no evidence for genomic deletions confined to PKD1.
|
18060739 |
2008 |
|
Episodic Kinesigenic Dyskinesia 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This is the first preimplantation genetic diagnosis for PKD, which resulted in the birth of healthy twins confirmed to be free of PKD1 and PKD2.
|
15482771 |
2004 |
|
Episodic Kinesigenic Dyskinesia 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The most common form of autosomal dominant polycystic kidney disease (PKD) results from mutation of the PKD1 gene on chromosome 16p13.3.
|
11728985 |
2001 |
|
Episodic Kinesigenic Dyskinesia 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We conclude that this family presents a form of autosomal dominant PKD with reduced penetrance and no linkage to the PKD1 locus on the short arm of chromosome 16.
|
2370053 |
1990 |