|
Polycystic Kidney Diseases
|
0.700 |
Biomarker
|
group |
BEFREE |
Human genetics point to three additional TRP channels as plausible therapeutic targets: TRPC6 in FSGS, PKD2 in polycystic kidney disease, and TRPM6 in familial hypomagnesemia with secondary hypocalcemia (HSH).
|
31704171 |
2019 |
|
Polycystic Kidney Diseases
|
0.700 |
Biomarker
|
group |
BEFREE |
To determine whether defects in other human cystoproteins have similar effects, we studied extracellular acidification and glucose metabolism in human embryonic kidney (HEK-293) cell lines with polycystic kidney and hepatic disease 1 ( PKHD1) and polycystic kidney disease (PKD) 2 ( PKD2) truncating defects along multiple sites of truncating mutations found in patients with autosomal recessive and dominant PKDs.
|
30566001 |
2019 |
|
Polycystic Kidney Diseases
|
0.700 |
GeneticVariation
|
group |
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 |
|
Polycystic Kidney Diseases
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Isolated liver cysts are caused by mutations in Protein Kinase C Substrate 80K-H (PRKCSH), SEC63, and LDL Receptor Related Protein 5 (LRP5), whereas Polycystic Kidney Disease (PKD)1, PKD2, and PKHD1 mutations cause kidney cysts often accompanied by liver cysts.
|
30652979 |
2019 |
|
Polycystic Kidney Diseases
|
0.700 |
Biomarker
|
group |
BEFREE |
This structure reveals that of the five Ig-like polycystic kidney disease (PKD) domains in AAVR, PKD2 binds directly to the spike region of the AAV2 capsid adjacent to the icosahedral three-fold axis.
|
30742069 |
2019 |
|
Polycystic Kidney Diseases
|
0.700 |
GeneticVariation
|
group |
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 |
|
Polycystic Kidney Diseases
|
0.700 |
Biomarker
|
group |
CLINGEN |
Novel Mutations in the PKD1 and PKD2 Genes of Chinese Patients with Autosomal Dominant Polycystic Kidney Disease.
|
29529603 |
2018 |
|
Polycystic Kidney Diseases
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Using a combination of genetic complementation with deletion constructs and virus overlay assays with individual domains, we find that AAV2 functionally interacts predominantly with the second Ig-like polycystic kidney disease (PKD) repeat domain (PKD2) present in the ectodomain of AAVR.
|
28679762 |
2017 |
|
Polycystic Kidney Diseases
|
0.700 |
Biomarker
|
group |
BEFREE |
Polycystic kidney disease (PKD) is a life-threatening disorder, commonly caused by defects in polycystin-1 (PC1) or polycystin-2 (PC2), in which tubular epithelia form fluid-filled cysts.
|
28967916 |
2017 |
|
Polycystic Kidney Diseases
|
0.700 |
Biomarker
|
group |
BEFREE |
Structure of the polycystic kidney disease TRP channel Polycystin-2 (PC2).
|
27991905 |
2017 |
|
Polycystic Kidney Diseases
|
0.700 |
Biomarker
|
group |
BEFREE |
No gating ligand is known for the human homologue of TrpP, polycystin-2, which causes polycystic kidney disease.
|
28011630 |
2017 |
|
Polycystic Kidney Diseases
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Mutations in Polycystic Kidney Disease proteins (PKD1 or PKD2) are causative for autosomal dominant polycystic kidney disease (ADPKD).
|
25920554 |
2016 |
|
Polycystic Kidney Diseases
|
0.700 |
Biomarker
|
group |
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 |
|
Polycystic Kidney Diseases
|
0.700 |
Biomarker
|
group |
CLINGEN |
Human polycystin-2 transgene dose-dependently rescues ADPKD phenotypes in Pkd2 mutant mice.
|
26435415 |
2015 |
|
Polycystic Kidney Diseases
|
0.700 |
Biomarker
|
group |
BEFREE |
Male worm mating requires lov-1 and pkd-2 (homologs of the human polycystic kidney disease genes, PKD1 and PKD2), which are expressed in male-specific neurons.
|
26702651 |
2015 |
|
Polycystic Kidney Diseases
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Polycystic livers are found in autosomal dominant polycystic kidney disease (ADPKD), caused by polycystic kidney disease (PKD)1 and PKD2 mutations in virtually all cases, and in isolated polycystic liver disease (PCLD), where 20% of cases are caused by mutations in Protein kinase C substrate 80K-H (PRKCSH) or SEC63.
|
24506938 |
2014 |
|
Polycystic Kidney Diseases
|
0.700 |
GeneticVariation
|
group |
BEFREE |
An mTOR anti-sense oligonucleotide decreases polycystic kidney disease in mice with a targeted mutation in Pkd2.
|
24847003 |
2014 |
|
Polycystic Kidney Diseases
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Here, we provide a comprehensive review of these significant advances as well as those related to disease pathogenesis models, including mutation analysis of PKD1 and PKD2 (encoding polycystin 2), current mutation detection rate, allelic heterogeneity, genotype and phenotype relationships (in terms of three different inheritance patterns: classical autosomal dominant inheritance, complex inheritance, and somatic and germline mosaicism), modifier genes, the role of second somatic mutation hit in renal cystogenesis, and findings from mouse models of polycystic kidney disease.
|
25263802 |
2014 |
|
Polycystic Kidney Diseases
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Molecular analysis of a consanguineous Iranian polycystic kidney disease family identifies a PKD2 mutation that aids diagnostics.
|
24011172 |
2013 |
|
Polycystic Kidney Diseases
|
0.700 |
Biomarker
|
group |
BEFREE |
Polycystin-1C terminus cleavage and its relation with polycystin-2, two proteins involved in polycystic kidney disease.
|
23570767 |
2013 |
|
Polycystic Kidney Diseases
|
0.700 |
Biomarker
|
group |
CLINGEN |
Novel PKD1 and PKD2 mutations in Taiwanese patients with autosomal dominant polycystic kidney disease.
|
23985799 |
2013 |
|
Polycystic Kidney Diseases
|
0.700 |
AlteredExpression
|
group |
BEFREE |
In cultured fibroblasts derived from these fetuses, the expression of prominent polycystic kidney disease genes (PKD1 and PKD2) was decreased, whereas the oncogene c-MYC was upregulated, providing potential explanations for the observed renal phenotype.
|
23418306 |
2013 |
|
Polycystic Kidney Diseases
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Family screening for polycystic kidney disease was negative and mutations in polycystic kidney disease 1 and 2 genes (PKD1 and PKD2) were absent.
|
23165645 |
2012 |
|
Polycystic Kidney Diseases
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Clinical utility of PKD2 mutation testing in a polycystic kidney disease cohort attending a specialist nephrology out-patient clinic.
|
22863349 |
2012 |
|
Polycystic Kidney Diseases
|
0.700 |
Biomarker
|
group |
BEFREE |
In PCK rats and Pkd2(ws25/-) mice, VK3 reduced liver and kidney weights and hepato-renal cystic and fibrotic areas by 18%-34%.
|
22155366 |
2012 |