|
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 |
GeneticVariation
|
group |
BEFREE |
A family with a milder form of adult dominant polycystic kidney disease not linked to the PKD1 (16p) or PKD2 (4q) genes.
|
9222969 |
1997 |
|
Polycystic Kidney Diseases
|
0.700 |
Biomarker
|
group |
BEFREE |
PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein.
|
8650545 |
1996 |
|
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 |
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 |
BEFREE |
TRPC6, TRPM6, and TRPP2 have been implicated in hereditary focal segmental glomerulosclerosis (FSGS), hypomagnesemia with secondary hypocalcemia (HSH), and polycystic kidney disease (PKD), respectively.
|
17346947 |
2007 |
|
Polycystic Kidney Diseases
|
0.700 |
Biomarker
|
group |
BEFREE |
Polycystin-L (PCL) shares high homology with polycystin-2, the product of polycystic kidney disease gene-2.
|
11959145 |
2002 |
|
Polycystic Kidney Diseases
|
0.700 |
GeneticVariation
|
group |
BEFREE |
To use preimplantation genetic diagnosis for achieving a polycystic kidney disease (PKD)-free pregnancy for a couple in which the female partner was affected by PKD but whose PKD1 or PKD2 carrier status was not established.
|
15482771 |
2004 |
|
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 |
GeneticVariation
|
group |
BEFREE |
TRPP2 (polycystin-2) is a member of the TRP family of non-selective cation channels that is mutated in human autosomal polycystic kidney disease.
|
17535744 |
2006 |
|
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 |
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 |
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 |
Trans-heterozygous Pkd1 and Pkd2 mutations modify expression of polycystic kidney disease.
|
12140187 |
2002 |
|
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 |
GeneticVariation
|
group |
BEFREE |
The PKD1 or PKD2 genes encode polycystins (PC) 1 and 2, which are associated with polycystic kidney disease.
|
19854836 |
2009 |
|
Polycystic Kidney Diseases
|
0.700 |
Biomarker
|
group |
BEFREE |
A truncated polycystin-2 protein causes polycystic kidney disease and retinal degeneration in transgenic rats.
|
16943309 |
2006 |
|
Polycystic Kidney Diseases
|
0.700 |
Biomarker
|
group |
BEFREE |
Using the yeast two-hybrid assay, we found that PC2 interacts with the microtubule-dependent motor kinesin-2 subunit KIF3A, a protein involved in polycystic kidney disease.
|
16950792 |
2006 |
|
Polycystic Kidney Diseases
|
0.700 |
Biomarker
|
group |
BEFREE |
Other genes related to and interacting with the trp family include the Grc gene, which codes for a growth factor-regulated channel protein, and PKD1/PKD2, involved in polycystic kidney disease.
|
10607831 |
2000 |
|
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 |
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 |
An initiative of the Polycystic Kidney Disease Foundation, PKDB is a publicly accessible database that aims to streamline the evaluation of PKD1 and PKD2 gene variants detected in samples from those with ADPKD, as well as to assist ongoing clinical and molecular research in the field.
|
17370309 |
2007 |
|
Polycystic Kidney Diseases
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Mutations in the PKD2 gene on the long arm of chromosome 4 are responsible for approximately 15% of cases of polycystic kidney disease.
|
9175744 |
1997 |