|
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 |
CLINGEN |
Expression of PKD1 and PKD2 transcripts and proteins in human embryo and during normal kidney development.
|
11891195 |
2002 |
|
Polycystic Kidney Diseases
|
0.700 |
Biomarker
|
group |
CLINGEN |
A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2).
|
9326320 |
1997 |
|
Polycystic Kidney Diseases
|
0.700 |
Biomarker
|
group |
CLINGEN |
Somatic inactivation of Pkd2 results in polycystic kidney disease.
|
9568711 |
1998 |
|
Polycystic Kidney Diseases
|
0.700 |
Biomarker
|
group |
CLINGEN |
A novel frameshift mutation induced by an adenosine insertion in the polycystic kidney disease 2 (PKD2) gene.
|
9573526 |
1998 |
|
Polycystic Kidney Diseases
|
0.700 |
Biomarker
|
group |
CLINGEN |
Seven novel mutations of the PKD2 gene in families with autosomal dominant polycystic kidney disease.
|
10411676 |
1999 |
|
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 |
Biomarker
|
group |
CLINGEN |
PKD1 and PKD2 are two recently identified genes that are responsible for the vast majority of autosomal polycystic kidney disease, a common inherited disease that causes progressive renal failure.
|
9192675 |
1997 |
|
Polycystic Kidney Diseases
|
0.700 |
Biomarker
|
group |
CLINGEN |
Cellular and subcellular distribution of polycystin-2, the protein product of the PKD2 gene.
|
10770959 |
2000 |
|
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 |
Biomarker
|
group |
CLINGEN |
PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein.
|
8650545 |
1996 |
|
Polycystic Kidney Diseases
|
0.700 |
Biomarker
|
group |
CLINGEN |
PKD2 functions as an epidermal growth factor-activated plasma membrane channel.
|
16135816 |
2005 |
|
Polycystic Kidney Diseases
|
0.700 |
Biomarker
|
group |
HPO |
|
|
|
|
Polycystic Kidney Diseases
|
0.700 |
Biomarker
|
group |
MGD |
|
|
|
|
Polycystic Kidney Diseases
|
0.700 |
GeneticVariation
|
group |
LHGDN |
Molecular pathogenesis of ADPKD: the polycystin complex gets complex.
|
15780076 |
2005 |
|
Polycystic Kidney Diseases
|
0.700 |
Biomarker
|
group |
LHGDN |
These data suggest that polycystin-2 functions as a calcium-activated intracellular calcium release channel in vivo and that polycystic kidney disease results from the loss of a regulated intracellular calcium release signalling mechanism.
|
11854751 |
2002 |
|
Polycystic Kidney Diseases
|
0.700 |
CausalMutation
|
group |
CLINVAR |
|
|
|
|
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 |