Polycystic Kidney, Autosomal Dominant
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in PKD1 or PKD2, the genes encoding polycystin 1 (PC1) and polycystin 2 (PC2), respectively.
|
31668373 |
2020 |
Polycystic Kidney, Autosomal Dominant
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We describe a family with recurrent foetal presentation of ADPKD due to co-inheritance of pathogenic variants in both PKD1 [c.3860T > C; p.(Leu1287Pro)] and PKD2 [(c.1000C > A; p.(Pro334Thr)] genes.
|
31349084 |
2020 |
Polycystic Kidney, Autosomal Dominant
|
1.000 |
Biomarker
|
disease |
BEFREE |
In this review, we describe the biophysical and physiological properties of PC2 as a cation channel and modulator of intracellular calcium channels, along with how these properties are altered in ADPKD.
|
31805375 |
2020 |
Polycystic Kidney, Autosomal Dominant
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant polycystic kidney disease (ADPKD) is caused primarily by mutations of two genes, PKD1 and PKD2.
|
30165646 |
2019 |
Polycystic Kidney, Autosomal Dominant
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in polycystin proteins PKD1 and TRPP2 lead to autosomal dominant polycystic kidney disease.
|
30928102 |
2019 |
Polycystic Kidney, Autosomal Dominant
|
1.000 |
Biomarker
|
disease |
BEFREE |
Low bone turnover osteopenia has been reported in mice with conditional deletion of the PKD1 and PKD2 genes in osteoblasts, and preliminary clinical data also suggest suppressed bone turnover in patients with ADPKD.
|
30665572 |
2019 |
Polycystic Kidney, Autosomal Dominant
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
PKD2 mutations lead to the significant reduction of TRPP2 expression in T lymphocytes derived from ADPKD patients.
|
31514750 |
2019 |
Polycystic Kidney, Autosomal Dominant
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutation or deletion of the gene encoding for PC2 results in autosomal dominant polycystic kidney disease (ADPKD), a condition characterized by numerous fluid-filled cysts.
|
31064883 |
2019 |
Polycystic Kidney, Autosomal Dominant
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The detection rate for a PKD1 and PKD2 mutation in the Chinese ADPKD patients was 95.2% (59/62).
|
29633482 |
2019 |
Polycystic Kidney, Autosomal Dominant
|
1.000 |
Biomarker
|
disease |
CTD_human |
Some cases of autosomal dominant polycystic kidney disease (ADPKD) are caused by defects in TRPP2 (also called polycystin-2, PC2, or PKD2).
|
30883612 |
2019 |
Polycystic Kidney, Autosomal Dominant
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Autosomal recessive polycystic kidney disease (ARPKD) and autosomal dominant polycystic kidney disease (ADPKD) are genetically distinct, with ADPKD usually caused by the genes <i>PKD1</i> or <i>PKD2</i> (encoding polycystin-1 and polycystin-2, respectively) and ARPKD caused by <i>PKHD1</i> (encoding fibrocystin/polyductin [FPC]).
|
31427367 |
2019 |
Polycystic Kidney, Autosomal Dominant
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Autosomal Dominant Polycystic Kidney Disease (ADPKD) typically results from a mutation in the PKD1 and PKD2 genes, which code for polycystin-1 (PC1) and polycystin-2 (PC2), respectively.
|
30792735 |
2019 |
Polycystic Kidney, Autosomal Dominant
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
PKD1 and PKD2 variants were identified by direct gene sequencing and/or multiplex ligation-dependent probe amplification (MLPA) in 125 unrelated patients of ADPKD.
|
30816285 |
2019 |
Polycystic Kidney, Autosomal Dominant
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic kidney disease and is caused by heterozygous germ-line mutations in either PKD1 (85%) or PKD2 (15%).
|
31767049 |
2019 |
Polycystic Kidney, Autosomal Dominant
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant polycystic kidney disease (ADPKD) is mainly caused by mutations in the PKD1 (~85%) or PKD2 (~15%) gene which, respectively, encode polycystin-1 (PC1) and polycystin-2 (PC2).
|
31341901 |
2019 |
Polycystic Kidney, Autosomal Dominant
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
ADPKD is caused by a mutation in PKD1 or PKD2 genes encoding the proteins polycystin-1 and polycystin-2, respectively.
|
30644092 |
2019 |
Polycystic Kidney, Autosomal Dominant
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We have evaluated the efficacy of WES, WGS and targeted enrichment methodologies in detecting ADPKD mutations in the PKD1 and PKD2 genes in patients who were clinically evaluated by ultrasonography and renal function tests.
|
30858458 |
2019 |
Polycystic Kidney, Autosomal Dominant
|
1.000 |
Biomarker
|
disease |
BEFREE |
<i>PKD1</i> or <i>PKD2</i>, the two main causal genes for autosomal dominant polycystic kidney disease (ADPKD), encode the multipass transmembrane proteins polycystin-1 (PC1) and polycystin-2 (PC2), respectively.
|
31451534 |
2019 |
Polycystic Kidney, Autosomal Dominant
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
One of the most common human genetic diseases is autosomal dominant polycystic kidney disease (ADPKD), which is caused by mutations in the PKD1 or PKD2 genes that encode Polycystin 1 and 2 (PC1/2), transmembrane proteins that translocate to the cilium.
|
30799240 |
2019 |
Polycystic Kidney, Autosomal Dominant
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant polycystic kidney disease (ADPKD) is caused mostly by mutations in polycystin-1 or polycystin-2.
|
31059522 |
2019 |
Polycystic Kidney, Autosomal Dominant
|
1.000 |
Biomarker
|
disease |
BEFREE |
Some cases of autosomal dominant polycystic kidney disease (ADPKD) are caused by defects in TRPP2 (also called polycystin-2, PC2, or PKD2).
|
30883612 |
2019 |
Polycystic Kidney, Autosomal Dominant
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Autosomal Dominant Polycystic Kidney Disease (ADPKD), the most common monogenic kidney disease, is caused by mutations in the PKD1, PKD2 or, in a very limited number of families, GANAB genes.
|
29600752 |
2019 |
Polycystic Kidney, Autosomal Dominant
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic renal disease, caused in the majority of the cases by a mutation in either the PKD1 or the PKD2 gene.
|
31773180 |
2019 |
Polycystic Kidney, Autosomal Dominant
|
1.000 |
Biomarker
|
disease |
BEFREE |
PC1 and PC2 are encoded by the Pkd1 and Pkd2 genes that are implicated in autosomal dominant polycystic kidney disease (ADPKD).
|
31556469 |
2019 |
Polycystic Kidney, Autosomal Dominant
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Polycystin-1 (PC-1) and 2 (PC-2) are the products of the PKD1 and PKD2 genes, which are mutated in Autosomal Dominant Polycystic Kidney Disease (ADPKD).
|
31719603 |
2019 |