Polycystic Kidney, Autosomal Dominant
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
ADPKD is associated with a germline mutation of one of the two Pkd1 alleles.
|
31412963 |
2020 |
Polycystic Kidney, Autosomal Dominant
|
0.900 |
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
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We reported a very early-onset autosomal dominant polycystic kidney disease (ADPKD) family caused by a novel heterozygous PKD1 mutation; another fetus with DYNC2H1 compound heterozygous missense mutations showed mainly kidney dysplasia instead of skeletal abnormalities; and a novel PKD1 mutation, c.12445-3C > G, was confirmed to cause two wrong splicing modes.
|
31730820 |
2020 |
Polycystic Kidney, Autosomal Dominant
|
0.900 |
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
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families.
|
31079206 |
2019 |
Polycystic Kidney, Autosomal Dominant
|
0.900 |
Biomarker
|
disease |
BEFREE |
We used whole-exome sequencing in a cohort of 122 patients with genetically unresolved clinical diagnosis of ADPKD or polycystic liver disease to identify a candidate gene, <i>ALG9</i>, and <i>in vitro</i> cell-based assays of PC1 protein maturation to functionally validate it.
|
31395617 |
2019 |
Polycystic Kidney, Autosomal Dominant
|
0.900 |
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
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
<b>Conclusions:</b> Mutations in PKD1 and PKD2 are the most common cause of ADPKD in Saudi patients with typical ADPKD.
|
31488014 |
2019 |
Polycystic Kidney, Autosomal Dominant
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disease in humans and is caused by mutations in the PKD1 or PKD2 gene.
|
29633482 |
2019 |
Polycystic Kidney, Autosomal Dominant
|
0.900 |
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
|
0.900 |
Biomarker
|
disease |
BEFREE |
Additionally, based on the analysis of 4,805 pathogenic substitutions in PKD1 within various regions, the presence of the missense mutation in the N‑terminal domain of polycystin‑1 may present high pathogenicity in ADPKD.
|
30720121 |
2019 |
Polycystic Kidney, Autosomal Dominant
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in polycystin-1 (PC1) account for ∼85% of ADPKD.
|
31641668 |
2019 |
Polycystic Kidney, Autosomal Dominant
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Seminal megavesicles were found in 23 of 92 ADPKD (25%) subjects with PKD1 (22/71, 31%) or PKD2 (n = 1/21, 5%) mutations, but in only two control subjects (P < 0.0001).
|
30230107 |
2019 |
Polycystic Kidney, Autosomal Dominant
|
0.900 |
Biomarker
|
disease |
BEFREE |
These results demonstrate the ion channel function of polycystin-1 in the polycystin-1/polycystin-2 complex, enriching our understanding of this channel and its role in ADPKD.
|
31441214 |
2019 |
Polycystic Kidney, Autosomal Dominant
|
0.900 |
Biomarker
|
disease |
BEFREE |
PKD1-associated autosomal dominant polycystic kidney disease with glomerular cysts presenting with nephrotic syndrome caused by focal segmental glomerulosclerosis.
|
31455242 |
2019 |
Polycystic Kidney, Autosomal Dominant
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in polycystin proteins PKD1 and TRPP2 lead to autosomal dominant polycystic kidney disease.
|
30928102 |
2019 |
Polycystic Kidney, Autosomal Dominant
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Here, using CRISPR/Cas9, we generate ADPKD models with PKD1 mutations in cynomolgus monkeys.
|
31822676 |
2019 |
Polycystic Kidney, Autosomal Dominant
|
0.900 |
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
|
0.900 |
Biomarker
|
disease |
BEFREE |
Our study determined a dual role for c-Myc, as a major contributor in Pc1-induced cystogenesis and in a feed-forward regulatory Pkd1-c-Myc loop mechanism that may also prevail in human ADPKD.
|
30388220 |
2019 |
Polycystic Kidney, Autosomal Dominant
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
ADPKD is linked to mutations in either PKD1 or PKD2 that codifies polycystin-1 (PC1) and polycystin-2 (PC2 or TRPP2), respectively.
|
31514750 |
2019 |
Polycystic Kidney, Autosomal Dominant
|
0.900 |
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
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
About the same number of children do carry mutations in the dominant autosomal dominant polycystic kidney disease (ADPKD) genes, PKD1 and less frequent PKD2, often arise de novo or may affect both disease alleles in a recessive mode.
|
30359986 |
2019 |
Polycystic Kidney, Autosomal Dominant
|
0.900 |
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
|
0.900 |
Biomarker
|
disease |
BEFREE |
Caffeine consumption from conception through 12 weeks led to increased cystic index and total kidney volume and worsened renal function in Pkd1-deficient cystic mice, suggesting that high consumption of caffeine may contribute to a faster progression of renal disease in ADPKD.
|
30977988 |
2019 |
Polycystic Kidney, Autosomal Dominant
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant polycystic kidney disease (ADPKD) is caused primarily by mutations of two genes, PKD1 and PKD2.
|
30165646 |
2019 |