Autosomal Recessive Polycystic Kidney Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Autosomal recessive polycystic kidney disease (ARPKD), usually considered to be a genetically homogeneous disease caused by mutations in PKHD1, has been associated with ciliary dysfunction.
|
28530676 |
2017 |
Autosomal Recessive Polycystic Kidney Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations.
|
12874454 |
2003 |
Autosomal Recessive Polycystic Kidney Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies.
|
26673778 |
2016 |
Autosomal Recessive Polycystic Kidney Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in PKHD1 (polycystic kidney and hepatic disease gene 1) gene cause the autosomal recessive polycystic kidney disease (ARPKD).
|
20709014 |
2010 |
Autosomal Recessive Polycystic Kidney Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Finally, the recent discoveries with the newly identified disease gene PKHD1, which causes autosomal recessive polycystic kidney disease, were also presented at the meeting.
|
12582469 |
2002 |
Autosomal Recessive Polycystic Kidney Disease
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
In fact, cholangiocytes isolated from an ARPKD rat model develop shorter and dysmorphic cilia, suggesting polyductin to be important for normal ciliary morphology.
|
17160262 |
2006 |
Autosomal Recessive Polycystic Kidney Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fine mapping of the autosomal recessive polycystic kidney disease locus (PKHD1) and the genes MUT, RDS, CSNK2 beta, and GSTA1 at 6p21.1-p12.
|
9503014 |
1998 |
Autosomal Recessive Polycystic Kidney Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene.
|
15200508 |
2004 |
Autosomal Recessive Polycystic Kidney Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Herein, we present a case of ARPKD that was diagnosed at 22 weeks of gestation by ultrasonographic examination and MRI and verified by PKHD1 mutation analysis and array-based genetic deletion analysis.
|
21790888 |
2011 |
Autosomal Recessive Polycystic Kidney Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, compound heterozygous PKHD1 mutations were elucidated to be the molecular basis of the patient with ARPKD.
|
25153916 |
2014 |
Autosomal Recessive Polycystic Kidney Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
G8: a novel domain associated with polycystic kidney disease and non-syndromic hearing loss.
|
16632497 |
2006 |
Autosomal Recessive Polycystic Kidney Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutational analysis of the PKHD1 gene was performed in 11 families with a history of 1 to 6 fetuses or children affected by ARPKD, which either were aborted or died shortly after birth.
|
30595564 |
2018 |
Autosomal Recessive Polycystic Kidney Disease
|
1.000 |
GeneticVariation
|
disease |
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 |
Autosomal Recessive Polycystic Kidney Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our aim was to set up the first study of ARPKD patients from the Czech Republic, to determine the composition of their mutations and genotype-phenotype correlations, along with establishment of next-generation sequencing of the PKHD1 gene that could be used for the diagnosis of ARPKD patients.
|
26695994 |
2015 |
Autosomal Recessive Polycystic Kidney Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Autosomal recessive polycystic kidney disease (ARPKD) [MIM 263200] belongs to a group of congenital hepatorenal fibrocystic syndromes and is caused by mutations in the PKHD1 gene encoding the multidomain protein fibrocystin/polyductin (FPC).
|
19176689 |
2009 |
Autosomal Recessive Polycystic Kidney Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Case Report: Whole-exome analysis of a child with polycystic kidney disease and ventriculomegaly.
|
25966130 |
2015 |
Autosomal Recessive Polycystic Kidney Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).
|
15698423 |
2005 |
Autosomal Recessive Polycystic Kidney Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Cost-effective PKHD1 genetic testing for autosomal recessive polycystic kidney disease.
|
24162162 |
2014 |
Autosomal Recessive Polycystic Kidney Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
[Genetic diagnosis of Caroli syndrome with autosomal recessive polycystic kidney disease: a case report and literature review].
|
29643536 |
2018 |
Autosomal Recessive Polycystic Kidney Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Prevalence of Rare Genetic Variations and Their Implications in NGS-data Interpretation.
|
28851938 |
2017 |
Autosomal Recessive Polycystic Kidney Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in PKHD1 (polycystic kidney and hepatic disease gene 1) gene cause the autosomal recessive polycystic kidney disease (ARPKD).
|
21300060 |
2011 |
Autosomal Recessive Polycystic Kidney Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In 96% of families we identified at least one mutated PKHD1 allele (overall detection rate 76.6%) indicating that PKHD1 mutation screening is a powerful diagnostic tool in patients suspected with ARPKD.
|
15698423 |
2005 |
Autosomal Recessive Polycystic Kidney Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We have identified PKHD1, the gene mutated in ARPKD.
|
11898128 |
2002 |
Autosomal Recessive Polycystic Kidney Disease
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
All but one of the 109 amplicons were successfully read, and we identified the two PKHD1 mutations in 11 of the ARPKD cases, one mutation in 9 patients, and no mutation in only 2 patients.
|
25701400 |
2015 |
Autosomal Recessive Polycystic Kidney Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The variation in ARPKD phenotype suggests that in addition to PKHD1 mutations, other genes may play a role, acting as modifiers of disease severity.
|
30414501 |
2019 |