Autosomal Recessive Polycystic Kidney Disease
|
1.000 |
Biomarker
|
disease |
MGD |
Polycystin-2 expression is regulated by a PC2-binding domain in the intracellular portion of fibrocystin.
|
18782757 |
2008 |
Autosomal Recessive Polycystic Kidney Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Genetic analysis of the PKHD1 gene with long-rang PCR sequencing.
|
27752906 |
2016 |
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 |
Biomarker
|
disease |
MGD |
To determine the molecular mechanism of the cystogenesis in ARPKD, we recently generated a mouse model for ARPKD that carries a targeted mutation in the mouse orthologue of human PKHD1.
|
20875407 |
2011 |
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 |
Biomarker
|
disease |
BEFREE |
Paxillin coimmunoprecipitation analyses suggested that fibrocystin-1 was a component of the normal focal adhesion complex and that actin and fibrocystin-1 were lost from ARPKD complexes.
|
19923420 |
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 |
CausalMutation
|
disease |
CLINVAR |
[Analysis of PKHD1 gene mutation in a family affected with infantile polycystic kidney disease].
|
27577217 |
2016 |
Autosomal Recessive Polycystic Kidney Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations.
|
26385851 |
2015 |
Autosomal Recessive Polycystic Kidney Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
ARPKD is caused by mutations in the polycystic kidney and hepatic disease 1 (PKHD1) gene, which consists of 86 exons that are variably assembled into a number of alternatively spliced transcripts.
|
16133180 |
2005 |
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 |
Biomarker
|
disease |
BEFREE |
These observations should provide an important platform for determining FPC function and the pathogenesis of ARPKD, with the targeting of mTOR signaling being exploitable as a novel therapy.
|
19524688 |
2009 |
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 |
CausalMutation
|
disease |
CLINVAR |
Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease.
|
15696446 |
2005 |
Autosomal Recessive Polycystic Kidney Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD).
|
16523049 |
2006 |
Autosomal Recessive Polycystic Kidney Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Given the limitations of antenatal ultrasound, this is only feasible by molecular genetics that became possible in 1994 when PKHD1, the locus for ARPKD, was mapped to chromosome 6p.
|
15108281 |
2004 |
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 |