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 |
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
NEDD4-family E3 ligase dysfunction due to PKHD1/Pkhd1 defects suggests a mechanistic model for ARPKD pathobiology.
|
28798345 |
2017 |
Autosomal Recessive Polycystic Kidney Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
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 |
FPC (fibrocystin or polyductin) is a single transmembrane receptor-like protein, responsible for the human autosomal recessive polycystic kidney disease (ARPKD).
|
24851866 |
2014 |
Autosomal Recessive Polycystic Kidney Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
PKHD1/fibrocystin, the defective gene in ARPKD, is expressed in the cilia of bile duct epithelium and leads to abnormalities in the rubric of the ductal plate malformation.
|
16176423 |
2005 |
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 |
Biomarker
|
disease |
BEFREE |
Perinatal respiratory failure, a kidney length > +4SD and early-onset hypertension increase the likelihood of PKHD1-associated ARPKD.
|
29956005 |
2018 |
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 |
Biomarker
|
disease |
BEFREE |
Functional analysis of PKHD1 splicing in autosomal recessive polycystic kidney disease.
|
16897190 |
2006 |
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 |
Biomarker
|
disease |
BEFREE |
Fibrocystin is localized to the branching ureteric bud, collecting and biliary ducts, consistent with the disease phenotype, and often absent from ARPKD tissue.
|
14741187 |
2004 |
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 |
Autosomal Recessive Polycystic Kidney Disease
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
To test this, conditionally immortalized cell lines derived from human fetal ARPKD cyst-lining (pool and clone 5E) cell lines with low levels of fibrocystin/polyductin expression and age-matched normal collecting tubule [human fetal collecting tubule (HFCT) pool and clone 2C] cell lines were grown in culture, loaded with a Ca(2+) indicator dye, and subjected to laminar shear.
|
18256315 |
2008 |