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 |
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 |
CLINVAR |
Case Report: Whole-exome analysis of a child with polycystic kidney disease and ventriculomegaly.
|
25966130 |
2015 |
Autosomal Recessive Polycystic Kidney Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
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 |
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 |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
Autosomal Recessive Polycystic Kidney Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Molecular genetic investigations using whole-exome sequencing and confirmation using Sanger sequencing revealed a homozygous pathogenic mutation in PKHD1 underlying the clinical phenotype of ARPKD.
|
25966130 |
2015 |
Autosomal Recessive Polycystic Kidney Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease.
|
26695994 |
2015 |
Autosomal Recessive Polycystic Kidney Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To describe the recent increase in the understanding of the clinical manifestation of autosomal recessive polycystic kidney disease (ARPKD), which is caused by mutations in the PKHD1 gene.
|
25689455 |
2015 |
Autosomal Recessive Polycystic Kidney Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Variants in PKHD1 are responsible for ARPKD and CS with a high inter- and intra-familial phenotypic variability.
|
26385851 |
2015 |
Autosomal Recessive Polycystic Kidney Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This is the first report of intragenic duplication in the PKHD1 gene in ARPKD.
|
26502924 |
2015 |
Autosomal Recessive Polycystic Kidney Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Clinical and genetic characterization of a founder PKHD1 mutation in Afrikaners with ARPKD.
|
25193386 |
2015 |
Autosomal Recessive Polycystic Kidney Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
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 |
CausalMutation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
Autosomal Recessive Polycystic Kidney Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease.
|
26695994 |
2015 |
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 |
Cost-effective PKHD1 genetic testing for autosomal recessive polycystic kidney disease.
|
24162162 |
2014 |
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 |
GeneticVariation
|
disease |
CLINVAR |
Clinical characteristics and mutation analysis of three Chinese children with autosomal recessive polycystic kidney disease.
|
25124979 |
2014 |
Autosomal Recessive Polycystic Kidney Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Intragenic motifs regulate the transcriptional complexity of Pkhd1/PKHD1.
|
24984783 |
2014 |
Autosomal Recessive Polycystic Kidney Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Novel Mutation in the PKHD1 Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney Disease.
|
25114813 |
2014 |
Autosomal Recessive Polycystic Kidney Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1 gene.
|
25104275 |
2014 |
Autosomal Recessive Polycystic Kidney Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
The genetic basis of both ADPKD and ARPKD have been identified, and delineation of the basic molecular and cellular pathophysiology has led to the discovery that abnormal ADPKD and ARPKD gene products interact to create "polycystin complexes" located at multiple sites within affected cells.
|
24336431 |
2014 |
Autosomal Recessive Polycystic Kidney Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We aimed to identify the PKHD1 exons most likely mutated in Spanish ARPKD patients.
|
24162162 |
2014 |
Autosomal Recessive Polycystic Kidney Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Whole exome sequencing identifies recessive PKHD1 mutations in a Chinese twin family with Caroli disease.
|
24710345 |
2014 |