Polycystic Kidney Diseases
|
0.200 |
Biomarker
|
group |
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 |
Polycystic Kidney Diseases
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Isolated liver cysts are caused by mutations in Protein Kinase C Substrate 80K-H (PRKCSH), SEC63, and LDL Receptor Related Protein 5 (LRP5), whereas Polycystic Kidney Disease (PKD)1, PKD2, and PKHD1 mutations cause kidney cysts often accompanied by liver cysts.
|
30652979 |
2019 |
Polycystic Kidney Diseases
|
0.200 |
Biomarker
|
group |
BEFREE |
This work also shows that the removal of two-thirds of the intracellular tail of fibrocystin does not result in cystogenesis in either the liver or kidney, with major implications for our understanding of Pkhd1 function and polycystic kidney disease in general.
|
29055424 |
2017 |
Polycystic Kidney Diseases
|
0.200 |
GeneticVariation
|
group |
BEFREE |
The Sanger sequencing of patients with recessive polycystic kidney disease is challenging due to the length and heterogeneous mutational spectrum of the PKHD1 gene.
|
25701400 |
2015 |
Polycystic Kidney Diseases
|
0.200 |
AlteredExpression
|
group |
BEFREE |
Microarray expression analysis of kidneys from 30-day-old PCK rats revealed increased expression of genes previously identified in PKD renal expression profiles, such as inflammatory response, extracellular matrix synthesis, and cell proliferation genes among others, whereas the FHH.Pkhd1 did not show activation of these common markers of disease.
|
22669842 |
2012 |
Polycystic Kidney Diseases
|
0.200 |
Biomarker
|
group |
BEFREE |
Mutation in the Pkhd1 gene that encodes a ciliary protein, fibrocystin, causes multiple cysts in the kidneys and liver in the polycystic kidney (PCK) rat, a model for human autosomal recessive PCK disease.
|
22647734 |
2012 |
Polycystic Kidney Diseases
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutations in PKHD1 (polycystic kidney and hepatic disease gene 1) gene cause the autosomal recessive polycystic kidney disease (ARPKD).
|
21300060 |
2011 |
Polycystic Kidney Diseases
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutations in PKHD1 (polycystic kidney and hepatic disease gene 1) gene cause the autosomal recessive polycystic kidney disease (ARPKD).
|
20709014 |
2010 |
Polycystic Kidney Diseases
|
0.200 |
Biomarker
|
group |
BEFREE |
Polycystic kidney disease protein fibrocystin localizes to the mitotic spindle and regulates spindle bipolarity.
|
20554582 |
2010 |
Polycystic Kidney Diseases
|
0.200 |
Biomarker
|
group |
BEFREE |
Mutation of the polycystic kidney and hepatic disease gene 1 (PKHD1) was identified as the cause of ARPKD.
|
19524688 |
2009 |
Polycystic Kidney Diseases
|
0.200 |
AlteredExpression
|
group |
BEFREE |
This product, polyductin, is a 4,074-amino acid protein expressed in the cytoplasm, plasma membrane and primary apical cilia, a structure that has been implicated in the pathogenesis of different polycystic kidney diseases.
|
17160262 |
2006 |
Polycystic Kidney Diseases
|
0.200 |
AlteredExpression
|
group |
BEFREE |
Reduced PKHD1 levels in pck rat kidneys and its colocalization with polycystins may underlie the pathogenic basis for cystogenesis in polycystic kidney diseases.
|
14983006 |
2004 |
Polycystic Kidney Diseases
|
0.200 |
Biomarker
|
group |
LHGDN |
PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats.
|
11898128 |
2002 |
Polycystic Kidney Diseases
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Syndrome of autosomal recessive polycystic kidneys with skeletal and facial anomalies is not linked to the ARPKD gene locus on chromosome 6p.
|
10607948 |
2000 |
Polycystic Kidney Diseases
|
0.200 |
CausalMutation
|
group |
CLINVAR |
|
|
|
Polycystic Kidney Diseases
|
0.200 |
Biomarker
|
group |
HPO |
|
|
|