human : 16
mouse : 4
Ezrin distribution is abnormal in principal cells from a murine model of autosomal recessive polycystic kidney disease.
|Mouse||PTK2||5747||protein tyrosine kinase 2|
Thus renal cyst formation in the bcl-2 -/- mice may be the result of an inability of complete differentiation due to continued activation of growth processes, including activation of FAK and paxillin.
|Mouse||PKHD1||5314||polycystic kidney and hepatic disease 1 (autosomal recessive)|
Cyst formation correlates with inhibition of Pkhd1 expression, which argues that mutations of HNF-1beta produce kidney cysts by down-regulating the ARPKD gene, Pkhd1.
|Mouse||PAX2||5076||paired box 2|
Reduced Pax2 gene dosage resulted in a significant inhibition of renal cyst growth while maintaining more normal renal structures.
|Human||ESCO2||157570||establishment of sister chromatid cohesion N-acetyltransferase 2|
|Human||CEP290||80184||centrosomal protein 290kDa|
CEP290 (also known as NPHP6) interacts with and modulates the activity of ATF4, a transcription factor implicated in cAMP-dependent renal cyst formation
|Human||NIPBL||25836||Nipped-B homolog (Drosophila)|
Isolated renal cyst (rare)
|Human||ARHGEF11||9826||Rho guanine nucleotide exchange factor (GEF) 11|
Arhgef11-deficient embryos often exhibited altered expression of laterality markers, enlarged brain ventricles, kidney cysts, and an excess number of otoliths in the otic vesicles.
|Human||OFD1||8481||oral-facial-digital syndrome 1|
Adult onset polycystic kidney (50%)
|Human||YWHAE||7531||tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide|
|Human||TFAP2A||7020||transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)|
|Human||HNF1B||6928||HNF1 homeobox B|
Whole HNF-1beta gene deletions are a common cause of developmental renal disease, particularly renal cystic
|Human||PKHD1||5314||polycystic kidney and hepatic disease 1 (autosomal recessive)|
Autosomal recessive polycystic kidney disease results from mutations in the PKHD1 gene, affects newborn infants and progresses very rapidly.
We show that renal cyst formation is accompanied by a drastic defect in the transcriptional activation of Umod, Pkhd1 and Pkd2 genes, whose mutations are responsible for distinct cystic kidney syndromes.
RESULTS: We reviewed modern research on the molecular genetics of autosomal recessive polycystic kidney disease related to PKHD1 gene located on chromosome 6p21-cen, as well as on the role of fibrocystin in the terminal differentiation of the collecting and biliary ductules.
To determine whether fibrocystin/polyductin/tigmin (FPC), the protein product encoded by the PKHD1 gene that is responsible for autosomal recessive polycystic kidney disease among human subjects, is also a component of primary cilia in the kidney, antipeptide antibodies to the carboxyl-terminal intracellular domain and amino-terminal extracellular domain of FPC were generated and were characterized with immunoblotting and immuno-light and -electron microscopy.
The PKHD1 (polycystic kidney and hepatic disease 1) gene responsible for autosomal recessive polycystic kidney disease has been mapped to 6p21.1-p12 to an approximately 1-cM interval flanked by the markers D6S1714/D6S243 and D6S1024.
To further define the exact subcellular localization of FPC, the protein product encoded by the PKHD1 gene responsible for autosomal recessive polycystic kidney disease (PKD) in humans, and whether FPC has direct and/or indirect cross talk with PC2, which, in turn, is pivotal for the pathogenesis of autosomal dominant PKD, we performed double immunostaining and coimmunoprecipitation as well as a microfluorimetry study of kidney tubular epithelial cells.
Congenital hepatic fibrosis whether it is accompanied by bile duct dilatations (Caroli;s syndrome) or not, may be associated with autosomal recessive polycystic kidney disease, which is caused by mutations in PKHD1 that encodes fibrocystin, a protein of primary cilia.
New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene.
Functional analysis of PKHD1 splicing in autosomal recessive polycystic kidney disease.
Finally, the recent discoveries with the newly identified disease gene PKHD1, which causes autosomal recessive polycystic kidney disease, were also presented at the meeting.
PKHD1, the gene mutated in human autosomal recessive polycystic kidney disease has recently been identified.
Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).
Genetic analysis showed that the PCK rat model is orthologous to autosomal recessive polycystic kidney disease, and allowed the human gene, PKHD1, to be precisely localized and identified.
Recent developments have helped elucidate the function of the autosomal dominant polycystic kidney disease proteins, polycystin-1 and polycystin-2, and have revealed the primary defect in autosomal recessive polycystic kidney disease, by positional cloning of the gene, PKHD1.
|Human||PKD1||5310||polycystic kidney disease 1 (autosomal dominant)|
Recently, a deletion mutation disrupting both TSC2 and PKD1 has been described in young children with tuberous sclerosis complex with severe renal cystic disease.
These results demonstrate that some renal cyst epithelial cells exhibit clonal chromosomal abnormalities with loss of the wild-type copy of PKD1.
Humans heterozygous for PKD1 or PKD2 develop autosomal dominant polycystic kidney disease, a common genetic disorder characterized by renal cyst formation and extrarenal complications such as hypertension and vascular aneurysms.
We have previously shown that in the case of PKD1, renal cyst development is likely to require somatic inactivation of the normal allele coupled to a germline PKD1 mutation.
However, a functional link between PKD1 and the ion transport processes required to drive renal cyst enlargement has remained elusive.
The cloning of PKD1 and PKD2 in recent years has provided the initial steps in defining the mechanisms underlying renal cyst formation in this condition, with the aim of defining pharmacological and genetic interventions that may ameliorate the diverse and often serious clinical manifestations of this disease.
Loss of the polycystic kidney disease (PKD1) region of chromosome 16p13 in renal cyst cells supports a loss-of-function model for cyst pathogenesis.
Renal disease. II. The polycystic kidney disease 1 (PKD-1) gene: an important clue in the study of renal cyst formation.
In 2 families in which ADPKD is not co-inherited with PKD1 markers, only 11% of members aged less than 30 years had kidney cysts.
|Human||PAFAH1B1||5048||platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)|
|Human||P2RX7||5027||purinergic receptor P2X, ligand-gated ion channel, 7|
The P2X7 ATP receptor modulates renal cyst development in vitro.
|Human||KCNN4||3783||potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4|
KCa3.1 channels play a critical role in transcellular chloride secretion and net fluid transport into the kidney cysts of patients with ADPKD by maintaining