Published in Hum Mol Genet on October 20, 2004
Polycystic kidney disease. Annu Rev Med (2009) 4.78
A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation. Nat Genet (2011) 3.18
Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease. Kidney Int (2009) 2.99
Cyst formation and activation of the extracellular regulated kinase pathway after kidney specific inactivation of Pkd1. Hum Mol Genet (2008) 2.23
A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence. PLoS Genet (2006) 1.90
TAZ promotes PC2 degradation through a SCFbeta-Trcp E3 ligase complex. Mol Cell Biol (2007) 1.86
Molecular advances in autosomal dominant polycystic kidney disease. Adv Chronic Kidney Dis (2010) 1.77
Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity. J Clin Invest (2012) 1.74
Pkd1 inactivation induced in adulthood produces focal cystic disease. J Am Soc Nephrol (2008) 1.65
The cell biology of polycystic kidney disease. J Cell Biol (2010) 1.58
Macrophage migration inhibitory factor promotes cyst growth in polycystic kidney disease. J Clin Invest (2015) 1.51
Pol II-expressed shRNA knocks down Sod2 gene expression and causes phenotypes of the gene knockout in mice. PLoS Genet (2006) 1.49
A Pkd1-Fbn1 genetic interaction implicates TGF-β signaling in the pathogenesis of vascular complications in autosomal dominant polycystic kidney disease. J Am Soc Nephrol (2013) 1.49
Overexpression of PKD1 causes polycystic kidney disease. Mol Cell Biol (2006) 1.47
mTORC1-mediated inhibition of polycystin-1 expression drives renal cyst formation in tuberous sclerosis complex. Nat Commun (2016) 1.41
Tolvaptan inhibits ERK-dependent cell proliferation, Cl⁻ secretion, and in vitro cyst growth of human ADPKD cells stimulated by vasopressin. Am J Physiol Renal Physiol (2011) 1.40
Lysine methyltransferase SMYD2 promotes cyst growth in autosomal dominant polycystic kidney disease. J Clin Invest (2017) 1.38
A tumor necrosis factor-alpha-mediated pathway promoting autosomal dominant polycystic kidney disease. Nat Med (2008) 1.38
The ADPKD genes pkd1a/b and pkd2 regulate extracellular matrix formation. Dis Model Mech (2010) 1.36
Molecular diagnostics for autosomal dominant polycystic kidney disease. Nat Rev Nephrol (2010) 1.27
Genetic mechanisms and signaling pathways in autosomal dominant polycystic kidney disease. J Clin Invest (2014) 1.24
Cyclic AMP-mediated cyst expansion. Biochim Biophys Acta (2010) 1.21
Loss of polycystin-1 causes centrosome amplification and genomic instability. Hum Mol Genet (2008) 1.20
A missense mutation in PKD1 attenuates the severity of renal disease. Kidney Int (2011) 1.19
Biliary and pancreatic dysgenesis in mice harboring a mutation in Pkhd1. Am J Pathol (2008) 1.17
Reduced ciliary polycystin-2 in induced pluripotent stem cells from polycystic kidney disease patients with PKD1 mutations. J Am Soc Nephrol (2013) 1.14
Sirtuin 1 inhibition delays cyst formation in autosomal-dominant polycystic kidney disease. J Clin Invest (2013) 1.14
Determinants of renal disease variability in ADPKD. Adv Chronic Kidney Dis (2010) 1.11
Cystic kidney disease: the role of Wnt signaling. Trends Mol Med (2010) 1.10
miR-17~92 miRNA cluster promotes kidney cyst growth in polycystic kidney disease. Proc Natl Acad Sci U S A (2013) 1.10
Dose-dependent effects of sirolimus on mTOR signaling and polycystic kidney disease. J Am Soc Nephrol (2012) 1.10
Emerging evidence of a link between the polycystins and the mTOR pathways. Pathogenetics (2009) 1.09
Pkd2 dosage influences cellular repair responses following ischemia-reperfusion injury. Am J Pathol (2009) 1.07
Infants with Bochdalek diaphragmatic hernia: sibling precurrence and monozygotic twin discordance in a hospital-based malformation surveillance program. Am J Med Genet A (2005) 1.06
Extended follow-up of unruptured intracranial aneurysms detected by presymptomatic screening in patients with autosomal dominant polycystic kidney disease. Clin J Am Soc Nephrol (2011) 1.04
Pkd1 transgenic mice: adult model of polycystic kidney disease with extrarenal and renal phenotypes. Hum Mol Genet (2010) 1.04
Hypertension in autosomal dominant polycystic kidney disease. Adv Chronic Kidney Dis (2010) 1.04
Polycystic kidney disease: pathogenesis and potential therapies. Biochim Biophys Acta (2010) 1.02
Systems biology approach to identify transcriptome reprogramming and candidate microRNA targets during the progression of polycystic kidney disease. BMC Syst Biol (2011) 1.02
The subcellular localization of TRPP2 modulates its function. J Am Soc Nephrol (2008) 1.02
Polycystic kidney diseases: from molecular discoveries to targeted therapeutic strategies. Cell Mol Life Sci (2008) 1.01
Fibrosis and progression of autosomal dominant polycystic kidney disease (ADPKD). Biochim Biophys Acta (2011) 1.01
A polycystin-centric view of cyst formation and disease: the polycystins revisited. Kidney Int (2015) 1.01
Polycystin-1 maturation requires polycystin-2 in a dose-dependent manner. J Clin Invest (2015) 1.00
Diagnosis and management of childhood polycystic kidney disease. Pediatr Nephrol (2010) 0.99
The ubiquitin-specific protease USP47 is a novel beta-TRCP interactor regulating cell survival. Oncogene (2009) 0.97
Hepato-renal pathology in pkd2ws25/- mice, an animal model of autosomal dominant polycystic kidney disease. Am J Pathol (2010) 0.97
Polycystin-1 interacts with inositol 1,4,5-trisphosphate receptor to modulate intracellular Ca2+ signaling with implications for polycystic kidney disease. J Biol Chem (2009) 0.96
Tight junction composition is altered in the epithelium of polycystic kidneys. J Pathol (2008) 0.95
Molecular pathways and therapies in autosomal-dominant polycystic kidney disease. Physiology (Bethesda) (2015) 0.93
The Future of Polycystic Kidney Disease Research--As Seen By the 12 Kaplan Awardees. J Am Soc Nephrol (2015) 0.93
Collecting duct cells that lack normal cilia have mislocalized vasopressin-2 receptors. Am J Physiol Renal Physiol (2011) 0.92
Smac-mimetic-induced epithelial cell death reduces the growth of renal cysts. J Am Soc Nephrol (2013) 0.92
Polycystin-1: a master regulator of intersecting cystic pathways. Trends Mol Med (2014) 0.91
Regulation of STATs by polycystin-1 and their role in polycystic kidney disease. JAKSTAT (2013) 0.91
Vasopressin and disruption of calcium signalling in polycystic kidney disease. Nat Rev Nephrol (2015) 0.89
G-protein signaling modulator 1 deficiency accelerates cystic disease in an orthologous mouse model of autosomal dominant polycystic kidney disease. Proc Natl Acad Sci U S A (2012) 0.89
Cysts of PRKCSH mutated polycystic liver disease patients lack hepatocystin but express Sec63p. Histochem Cell Biol (2008) 0.88
A protein kinase A and Wnt-dependent network regulating an intermediate stage in epithelial tubulogenesis during kidney development. Dev Biol (2012) 0.88
HDAC6 regulates epidermal growth factor receptor (EGFR) endocytic trafficking and degradation in renal epithelial cells. PLoS One (2012) 0.87
Regulation and function of the TAZ transcription co-activator. Int J Biochem Mol Biol (2011) 0.87
Autosomal dominant polycystic kidney disease: recent advances in pathogenesis and potential therapies. Clin Exp Nephrol (2012) 0.86
A non-synonymous mutation in the canine Pkd1 gene is associated with autosomal dominant polycystic kidney disease in Bull Terriers. PLoS One (2011) 0.86
Autophagy and regulation of cilia function and assembly. Cell Death Differ (2014) 0.86
Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic disease. Pediatr Nephrol (2013) 0.86
Mechanoprotection by polycystins against apoptosis is mediated through the opening of stretch-activated K(2P) channels. Cell Rep (2012) 0.86
Detecting the surface localization and cytoplasmic cleavage of membrane-bound proteins. Methods Cell Biol (2009) 0.85
Quantification of Cre-mediated recombination by a novel strategy reveals a stable extra-chromosomal deletion-circle in mice. BMC Biotechnol (2008) 0.85
Retinoic acid-dependent activation of the polycystic kidney disease-1 (PKD1) promoter. Am J Physiol Renal Physiol (2008) 0.85
Pathophysiology of childhood polycystic kidney diseases: new insights into disease-specific therapy. Pediatr Res (2013) 0.84
Therapeutic targeting of BET bromodomain protein, Brd4, delays cyst growth in ADPKD. Hum Mol Genet (2015) 0.84
MAP/ERK kinase kinase 1 (MEKK1) mediates transcriptional repression by interacting with polycystic kidney disease-1 (PKD1) promoter-bound p53 tumor suppressor protein. J Biol Chem (2010) 0.83
The cleaved cytoplasmic tail of polycystin-1 regulates Src-dependent STAT3 activation. J Am Soc Nephrol (2014) 0.83
Pkd2 mesenteric vessels exhibit a primary defect in endothelium-dependent vasodilatation restored by rosiglitazone. Am J Physiol Heart Circ Physiol (2012) 0.82
Polycystin-1 negatively regulates Polycystin-2 expression via the aggresome/autophagosome pathway. J Biol Chem (2014) 0.82
Polycystin-1 expression in fetal, adult and autosomal dominant polycystic kidney. J Korean Med Sci (2006) 0.82
Effect of genotype on the severity and volume progression of polycystic liver disease in autosomal dominant polycystic kidney disease. Nephrol Dial Transplant (2016) 0.81
Kidney: polycystic kidney disease. Wiley Interdiscip Rev Dev Biol (2014) 0.81
Scattered Deletion of PKD1 in Kidneys Causes a Cystic Snowball Effect and Recapitulates Polycystic Kidney Disease. J Am Soc Nephrol (2014) 0.80
Vascular Endothelial Growth Factor C for Polycystic Kidney Diseases. J Am Soc Nephrol (2015) 0.79
The Role of G-Protein-Coupled Receptor Proteolysis Site Cleavage of Polycystin-1 in Renal Physiology and Polycystic Kidney Disease. Cells (2016) 0.79
Novel role of ouabain as a cystogenic factor in autosomal dominant polycystic kidney disease. Am J Physiol Renal Physiol (2013) 0.78
Genome-wide methylation profiling of ADPKD identified epigenetically regulated genes associated with renal cyst development. Hum Genet (2013) 0.78
Inhibition of Activin Signaling Slows Progression of Polycystic Kidney Disease. J Am Soc Nephrol (2016) 0.78
Cyst growth, polycystins, and primary cilia in autosomal dominant polycystic kidney disease. Kidney Res Clin Pract (2014) 0.77
Inhibition of histone deacetylase 6 activity reduces cyst growth in polycystic kidney disease. Kidney Int (2016) 0.77
Experimental therapies and ongoing clinical trials to slow down progression of ADPKD. Curr Hypertens Rev (2013) 0.76
Splicing defects caused by exonic mutations in PKD1 as a new mechanism of pathogenesis in autosomal dominant polycystic kidney disease. RNA Biol (2015) 0.76
Variable Cyst Development in Autosomal Dominant Polycystic Kidney Disease: The Biologic Context. J Am Soc Nephrol (2016) 0.76
Of mice and men: therapeutic mTOR inhibition in polycystic kidney disease. J Am Soc Nephrol (2010) 0.76
Identification of MMP1 as a novel risk factor for intracranial aneurysms in ADPKD using iPSC models. Sci Rep (2016) 0.75
Polycystic kidney disease - where gene dosage counts. F1000Prime Rep (2014) 0.75
Decade in review-polycystic kidney disease: Slowing progression of autosomal dominant polycystic kidney disease. Nat Rev Nephrol (2015) 0.75
Genetic and Epigenetic Regulation of Aortic Aneurysms. Biomed Res Int (2017) 0.75
Far Upstream Element-Binding Protein 1 Binds the 3' Untranslated Region of PKD2 and Suppresses Its Translation. J Am Soc Nephrol (2016) 0.75
Emerging Therapies for Childhood Polycystic Kidney Disease. Front Pediatr (2017) 0.75
A unifying genetic model for facioscapulohumeral muscular dystrophy. Science (2010) 4.87
Pathologic classification of diabetic nephropathy. J Am Soc Nephrol (2010) 3.61
Polycystin-1 and -2 dosage regulates pressure sensing. Cell (2009) 3.36
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. Nat Genet (2006) 3.19
Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss. Nat Genet (2011) 3.16
Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance. Gastroenterology (2004) 2.90
Role of truncating mutations in MME gene in fetomaternal alloimmunisation and antenatal glomerulopathies. Lancet (2004) 2.82
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome. Nat Genet (2012) 2.80
Normal and abnormal development of pulmonary veins: state of the art and correlation with clinical entities. Int J Cardiol (2010) 2.78
Vasopressin directly regulates cyst growth in polycystic kidney disease. J Am Soc Nephrol (2007) 2.71
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. Nat Genet (2012) 2.63
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nat Genet (2010) 2.52
Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. Am J Hum Genet (2005) 2.40
Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. Am J Hum Genet (2006) 2.31
Rubinstein-Taybi syndrome: clinical and molecular overview. Expert Rev Mol Med (2007) 2.17
Characterization of PKD protein-positive exosome-like vesicles. J Am Soc Nephrol (2009) 2.13
Deep sequencing to reveal new variants in pooled DNA samples. Hum Mutat (2009) 2.04
Kidney-specific inactivation of the Pkd1 gene induces rapid cyst formation in developing kidneys and a slow onset of disease in adult mice. Hum Mol Genet (2007) 2.03
Two-color multiplex ligation-dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostoses. Hum Mutat (2004) 1.94
Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplications. Eur J Hum Genet (2006) 1.93
Causes of fecal and urinary incontinence after total mesorectal excision for rectal cancer based on cadaveric surgery: a study from the Cooperative Clinical Investigators of the Dutch total mesorectal excision trial. J Clin Oncol (2008) 1.87
Biliary exosomes influence cholangiocyte regulatory mechanisms and proliferation through interaction with primary cilia. Am J Physiol Gastrointest Liver Physiol (2010) 1.85
Role of the VEGF--a signaling pathway in the glomerulus: evidence for crosstalk between components of the glomerular filtration barrier. Nephron Physiol (2007) 1.80
Defects in cholangiocyte fibrocystin expression and ciliary structure in the PCK rat. Gastroenterology (2003) 1.80
Universal vaccine based on ectodomain of matrix protein 2 of influenza A: Fc receptors and alveolar macrophages mediate protection. J Immunol (2010) 1.79
Expression of podocyte-associated molecules in acquired human kidney diseases. J Am Soc Nephrol (2003) 1.79
Carnosine as a protective factor in diabetic nephropathy: association with a leucine repeat of the carnosinase gene CNDP1. Diabetes (2005) 1.75
Identification of a human CD8+ regulatory T cell subset that mediates suppression through the chemokine CC chemokine ligand 4. Proc Natl Acad Sci U S A (2007) 1.75
Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity. J Clin Invest (2012) 1.74
Chimerism in kidneys, livers and hearts of normal women: implications for transplantation studies. Am J Transplant (2005) 1.74
Pericentrin forms a complex with intraflagellar transport proteins and polycystin-2 and is required for primary cilia assembly. J Cell Biol (2004) 1.73
Copeptin, a surrogate marker for vasopressin, is associated with kidney function decline in subjects with autosomal dominant polycystic kidney disease. Nephrol Dial Transplant (2012) 1.67
Involvement of inducible costimulator in the exaggerated memory B cell and plasma cell generation in systemic lupus erythematosus. Arthritis Rheum (2004) 1.66
Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. Hum Genet (2007) 1.64
Quantitative assessment of hepatic fibrosis in an animal model with magnetic resonance elastography. Magn Reson Med (2007) 1.61
Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3. Hum Mol Genet (2009) 1.61
Antagomir-mediated silencing of endothelial cell specific microRNA-126 impairs ischemia-induced angiogenesis. J Cell Mol Med (2009) 1.59
Uptake of Leishmania major by dendritic cells is mediated by Fcgamma receptors and facilitates acquisition of protective immunity. J Exp Med (2006) 1.59
Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing. J Am Soc Nephrol (2012) 1.57
Basics of cardiac development for the understanding of congenital heart malformations. Pediatr Res (2004) 1.56
Identification, characterization, and localization of a novel kidney polycystin-1-polycystin-2 complex. J Biol Chem (2002) 1.56
Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization. Am J Hum Genet (2002) 1.55
Gene expression profiling in glomeruli from human kidneys with diabetic nephropathy. Am J Kidney Dis (2004) 1.53
Toxic tubular injury in kidneys from Pkd1-deletion mice accelerates cystogenesis accompanied by dysregulated planar cell polarity and canonical Wnt signaling pathways. Hum Mol Genet (2009) 1.53
The pathology of fresh and cryopreserved homograft heart valves: an analysis of forty explanted homograft valves. J Thorac Cardiovasc Surg (2002) 1.52
Macrophage migration inhibitory factor promotes cyst growth in polycystic kidney disease. J Clin Invest (2015) 1.51
Renal mRNA levels as prognostic tools in kidney diseases. J Am Soc Nephrol (2003) 1.49
Hypomorphic NOTCH3 alleles do not cause CADASIL in humans. Hum Mutat (2013) 1.49
Cardiac malformations and myocardial abnormalities in podoplanin knockout mouse embryos: Correlation with abnormal epicardial development. Dev Dyn (2008) 1.43
A polycystin-1 multiprotein complex is disrupted in polycystic kidney disease cells. Mol Biol Cell (2004) 1.39
Integrin signaling via RGD peptides and anti-beta1 antibodies confers resistance to apoptosis in islets of Langerhans. Diabetes (2006) 1.38
Gene expression profile and histopathology of experimental bronchopulmonary dysplasia induced by prolonged oxidative stress. Free Radic Biol Med (2004) 1.38
Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome). Gastroenterology (2006) 1.34
Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement. Nat Genet (2012) 1.34
A critical role for Syk protein tyrosine kinase in Fc receptor-mediated antigen presentation and induction of dendritic cell maturation. J Immunol (2003) 1.34
Primary cilia sensitize endothelial cells for fluid shear stress. Dev Dyn (2008) 1.33
Increased risk of cancer other than melanoma in CDKN2A founder mutation (p16-Leiden)-positive melanoma families. Clin Cancer Res (2008) 1.32
Diagnostic approach and management of Lynch syndrome (hereditary nonpolyposis colorectal carcinoma): a guide for clinicians. CA Cancer J Clin (2006) 1.29
Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. Hum Mutat (2013) 1.27
Analysis of the polycystins in aortic vascular smooth muscle cells. J Am Soc Nephrol (2003) 1.27
Pathogenic sequence for dissecting aneurysm formation in a hypomorphic polycystic kidney disease 1 mouse model. Arterioscler Thromb Vasc Biol (2007) 1.26
Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300. J Med Genet (2007) 1.23
Pro-inflammatory chemokine-chemokine receptor interactions within the Ewing sarcoma microenvironment determine CD8(+) T-lymphocyte infiltration and affect tumour progression. J Pathol (2010) 1.22
Proteolytic cleavage and nuclear translocation of fibrocystin is regulated by intracellular Ca2+ and activation of protein kinase C. J Biol Chem (2006) 1.22
Genetic testing in familial melanoma: uptake and implications. Psychooncology (2008) 1.21
Estrogen signaling is active in cartilaginous tumors: implications for antiestrogen therapy as treatment option of metastasized or irresectable chondrosarcoma. Clin Cancer Res (2005) 1.18
Curcumin inhibits cystogenesis by simultaneous interference of multiple signaling pathways: in vivo evidence from a Pkd1-deletion model. Am J Physiol Renal Physiol (2011) 1.17
Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome. Hum Mol Genet (2003) 1.16
Vegfa protects the glomerular microvasculature in diabetes. Diabetes (2012) 1.16
Association of urinary biomarkers with disease severity in patients with autosomal dominant polycystic kidney disease: a cross-sectional analysis. Am J Kidney Dis (2010) 1.15
Evaluation of diagnostic NOTCH3 immunostaining in CADASIL. Acta Neuropathol (2003) 1.14
Transgenic mice expressing tamoxifen-inducible Cre for somatic gene modification in renal epithelial cells. Genesis (2006) 1.14
Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid. Am J Hum Genet (2011) 1.12
Detecting copy number changes in genomic DNA: MAPH and MLPA. Methods Cell Biol (2004) 1.12
Distinct subcellular expression of endogenous polycystin-2 in the plasma membrane and Golgi apparatus of MDCK cells. Hum Mol Genet (2002) 1.12
Elevated TGFbeta-Smad signalling in experimental Pkd1 models and human patients with polycystic kidney disease. J Pathol (2010) 1.12