Published in Hum Mutat on May 01, 2004
TRPV4 dysfunction promotes renal cystogenesis in autosomal recessive polycystic kidney disease. J Am Soc Nephrol (2013) 1.60
Liver and kidney disease in ciliopathies. Am J Med Genet C Semin Med Genet (2009) 1.53
Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD. J Am Soc Nephrol (2010) 1.52
LPXTG protein InlJ, a newly identified internalin involved in Listeria monocytogenes virulence. Infect Immun (2005) 1.48
Polyductin undergoes notch-like processing and regulated release from primary cilia. Hum Mol Genet (2007) 1.44
Glis3 is associated with primary cilia and Wwtr1/TAZ and implicated in polycystic kidney disease. Mol Cell Biol (2009) 1.18
Biliary and pancreatic dysgenesis in mice harboring a mutation in Pkhd1. Am J Pathol (2008) 1.17
Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease. Clin J Am Soc Nephrol (2010) 1.16
Regulation of transport in the connecting tubule and cortical collecting duct. Compr Physiol (2012) 1.16
Autosomal recessive polycystic kidney disease: a hepatorenal fibrocystic disorder with pleiotropic effects. Pediatrics (2014) 1.14
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. Mol Genet Metab (2009) 1.07
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The spectrum of polycystic kidney disease in children. Adv Chronic Kidney Dis (2011) 0.96
Gli-similar proteins: their mechanisms of action, physiological functions, and roles in disease. Vitam Horm (2012) 0.95
Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD). Hum Genet (2005) 0.90
DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome. Pediatr Nephrol (2013) 0.89
Inhibition of intrahepatic bile duct dilation of the polycystic kidney rat with a novel tyrosine kinase inhibitor gefitinib. Am J Pathol (2006) 0.88
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Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease. Nat Genet (2017) 0.83
MALDI imaging MS reveals candidate lipid markers of polycystic kidney disease. J Lipid Res (2013) 0.83
Transcriptional complexity in autosomal recessive polycystic kidney disease. Clin J Am Soc Nephrol (2014) 0.82
MicroRNAs in the pathogenesis of cystic kidney disease. Curr Opin Pediatr (2015) 0.79
Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease. BMC Med Genet (2015) 0.79
Intragenic duplication in the PHKD1 gene in autosomal recessive polycystic kidney disease. BMC Med Genet (2015) 0.77
Fetal genitourinary imaging. Pediatr Radiol (2012) 0.77
The ciliary protein cystin forms a regulatory complex with necdin to modulate Myc expression. PLoS One (2013) 0.77
Novel Mutation in the PKHD1 Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney Disease. Case Rep Genet (2014) 0.76
Cystic kidney diseases: many ways to form a cyst. Pediatr Nephrol (2012) 0.76
Autosomal recessive polycystic kidney disease. J Neonatal Surg (2014) 0.75
Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis. J Hum Genet (2016) 0.75
Posterior reversible encephalopathy syndrome in a uremic patient with autosomal recessive polycystic kidney disease. CEN Case Rep (2015) 0.75
Transplantation in autosomal recessive polycystic kidney disease: liver and/or kidney? Pediatr Nephrol (2014) 0.75
Autosomal dominant polycystic kidney disease. Lancet (2007) 8.55
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat Genet (2004) 7.45
Volume progression in polycystic kidney disease. N Engl J Med (2006) 7.16
Germ-line mutations in nonsyndromic pheochromocytoma. N Engl J Med (2002) 6.94
Progress and prospects in rat genetics: a community view. Nat Genet (2008) 6.01
Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer. Nat Genet (2012) 5.28
SILAC mouse for quantitative proteomics uncovers kindlin-3 as an essential factor for red blood cell function. Cell (2008) 5.02
Blood pressure in early autosomal dominant polycystic kidney disease. N Engl J Med (2014) 5.01
Two populations of node monocilia initiate left-right asymmetry in the mouse. Cell (2003) 4.73
The mTOR pathway is regulated by polycystin-1, and its inhibition reverses renal cystogenesis in polycystic kidney disease. Proc Natl Acad Sci U S A (2006) 4.56
The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. Nat Genet (2002) 4.54
Kidney-specific inactivation of the KIF3A subunit of kinesin-II inhibits renal ciliogenesis and produces polycystic kidney disease. Proc Natl Acad Sci U S A (2003) 4.47
A critical developmental switch defines the kinetics of kidney cyst formation after loss of Pkd1. Nat Med (2007) 4.40
Polycystin-2 is an intracellular calcium release channel. Nat Cell Biol (2002) 4.37
Inhibition of renal cystic disease development and progression by a vasopressin V2 receptor antagonist. Nat Med (2003) 3.78
Genetic loci influencing kidney function and chronic kidney disease. Nat Genet (2010) 3.75
Autosomal dominant polycystic kidney disease: the last 3 years. Kidney Int (2009) 3.66
Stable isotope labeling by amino acids in cell culture (SILAC) and proteome quantitation of mouse embryonic stem cells to a depth of 5,111 proteins. Mol Cell Proteomics (2007) 3.60
Genetics and pathogenesis of polycystic kidney disease. J Am Soc Nephrol (2002) 3.52
Randomized clinical trial of long-acting somatostatin for autosomal dominant polycystic kidney and liver disease. J Am Soc Nephrol (2010) 3.47
Epithelial-specific Cre/lox recombination in the developing kidney and genitourinary tract. J Am Soc Nephrol (2002) 3.28
Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease. J Am Soc Nephrol (2007) 3.26
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. Am J Hum Genet (2002) 3.21
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. Nat Genet (2006) 3.19
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
Kindlin-2 controls bidirectional signaling of integrins. Genes Dev (2008) 3.15
Acute kidney injury and aberrant planar cell polarity induce cyst formation in mice lacking renal cilia. Hum Mol Genet (2008) 3.14
Effective treatment of an orthologous model of autosomal dominant polycystic kidney disease. Nat Med (2004) 3.09
PKD1 induces p21(waf1) and regulation of the cell cycle via direct activation of the JAK-STAT signaling pathway in a process requiring PKD2. Cell (2002) 3.09
Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease. Kidney Int (2009) 2.99
Mechanisms of Disease: autosomal dominant and recessive polycystic kidney diseases. Nat Clin Pract Nephrol (2006) 2.95
Effectiveness of vasopressin V2 receptor antagonists OPC-31260 and OPC-41061 on polycystic kidney disease development in the PCK rat. J Am Soc Nephrol (2005) 2.92
TRPP2 and TRPV4 form a polymodal sensory channel complex. J Cell Biol (2008) 2.88
Kidney volume and functional outcomes in autosomal dominant polycystic kidney disease. Clin J Am Soc Nephrol (2012) 2.78
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. Am J Hum Genet (2008) 2.74
Polycystin-2 traffics to cilia independently of polycystin-1 by using an N-terminal RVxP motif. J Cell Sci (2006) 2.72
Vasopressin directly regulates cyst growth in polycystic kidney disease. J Am Soc Nephrol (2007) 2.71
Loss of cilia suppresses cyst growth in genetic models of autosomal dominant polycystic kidney disease. Nat Genet (2013) 2.71
Octreotide inhibits hepatic cystogenesis in a rodent model of polycystic liver disease by reducing cholangiocyte adenosine 3',5'-cyclic monophosphate. Gastroenterology (2006) 2.68
Lysine-specific demethylase 1 is strongly expressed in poorly differentiated neuroblastoma: implications for therapy. Cancer Res (2009) 2.65
Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary cilia. Hum Mol Genet (2003) 2.55
Lysine-specific demethylase 1 (LSD1) is highly expressed in ER-negative breast cancers and a biomarker predicting aggressive biology. Carcinogenesis (2009) 2.54
Leukocyte adhesion deficiency-III is caused by mutations in KINDLIN3 affecting integrin activation. Nat Med (2009) 2.51
Loss of talin1 in platelets abrogates integrin activation, platelet aggregation, and thrombus formation in vitro and in vivo. J Exp Med (2007) 2.43
Evaluation of urine biomarkers of kidney injury in polycystic kidney disease. Kidney Int (2012) 2.39
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy. Nat Genet (2005) 2.38
The Kindlins: subcellular localization and expression during murine development. Exp Cell Res (2006) 2.36
DCDC2 is associated with reading disability and modulates neuronal development in the brain. Proc Natl Acad Sci U S A (2005) 2.35
Optimization of quantitative MGMT promoter methylation analysis using pyrosequencing and combined bisulfite restriction analysis. J Mol Diagn (2007) 2.35
Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD). Medicine (Baltimore) (2006) 2.34
Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations. Proc Natl Acad Sci U S A (2002) 2.29
Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15. Hum Mol Genet (2003) 2.27
Cyst formation and activation of the extracellular regulated kinase pathway after kidney specific inactivation of Pkd1. Hum Mol Genet (2008) 2.23
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. Nat Genet (2009) 2.22
LAD-1/variant syndrome is caused by mutations in FERMT3. Blood (2008) 2.22
Cyst number but not the rate of cystic growth is associated with the mutated gene in autosomal dominant polycystic kidney disease. J Am Soc Nephrol (2006) 2.21
Loss of oriented cell division does not initiate cyst formation. J Am Soc Nephrol (2009) 2.20
Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin. Brain (2011) 2.15
Characterization of PKD protein-positive exosome-like vesicles. J Am Soc Nephrol (2009) 2.13
Molecular pathogenesis of ADPKD: the polycystin complex gets complex. Kidney Int (2005) 2.13
Hereditary nonpolyposis colorectal cancer (HNPCC)/Lynch syndrome. Dtsch Arztebl Int (2013) 2.09
Real-time fMRI of temporolimbic regions detects amygdala activation during single-trial self-induced sadness. Neuroimage (2003) 2.09
Novel function for blood platelets and podoplanin in developmental separation of blood and lymphatic circulation. Blood (2010) 2.04
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome). Nat Genet (2005) 2.04
Use of 111in-capromab pendetide immunoscintigraphy to image localized prostate cancer foci within the prostate gland. J Urol (2009) 2.03
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome. Hum Mutat (2008) 2.03
Phosphorylation of histone H3T6 by PKCbeta(I) controls demethylation at histone H3K4. Nature (2010) 2.01
Mechanical stimuli induce cleavage and nuclear translocation of the polycystin-1 C terminus. J Clin Invest (2004) 2.00
Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study. Lancet Oncol (2010) 1.98
A functional floxed allele of Pkd1 that can be conditionally inactivated in vivo. J Am Soc Nephrol (2004) 1.97
Mutations in SEC63 cause autosomal dominant polycystic liver disease. Nat Genet (2004) 1.96
Loss of polycystin-1 in human cyst-lining epithelia leads to ciliary dysfunction. J Am Soc Nephrol (2006) 1.95
Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation. Arch Neurol (2003) 1.81
The RGD motif in fibronectin is essential for development but dispensable for fibril assembly. J Cell Biol (2007) 1.81
Defects in cholangiocyte fibrocystin expression and ciliary structure in the PCK rat. Gastroenterology (2003) 1.80
Primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis. Clin J Am Soc Nephrol (2011) 1.79
Loss of Kindlin-1 causes skin atrophy and lethal neonatal intestinal epithelial dysfunction. PLoS Genet (2008) 1.78
Molecular advances in autosomal dominant polycystic kidney disease. Adv Chronic Kidney Dis (2010) 1.77