Published in Hum Mol Genet on January 01, 2002
Trafficking of TRPP2 by PACS proteins represents a novel mechanism of ion channel regulation. EMBO J (2005) 2.12
Pericentrin forms a complex with intraflagellar transport proteins and polycystin-2 and is required for primary cilia assembly. J Cell Biol (2004) 1.73
Native polycystin 2 functions as a plasma membrane Ca2+-permeable cation channel in renal epithelia. Mol Cell Biol (2003) 1.67
Polycystin-2 immunolocalization and function in zebrafish. J Am Soc Nephrol (2006) 1.50
Identification of an N-terminal glycogen synthase kinase 3 phosphorylation site which regulates the functional localization of polycystin-2 in vivo and in vitro. Hum Mol Genet (2006) 1.36
The versatile nature of the calcium-permeable cation channel TRPP2. EMBO Rep (2006) 1.34
A conserved signal and GTPase complex are required for the ciliary transport of polycystin-1. Mol Biol Cell (2011) 1.25
Genetic mechanisms and signaling pathways in autosomal dominant polycystic kidney disease. J Clin Invest (2014) 1.24
Cell biology of polycystin-2. Cell Signal (2006) 1.21
A polycystin-2 (TRPP2) dimerization domain essential for the function of heteromeric polycystin complexes. EMBO J (2010) 1.18
Subcellular localization and trafficking of polycystins. Pflugers Arch (2005) 1.16
Activation of TRPP2 through mDia1-dependent voltage gating. EMBO J (2008) 1.06
Ciliary dysfunction in polycystic kidney disease: an emerging model with polarizing potential. Front Biosci (2008) 0.97
The role for HNF-1beta-targeted collectrin in maintenance of primary cilia and cell polarity in collecting duct cells. PLoS One (2007) 0.96
Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD). Hum Genet (2005) 0.90
Cellular and molecular function of mucolipins (TRPML) and polycystin 2 (TRPP2). Pflugers Arch (2005) 0.85
Cilium, centrosome and cell cycle regulation in polycystic kidney disease. Biochim Biophys Acta (2011) 0.85
Distinct protein domains regulate ciliary targeting and function of C. elegans PKD-2. Exp Cell Res (2007) 0.84
Impaired formation of desmosomal junctions in ADPKD epithelia. Histochem Cell Biol (2005) 0.84
New insights into ciliary function: kidney cysts and photoreceptors. Proc Natl Acad Sci U S A (2003) 0.84
Polycystin-2--an intracellular or plasma membrane channel? Naunyn Schmiedebergs Arch Pharmacol (2005) 0.82
A microbial TRP-like polycystic-kidney-disease-related ion channel gene. Biochem J (2005) 0.82
Naringenin inhibits the growth of Dictyostelium and MDCK-derived cysts in a TRPP2 (polycystin-2)-dependent manner. Br J Pharmacol (2014) 0.82
Pathophysiology of colorectal peritoneal carcinomatosis: Role of the peritoneum. World J Gastroenterol (2016) 0.79
Polycystins and cellular Ca2+ signaling. Cell Mol Life Sci (2012) 0.78
CSPP-L Associates with the Desmosome of Polarized Epithelial Cells and Is Required for Normal Spheroid Formation. PLoS One (2015) 0.76
Intracellular calcium release modulates polycystin-2 trafficking. BMC Nephrol (2013) 0.76
Pathologic classification of diabetic nephropathy. J Am Soc Nephrol (2010) 3.61
Polycystin-1 and -2 dosage regulates pressure sensing. Cell (2009) 3.36
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
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
Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease. Hum Mol Genet (2004) 2.47
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
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
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
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
Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. Hum Genet (2007) 1.64
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
Human leukocyte antigen class I, MHC class I chain-related molecule A, and CD8+/regulatory T-cell ratio: which variable determines survival of cervical cancer patients? Clin Cancer Res (2008) 1.54
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
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
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
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
Genetic testing in familial melanoma: uptake and implications. Psychooncology (2008) 1.21
Image-guided tumor resection using real-time near-infrared fluorescence in a syngeneic rat model of primary breast cancer. Breast Cancer Res Treat (2010) 1.17
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
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
Elevated TGFbeta-Smad signalling in experimental Pkd1 models and human patients with polycystic kidney disease. J Pathol (2010) 1.12
Potential for glomerular C4d as an indicator of thrombotic microangiopathy in lupus nephritis. Arthritis Rheum (2008) 1.11
Fidelity and evolution of recurrent FSGS in renal allografts. J Am Soc Nephrol (2008) 1.11
Unclassified variants in disease-causing genes: nonuniformity of genetic testing and counselling, a proposal for guidelines. Eur J Hum Genet (2005) 1.10
Dominant hemochromatosis due to N144H mutation of SLC11A3: clinical and biological characteristics. Blood Cells Mol Dis (2003) 1.10
Dose-dependent effects of sirolimus on mTOR signaling and polycystic kidney disease. J Am Soc Nephrol (2012) 1.10
Diagnosis of genetic abnormalities in developmentally delayed patients: a new strategy combining MLPA and array-CGH. Am J Med Genet A (2007) 1.08
Teaching molecular genetics: chapter 2-Transgenesis and gene targeting: mouse models to study gene function and expression. Pediatr Nephrol (2006) 1.08
An XX male with the sex-determining region Y gene inserted in the long arm of chromosome 16. Fertil Steril (2006) 1.06
Exploring the transcriptome of ciliated cells using in silico dissection of human tissues. PLoS One (2012) 1.06
Primary cilia organization reflects polarity in the growth plate and implies loss of polarity and mosaicism in osteochondroma. Lab Invest (2010) 1.05
A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first. Eur J Hum Genet (2009) 1.05
Clinical and biochemical characteristics of a male patient with a novel homozygous STAT5b mutation. J Clin Endocrinol Metab (2006) 1.05
Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene. Am J Hum Genet (2010) 1.04
Selective loss of podoplanin protein expression accompanies proteinuria and precedes alterations in podocyte morphology in a spontaneous proteinuric rat model. Am J Pathol (2008) 1.04
Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: splice site mutations and exonic deletions account for more than half of the mutations. Eur J Hum Genet (2005) 1.04
Three new families with arterial tortuosity syndrome. Am J Med Genet A (2004) 1.02
Molecular comparison of calcineurin inhibitor-induced fibrogenic responses in protocol renal transplant biopsies. J Am Soc Nephrol (2006) 1.02
Expression of surfactant protein-C, S100A8, S100A9, and B cell markers in renal allografts: investigation of the prognostic value. J Am Soc Nephrol (2005) 1.01
An urgent need for a change in policy revealed by a study on prenatal testing for Duchenne muscular dystrophy. Eur J Hum Genet (2012) 1.01
Improvement of extraction and processing of RNA from renal biopsies. Kidney Int (2004) 1.00
Aberrant polycystin-1 expression results in modification of activator protein-1 activity, whereas Wnt signaling remains unaffected. J Biol Chem (2004) 1.00
Lacunar infarcts are the main correlate with cognitive dysfunction in CADASIL. Stroke (2007) 1.00
The clinical spectrum of complete FBN1 allele deletions. Eur J Hum Genet (2010) 1.00
Hypotheses on the etiology of antineutrophil cytoplasmic autoantibody associated vasculitis: the cause is hidden, but the result is known. Clin J Am Soc Nephrol (2007) 1.00
Early onset albuminuria in Dahl rats is a polygenetic trait that is independent from salt loading. Physiol Genomics (2003) 0.99
Exome sequencing identifies a branch point variant in Aarskog-Scott syndrome. Hum Mutat (2012) 0.99
No effect of enalapril on progression in autosomal dominant polycystic kidney disease. Nephrol Dial Transplant (2003) 0.99
Genetic linkage of albuminuria and renal injury in Dahl salt-sensitive rats on a high-salt diet: comparison with spontaneously hypertensive rats. Physiol Genomics (2004) 0.98
Increased activity of activator protein-1 transcription factor components ATF2, c-Jun, and c-Fos in human and mouse autosomal dominant polycystic kidney disease. J Am Soc Nephrol (2005) 0.98