Published in Hum Mutat on September 01, 2004
The ubiquitin system, disease, and drug discovery. BMC Biochem (2008) 1.73
Alterations in VHL as potential biomarkers in renal-cell carcinoma. Nat Rev Clin Oncol (2010) 1.55
Quantitative image analysis identifies pVHL as a key regulator of microtubule dynamic instability. J Cell Biol (2010) 1.10
VHL Type 2B gene mutation moderates HIF dosage in vitro and in vivo. Oncogene (2009) 0.96
Genetic basis for kidney cancer: opportunity for disease-specific approaches to therapy. Expert Opin Biol Ther (2008) 0.96
Germline mutations in the von Hippel-Lindau disease (VHL) gene in mainland Chinese families. J Cancer Res Clin Oncol (2008) 0.93
Spinal cord hemangioblastoma : diagnosis and clinical outcome after surgical treatment. J Korean Neurosurg Soc (2007) 0.92
VHL frameshift mutation as target of nonsense-mediated mRNA decay in Drosophila melanogaster and human HEK293 cell line. J Biomed Biotechnol (2010) 0.84
An integrated computational approach can classify VHL missense mutations according to risk of clear cell renal carcinoma. Hum Mol Genet (2014) 0.83
Cancer-causing mutations in a novel transcription-dependent nuclear export motif of VHL abrogate oxygen-dependent degradation of hypoxia-inducible factor. Mol Cell Biol (2007) 0.80
Clinical and molecular features associated with cystic visceral lesions in von hippel-lindau disease. Open Ophthalmol J (2012) 0.80
Improved detection of germline mutations in Korean VHL patients by multiple ligation-dependent probe amplification analysis. J Korean Med Sci (2009) 0.79
Low VHL mRNA expression is associated with more aggressive tumor features of papillary thyroid carcinoma. PLoS One (2014) 0.78
Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis. Cancer Res (2014) 0.77
Clinical and molecular characterization of Brazilian families with von Hippel-Lindau disease: a need for delineating genotype-phenotype correlation. Fam Cancer (2010) 0.76
Hereditary renal cell carcinoma: genetics, clinical features, and surgical considerations. World J Urol (2014) 0.76
Familial renal cancer: molecular genetics and surgical management. Int J Surg Oncol (2011) 0.76
Three novel germ-line VHL mutations in Hungarian von Hippel-Lindau patients, including a nonsense mutation in a fifteen-year-old boy with renal cell carcinoma. BMC Med Genet (2013) 0.75
Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome. Chin J Cancer (2016) 0.75
A case of carotid body paraganglioma and haemangioblastoma of the spinal cord in a patient with the N131K missense mutation in the VHL gene. Neurol Sci (2011) 0.75
Risk of new tumors in von Hippel-Lindau patients depends on age and genotype. Genet Med (2015) 0.75
Shorter telomere length increases age-related tumor risks in von Hippel-Lindau disease patients. Cancer Med (2017) 0.75
Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nat Genet (2003) 11.67
Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res (2009) 10.08
Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24. Nat Genet (2007) 9.88
Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial. Lancet (2011) 6.77
Arginine methylation an emerging regulator of protein function. Mol Cell (2005) 6.49
Complement-binding anti-HLA antibodies and kidney-allograft survival. N Engl J Med (2013) 6.31
Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet (2004) 6.15
A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population. Nat Genet (2010) 4.96
Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. JAMA (2011) 4.84
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nat Genet (2013) 4.35
Locus Reference Genomic sequences: an improved basis for describing human DNA variants. Genome Med (2010) 4.19
Mutations of polycomb-associated gene ASXL1 in myelodysplastic syndromes and chronic myelomonocytic leukaemia. Br J Haematol (2009) 4.18
Acquired and genetic complement abnormalities play a critical role in dense deposit disease and other C3 glomerulopathies. Kidney Int (2012) 3.99
Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. Clin Cancer Res (2006) 3.81
Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome. N Engl J Med (2008) 3.76
Target RNA motif and target mRNAs of the Quaking STAR protein. Nat Struct Mol Biol (2005) 3.70
Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer. JAMA (2007) 3.62
Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncol (2009) 3.60
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. Nature (2011) 3.53
Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations. Ann Intern Med (2004) 3.32
Octogenarians reaching end-stage renal disease: cohort study of decision-making and clinical outcomes. J Am Soc Nephrol (2003) 3.25
Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome. J Med Genet (2006) 3.24
Genetic testing in pheochromocytoma or functional paraganglioma. J Clin Oncol (2005) 3.20
RNA-binding proteins in human genetic disease. Trends Genet (2008) 3.14
Hepatitis C virus core protein inhibits microsomal triglyceride transfer protein activity and very low density lipoprotein secretion: a model of viral-related steatosis. FASEB J (2002) 3.06
Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease. Kidney Int (2009) 2.99
Gene expression classification of colon cancer into molecular subtypes: characterization, validation, and prognostic value. PLoS Med (2013) 2.96
Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase. Hum Mutat (2009) 2.93
An antioxidant response phenotype shared between hereditary and sporadic type 2 papillary renal cell carcinoma. Cancer Cell (2011) 2.78
Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis. J Am Soc Nephrol (2011) 2.63
A proteomic analysis of arginine-methylated protein complexes. Mol Cell Proteomics (2003) 2.59
Bevacizumab in patients with hereditary hemorrhagic telangiectasia and severe hepatic vascular malformations and high cardiac output. JAMA (2012) 2.56
PHD2 mutation and congenital erythrocytosis with paraganglioma. N Engl J Med (2008) 2.56
von Hippel-Lindau disease: a clinical and scientific review. Eur J Hum Genet (2011) 2.45
Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients. EMBO J (2010) 2.43
Cyst infections in patients with autosomal dominant polycystic kidney disease. Clin J Am Soc Nephrol (2009) 2.42
Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant. Kidney Int (2009) 2.40
Prognostic value of renal vein and inferior vena cava involvement in renal cell carcinoma. Eur Urol (2008) 2.37
Biochemical response to ursodeoxycholic acid and long-term prognosis in primary biliary cirrhosis. Hepatology (2008) 2.36
RNF8- and RNF168-dependent degradation of KDM4A/JMJD2A triggers 53BP1 recruitment to DNA damage sites. EMBO J (2012) 2.34
The Y deletion gr/gr and susceptibility to testicular germ cell tumor. Am J Hum Genet (2005) 2.26
Tudor domains bind symmetrical dimethylated arginines. J Biol Chem (2005) 2.23
Genome-wide linkage screen for testicular germ cell tumour susceptibility loci. Hum Mol Genet (2006) 2.23
Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. Hum Mutat (2003) 2.10
Sam68, the KH domain-containing superSTAR. Biochim Biophys Acta (2003) 2.08
Locus-specific mutation databases: pitfalls and good practice based on the p53 experience. Nat Rev Cancer (2006) 2.05
Low mitochondrial respiratory chain content correlates with tumor aggressiveness in renal cell carcinoma. Carcinogenesis (2002) 2.04
Methylation of Tat by PRMT6 regulates human immunodeficiency virus type 1 gene expression. J Virol (2005) 2.02
Prevalence of renal cell carcinoma in patients with autosomal dominant polycystic kidney disease and chronic renal failure. Urology (2009) 2.00
CTG repeat instability and size variation timing in DNA repair-deficient mice. EMBO J (2003) 1.96
Combined mutations of ASXL1, CBL, FLT3, IDH1, IDH2, JAK2, KRAS, NPM1, NRAS, RUNX1, TET2 and WT1 genes in myelodysplastic syndromes and acute myeloid leukemias. BMC Cancer (2010) 1.93
Sam68 RNA binding protein is an in vivo substrate for protein arginine N-methyltransferase 1. Mol Biol Cell (2003) 1.87
Paxillin serves as an ERK-regulated scaffold for coordinating FAK and Rac activation in epithelial morphogenesis. Mol Cell (2004) 1.86
Phosphorylation-dependent paxillin-ERK association mediates hepatocyte growth factor-stimulated epithelial morphogenesis. Mol Cell (2003) 1.83
Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes. J Am Soc Nephrol (2002) 1.79
Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5. Diabetes (2005) 1.79
The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia. Hum Mutat (2013) 1.78
A preoperative prognostic model for patients treated with nephrectomy for renal cell carcinoma. Eur Urol (2008) 1.77
A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin. J Am Soc Nephrol (2003) 1.77
Sexual dimorphism in environmental epigenetic programming. Mol Cell Endocrinol (2009) 1.74
New implications for the QUAKING RNA binding protein in human disease. J Neurosci Res (2008) 1.71
The International Testicular Cancer Linkage Consortium: a clinicopathologic descriptive analysis of 461 familial malignant testicular germ cell tumor kindred. Urol Oncol (2009) 1.70
Germline BAP1 mutations predispose to renal cell carcinomas. Am J Hum Genet (2013) 1.69
The effect of ursodeoxycholic acid therapy on the natural course of primary biliary cirrhosis. Gastroenterology (2005) 1.67
Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations. Pediatrics (2009) 1.67
Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease. Hum Mutat (2009) 1.67
Genome profiling of chronic myelomonocytic leukemia: frequent alterations of RAS and RUNX1 genes. BMC Cancer (2008) 1.66
A complete mutation screen of the ADPKD genes by DHPLC. Kidney Int (2002) 1.66
ESRD caused by nephrolithiasis: prevalence, mechanisms, and prevention. Am J Kidney Dis (2004) 1.66
Functional analysis of Peutz-Jeghers mutations reveals that the LKB1 C-terminal region exerts a crucial role in regulating both the AMPK pathway and the cell polarity. Hum Mol Genet (2005) 1.64
Protection of p27(Kip1) mRNA by quaking RNA binding proteins promotes oligodendrocyte differentiation. Nat Neurosci (2004) 1.62
Relative frequency and morphology of cancers in STK11 mutation carriers. Gastroenterology (2004) 1.62
Blood flow quantification with contrast-enhanced US: "entrance in the section" phenomenon--phantom and rabbit study. Radiology (2003) 1.61
Very long-term follow-up of living kidney donors. Transpl Int (2012) 1.61
Arginine methylation of MRE11 by PRMT1 is required for DNA damage checkpoint control. Genes Dev (2005) 1.61
Placental contribution to the origins of sexual dimorphism in health and diseases: sex chromosomes and epigenetics. Biol Sex Differ (2013) 1.60
Enzyme replacement therapy in Anderson-Fabry's disease: beneficial clinical effect on vital organ function. Nephrol Dial Transplant (2003) 1.60
SAM68 regulates neuronal activity-dependent alternative splicing of neurexin-1. Cell (2011) 1.60
Defining the RGG/RG motif. Mol Cell (2013) 1.59
Retention of Plasmodium falciparum ring-infected erythrocytes in the slow, open microcirculation of the human spleen. Blood (2008) 1.58
C57BL/6J and A/J mice fed a high-fat diet delineate components of metabolic syndrome. Obesity (Silver Spring) (2007) 1.58
Genetic factors of susceptibility and of severity in primary biliary cirrhosis. J Hepatol (2008) 1.56
Msh3 is a limiting factor in the formation of intergenerational CTG expansions in DM1 transgenic mice. Hum Genet (2006) 1.55
Improved detection of hepatic metastases with pulse-inversion US during the liver-specific phase of SHU 508A: multicenter study. Radiology (2003) 1.54
Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia. Hum Mutat (2005) 1.54
Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network. Genet Med (2007) 1.52
Evaluation of previously nonscreened hereditary hemorrhagic telangiectasia patients shows frequent liver involvement and early cardiac consequences. Hepatology (2008) 1.51
Lithium-induced nephropathy: Rate of progression and prognostic factors. Kidney Int (2003) 1.48
Impact of cytomorphological detection of circulating tumor cells in patients with liver cancer. Hepatology (2004) 1.48
Nutritional epigenomics of metabolic syndrome: new perspective against the epidemic. Diabetes (2005) 1.48
Tyrosine phosphorylation of sam68 by breast tumor kinase regulates intranuclear localization and cell cycle progression. J Biol Chem (2005) 1.47
Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype. Lancet (2003) 1.47
The formin homology 1 domain modulates the actin nucleation and bundling activity of Arabidopsis FORMIN1. Plant Cell (2005) 1.46
CTG trinucleotide repeat "big jumps": large expansions, small mice. PLoS Genet (2007) 1.46
Inhibition of podocyte FAK protects against proteinuria and foot process effacement. J Am Soc Nephrol (2010) 1.44
Colonoscopic screening of first-degree relatives of patients with large adenomas: increased risk of colorectal tumors. Gastroenterology (2007) 1.44