Published in Hum Mutat on February 01, 2006
Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res (2009) 10.08
Genetic evidence and integration of various data sources for classifying uncertain variants into a single model. Hum Mutat (2008) 2.55
Prediction and assessment of splicing alterations: implications for clinical testing. Hum Mutat (2008) 1.73
Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools. PLoS Genet (2016) 1.53
Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer. Am J Hum Genet (2007) 1.50
Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics. Hum Mutat (2009) 1.35
Comparative in silico analyses and experimental validation of novel splice site and missense mutations in the genes MLH1 and MSH2. J Cancer Res Clin Oncol (2010) 1.14
In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects. BMC Genomics (2006) 1.08
Genotype to phenotype: analyzing the effects of inherited mutations in colorectal cancer families. Mutat Res (2009) 1.00
The association between genetic variants in hMLH1 and hMSH2 and the development of sporadic colorectal cancer in the Danish population. BMC Med Genet (2008) 0.97
Aberrant splice variants of HAS1 (Hyaluronan Synthase 1) multimerize with and modulate normally spliced HAS1 protein: a potential mechanism promoting human cancer. J Biol Chem (2009) 0.91
Clinical correlation and molecular evaluation confirm that the MLH1 p.Arg182Gly (c.544A>G) mutation is pathogenic and causes Lynch syndrome. Fam Cancer (2012) 0.90
Determining the functional significance of mismatch repair gene missense variants using biochemical and cellular assays. Hered Cancer Clin Pract (2012) 0.89
Functional characterization of rare missense mutations in MLH1 and MSH2 identified in Danish colorectal cancer patients. Fam Cancer (2009) 0.82
Determination of splice-site mutations in Lynch syndrome (hereditary non-polyposis colorectal cancer) patients using functional splicing assay. Fam Cancer (2009) 0.82
Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review. J Mol Diagn (2009) 0.82
Missense mutations of MLH1 and MSH2 genes detected in patients with gastrointestinal cancer are associated with exonic splicing enhancers and silencers. Oncol Lett (2013) 0.81
Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses. Mol Genet Genomic Med (2015) 0.81
Identification and surveillance of 19 Lynch syndrome families in southern Italy: report of six novel germline mutations and a common founder mutation. Fam Cancer (2011) 0.78
Exon first nucleotide mutations in splicing: evaluation of in silico prediction tools. PLoS One (2014) 0.78
Alteration of introns in a hyaluronan synthase 1 (HAS1) minigene convert Pre-mRNA [corrected] splicing to the aberrant pattern in multiple myeloma (MM): MM patients harbor similar changes. PLoS One (2013) 0.78
The MLH1 2101C>A (Q701K) variant increases the risk of gastric cancer in Chinese males. BMC Gastroenterol (2011) 0.78
Cancer predisposition genes: molecular mechanisms and clinical impact on personalized cancer care: examples of Lynch and HBOC syndromes. Acta Pharmacol Sin (2015) 0.77
Non-truncating hMLH1 variants identified in Slovenian gastric cancer patients are not associated with Lynch Syndrome: a functional analysis report. Fam Cancer (2011) 0.77
Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms. PLoS One (2013) 0.77
Expression and regulation of a low-density lipoprotein receptor exon 12 splice variant. J Neurochem (2010) 0.76
First description of mutational analysis of MLH1, MSH2 and MSH6 in Algerian families with suspected Lynch syndrome. Fam Cancer (2017) 0.75
Aberrant splicing caused by a MLH1 splice donor site mutation found in a young Japanese patient with Lynch syndrome. Fam Cancer (2012) 0.75
FOLFIRINOX versus gemcitabine for metastatic pancreatic cancer. N Engl J Med (2011) 24.32
Generation of breast cancer stem cells through epithelial-mesenchymal transition. PLoS One (2008) 8.97
Metastasis: a question of life or death. Nat Rev Cancer (2006) 6.26
Induction of EMT by twist proteins as a collateral effect of tumor-promoting inactivation of premature senescence. Cancer Cell (2008) 5.88
Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma. Nature (2008) 5.32
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
Tumor protein 53-induced nuclear protein 1 expression is repressed by miR-155, and its restoration inhibits pancreatic tumor development. Proc Natl Acad Sci U S A (2007) 4.04
Retracted Interleukin 17 acts in synergy with B cell-activating factor to influence B cell biology and the pathophysiology of systemic lupus erythematosus. Nat Immunol (2009) 3.84
RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies. Am J Hum Genet (2007) 3.63
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
Performance of the aspartate aminotransferase-to-platelet ratio index for the staging of hepatitis C-related fibrosis: an updated meta-analysis. Hepatology (2011) 3.38
Mutation of MEF2A in an inherited disorder with features of coronary artery disease. Science (2003) 3.34
Regulatory T cells recruited through CCL22/CCR4 are selectively activated in lymphoid infiltrates surrounding primary breast tumors and lead to an adverse clinical outcome. Cancer Res (2009) 3.31
Genetic testing in pheochromocytoma or functional paraganglioma. J Clin Oncol (2005) 3.20
Association of alcohol consumption and HIV surrogate markers in participants of the swiss HIV cohort study. J Acquir Immune Defic Syndr (2013) 3.02
Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis. Science (2004) 3.01
Impact of FOLFIRINOX compared with gemcitabine on quality of life in patients with metastatic pancreatic cancer: results from the PRODIGE 4/ACCORD 11 randomized trial. J Clin Oncol (2012) 2.92
Identification of an angiogenic factor that when mutated causes susceptibility to Klippel-Trenaunay syndrome. Nature (2004) 2.90
Bevacizumab in patients with hereditary hemorrhagic telangiectasia and severe hepatic vascular malformations and high cardiac output. JAMA (2012) 2.56
A switch in the expression of embryonic EMT-inducers drives the development of malignant melanoma. Cancer Cell (2013) 2.46
Exposure to diagnostic radiation and risk of breast cancer among carriers of BRCA1/2 mutations: retrospective cohort study (GENE-RAD-RISK). BMJ (2012) 2.44
Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. PLoS Genet (2013) 2.39
A dielectric polymer with high electric energy density and fast discharge speed. Science (2006) 2.30
Real-time PCR based on SYBR-Green I fluorescence: an alternative to the TaqMan assay for a relative quantification of gene rearrangements, gene amplifications and micro gene deletions. BMC Biotechnol (2003) 2.05
Interleukin-6, interleukin-10, and vascular endothelial growth factor in metastatic renal cell carcinoma: prognostic value of interleukin-6--from the Groupe Francais d'Immunotherapie. J Clin Oncol (2004) 2.05
Quantification of increased cellularity during inflammatory demyelination. Brain (2011) 2.05
Mechanisms by which SCN5A mutation N1325S causes cardiac arrhythmias and sudden death in vivo. Cardiovasc Res (2004) 2.04
Tumorigenesis suppressor Pdcd4 down-regulates mitogen-activated protein kinase kinase kinase kinase 1 expression to suppress colon carcinoma cell invasion. Mol Cell Biol (2006) 2.02
Towards precise classification of cancers based on robust gene functional expression profiles. BMC Bioinformatics (2005) 2.01
FtsA forms actin-like protofilaments. EMBO J (2012) 2.00
Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction. Cancer Res (2010) 1.90
Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARgamma pathway as a therapeutic target in Friedreich's ataxia. Hum Mol Genet (2009) 1.85
Fibroblast growth factor homologous factors control neuronal excitability through modulation of voltage-gated sodium channels. Neuron (2007) 1.84
Oral contraceptives and breast cancer risk in the international BRCA1/2 carrier cohort study: a report from EMBRACE, GENEPSO, GEO-HEBON, and the IBCCS Collaborating Group. J Clin Oncol (2007) 1.83
Regular cellular distribution of plasmids by oscillating and filament-forming ParA ATPase of plasmid pB171. Mol Microbiol (2006) 1.82
Human telomeric position effect is determined by chromosomal context and telomeric chromatin integrity. EMBO Rep (2002) 1.79
Oncogenic cooperation between H-Twist and N-Myc overrides failsafe programs in cancer cells. Cancer Cell (2004) 1.71
Germline BAP1 mutations predispose to renal cell carcinomas. Am J Hum Genet (2013) 1.69
ATPase activity of p97-valosin-containing protein (VCP). D2 mediates the major enzyme activity, and D1 contributes to the heat-induced activity. J Biol Chem (2002) 1.66
Transcription factor MEF2A mutations in patients with coronary artery disease. Hum Mol Genet (2004) 1.65
Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a Chinese family. J Mol Med (Berl) (2005) 1.63
Anthocyanin prevents CD40-activated proinflammatory signaling in endothelial cells by regulating cholesterol distribution. Arterioscler Thromb Vasc Biol (2006) 1.63
Gene expression study on peripheral blood identifies progranulin mutations. Ann Neurol (2008) 1.59
Inactivation of TIF1gamma cooperates with Kras to induce cystic tumors of the pancreas. PLoS Genet (2009) 1.55
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
Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers. Hum Mol Genet (2011) 1.51
Crystal structure of human RANKL complexed with its decoy receptor osteoprotegerin. J Immunol (2012) 1.50
Plasma S-adenosylhomocysteine is a better biomarker of atherosclerosis than homocysteine in apolipoprotein E-deficient mice fed high dietary methionine. J Nutr (2008) 1.50
Influence of neuroblastoma stage on serum-based detection of MYCN amplification. Pediatr Blood Cancer (2009) 1.49
A novel GSK-3 beta-C/EBP alpha-miR-122-insulin-like growth factor 1 receptor regulatory circuitry in human hepatocellular carcinoma. Hepatology (2010) 1.49
EMT inducers catalyze malignant transformation of mammary epithelial cells and drive tumorigenesis towards claudin-low tumors in transgenic mice. PLoS Genet (2012) 1.47
Gadd45a activation protects melanoma cells from ultraviolet B-induced apoptosis. J Invest Dermatol (2007) 1.47
Prevention of cardiac hypertrophy and heart failure by silencing of NF-kappaB. J Mol Biol (2007) 1.46
Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome. J Biol Chem (2002) 1.45
A p21/WAF1 mutation favors the appearance of drug resistance to paclitaxel in human noncancerous epithelial mammary cells. Int J Cancer (2006) 1.44
Ferritin in atherosclerosis. Clin Chim Acta (2005) 1.44
MicroRNA-503 targets FGF2 and VEGFA and inhibits tumor angiogenesis and growth. Cancer Lett (2013) 1.44
Decreased density of serotonin 2A receptors in the superior temporal gyrus in schizophrenia--a postmortem study. Prog Neuropsychopharmacol Biol Psychiatry (2009) 1.43
Comparison of fracture resistance between cast posts and fiber posts: a meta-analysis of literature. J Endod (2012) 1.42
MSH2 in contrast to MLH1 and MSH6 is frequently inactivated by exonic and promoter rearrangements in hereditary nonpolyposis colorectal cancer. Cancer Res (2002) 1.41
Filament structure of bacterial tubulin homologue TubZ. Proc Natl Acad Sci U S A (2010) 1.41
Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst (2010) 1.41
A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects. Hum Mutat (2008) 1.41
Analysis of the clinical features of recurrent acute pancreatitis in China. J Gastroenterol (2006) 1.40
Defective ENaC processing and function in tissue kallikrein-deficient mice. J Biol Chem (2007) 1.40
Carnosic acid potentiates the antioxidant and prodifferentiation effects of 1alpha,25-dihydroxyvitamin D3 in leukemia cells but does not promote elevation of basal levels of intracellular calcium. Cancer Res (2003) 1.39
Draft genome sequence of the mulberry tree Morus notabilis. Nat Commun (2013) 1.38
Structural basis for translational inhibition by the tumour suppressor Pdcd4. EMBO J (2009) 1.38
Inactivation of BHD in sporadic renal tumors. Cancer Res (2003) 1.36
Netrin-1 acts as a survival factor for aggressive neuroblastoma. J Exp Med (2009) 1.36
p53 acts as a safeguard of translational control by regulating fibrillarin and rRNA methylation in cancer. Cancer Cell (2013) 1.35
The CD10 enzyme is a key player to identify and regulate human mammary stem cells. Stem Cells (2010) 1.34
Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study. Invest Ophthalmol Vis Sci (2002) 1.33
Platelet CD36 surface expression levels affect functional responses to oxidized LDL and are associated with inheritance of specific genetic polymorphisms. Blood (2011) 1.32
High-temperature poly(phthalazinone ether ketone) thin films for dielectric energy storage. ACS Appl Mater Interfaces (2010) 1.30
A robust hybrid between genetic algorithm and support vector machine for extracting an optimal feature gene subset. Genomics (2005) 1.30
Tamoxifen and risk of contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. J Clin Oncol (2013) 1.29
Use of a generalized additive model to investigate key abiotic factors affecting microcystin cellular quotas in heavy bloom areas of Lake Taihu. PLoS One (2012) 1.28
Clonal expansion of mutated mitochondrial DNA is associated with tumor formation and complex I deficiency in the benign renal oncocytoma. Hum Mol Genet (2007) 1.27
Impaired IFN-α production by plasmacytoid dendritic cells favors regulatory T-cell expansion that may contribute to breast cancer progression. Cancer Res (2012) 1.26
Alterations of anaphase-promoting complex genes in human colon cancer cells. Oncogene (2003) 1.25
Angiotensin II-mediated phenotypic cardiomyocyte remodeling leads to age-dependent cardiac dysfunction and failure. Hypertension (2005) 1.25
In vivo quantification of T1, T2, and apparent diffusion coefficient in the mouse retina at 11.74T. Magn Reson Med (2008) 1.22
Sodium and potassium balance depends on αENaC expression in connecting tubule. J Am Soc Nephrol (2010) 1.21
Mutations in ABCB6 cause dyschromatosis universalis hereditaria. J Invest Dermatol (2013) 1.21
Genome-wide linkage scan identifies a novel genetic locus on chromosome 5p13 for neonatal atrial fibrillation associated with sudden death and variable cardiomyopathy. Circulation (2004) 1.21
Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. Hum Mutat (2004) 1.21