Published in Hepatology on October 01, 2008
Aspects of liver pathology in adult patients with MDR3/ABCB4 gene mutations. Virchows Arch (2012) 1.63
Structural and functional hepatocyte polarity and liver disease. J Hepatol (2015) 0.84
Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease. J Inherit Metab Dis (2010) 0.84
ABCB4 is frequently epigenetically silenced in human cancers and inhibits tumor growth. Sci Rep (2014) 0.81
Small duct primary sclerosing cholangitis without inflammatory bowel disease is genetically different from large duct disease. Liver Int (2014) 0.81
Two ABCB4 point mutations of strategic NBD-motifs do not prevent protein targeting to the plasma membrane but promote MDR3 dysfunction. Eur J Hum Genet (2013) 0.80
ABCB4 mutations in adult patients with cholestatic liver disease: impact and phenotypic expression. J Gastroenterol (2015) 0.78
Primary Biliary Cirrhosis and Primary Sclerosing Cholangitis: a Review Featuring a Women's Health Perspective. J Clin Transl Hepatol (2014) 0.77
ABCB4 mutations underlie hormonal cholestasis but not pediatric idiopathic gallstones. World J Gastroenterol (2014) 0.76
Biliary phosphatidylcholine and lysophosphatidylcholine profiles in sclerosing cholangitis. World J Gastroenterol (2013) 0.75
Analysis of mutations of MDR3 exons 9 and 23 in infants with parenteral nutrition-associated cholestasis. Exp Ther Med (2015) 0.75
Correlation between mutation of MDR3 gene exon 6 and parenteral nutrition-associated cholestasis of preterm infants. Exp Ther Med (2014) 0.75
Pregnancy and ABCB4 gene mutation: risk of recurrent cholelithiasis. BMJ Case Rep (2015) 0.75
The molecular genetics of intrahepatic cholestasis of pregnancy. Obstet Med (2008) 0.75
Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet (2013) 8.24
TERT promoter mutations in familial and sporadic melanoma. Science (2013) 7.82
Genome-wide association study identifies five susceptibility loci for glioma. Nat Genet (2009) 7.62
Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. Nat Genet (2009) 7.30
Sequence variants at the TERT-CLPTM1L locus associate with many cancer types. Nat Genet (2009) 6.91
A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3. Nat Genet (2008) 6.26
Characterization of extracellular circulating microRNA. Nucleic Acids Res (2011) 6.24
Senescence surveillance of pre-malignant hepatocytes limits liver cancer development. Nature (2011) 6.14
An oncogenomics-based in vivo RNAi screen identifies tumor suppressors in liver cancer. Cell (2008) 5.47
Tobacco-smoking-related differential DNA methylation: 27K discovery and replication. Am J Hum Genet (2011) 5.18
Acute cholecystitis: early versus delayed cholecystectomy, a multicenter randomized trial (ACDC study, NCT00447304). Ann Surg (2013) 5.12
Genomic instability and myelodysplasia with monosomy 7 consequent to EVI1 activation after gene therapy for chronic granulomatous disease. Nat Med (2010) 4.76
Cdkn1a deletion improves stem cell function and lifespan of mice with dysfunctional telomeres without accelerating cancer formation. Nat Genet (2006) 4.43
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nat Genet (2013) 4.35
The novel histologic International Association for the Study of Lung Cancer/American Thoracic Society/European Respiratory Society classification system of lung adenocarcinoma is a stage-independent predictor of survival. J Clin Oncol (2012) 4.30
Generation of rat pancreas in mouse by interspecific blastocyst injection of pluripotent stem cells. Cell (2010) 4.24
New common variants affecting susceptibility to basal cell carcinoma. Nat Genet (2009) 4.15
Genome-wide association studies identify four ER negative-specific breast cancer risk loci. Nat Genet (2013) 3.81
A survey of tools for variant analysis of next-generation genome sequencing data. Brief Bioinform (2013) 3.60
Environmental and heritable causes of cancer among 9.6 million individuals in the Swedish Family-Cancer Database. Int J Cancer (2002) 3.55
A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Nat Genet (1998) 3.33
BRAF mutations in metastatic melanoma: a possible association with clinical outcome. Clin Cancer Res (2003) 3.21
Genome-wide association analysis identifies three new breast cancer susceptibility loci. Nat Genet (2012) 3.20
Primary malignant hepatic epithelioid hemangioendothelioma: a comprehensive review of the literature with emphasis on the surgical therapy. Cancer (2006) 3.16
A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. Nat Genet (1998) 3.09
Early experience alters brain function and structure. Pediatrics (2004) 3.08
A systematic approach to mapping recessive disease genes in individuals from outbred populations. PLoS Genet (2009) 3.06
Recruitment and activation of a lipid kinase by hepatitis C virus NS5A is essential for integrity of the membranous replication compartment. Cell Host Microbe (2011) 3.05
Nomenclature of the finer branches of the biliary tree: canals, ductules, and ductular reactions in human livers. Hepatology (2004) 3.00
Recent advances in 2D and 3D in vitro systems using primary hepatocytes, alternative hepatocyte sources and non-parenchymal liver cells and their use in investigating mechanisms of hepatotoxicity, cell signaling and ADME. Arch Toxicol (2013) 3.00
MicroRNA gene expression profile of hepatitis C virus-associated hepatocellular carcinoma. Hepatology (2008) 3.00
G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth. Nat Genet (2008) 3.00
Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042. J Natl Cancer Inst (2009) 2.88
Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2. Nat Genet (2005) 2.83
The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia. Nat Genet (2006) 2.81
Most pancreatic cancer resections are R1 resections. Ann Surg Oncol (2008) 2.79
Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium. Hum Mol Genet (2011) 2.72
Azathioprine therapy and adverse drug reactions in patients with inflammatory bowel disease: impact of thiopurine S-methyltransferase polymorphism. Pharmacogenetics (2002) 2.68
A reliable lacZ expression reporter cassette for multipurpose, knockout-first alleles. Genesis (2004) 2.65
CD133+ hepatic stellate cells are progenitor cells. Biochem Biophys Res Commun (2006) 2.54
Variation in CDKN2A at 9p21.3 influences childhood acute lymphoblastic leukemia risk. Nat Genet (2010) 2.47
Loss of detoxification in inflammatory bowel disease: dysregulation of pregnane X receptor target genes. Gastroenterology (2004) 2.43
A germline variant in the TP53 polyadenylation signal confers cancer susceptibility. Nat Genet (2011) 2.43
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. Nat Genet (2004) 2.40
Nasobiliary drainage induces long-lasting remission in benign recurrent intrahepatic cholestasis. Hepatology (2006) 2.37
Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver. J Clin Invest (2012) 2.33
Comprehensive analysis of thiopurine S-methyltransferase phenotype-genotype correlation in a large population of German-Caucasians and identification of novel TPMT variants. Pharmacogenetics (2004) 2.32
Targeting the BRAF V600E mutation in multiple myeloma. Cancer Discov (2013) 2.32
Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation. Am J Med Genet A (2006) 2.31
Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency. Pediatr Res (2006) 2.31
Molecular allelokaryotyping of pediatric acute lymphoblastic leukemias by high-resolution single nucleotide polymorphism oligonucleotide genomic microarray. Blood (2007) 2.31
Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers. Am J Hum Genet (2013) 2.24
Familial risk of cancer shortly after diagnosis of the first familial tumor. J Natl Cancer Inst (2005) 2.23
Pharmacologic cholinesterase inhibition improves survival in experimental sepsis. Crit Care Med (2008) 2.18
Familial renal cell carcinoma from the Swedish Family-Cancer Database. Eur Urol (2011) 2.10
Filaggrin loss-of-function mutations predispose to phenotypes involved in the atopic march. J Allergy Clin Immunol (2006) 2.09
Involvement of intact HPV16 E6/E7 gene expression in head and neck cancers with unaltered p53 status and perturbed pRb cell cycle control. Oncogene (2002) 2.09
Polymorphisms within micro-RNA-binding sites and risk of sporadic colorectal cancer. Carcinogenesis (2008) 2.09
Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy. Nat Med (2009) 2.08
Localization and density of immune cells in the invasive margin of human colorectal cancer liver metastases are prognostic for response to chemotherapy. Cancer Res (2011) 2.08
Familial risk of lymphoproliferative tumors in families of patients with chronic lymphocytic leukemia: results from the Swedish Family-Cancer Database. Blood (2004) 2.05
Peginterferon alpha-2b plus adefovir induce strong cccDNA decline and HBsAg reduction in patients with chronic hepatitis B. Hepatology (2006) 2.05
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome. Nat Genet (2004) 2.04
Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease. Am J Hum Genet (2004) 2.03
Mesothelioma is a killer of urban men in Sweden. Int J Cancer (2003) 2.02
Prenatal-onset Niemann-Pick type C disease with nonimmune hydrops fetalis. Pediatr Neonatol (2013) 2.01
Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization. Nat Genet (2010) 2.00
First evidence for an association of a functional variant in the microRNA-510 target site of the serotonin receptor-type 3E gene with diarrhea predominant irritable bowel syndrome. Hum Mol Genet (2008) 1.98
Exonuclease-1 deletion impairs DNA damage signaling and prolongs lifespan of telomere-dysfunctional mice. Cell (2007) 1.96
Development of dominant bile duct stenoses in patients with primary sclerosing cholangitis treated with ursodeoxycholic acid: outcome after endoscopic treatment. J Hepatol (2002) 1.96
Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families. Gastroenterology (2008) 1.95
Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicing. Hepatology (2009) 1.90
Autoimmunity and susceptibility to Hodgkin lymphoma: a population-based case-control study in Scandinavia. J Natl Cancer Inst (2006) 1.90
Loss of the abundant nuclear non-coding RNA MALAT1 is compatible with life and development. RNA Biol (2012) 1.90
TAp63alpha induces apoptosis by activating signaling via death receptors and mitochondria. EMBO J (2005) 1.90
E6 and E7 from beta HPV38 cooperate with ultraviolet light in the development of actinic keratosis-like lesions and squamous cell carcinoma in mice. PLoS Pathog (2011) 1.89
Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk. PLoS Genet (2013) 1.88
Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase. Hum Mol Genet (2005) 1.87
Mutations in the AUH gene cause 3-methylglutaconic aciduria type I. Hum Mutat (2003) 1.86
A Direct in vivo RNAi screen identifies MKK4 as a key regulator of liver regeneration. Cell (2013) 1.86
Consensus for EGFR mutation testing in non-small cell lung cancer: results from a European workshop. J Thorac Oncol (2010) 1.85
Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. Nat Genet (2003) 1.85
SNPs in ultraconserved elements and familial breast cancer risk. Carcinogenesis (2008) 1.84
Expression of hepcidin in hereditary hemochromatosis: evidence for a regulation in response to the serum transferrin saturation and to non-transferrin-bound iron. Blood (2003) 1.84
Safety and efficacy of exercise training in various forms of pulmonary hypertension. Eur Respir J (2012) 1.83
Chromosome 7p11.2 (EGFR) variation influences glioma risk. Hum Mol Genet (2011) 1.83
Expression and function of the bile acid receptor TGR5 in Kupffer cells. Biochem Biophys Res Commun (2008) 1.83
Activating BRAF and N-Ras mutations in sporadic primary melanomas: an inverse association with allelic loss on chromosome 9. Oncogene (2003) 1.82
Extracellular miRNAs: the mystery of their origin and function. Trends Biochem Sci (2012) 1.82
Cyclooxygenase-2 inhibition induces apoptosis signaling via death receptors and mitochondria in hepatocellular carcinoma. Cancer Res (2006) 1.82
TERT promoter mutations in bladder cancer affect patient survival and disease recurrence through modification by a common polymorphism. Proc Natl Acad Sci U S A (2013) 1.82
19p13.1 is a triple-negative-specific breast cancer susceptibility locus. Cancer Res (2012) 1.81
Zinc monotherapy is not as effective as chelating agents in treatment of Wilson disease. Gastroenterology (2010) 1.80
Mammographic screening is dramatically changing age-incidence data for breast cancer. J Clin Oncol (2004) 1.80
Critical role of the disintegrin metalloprotease ADAM17 for intestinal inflammation and regeneration in mice. J Exp Med (2010) 1.80
Expression and localization of hepatobiliary transport proteins in progressive familial intrahepatic cholestasis. Hepatology (2005) 1.79