A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis.

PubWeight™: 3.33‹?› | Rank: Top 1%

🔗 View Article (PMID 9806540)

Published in Nat Genet on November 01, 1998

Authors

S S Strautnieks1, L N Bull, A S Knisely, S A Kocoshis, N Dahl, H Arnell, E Sokal, K Dahan, S Childs, V Ling, M S Tanner, A F Kagalwalla, A Németh, J Pawlowska, A Baker, G Mieli-Vergani, N B Freimer, R M Gardiner, R J Thompson

Author Affiliations

1: Department of Paediatrics, University College London Medical School, UK.

Articles citing this

(truncated to the top 100)

Xenobiotic, bile acid, and cholesterol transporters: function and regulation. Pharmacol Rev (2010) 2.97

Transcriptional integration of metabolism by the nuclear sterol-activated receptors LXR and FXR. Nat Rev Mol Cell Biol (2012) 2.78

The Tangier disease gene product ABC1 controls the cellular apolipoprotein-mediated lipid removal pathway. J Clin Invest (1999) 2.77

ABCG1 (ABC8), the human homolog of the Drosophila white gene, is a regulator of macrophage cholesterol and phospholipid transport. Proc Natl Acad Sci U S A (2000) 2.77

Overview: ABC transporters and human disease. J Bioenerg Biomembr (2001) 2.60

Hepatoprotection by the farnesoid X receptor agonist GW4064 in rat models of intra- and extrahepatic cholestasis. J Clin Invest (2003) 2.51

Bile acid transporters. J Lipid Res (2009) 2.31

Evolutionary conservation predicts function of variants of the human organic cation transporter, OCT1. Proc Natl Acad Sci U S A (2003) 2.03

Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families. Am J Hum Genet (2014) 1.92

The membrane protein ATPase class I type 8B member 1 signals through protein kinase C zeta to activate the farnesoid X receptor. Hepatology (2008) 1.90

Farnesoid X receptor critically determines the fibrotic response in mice but is expressed to a low extent in human hepatic stellate cells and periductal myofibroblasts. Am J Pathol (2009) 1.87

A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum. Am J Hum Genet (2001) 1.73

ABC-me: a novel mitochondrial transporter induced by GATA-1 during erythroid differentiation. EMBO J (2000) 1.72

Engineered fibroblast growth factor 19 reduces liver injury and resolves sclerosing cholangitis in Mdr2-deficient mice. Hepatology (2015) 1.65

A comprehensive analysis of common genetic variation around six candidate loci for intrahepatic cholestasis of pregnancy. Am J Gastroenterol (2013) 1.65

Targeted inactivation of sister of P-glycoprotein gene (spgp) in mice results in nonprogressive but persistent intrahepatic cholestasis. Proc Natl Acad Sci U S A (2001) 1.63

Differences in presentation and progression between severe FIC1 and BSEP deficiencies. J Hepatol (2010) 1.60

Rab11a and myosin Vb are required for bile canalicular formation in WIF-B9 cells. Proc Natl Acad Sci U S A (2005) 1.53

Deciphering the nuclear bile acid receptor FXR paradigm. Nucl Recept Signal (2010) 1.53

Bile acids: chemistry, physiology, and pathophysiology. World J Gastroenterol (2009) 1.51

Risk factors for idiosyncratic drug-induced liver injury. Gastroenterology (2010) 1.51

Bile acid metabolism and signaling. Compr Physiol (2013) 1.42

Progressive familial intrahepatic cholestasis. Orphanet J Rare Dis (2009) 1.38

A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis. Am J Hum Genet (2002) 1.35

Novel resequencing chip customized to diagnose mutations in patients with inherited syndromes of intrahepatic cholestasis. Gastroenterology (2006) 1.35

The bile salt export pump. Pflugers Arch (2006) 1.34

Mutations in TJP2 cause progressive cholestatic liver disease. Nat Genet (2014) 1.32

FXR signaling in the enterohepatic system. Mol Cell Endocrinol (2012) 1.32

Bile formation and secretion. Compr Physiol (2013) 1.32

ATP8B1 is essential for maintaining normal hearing. Proc Natl Acad Sci U S A (2009) 1.30

Increased susceptibility for intrahepatic cholestasis of pregnancy and contraceptive-induced cholestasis in carriers of the 1331T>C polymorphism in the bile salt export pump. World J Gastroenterol (2008) 1.28

Physiology of bile secretion. World J Gastroenterol (2008) 1.28

Bile acid transporters in health and disease. Xenobiotica (2008) 1.24

FXR regulates liver repair after CCl4-induced toxic injury. Mol Endocrinol (2010) 1.23

Intracellular trafficking of bile salt export pump (ABCB11) in polarized hepatic cells: constitutive cycling between the canalicular membrane and rab11-positive endosomes. Mol Biol Cell (2004) 1.22

Inflammatory pseudo-tumor of the liver: a rare pathological entity. World J Surg Oncol (2011) 1.19

Progressive familial intrahepatic cholestasis. J Clin Exp Hepatol (2013) 1.19

Role of ABC transporters in secretion of cholesterol from liver into bile. Proc Natl Acad Sci U S A (2002) 1.18

Intrahepatic cholestasis of pregnancy levels of sulfated progesterone metabolites inhibit farnesoid X receptor resulting in a cholestatic phenotype. Hepatology (2013) 1.13

NF-kappaB is activated in cholestasis and functions to reduce liver injury. Am J Pathol (2001) 1.12

Regulation of hepatic bile acid transporters Ntcp and Bsep expression. Biochem Pharmacol (2007) 1.10

Mapping of the locus for cholestasis-lymphedema syndrome (Aagenaes syndrome) to a 6.6-cM interval on chromosome 15q. Am J Hum Genet (2000) 1.09

ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy. Gut (2005) 1.08

Intestinal transport and metabolism of bile acids. J Lipid Res (2014) 1.08

FXR and PXR: potential therapeutic targets in cholestasis. J Steroid Biochem Mol Biol (2011) 1.08

Cholangiocyte anion exchange and biliary bicarbonate excretion. World J Gastroenterol (2006) 1.08

Degradation of the bile salt export pump at endoplasmic reticulum in progressive familial intrahepatic cholestasis type II. Hepatology (2008) 1.07

Nuclear receptors as therapeutic targets in cholestatic liver diseases. Br J Pharmacol (2009) 1.07

The role of bile salt export pump mutations in progressive familial intrahepatic cholestasis type II. J Clin Invest (2002) 1.06

Hepatocyte polarity. Compr Physiol (2013) 1.06

Apoptosis and necrosis in the liver. Compr Physiol (2013) 1.05

The role of half-transporters in multidrug resistance. J Bioenerg Biomembr (2001) 1.04

Transport of bile acids in multidrug-resistance-protein 3-overexpressing cells co-transfected with the ileal Na+-dependent bile-acid transporter. Biochem J (2003) 1.04

The hypolipidemic agent guggulsterone regulates the expression of human bile salt export pump: dominance of transactivation over farsenoid X receptor-mediated antagonism. J Pharmacol Exp Ther (2006) 1.02

Endocrine and paracrine role of bile acids. World J Gastroenterol (2008) 1.02

Nuclear factor erythroid 2-related factor 2 is a positive regulator of human bile salt export pump expression. Hepatology (2009) 1.02

Oxysterol 22(R)-hydroxycholesterol induces the expression of the bile salt export pump through nuclear receptor farsenoid X receptor but not liver X receptor. J Pharmacol Exp Ther (2005) 1.01

Key discoveries in bile acid chemistry and biology and their clinical applications: history of the last eight decades. J Lipid Res (2014) 0.99

Genetic evidence of heterogeneity in intrahepatic cholestasis of pregnancy. Gut (2003) 0.98

Etiopathogenesis of primary sclerosing cholangitis. World J Gastroenterol (2008) 0.96

Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis. J Hepatol (2016) 0.96

The bile salt export pump: clinical and experimental aspects of genetic and acquired cholestatic liver disease. Semin Liver Dis (2010) 0.95

X-linked cholestasis in mouse due to mutations of the P4-ATPase ATP11C. Proc Natl Acad Sci U S A (2011) 0.95

CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops. PLoS One (2013) 0.94

Nuclear Receptors as Therapeutic Targets in Liver Disease: Are We There Yet? Annu Rev Pharmacol Toxicol (2016) 0.93

Polymorphic variants in the human bile salt export pump (BSEP; ABCB11): functional characterization and interindividual variability. Pharmacogenet Genomics (2010) 0.93

Localization of a recessive gene for North American Indian childhood cirrhosis to chromosome region 16q22-and identification of a shared haplotype. Am J Hum Genet (2000) 0.91

A frequent variant in the human bile salt export pump gene ABCB11 is associated with hepatitis C virus infection, but not liver stiffness in a German population. BMC Gastroenterol (2012) 0.90

Genetic determinants of serum lipid levels in Chinese subjects: a population-based study in Shanghai, China. Eur J Epidemiol (2009) 0.90

ATP-binding cassette transporters in human heart failure. Naunyn Schmiedebergs Arch Pharmacol (2008) 0.90

Diagnosis of ABCB11 gene mutations in children with intrahepatic cholestasis using high resolution melting analysis and direct sequencing. Mol Med Rep (2014) 0.89

Three ATP-binding cassette transporter genes, Abca14, Abca15, and Abca16, form a cluster on mouse Chromosome 7F3. Mamm Genome (2004) 0.89

Genetics of familial intrahepatic cholestasis syndromes. J Med Genet (2005) 0.89

Molecular mechanisms of cholestasis. Wien Med Wochenschr (2006) 0.88

Clinical application of transcriptional activators of bile salt transporters. Mol Aspects Med (2013) 0.87

Evaluation of the endothelin receptor antagonists ambrisentan, bosentan, macitentan, and sitaxsentan as hepatobiliary transporter inhibitors and substrates in sandwich-cultured human hepatocytes. PLoS One (2014) 0.87

Ageing Fxr deficient mice develop increased energy expenditure, improved glucose control and liver damage resembling NASH. PLoS One (2013) 0.86

Transgenic overexpression of Abcb11 enhances biliary bile salt outputs, but does not affect cholesterol cholelithogenesis in mice. Eur J Clin Invest (2010) 0.86

Fibrates and cholestasis. Hepatology (2015) 0.86

Regulation of ABC transporter function via phosphorylation by protein kinases. Curr Pharm Biotechnol (2011) 0.86

Analysis of gene mutations in children with cholestasis of undefined etiology. J Pediatr Gastroenterol Nutr (2010) 0.85

Biosynthesis and trafficking of the bile salt export pump, BSEP: therapeutic implications of BSEP mutations. Mol Aspects Med (2013) 0.85

Cloning, characterization and tissue distribution of the rat ATP-binding cassette (ABC) transporter ABC2/ABCA2. Biochem J (2000) 0.85

Human cardiovascular disease IBC chip-wide association with weight loss and weight regain in the look AHEAD trial. Hum Hered (2013) 0.84

Structural and functional hepatocyte polarity and liver disease. J Hepatol (2015) 0.84

Cloning and expression of SLC10A4, a putative organic anion transport protein. World J Gastroenterol (2006) 0.84

Mechanistic insights into isoform-dependent and species-specific regulation of bile salt export pump by farnesoid X receptor. J Lipid Res (2013) 0.84

A perspective on efflux transport proteins in the liver. Clin Pharmacol Ther (2012) 0.84

Morphologic findings in progressive familial intrahepatic cholestasis 2 (PFIC2): correlation with genetic and immunohistochemical studies. Am J Surg Pathol (2011) 0.84

The bile salt export pump: molecular properties, function and regulation. Pflugers Arch (2004) 0.83

Re-sequencing data for refining candidate genes and polymorphisms in QTL regions affecting adiposity in chicken. PLoS One (2014) 0.82

The molecular pathogenesis of cholestasis in sepsis. Front Biosci (Elite Ed) (2013) 0.82

Discovery of regulatory elements in human ATP-binding cassette transporters through expression quantitative trait mapping. Pharmacogenomics J (2011) 0.82

Cholestasis. Gut (2003) 0.82

Hepatocellular transport proteins and their role in liver disease. World J Gastroenterol (2001) 0.82

Cystic fibrosis related liver disease--another black box in hepatology. Int J Mol Sci (2014) 0.81

Hepatic overexpression of abcb11 promotes hypercholesterolemia and obesity in mice. Gastroenterology (2011) 0.81

Expression of liver plasma membrane transporters in gallstone-susceptible and gallstone-resistant mice. Biochem J (2002) 0.81

Hereditary pancreatic and hepatobiliary cancers. Int J Surg Oncol (2011) 0.81

The association between bile salt export pump single-nucleotide polymorphisms and primary biliary cirrhosis susceptibility and ursodeoxycholic acid response. Dis Markers (2014) 0.81

Articles by these authors

Engagement of the PD-1 immunoinhibitory receptor by a novel B7 family member leads to negative regulation of lymphocyte activation. J Exp Med (2000) 19.81

Mortality and morbidity in patients receiving encainide, flecainide, or placebo. The Cardiac Arrhythmia Suppression Trial. N Engl J Med (1991) 13.91

Mutational processes of simple-sequence repeat loci in human populations. Proc Natl Acad Sci U S A (1994) 11.84

Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis. Nat Genet (1994) 10.35

Allele frequencies at microsatellite loci: the stepwise mutation model revisited. Genetics (1993) 8.60

Survey of unlicensed and off label drug use in paediatric wards in European countries. European Network for Drug Investigation in Children. BMJ (2000) 8.10

NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Nat Genet (2000) 7.98

A surface glycoprotein modulating drug permeability in Chinese hamster ovary cell mutants. Biochim Biophys Acta (1976) 7.41

The biochemistry of P-glycoprotein-mediated multidrug resistance. Annu Rev Biochem (1989) 7.13

The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. Nat Genet (1999) 6.23

Inhibition of plasminogen activators or matrix metalloproteinases prevents cardiac rupture but impairs therapeutic angiogenesis and causes cardiac failure. Nat Med (1999) 4.85

Landscape ecology of algal symbionts creates variation in episodes of coral bleaching. Nature (1997) 4.53

Fractionation and sequences of the large pyrimidine oligonucleotides from bacteriophage fd DNA. J Mol Biol (1972) 4.42

Sequence and expression of human estrogen receptor complementary DNA. Science (1986) 4.36

Duplications of mitochondrial DNA in mitochondrial myopathy. Lancet (1989) 4.35

Generation of rat pancreas in mouse by interspecific blastocyst injection of pluripotent stem cells. Cell (2010) 4.24

Detection of P-glycoprotein in multidrug-resistant cell lines by monoclonal antibodies. Nature (1985) 3.97

Cell surface P-glycoprotein associated with multidrug resistance in mammalian cell lines. Science (1983) 3.88

Homology between P-glycoprotein and a bacterial haemolysin transport protein suggests a model for multidrug resistance. Nature (1987) 3.79

Pyrimidine sequences from the DNA of bacteriophages fd, fl, and phi X174. Proc Natl Acad Sci U S A (1972) 3.73

A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nat Genet (1996) 3.67

The treatment of soft-tissue sarcomas of the extremities: prospective randomized evaluations of (1) limb-sparing surgery plus radiation therapy compared with amputation and (2) the role of adjuvant chemotherapy. Ann Surg (1982) 3.65

ICOS is critical for CD40-mediated antibody class switching. Nature (2001) 3.63

Amplification of P-glycoprotein genes in multidrug-resistant mammalian cell lines. Nature (1985) 3.59

Reduced permeability in CHO cells as a mechanism of resistance to colchicine. J Cell Physiol (1974) 3.36

Gridlock signalling pathway fashions the first embryonic artery. Nature (2001) 3.30

Absolute pitch: an approach for identification of genetic and nongenetic components. Am J Hum Genet (1998) 3.29

Linkage-disequilibrium mapping of disease genes by reconstruction of ancestral haplotypes in founder populations. Am J Hum Genet (1999) 3.16

A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. Nat Genet (1998) 3.09

Nomenclature of the finer branches of the biliary tree: canals, ductules, and ductular reactions in human livers. Hepatology (2004) 3.00

The lyase activity of the DNA repair protein beta-polymerase protects from DNA-damage-induced cytotoxicity. Nature (2000) 2.88

Mechanism of multidrug resistance. Biochim Biophys Acta (1988) 2.83

Microsatellite allele frequencies in humans and chimpanzees, with implications for constraints on allele size. Mol Biol Evol (1995) 2.82

Treatment of immune globulin-resistant Kawasaki disease with pulsed doses of corticosteroids. J Pediatr (1996) 2.77

Grieving abortion loss. AWHONN Lifelines (2002) 2.66

Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis. Gastroenterology (1999) 2.61

Overexpression and amplification of five genes in a multidrug-resistant Chinese hamster ovary cell line. Mol Cell Biol (1986) 2.59

PGP 9.5--a new marker for vertebrate neurons and neuroendocrine cells. Brain Res (1983) 2.41

Antibodies to the surface of halothane-altered rabbit hepatocytes in patients with severe halothane-associated hepatitis. N Engl J Med (1980) 2.41

Phenomics: the systematic study of phenotypes on a genome-wide scale. Neuroscience (2009) 2.38

Nasobiliary drainage induces long-lasting remission in benign recurrent intrahepatic cholestasis. Hepatology (2006) 2.37

Chemotherapy with focal therapy can cure intraocular retinoblastoma without radiotherapy. Arch Ophthalmol (1996) 2.35

P-glycoprotein: multidrug-resistance and a superfamily of membrane-associated transport proteins. FASEB J (1989) 2.35

Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver. J Clin Invest (2012) 2.33

Moderate frequency of BRCA1 and BRCA2 germ-line mutations in Scandinavian familial breast cancer. Am J Hum Genet (1997) 2.33

P-glycoprotein expression as a predictor of the outcome of therapy for neuroblastoma. N Engl J Med (1991) 2.32

A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction. J Pediatr (1979) 2.32

The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease. Am J Hum Genet (1999) 2.20

Immunohistochemical detection of P-glycoprotein: prognostic correlation in soft tissue sarcoma of childhood. J Clin Oncol (1990) 2.20

A 42K outer-membrane protein is a component of the yeast mitochondrial protein import site. Nature (1989) 2.18

Mouse inducible costimulatory molecule (ICOS) expression is enhanced by CD28 costimulation and regulates differentiation of CD4+ T cells. J Immunol (2000) 2.16

Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children. J Pediatr (1994) 2.16

Gamma globulin re-treatment in Kawasaki disease. J Pediatr (1993) 2.13

Detection of P-glycoprotein in ovarian cancer: a molecular marker associated with multidrug resistance. J Clin Oncol (1985) 2.12

The spectrum of pediatric eosinophilic esophagitis beyond infancy: a clinical series of 30 children. Am J Gastroenterol (2000) 2.10

Outbreak of low pathogenicity H7N3 avian influenza in UK, including associated case of human conjunctivitis. Euro Surveill (2006) 2.08

Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression. Blood (1999) 2.07

Screening a large reference sample to identify very low frequency sequence variants: comparisons between two genes. Nat Genet (2001) 2.07

Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome. Nat Genet (2004) 2.04

DNA-mediated transfer of multiple drug resistance and plasma membrane glycoprotein expression. Mol Cell Biol (1982) 2.03

Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q. Hum Mol Genet (1997) 2.02

Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes. Ann Neurol (1999) 2.02

Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization. Nat Genet (2010) 2.00

A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1). Genomics (1991) 1.99

A trial of two cognitive-behavioural methods of treating drug-resistant residual psychotic symptoms in schizophrenic patients: I. Outcome. Br J Psychiatry (1993) 1.98

Purification of P-glycoprotein from plasma membrane vesicles of Chinese hamster ovary cell mutants with reduced colchicine permeability. J Biol Chem (1979) 1.98

Cognitive functioning and brain magnetic resonance imaging in children with sickle Cell disease. Neuropsychology Committee of the Cooperative Study of Sickle Cell Disease. Pediatrics (1996) 1.98

PGP 9.5, a new marker for human neuroendocrine tumours. Histopathology (1985) 1.97

Autoimmune hepatitis in childhood: a 20-year experience. Hepatology (1997) 1.97

Association between HLA and extrahepatic biliary atresia. J Pediatr Gastroenterol Nutr (1993) 1.96

Pleiotropic phenotype of colchicine-resistant CHO cells: cross-resistance and collateral sensitivity. J Cell Physiol (1976) 1.96

Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families. Gastroenterology (2008) 1.95

Genetic and biochemical characterization of multidrug resistance. Pharmacol Ther (1985) 1.92

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

Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain. Nat Genet (1997) 1.88

Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome. Nat Genet (1999) 1.88

Phagocytosis of apoptotic neutrophils does not induce macrophage release of thromboxane B2. J Leukoc Biol (1992) 1.85

Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. Nat Genet (2003) 1.85

A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases. Am J Hum Genet (1994) 1.84

Influence of acidosis, hypoxemia, and hypotension on neurodevelopmental outcome in very low birth weight infants. Pediatrics (1995) 1.84

Variation in chromatin structure in two cell types from the same tissue: a short DNA repeat length in cerebral cortex neurons. Cell (1977) 1.83

Ig Sgamma3 DNA-specifc double strand breaks are induced in mitogen-activated B cells and are implicated in switch recombination. J Immunol (1997) 1.83

Detection of P-glycoprotein isoforms by gene-specific monoclonal antibodies. Proc Natl Acad Sci U S A (1990) 1.81

Isolation of PGP 9.5, a new human neurone-specific protein detected by high-resolution two-dimensional electrophoresis. J Neurochem (1983) 1.80

Ducky mouse phenotype of epilepsy and ataxia is associated with mutations in the Cacna2d2 gene and decreased calcium channel current in cerebellar Purkinje cells. J Neurosci (2001) 1.77

Fetal ascites: an unusual presentation of Niemann-Pick disease type C. Arch Dis Child (1989) 1.77

The distribution of linkage disequilibrium over anonymous genome regions. Hum Mol Genet (1995) 1.76

Multidrug resistance. Cancer Surv (1986) 1.75

Biliary atresia: the King's College Hospital experience (1974-1995) J Pediatr Surg (1997) 1.75

Spectrum of mutations in the Batten disease gene, CLN3. Am J Hum Genet (1997) 1.73

Effects of interventions aimed at changing the length of primary care physicians' consultation. Cochrane Database Syst Rev (2006) 1.73

Multidrug-resistance phenotype in Chinese hamster ovary cells. Cancer Treat Rep (1983) 1.72

Atp8b1 deficiency in mice reduces resistance of the canalicular membrane to hydrophobic bile salts and impairs bile salt transport. Hepatology (2006) 1.71

The General Medical Health Rating: a bedside global rating of medical comorbidity in patients with dementia. J Am Geriatr Soc (1999) 1.71

The mdr1 gene, responsible for multidrug-resistance, codes for P-glycoprotein. Biochem Biophys Res Commun (1986) 1.71

Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor. J Clin Endocrinol Metab (2000) 1.71

Positively cooperative sites for drug transport by P-glycoprotein with distinct drug specificities. Eur J Biochem (1997) 1.69

Contribution of variant alleles of ABCB11 to susceptibility to intrahepatic cholestasis of pregnancy. Gut (2008) 1.68

Sickle cell disease in children and adolescents: the relation of child and parent pain coping strategies to adjustment. J Pediatr Psychol (1991) 1.67