Published in Hepatology on February 08, 2012
Hunting human disease genes: lessons from the past, challenges for the future. Hum Genet (2013) 0.90
Runs of homozygosity in European populations. Am J Hum Genet (2008) 5.34
Quantification of homozygosity in consanguineous individuals with autosomal recessive disease. Am J Hum Genet (2006) 3.52
The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. Nat Genet (2006) 3.17
The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood. Gastroenterology (2001) 1.99
Fifty years of advances in bile acid synthesis and metabolism. J Lipid Res (2008) 1.74
3β-hydroxy-Δ⁵-C₂₇-steroid dehydrogenase/isomerase deficiency in a patient who underwent oral bile acid therapy for 10 years and delivered two healthy infants. Pediatr Int (2010) 1.41
Familial giant cell hepatitis associated with synthesis of 3 beta, 7 alpha-dihydroxy-and 3 beta,7 alpha, 12 alpha-trihydroxy-5-cholenoic acids. J Clin Invest (1987) 1.32
Defects in bile acid biosynthesis--diagnosis and treatment. J Pediatr Gastroenterol Nutr (2006) 1.16
The bile acid synthetic gene 3beta-hydroxy-Delta(5)-C(27)-steroid oxidoreductase is mutated in progressive intrahepatic cholestasis. J Clin Invest (2000) 1.13
Variable clinical spectrum of the most common inborn error of bile acid metabolism--3beta-hydroxy-Delta 5-C27-steroid dehydrogenase deficiency. J Pediatr Gastroenterol Nutr (2010) 1.12
Oral cholic acid for hereditary defects of primary bile acid synthesis: a safe and effective long-term therapy. Gastroenterology (2009) 1.11
EX-HOM (EXome HOMozygosity): a proof of principle. Hum Hered (2011) 1.06
Analysis of HSD3B7 knockout mice reveals that a 3alpha-hydroxyl stereochemistry is required for bile acid function. Proc Natl Acad Sci U S A (2007) 0.97
Bile acids and bile alcohols in a child with hepatic 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase deficiency: effects of chenodeoxycholic acid treatment. J Lipid Res (1991) 0.94
Molecular genetic and bile acid profiles in two Japanese patients with 3beta-hydroxy-DELTA5-C27-steroid dehydrogenase/isomerase deficiency. Pediatr Res (2010) 0.94
Inborn errors of bile acid metabolism. Semin Liver Dis (2007) 0.93
Molecular genetics of 3beta-hydroxy-Delta5-C27-steroid oxidoreductase deficiency in 16 patients with loss of bile acid synthesis and liver disease. J Clin Endocrinol Metab (2003) 0.88
3 beta-hydroxy-delta 5-C27-steroid dehydrogenase deficiency; effect of chenodeoxycholic acid therapy on liver histology. J Inherit Metab Dis (1992) 0.87
Differential interaction of bile acids from patients with inborn errors of bile acid synthesis with hepatocellular bile acid transporters. Eur J Biochem (1997) 0.87
An inborn error of bile acid synthesis (3beta-hydroxy-delta5-C27-steroid dehydrogenase deficiency) presenting as malabsorption leading to rickets. Arch Dis Child (1999) 0.81
Cholestatic liver disease in adults may be due to an inherited defect in bile acid biosynthesis. J Intern Med (2007) 0.78
An infant with 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase/isomerase deficiency presenting with typical neonatal hepatitis syndrome: the first Japanese case. Acta Paediatr Jpn (1998) 0.78
Titration of bile acid supplements in 3beta-hydroxy-Delta 5-C27-steroid dehydrogenase/isomerase deficiency. J Pediatr Gastroenterol Nutr (2010) 0.77
3beta-hydroxy-delta5-C27-steroid dehydrogenase/isomerase deficiency in a 23-year-old woman. Pediatr Int (2000) 0.77
Sequence variations in PCSK9, low LDL, and protection against coronary heart disease. N Engl J Med (2006) 23.83
Multiple rare alleles contribute to low plasma levels of HDL cholesterol. Science (2004) 21.65
A common allele on chromosome 9 associated with coronary heart disease. Science (2007) 20.37
Prevalence of hepatic steatosis in an urban population in the United States: impact of ethnicity. Hepatology (2004) 18.86
Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL. Nat Genet (2007) 13.78
Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9. Nat Genet (2005) 12.12
Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease. Nat Genet (2008) 10.87
The Dallas Heart Study: a population-based probability sample for the multidisciplinary study of ethnic differences in cardiovascular health. Am J Cardiol (2004) 9.43
Magnetic resonance spectroscopy to measure hepatic triglyceride content: prevalence of hepatic steatosis in the general population. Am J Physiol Endocrinol Metab (2004) 8.36
Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels. Proc Natl Acad Sci U S A (2006) 8.20
Human fatty liver disease: old questions and new insights. Science (2011) 8.03
A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol. Am J Hum Genet (2006) 7.89
Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia. N Engl J Med (2010) 6.84
GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. Nature (2003) 6.40
Adult-onset pulmonary fibrosis caused by mutations in telomerase. Proc Natl Acad Sci U S A (2007) 5.95
Telomere shortening in familial and sporadic pulmonary fibrosis. Am J Respir Crit Care Med (2008) 5.82
Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans. J Clin Invest (2008) 5.05
Monogenic hypercholesterolemia: new insights in pathogenesis and treatment. J Clin Invest (2003) 4.42
Pnpla3I148M knockin mice accumulate PNPLA3 on lipid droplets and develop hepatic steatosis. Hepatology (2014) 4.01
PCSK9: a convertase that coordinates LDL catabolism. J Lipid Res (2008) 3.92
Overexpression of ABCG5 and ABCG8 promotes biliary cholesterol secretion and reduces fractional absorption of dietary cholesterol. J Clin Invest (2002) 3.85
Targeted deletion of the 9p21 non-coding coronary artery disease risk interval in mice. Nature (2010) 3.77
Molecular biology of PCSK9: its role in LDL metabolism. Trends Biochem Sci (2007) 3.59
Binding of proprotein convertase subtilisin/kexin type 9 to epidermal growth factor-like repeat A of low density lipoprotein receptor decreases receptor recycling and increases degradation. J Biol Chem (2007) 3.45
A sequence variation (I148M) in PNPLA3 associated with nonalcoholic fatty liver disease disrupts triglyceride hydrolysis. J Biol Chem (2009) 3.41
Molecular characterization of loss-of-function mutations in PCSK9 and identification of a compound heterozygote. Am J Hum Genet (2006) 3.38
Disruption of Abcg5 and Abcg8 in mice reveals their crucial role in biliary cholesterol secretion. Proc Natl Acad Sci U S A (2002) 3.09
Transmembrane 6 superfamily member 2 gene variant disentangles nonalcoholic steatohepatitis from cardiovascular disease. Hepatology (2015) 2.81
Two independent apolipoprotein A5 haplotypes influence human plasma triglyceride levels. Hum Mol Genet (2002) 2.71
Atypical angiopoietin-like protein that regulates ANGPTL3. Proc Natl Acad Sci U S A (2012) 2.62
Genetic defects in surfactant protein A2 are associated with pulmonary fibrosis and lung cancer. Am J Hum Genet (2008) 2.53
ABCG5 and ABCG8 are obligate heterodimers for protein trafficking and biliary cholesterol excretion. J Biol Chem (2003) 2.48
A feed-forward loop amplifies nutritional regulation of PNPLA3. Proc Natl Acad Sci U S A (2010) 2.34
Common single-nucleotide polymorphisms act in concert to affect plasma levels of high-density lipoprotein cholesterol. Am J Hum Genet (2007) 2.28
Telomere lengths, pulmonary fibrosis and telomerase (TERT) mutations. PLoS One (2010) 2.19
Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia. Hum Mol Genet (2010) 2.19
African Americans and Caucasians have a similar prevalence of coronary calcium in the Dallas Heart Study. J Am Coll Cardiol (2004) 2.16
Dissociation between APOC3 variants, hepatic triglyceride content and insulin resistance. Hepatology (2010) 2.09
Genome-wide linkage and association analyses to identify genes influencing adiponectin levels: the GEMS Study. Obesity (Silver Spring) (2009) 2.07
PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome. Am J Hum Genet (2010) 2.05
Coexpression of ATP-binding cassette proteins ABCG5 and ABCG8 permits their transport to the apical surface. J Clin Invest (2002) 2.02
Mice lacking ANGPTL8 (Betatrophin) manifest disrupted triglyceride metabolism without impaired glucose homeostasis. Proc Natl Acad Sci U S A (2013) 1.96
WholePathwayScope: a comprehensive pathway-based analysis tool for high-throughput data. BMC Bioinformatics (2006) 1.95
Genetic and metabolic determinants of plasma PCSK9 levels. J Clin Endocrinol Metab (2009) 1.95
No association between plasma levels of plant sterols and atherosclerosis in mice and men. Arterioscler Thromb Vasc Biol (2004) 1.93
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
ARH is a modular adaptor protein that interacts with the LDL receptor, clathrin, and AP-2. J Biol Chem (2002) 1.89
Structural requirements for PCSK9-mediated degradation of the low-density lipoprotein receptor. Proc Natl Acad Sci U S A (2008) 1.86
Admixture mapping of 15,280 African Americans identifies obesity susceptibility loci on chromosomes 5 and X. PLoS Genet (2009) 1.81
Phytosterols promote liver injury and Kupffer cell activation in parenteral nutrition-associated liver disease. Sci Transl Med (2013) 1.77
Sterol intermediates from cholesterol biosynthetic pathway as liver X receptor ligands. J Biol Chem (2006) 1.72
Rac guanosine triphosphatases represent integrating molecular therapeutic targets for BCR-ABL-induced myeloproliferative disease. Cancer Cell (2007) 1.72
Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH: a clinical and molecular genetic analysis. Lancet (2002) 1.69
Stimulation of cholesterol excretion by the liver X receptor agonist requires ATP-binding cassette transporters G5 and G8. J Biol Chem (2003) 1.67
Genetic variation in ANGPTL4 provides insights into protein processing and function. J Biol Chem (2009) 1.64
Lack of MEF2A mutations in coronary artery disease. J Clin Invest (2005) 1.62
Expression of ABCG5 and ABCG8 is required for regulation of biliary cholesterol secretion. J Biol Chem (2004) 1.57
Tauroursodeoxycholic acid (TUDCA) in the prevention of total parenteral nutrition-associated liver disease. J Pediatr (2002) 1.56
Normal sorting but defective endocytosis of the low density lipoprotein receptor in mice with autosomal recessive hypercholesterolemia. J Biol Chem (2003) 1.56
Intestinal adaptation after ileal interposition surgery increases bile acid recycling and protects against obesity-related comorbidities. Am J Physiol Gastrointest Liver Physiol (2010) 1.54
Expression and characterization of a PNPLA3 protein isoform (I148M) associated with nonalcoholic fatty liver disease. J Biol Chem (2011) 1.53
Chronic overexpression of PNPLA3I148M in mouse liver causes hepatic steatosis. J Clin Invest (2012) 1.45
Dual roles for cholesterol in mammalian cells. Proc Natl Acad Sci U S A (2005) 1.43
Selecting the appropriate rodent diet for endocrine disruptor research and testing studies. ILAR J (2004) 1.39