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Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT

Nature genetics, 2003-05, Vol.34 (1), p.91-96

2003

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Bile acid hydrophobicity is correlated with induction of apoptosis and/or growth arrest in HCT116 cells

Biochemical journal, 2001-06, Vol.356 (Pt 2), p.481-486

2001

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Defective Cholesterol Biosynthesis Associated with the Smith-Lemli-Opitz Syndrome

The New England journal of medicine, 1994-01, Vol.330 (2), p.107-113

1994

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Fecal Bile Acid Concentrations in a Subpopulation of the Wheat Bran Fiber Colon Polyp Trial

Cancer epidemiology, biomarkers & prevention, 2003-03, Vol.12 (3), p.197-200

2003

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Differences in hepatic levels of intermediates in bile acid biosynthesis between Cyp27(-/-) mice and CTX

Journal of lipid research, 2001-02, Vol.42 (2), p.291-300

2001

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Ursodeoxycholic acid for the treatment of primary sclerosing cholangitis: A 30‐month pilot study

Hepatology (Baltimore, Md.), 1991-11, Vol.14 (5), p.838-847

1991

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Results of a Phase I Multiple-Dose Clinical Study of Ursodeoxycholic Acid

Cancer epidemiology, biomarkers & prevention, 2004-05, Vol.13 (5), p.861-867

2004

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Markedly increased tissue concentrations of 7-dehydrocholesterol combined with low levels of cholesterol are characteristic of the Smith-Lemli-Opitz syndrome

Journal of lipid research, 1995-01, Vol.36 (1), p.89-95

1995

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Abnormal hepatic sinusoidal bile acid transport in an Amish Kindred is not linked to FIC1 and is improved by ursodiol

Gastroenterology (New York, N.Y. 1943), 2000-07, Vol.119 (1), p.188-195

2000

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Cholesterol and oxygenated cholesterol concentrations are markedly elevated in peripheral tissue but not in brain from mice with the Niemann–Pick type C phenotype

Journal of inherited metabolic disease, 1998-12, Vol.21 (8), p.853-863

1998

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Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome

Journal of lipid research, 1996-06, Vol.37 (6), p.1169-1180

1996

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Identification of 8-dehydrocholesterol (cholesta-5,8-dien-3 beta-ol) in patients with Smith-Lemli-Opitz syndrome

Journal of lipid research, 1995-04, Vol.36 (4), p.705-713

1995

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Hyperabsorption and retention of campestanol in a sitosterolemic homozygote: comparison with her mother and three control subjects

Journal of lipid research, 2000-11, Vol.41 (11), p.1883-1889

2000

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Enrichment of the more hydrophilic bile acid ursodeoxycholic acid in the fecal water-soluble fraction after feeding to rats with colon polyps

Cancer research (Chicago, Ill.), 1998-04, Vol.58 (8), p.1684-1687

1998

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Defective conversion of 7-dehydrocholesterol to cholesterol in cultured skin fibroblasts from Smith-Lemli-Opitz syndrome homozygotes

Journal of lipid research, 1995-07, Vol.36 (7), p.1595-1601

1995

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Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome

The Journal of pediatrics, 1995-07, Vol.127 (1), p.82-87

1995

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Hepatic cholesterol and bile acid synthesis, low-density lipoprotein receptor function, and plasma and fecal sterol levels in mice: Effects of apolipoprotein E deficiency and probucol or phytosterol treatment

Metabolism, clinical and experimental, 2001-06, Vol.50 (6), p.708-714

2001

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Relationship between biliary and serum bile acids and response to ursodeoxycholic acid in patients with primary biliary cirrhosis

The American journal of gastroenterology, 1998-09, Vol.93 (9), p.1498-1504

1998

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Side chain conjugation prevents bacterial 7-dehydroxylation of bile acids

The Journal of biological chemistry, 1990-07, Vol.265 (19), p.10925-10928

1990

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Differing effects of cholesterol and taurocholate on steady state hepatic HMG-CoA reductase and cholesterol 7 alpha-hydroxylase activities and mRNA levels in the rat

Journal of lipid research, 1992-08, Vol.33 (8), p.1193-1200

1992

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Increased sitosterol absorption, decreased removal, and expanded body pools compensate for reduced cholesterol synthesis in sitosterolemia with xanthomatosis

Journal of lipid research, 1989-09, Vol.30 (9), p.1319-1330

1989

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Identification of 19-nor-5,7,9(10)-cholestatrien-3 beta-ol in patients with Smith-Lemli-Opitz syndrome

Journal of lipid research, 1995-11, Vol.36 (11), p.2413-2418

1995

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Plant stanol fatty acid esters inhibit cholesterol absorption and hepatic hydroxymethyl glutaryl coenzyme a reductase activity to reduce plasma levels in rabbits

Metabolism, clinical and experimental, 2001-09, Vol.50 (9), p.1106-1112

2001

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Highly simplified method for gas-liquid chromatographic quantitation of bile acids and sterols in human stool

Journal of lipid research, 1999-06, Vol.40 (6), p.1148-1154

1999

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Regulation of cholesterol biosynthetic pathway in patients with the Smith–Lemli–Opitz syndrome

Journal of inherited metabolic disease, 2000-07, Vol.23 (5), p.464-474

2000

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Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT

Bile acid hydrophobicity is correlated with induction of apoptosis and/or growth arrest in HCT116 cells

Defective Cholesterol Biosynthesis Associated with the Smith-Lemli-Opitz Syndrome

Fecal Bile Acid Concentrations in a Subpopulation of the Wheat Bran Fiber Colon Polyp Trial

Differences in hepatic levels of intermediates in bile acid biosynthesis between Cyp27(-/-) mice and CTX

Ursodeoxycholic acid for the treatment of primary sclerosing cholangitis: A 30‐month pilot study

Results of a Phase I Multiple-Dose Clinical Study of Ursodeoxycholic Acid

Markedly increased tissue concentrations of 7-dehydrocholesterol combined with low levels of cholesterol are characteristic of the Smith-Lemli-Opitz syndrome

Abnormal hepatic sinusoidal bile acid transport in an Amish Kindred is not linked to FIC1 and is improved by ursodiol

Cholesterol and oxygenated cholesterol concentrations are markedly elevated in peripheral tissue but not in brain from mice with the Niemann–Pick type C phenotype

Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome

Identification of 8-dehydrocholesterol (cholesta-5,8-dien-3 beta-ol) in patients with Smith-Lemli-Opitz syndrome

Hyperabsorption and retention of campestanol in a sitosterolemic homozygote: comparison with her mother and three control subjects

Enrichment of the more hydrophilic bile acid ursodeoxycholic acid in the fecal water-soluble fraction after feeding to rats with colon polyps

Defective conversion of 7-dehydrocholesterol to cholesterol in cultured skin fibroblasts from Smith-Lemli-Opitz syndrome homozygotes

Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome

Hepatic cholesterol and bile acid synthesis, low-density lipoprotein receptor function, and plasma and fecal sterol levels in mice: Effects of apolipoprotein E deficiency and probucol or phytosterol treatment

Relationship between biliary and serum bile acids and response to ursodeoxycholic acid in patients with primary biliary cirrhosis

Side chain conjugation prevents bacterial 7-dehydroxylation of bile acids

Differing effects of cholesterol and taurocholate on steady state hepatic HMG-CoA reductase and cholesterol 7 alpha-hydroxylase activities and mRNA levels in the rat

Increased sitosterol absorption, decreased removal, and expanded body pools compensate for reduced cholesterol synthesis in sitosterolemia with xanthomatosis

Identification of 19-nor-5,7,9(10)-cholestatrien-3 beta-ol in patients with Smith-Lemli-Opitz syndrome

Plant stanol fatty acid esters inhibit cholesterol absorption and hepatic hydroxymethyl glutaryl coenzyme a reductase activity to reduce plasma levels in rabbits

Highly simplified method for gas-liquid chromatographic quantitation of bile acids and sterols in human stool

Regulation of cholesterol biosynthetic pathway in patients with the Smith–Lemli–Opitz syndrome

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