Photomedicine: Lessons from the Smith-Lemli-Opitz syndrome

Journal of Photochemistry and Photobiology B: Biology

Volumn 62, Issue 3, 2001, Pages 123-127

  Anstey, Alexander ^a  

^a CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

Cholesterol biosynthesis; Inherited photosensitivity; Smith Lemli Opitz syndrome; UVA

Indexed keywords

STEROL;

AUTOSOMAL RECESSIVE DISORDER; BIOCHEMISTRY; BIOLOGY; CHOLESTEROL SYNTHESIS; CLINICAL FEATURE; CLINICAL GENETICS; CLINICAL RESEARCH; DERMATOLOGY; FETUS; HUMAN; LIGHT; METABOLIC DISORDER; NUTRITION; PATHOGENESIS; PHOTOSENSITIVITY; PRIORITY JOURNAL; REVIEW; SMITH LEMLI OPITZ SYNDROME; TERATOLOGY; ULTRAVIOLET A RADIATION;

ANIMALS; HUMANS; PHOTOSENSITIVITY DISORDERS; SMITH-LEMLI-OPITZ SYNDROME; ULTRAVIOLET RAYS;

EID: 0035883953     PISSN: 10111344     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1011-1344(01)00171-3     Document Type: Review

References (37)

1. A newly recognized syndrome of multiple congenital anomalies
2. Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome
3. Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome
4. Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: Report of clinical and biochemical findings in four patients and treatment in one patient
5. Abnormal cholesterol metabolism in Smith-Lemli-Opitz syndrome
6. Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS)
7. Treatment of Smith-Lemli-Opitz syndrome: Results of a multicenter trial
8. Cholesterol and bile acid replacement therapy in children and adults with Smith-Lemli-Opitz (SLO/RSH) syndrome
9. Photosensitivity associated with the Smith-Lemli-Opitz syndrome
10. Smith-Lemli-Opitz syndrome: A variable clinical and biochemical phenotype
11. Molecular cloning and expression of the human delta-7-sterol reductase
12. Mutations in the human sterol delta7-sterol reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome
13. Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol-reductase gene
14. Mutations in the delta 7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome
15. Preputal gland tumor sterols. III. A metabolic pathway from lanosterol to cholesterol
16. 7-Dehydrocholesterol down-regulates cholesterol biosynthesis in cultured Smith-Lemli-Opitz syndrome fibroblasts
17. Identification of 8-dehydrocholesterol (cholesta-5,8-dien-3beta-ol) in patients with the Smith-Lemli-Opitz syndrome
18. Identification of 19-nor-5,7,9(10)cholestatrien-3beta-ol in the Smith-Lemli-Opitz syndrome
19. Characterization of photosensitivity in the Smith-Lemli-Opitz syndrome: A new congenital photosensitivity syndrome
20. Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism
21. Variant RSH/Smith-Lemli-Opitz syndrome with atypical sterol metabolism
22. Increased expression of low-density lipoprotein receptors in a Smith-Lemli-Opitz infant with elevated bilirubin levels
23. Photosensitivity in the Smith-Lemli-Opitz syndrome: The USA experience of a new congenital photosensitivity syndrome
24. High cholesterol diet improves the photosensitivity in Smith-Lemli-Opitz syndrome
25. Reproducing abnormal cholesterol biosynthesis as seen in the Smith-Lemli-Opitz syndrome by inhibiting the conversion of 7-dehydrocholesterol to cholesterol in rats
26. Inhibition of 7-dehydrocholesterol reductase by the teratogen AY9944: A rat model for Smith-Lemli-Opitz syndrome
27. Smith-Lemli-Opitz syndrome produced in rats with AY 9944 treated by intravenous injection of lipoprotein cholesterol
28. Action teratogene chez le rat d'un inhibiteur de la synthese du cholesterol, le AY 9944
29. Pathogenesis of malformations in a rodent model for Smith-Lemli-Opitz syndrome
30. RP 101821, a new potent cholesterol-lowering agent: Inhibition of squalene synthase and 7-dehydrocholesterol reductase
31. Effects of UV-radiation of different spectral composition on content of sterols in rat skin
32. Spectrum of delta7-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome
33. Mutational spectrum of the delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome
34. 2
35. Studies on the chemical composition of human epidermal lipids
36. Photochemical reactions and phototoxicity of sterols: Novel self-perpetuating mechanism for lipid photooxidation
37. Lovastatin enhances photocytoxicity of UVA radiation towards NCTC 2544 human keratinocytes: Prevention by cholesterol supplementation and by a cathepsin inhibitor