scholarly journals Measurement of 3 beta-hydroxysteroid delta 7-reductase activity in cultured skin fibroblasts utilizing ergosterol as a substrate: a new method for the diagnosis of the Smith-Lemli-Opitz syndrome

1996 ◽  
Vol 37 (11) ◽  
pp. 2433-2438
Author(s):  
M Honda ◽  
G S Tint ◽  
A Honda ◽  
A K Batta ◽  
T S Chen ◽  
...  
Keyword(s):  
Reductase Activity ◽  
Skin Fibroblasts ◽  
New Method ◽  
Cultured Skin ◽  
Opitz Syndrome

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

1995 ◽  
Vol 36 (7) ◽  
pp. 1595-1601
Author(s):  
A Honda ◽  
G S Tint ◽  
G Salen ◽  
A K Batta ◽  
T S Chen ◽  
...  
Keyword(s):  
Skin Fibroblasts ◽  
Cultured Skin ◽  
Opitz Syndrome

Electron Microscopy of Fibroblasts from Myotonic Muscular Dystrophy Patients

1981 ◽  
Vol 39 ◽  
pp. 498-499
Author(s):  
S. E. Miller ◽  
G. B. Hartwig ◽  
R. A. Nielsen ◽  
A. P. Frost ◽  
A. D. Roses
Keyword(s):  
Electron Microscopy ◽  
Muscular Dystrophy ◽  
Genetic Diseases ◽  
Skin Fibroblasts ◽  
Inborn Errors ◽  
Cytoplasmic Inclusions ◽  
Cultured Skin ◽  
Myotonic Muscular Dystrophy ◽  
Glycosaminoglycan Metabolism

Many genetic diseases can be demonstrated in skin cells cultured in vitro from patients with inborn errors of metabolism. Since myotonic muscular dystrophy (MMD) affects many organs other than muscle, it seems likely that this defect also might be expressed in fibroblasts. Detection of an alteration in cultured skin fibroblasts from patients would provide a valuable tool in the study of the disease as it would present a readily accessible and controllable system for examination. Furthermore, fibroblast expression would allow diagnosis of fetal and presumptomatic cases. An unusual staining pattern of MMD cultured skin fibroblasts as seen by light microscopy, namely, an increase in alcianophilia and metachromasia, has been reported; both these techniques suggest an altered glycosaminoglycan metabolism An altered growth pattern has also been described. One reference on cultured skin fibroblasts from a different dystrophy (Duchenne Muscular Dystrophy) reports increased cytoplasmic inclusions seen by electron microscopy. Also, ultrastructural alterations have been reported in muscle and thalamus biopsies from MMD patients, but no electron microscopical data is available on MMD cultured skin fibroblasts.

scholarly journals Glycosaminoglycan synthesis by cultured skin fibroblasts from a patient with Lowe's syndrome.

1981 ◽  
Vol 256 (20) ◽  
pp. 10313-10318
Author(s):  
S. Fukui ◽  
H. Yoshida ◽  
T. Tanaka ◽  
T. Sakano ◽  
T. Usui ◽  
...  
Keyword(s):  
Skin Fibroblasts ◽  
Glycosaminoglycan Synthesis ◽  
Cultured Skin

scholarly journals 7-Dehydrocholesterol down-regulates cholesterol biosynthesis in cultured Smith-Lemli-Opitz syndrome skin fibroblasts

1998 ◽  
Vol 39 (3) ◽  
pp. 647-657 ◽  
Author(s):  
Megumi Honda ◽  
G.S. Tint ◽  
Akira Honda ◽  
Lien B. Nguyen ◽  
Thomas S. Chen ◽  
...  
Keyword(s):  
Cholesterol Biosynthesis ◽  
Skin Fibroblasts ◽  
Opitz Syndrome
Sign in / Sign up

Export Citation Format

Share Document