Results 41 to 50 of about 2,108 (140)

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

Journal of Lipid Research, 1998
The Smith-Lemli-Opitz syndrome (SLOS) is a common birth defect–mental retardation syndrome caused by a defect in the enzyme that reduces 7-dehydrocholesterol to cholesterol.
Megumi Honda, G.S. Tint, Akira Honda, Lien B. Nguyen, Thomas S. Chen, Sarah Shefer   +5 more
doaj   +1 more source

A rapid screening procedure for cholesterol and dehydrocholesterol by electrospray ionization tandem mass spectrometry

Journal of Lipid Research, 2001
The mono-(dimethylaminoethyl) succinyl (MDMAES) ester is a new derivative for rapid, mild, and sensitive electrospray ionization tandem mass spectrometry (ESI-MS/MS) analysis of cholesterol and dehydrocholesterol.
D.W. Johnson, H.J. ten Brink, C. Jakobs
doaj   +1 more source

The ins and outs of cholesterol in the vertebrate retina

Journal of Lipid Research, 2010
The vertebrate retina has multiple demands for utilization of cholesterol and must meet those demands either by synthesizing its own supply of cholesterol or by importing cholesterol from extraretinal sources, or both. Unlike the blood-brain barrier, the
Steven J. Fliesler, Lionel Bretillon
doaj   +1 more source

Smith Lemli Opitz syndrome: a case report

Khyber Medical University Journal, 2015
INTRODUCTION; Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive genetic condition caused by deficiency of the enzyme 7-dehydrocholesterol-delta 7-reductase.
saima ali, Saffiullah Khalil, Liaqat Ali
doaj  

Smith-Lemli-Opitz syndrome: clinical and biochemical findings in Brazilian patients

Genetics and Molecular Biology, 2006
Smith-Lemli-Opitz syndrome (SLOS) or RSH syndrome comprises multiple congenital anomalies and mental retardation. The underlying defect is a deficiency in the activity of delta7-sterol reductase, which decreases cholesterol and increases 7 ...
Fernanda B. Scalco, Paulo A. Otto, Iguatemy L. Brunetti, Vania M. Cruzes, Danilo Moretti-Ferreira   +4 more
doaj   +1 more source

Dyscranio-pygo-phalangea (Ullrich-Feichtiger syndrome)

Indian Journal of Ophthalmology, 1987
A rare case of Ullrich-Feichtiger Syndrome is described. It is emphasised that though there maybe some overlap with other syndromes like Trisomy 13, Smith-Lemli-Opitz &Meckel′s, it has its own identity and should not be overlooked as a ...
Sharma P, Panda A, Angra S
doaj  

Smith-Lemli-Opitz Syndrome

Sanghera AS, Zeppieri M.
europepmc   +2 more sources

Aberrant pathways in the late stages of cholesterol biosynthesis in the rat: origin and metabolic fate of unsaturated sterols relevant to the Smith-Lemli-Opitz syndrome

Journal of Lipid Research, 2000
Minor aberrant pathways of cholesterol biosynthesis normally produce only trace levels of abnormal sterol metabolites but may assume major importance when an essential biosynthetic step is blocked.
Benfang Ruan, James Tsai, William K. Wilson, George J. Schroepfer, Jr.   +3 more
doaj   +1 more source

Bile acid synthesis in the Smith-Lemli-Opitz syndrome: effects of dehydrocholesterols on cholesterol 7α-hydroxylase and 27-hydroxylase activities in rat liver

Journal of Lipid Research, 1999
The Smith-Lemli-Opitz syndrome (SLOS) is a congenital birth defect syndrome caused by a deficiency of 3β-hydroxysterol Δ7-reductase, the final enzyme in the cholesterol biosynthetic pathway.
Akira Honda, Gerald Salen, Sarah Shefer, Ashok K. Batta, Megumi Honda, Guorong Xu, G. Stephen Tint, Yasushi Matsuzaki, Junichi Shoda, Naomi Tanaka   +9 more
doaj   +1 more source

Dental and craniofacial characteristics in a patient with Dubowitz syndrome: a case report

Journal of Medical Case Reports, 2011
Introduction Dubowitz syndrome is a very rare, autosomal recessive disease characterized by microcephaly, growth retardation, a high sloping forehead, facial asymmetry, blepharophimosis, sparse hair and eyebrows, low-set ears and mental retardation ...
Tullo Domenica, Cantore Stefania, Ballini Andrea, Desiate Apollonia   +3 more
doaj   +1 more source