Results 41 to 50 of about 3,608 (158)

First Trimester Prenatal Diagnosis of Smith-Lemli-Opitz Syndrome(7-Dehydrocholesterol Reductase Deficiency) [PDF]

Pediatric Research, 1996
In Smith-Lemli-Opitz syndrome (SLOs), 7-dehydrocholesterol (7-DHC) accumulated because there is a block in the pathway for synthesis of cholesterol via 7-DHC. Prenatal diagnosis of SLOs has been achieved by analysis of 7-DHC in amniotic fluid obtained at 16-18 wk from pregnancies at risk.
K, Mills, H, Mandel, R, Montemagno, P, Soothill, R, Gershoni-Baruch, P T, Clayton   +5 more
openaire   +2 more sources

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

Sterols in blood of normal and Smith-Lemli-Opitz subjects

Journal of Lipid Research, 2001
Smith-Lemli-Opitz syndrome (SLOS) is a hereditary disorder in which a defective gene encoding 7-dehydrocholesterol reductase causes the accumulation of noncholesterol sterols, such as 7- and 8-dehydrocholesterol.
Benfang Ruan, William K. Wilson, Jihai Pang, Nicolas Gerst, Frederick D. Pinkerton, James Tsai, Richard I. Kelley, Frank G. Whitby, Dianna M. Milewicz, James Garbern, George J. Schroepfer, Jr.   +10 more
doaj   +1 more source

RAB4A acts as a negative feedback regulator of extracellular vesicle secretion during TGF‐β signaling

The FEBS Journal, EarlyView.
TGF‐β signaling regulates extracellular vesicle (EV) release in cancer cells by modulating the expression and activity of genes associated with EV biogenesis. The TGF‐β‐induced upregulation of RAB4A expression facilitates fast endosomal recycling, a process that limits the fusion of multivesicular bodies with the plasma membrane and EV secretion. Hence,
Dorival Mendes Rodrigues‐Junior, Maria Anastasia Doumani, Hao Fu, Jelle van den Bor, Olof Idevall‐Hagren, Aristidis Moustakas   +5 more
wiley   +1 more source

Dietary cholesterol supplementation and inhibitory factor 1 serum levels in two dizygotic Smith-Lemli-Opitz syndrome twins: a case report

Italian Journal of Pediatrics, 2020
Background Smith-Lemli-Opitz syndrome (SLOS) is a rare genetic neurodevelopmental disorder caused by the defect in the 7-dehydrocholesterol reductase.
Maurizio Delvecchio, Biagio Rapone, Simonetta Simonetti, Simona Fecarotta, Graziana De Carlo, Elvira Favoino, Maria Teresa Loverro, Anna Maria Isdraele Romano, Federica Taurino, Edoardo Di Naro, Antonio Gnoni   +10 more
doaj   +1 more source

HvarAKR1B1‐mediated tolerance in Hippodamia variegata: Deciphering the metabolic adaptation and fitness costs under prolonged starvation

Pest Management Science, Volume 82, Issue 8, Page 7903-7914, August 2026.
Starvation stress significantly affected the growth and development of Hippodamia variegata. Combined transcriptome and metabolome analysis and RNA interference verification revealed that HvarAKR1B1 may be involved in the response of Hippodamia variegata to starvation stress.
Bing‐mei Song, De‐qin Hu, Yuan Li, Wang‐quan Jiao, Xiao‐li Ma, Hong‐sheng Pan   +5 more
wiley   +1 more source

DHCEO accumulation is a critical mediator of pathophysiology in a Smith–Lemli–Opitz syndrome model

Neurobiology of Disease, 2012
Smith–Lemli–Opitz syndrome (SLOS) is an inborn error of metabolism caused by defective cholesterol biosynthesis. Mutations within the gene encoding 7-dehydrocholesterol reductase (DHCR7), the last enzyme in the pathway, lead to the accumulation of 7 ...
Libin Xu, Karoly Mirnics, Aaron B. Bowman, Wei Liu, Jennifer Da, Ned A. Porter, Zeljka Korade   +6 more
doaj   +1 more source

Steroidogenic compensation and lipid deficiency with enhanced NAD+ salvage in small‐for‐gestational‐age placenta

The FEBS Journal, Volume 293, Issue 15, Page 4554-4577, August 2026.
Fetal growth restriction is associated with placental metabolic adaptations. In small‐for‐gestational‐age placenta (SGA), cholesterol receptors and steroidogenic enzymes are upregulated, enhancing steroidogenesis. NAD salvage pathway is also increased to support NADP+/NADPH requirements.
Serena Xodo, Lorenza Driul, Vanessa Tolotto, Eros Di Giorgio, Luigi E. Xodo   +4 more
wiley   +1 more source

Assays of plasma dehydrocholesteryl esters and oxysterols from Smith-Lemli-Opitz syndrome patients[S]

Journal of Lipid Research, 2013
Smith-Lemli-Opitz syndrome (SLOS) is caused by mutations in the gene encoding 3β-hydroxysterol-Δ7-reductase and as a result of this defect, 7-dehydrocholesterol (7-DHC) and 8-dehydrocholesterol (8-DHC) accumulate in the fluids and tissues of patients ...
Wei Liu, Libin Xu, Connor R. Lamberson, Louise S. Merkens, Robert D. Steiner, Ellen R. Elias, Dorothea Haas, Ned A. Porter   +7 more
doaj   +1 more source

Reconfiguring biofortification strategies to transform food systems and address micronutrient deficiency of the 21st century

Journal of Integrative Plant Biology, Volume 68, Issue 8, Page 2511-2547, August 2026.
This review explores how to make staple foods and horticultural crops more nutritious, including how artificial intelligence‐based screening of gene banks helps deploy nutritionally rich germplasm into breeding. Genome editing can help develop crops richer in minerals, vitamins, and health‐promoting compounds, supporting healthier diets and more ...
Rhowell Jr. N. Tiozon, Alisdair R. Fernie, Nese Sreenivasulu   +2 more
wiley   +1 more source