Results 51 to 60 of about 3,608 (158)
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 +4 more
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Smith-Lemli-Opitz syndrome: Bosnian and Herzegovinian experience
Balkan Journal of Medical Genetics, 2021 The aim of this paper is to present a patient with the Smith-Lemli-Opitz syndrome (SLOS), with an overview of the modality of diagnosis, and the treatment of the patient. Exome analysis showed two variants in exon 6 of the 7-dehydrocholesterol reductase (
Begic N, Begic Z, Begic E
doaj +1 more source
Food Science &Nutrition, Volume 14, Issue 7, July 2026.This study demonstrates that alliin reduces intracellular lipid accumulation and alters protein expression in ox‐LDL‐induced HepG2 cells. These effects are linked to cholesterol metabolism and the PPAR and PI3K/Akt signaling pathways. Mechanistically, alliin regulates the PCSK9/LDLR axis, indicating its role in maintaining intracellular cholesterol ...
Yuanyuan Tang, Xiaoshi Liu
wiley +1 more source
Journal of Lipid Research, 2014 We describe a highly sensitive method for the detection of 7-dehydrocholesterol (7-DHC), the biosynthetic precursor of cholesterol, based on its reactivity with 4-phenyl-1,2,4-triazoline-3,5-dione (PTAD) in a Diels-Alder cycloaddition reaction.
Wei Liu +5 more
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7-Dehydrocholesterol-derived oxysterols cause neurogenic defects in Smith-Lemli-Opitz syndrome
eLife, 2022 Defective 3β-hydroxysterol-Δ7 -reductase (DHCR7) in the developmental disorder, Smith-Lemli-Opitz syndrome (SLOS), results in a deficiency in cholesterol and accumulation of its precursor, 7-dehydrocholesterol (7-DHC).
Hideaki Tomita +5 more
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American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1179-1191, June 2026.ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson +1 more
wiley +1 more source
Cholesterol homeostasis in development: The role of Xenopus 7‐dehydrocholesterol reductase (Xdhcr7) in neural development [PDF]
Developmental Dynamics, 2006 Abstract7‐dehydrocholesterol reductase (7‐Dhcr) catalyses the final step in the pathway of cholesterol biosynthesis. Human patients with inborn errors of 7‐Dhcr (Smith‐Lemli‐Opitz‐Syndrome) have elevated serum levels of 7‐dehydrocholesterol but low levels of cholesterol, which in phenotypical terms can result in growth retardation, craniofacial ...
Emmanuel, Tadjuidje, Thomas, Hollemann
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Diagnosis of Smith-Lemli-Opitz syndrome by ultraviolet spectrophotometry
Brazilian Journal of Medical and Biological Research, 2003 Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder due to an inborn error of cholesterol metabolism, characterized by congenital malformations, dysmorphism of multiple organs, mental retardation and delayed neuropsychomotor development ...
F.B. Scalco +4 more
doaj +1 more source
Metal‐dependent regulated cell death: Molecular architecture and translational frontiers
iMeta, Volume 5, Issue 3, June 2026.Intracellular metal dyshomeostasis orchestrates distinct regulated cell death programs, including iron‐driven ferroptosis, copper‐mediated cuproptosis, calcicoptosis, newly designated zincoptosis, mnoptosis, and coptosis. This review systematically delineates their molecular architectures—spanning from Sorafenib‐induced lipid peroxidation and ...
Haoliang Hu +20 more
wiley +1 more source
, 2022 Abstract Background: DHCR7, a switch between cholesterol and vitamin D synthesis that plays a pivotal role in tumorigenesis, is a promising therapeutic target in oncology. Despite increasing strong support for its importance, there is no pan-cancer analysis across multiple databases that can be available for in-depth data mining of the gene ...
Wumin Dai +4 more
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