Results 11 to 20 of about 226 (125)
Sterol profiles in plasma and erythrocyte membranes in patients with Smith-Lemli-Opitz syndrome: a six-year experience [PDF]
, 2011 Background: This study reports our experience over the last six years in the diagnosis of Smith-Lemli-Opitz syndrome and other inborn errors of cholesterol biosynthesis.
P. Pianese +13 more
core +2 more sources
Stability study of dehydrocholesterols in dried spot of blood from patients with Smith–Lemli–Opitz syndrome, using filter-paper treated with butylated hydroxytoluene [PDF]
, 2012 Considering the clinical importance of implementing a screening method for cholesterol and dehydrocholesterols in dried blood spot, this study aims to standardize the preanalytical variability of DHC in DBS for detecting SLOS by using filter paper ...
CORSO, GAETANO +8 more
core +1 more source
A New Route to 7-Dehydrocholesterol, Provitamin D3 [PDF]
Nature, 1946 IN 1935, Windaus, Lettre and Schenck1 described the preparation from cholesterol (I) of 7-dehydrocholesterol (III), which on irradiation gave a highly antirachitic product (vitamin D3), later2 shown to be identical with the naturally occurring vitamin D isolated from tunny liver oil.
H. B. HENBEST +4 more
openaire +2 more sources
7-Dehydrocholesterol is an endogenous suppressor of ferroptosis [PDF]
, 2021 Abstract Ferroptosis is a form of cell death that has received considerable attention not only as a means to eradicate defined tumour entities but also because it provides unforeseen insights into the metabolic adaptation exploited by tumours to counteract phospholipid oxidation.
Jose Pedro Friedmann Angeli +30 more
openaire +1 more source
Localization and biosynthesis of 7-dehydrocholesterol in rat skin
Journal of Lipid Research, 1964 By differential assay, the concentration of 7-dehydrocholesterol in the dead keratin layer, the epidermal mucosa, the sebaceous glands and associated appendages of the epidermis, and the dermis of rat skin was determined; 85% of the 7-dehydrocholesterol was isolated from slices of skin that contained surface keratin and sebaceous glands.Slices of skin ...
J.L. Gaylor, Frances M. Sault
openaire +3 more sources
Advanced Science, EarlyView.This study reveals a novel GC therapy targeting cholesterol homeostasis. Inhibiting the SCAP sterol‐sensing domain causes lethal ER stress via cholesterol accumulation, paradoxically forcing continuous synthesis that triggers ferroptosis. The findings link sterol sensing, metabolic dysregulation, and ferroptosis, establishing an anti‐cancer paradigm ...
Qianqian Xu +17 more
wiley +1 more source
Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland +4 more
wiley +1 more source
Harnessing ferroptosis from multilayer defense networks to nanoplatforms for specific cancer therapy
BMEMat, EarlyView.Nanomaterials target metabolically‐regulated ferroptosis for cancer therapy. Iron‐based or alternative nanoplatforms integrate ferroptosis with chemotherapy, immunotherapy, or radiotherapy. They enable stimulus‐responsive therapies (photothermal, photodynamic, sonodynamic) activated by near‐infrared, light, or ultrasound, achieving potent synergistic ...
Xinyue Xu +5 more
wiley +1 more source
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 +5 more
wiley +1 more source
Relationship between vitamin D deficiency and early implant failure and osseointegration
Periodontology 2000, EarlyView.Abstract Background This systematic review investigated the relationship between pre‐operative vitamin D levels and implant osseointegration and implant‐related outcomes. It also assessed studies involving vitamin D supplementation before implant placement.
Richard J. Miron +8 more
wiley +1 more source