Mapping molluscan endocrinology: a systematic and critical appraisal. [PDF]
ABSTRACT Historically, a vertebrate‐centric paradigm has framed our interpretation of molluscan endocrinology, with considerable research focusing on vertebrate‐type steroid hormones (e.g. oestrogens, testosterone). However, contradictory evidence on the occurrence of vertebrate‐type steroid hormones in molluscan tissues, and a lack of the specific ...
Panagiotidis K +3 more
europepmc +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]
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 ...
DELLO RUSSO, ANTONIO +2 more
core +1 more source
The impaired conversion of 7-dehydrocholesterol to cholesterol, as a result of a permanent inhibition of the activity of 7-dehydrocholesterol-delta 7-reductase, has been reported in the Smith-Lemli-Opitz (SLO) syndrome (1, 2).
C Wolf +6 more
doaj +1 more source
Cholesterolomics: An update [PDF]
Cholesterolomics can be regarded as the identification and quantification of cholesterol, its precursors post squalene, and metabolites of cholesterol and of its precursors, in a biological sample.
Alvelius +86 more
core +1 more source
Manipulation of isoprenoid biosynthesis in mevalonate kinase deficiency [PDF]
Pregnant and lactating women and breastfed infants are at risk of vitamin D deficiency. The supplemental vitamin D dose that optimises maternal vitamin D status and breast milk antirachitic activity (ARA) is unclear.
Schneiders, M.S.
core +9 more sources
Direct analysis of sterols from dried plasma/blood spots by an atmospheric pressure thermal desorption chemical ionization mass spectrometry (APTDCI-MS) method for a rapid screening of Smith-Lemli-Opitz syndrome. [PDF]
Here is proposed a rapid and sensitive method involving atmospheric pressure thermal desorption chemical ionization mass spectrometry (APTDCI-MS) for specific laboratory screening of the Smith– Lemli–Opitz syndrome (SLOS), an inherited defect of ...
Corso G. +4 more
core +1 more source
Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome.
The Smith-Lemli-Opitz syndrome is caused by an inherited defect in 7-dehydrocholesterol-delta7-reductase, the enzyme that catalyzes the last reaction in cholesterol biosynthesis, the conversion of 7-dehydrocholesterol to cholesterol.
G Salen +7 more
doaj +1 more source
A novel syndrome associated with prenatal fentanyl exposure. [PDF]
A novel syndrome was suspected in individuals sharing short stature, microcephaly, distinctive facial features, and congenital anomalies. We enrolled 6 patients in an institutional review board approved study and evaluated medical history, findings ...
Alves, Carolina +13 more
core +1 more source
The Smith-Lemli-Opitz syndrome is a common birth defect syndrome characterized biochemically by low plasma cholesterol levels and high concentrations of the cholesterol precursor 7-dehydrocholesterol.
A Honda +5 more
doaj +1 more source
Plasma sterols and vitamin D are correlates and predictors of ozone-induced inflammation in the lung: A pilot study [PDF]
BACKGROUND: Ozone (O3) exposure causes respiratory effects including lung function decrements, increased lung permeability, and airway inflammation. Additionally, baseline metabolic state can predispose individuals to adverse health effects from O3.
Alexis, N.E. +11 more
core +2 more sources

