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. 2025 Jul 11;26(14):6672. doi: 10.3390/ijms26146672
25(OH)D 25-hydroxyvitamin D
4HDHC 4β-hydroxy-7-dehydrocholesterol
4-OH-DHC 4α- and 4β-hydroxy-7-DHC
5-HT1A Serotonin 1A receptors
7-DHC 7-dehydrocholesterol
7-DHCR 7-dehydrocholesterol reductase
7-kChol 7-ketocholesterol
7-kDHC 7-keto-cholesta-5,8-dien-3β-ol
7-PT 7-dehydropregnanetriol
8-DHC 8-dehydrocholesterol
8-PT 8-dehydropregnanetriol
ASCVD Atherosclerotic cardiovascular disease
ASD Autism spectrum disorder
C/EBP CCAAT/enhancer binding protein
CNS Central nervous system
CRALBP Cellular retinaldehyde-binding protein
CSF Cerebrospinal fluid
CYP27 Sterol 27-hydroxylase
DEGs Differentially expressed genes
DHCDO 3β,5α-dihydroxycholesta-7,9(11)-dien-6-one
DHCEO 3β,5α-dihydroxycholest-7-en-6-one
DHCR7 7-dehydrocholesterol reductase gene
EMT Epithelial–mesenchymal transition
EPCD 5,9-endoperoxy-cholest-7-en-3β,6α-diol
ER Endoplasmic reticulum
ERK Extracellular signal-regulated kinase
GC-MS Gas chromatography–mass spectrometry
GFAP Glial fibrillary acidic protein
GI Gastrointestinal
GR Glucocorticoid receptor
HDL High-density lipoprotein
Hh Hedgehog
hiPSCs Human induced pluripotent stem cells
HMG-CoA Hydroxymethylglutaryl-CoA
IF1 Inhibitory factor 1
iPSCs Induced pluripotent stem cells
IUGR Intrauterine growth restriction
LC-MS/MS Liquid chromatography–tandem mass spectrometry
LOVD Leiden Open Variation Database
LPS Lipopolysaccharides
MALDI-MSI Matrix-assisted laser desorption ionization mass spectrometry imaging
MAP2 Microtubule-associated protein 2
MEK Mitogen-activated protein kinase kinase
MRI Magnetic resonance imaging
mRPE Monkey retinal pigment epithelium
mTORC1 Mammalian target of rapamycin complex 1
PT Pregnanetriol
RPE Retinal pigment epithelial
RPE-65 Retinal pigment epithelium-specific 65 kDa protein
RTK Receptor tyrosine kinase
SHH Sonic Hedgehog
SLOS Smith–Lemli–Opitz syndrome
SMA α-smooth muscle actin
Smad2 Mothers against decapentaplegic homolog 2
SREBPs Sterol regulatory element-binding proteins
SSS SLOS Severity Score
SYP Synaptophysin
TGF-β Transforming growth factor beta
THCEO 3β,5α,9α-trihydroxycholest-7-en-6-one
TLR4 Toll-like receptor 4
TOF-SIMS Time-of-flight secondary ion mass spectrometry
TUBB3 Tubulin Beta 3 Class III
TβR-I TGF-β receptor I
TβR-II TGF-β receptor II
US Ultrasound imaging
Wnt Wingless/integrated
Δ8-isomerase Steroid 8-isomerase
CVS Chorionic villus sampling