Lnc2300 is a cis‐acting long noncoding RNA of CYP11A1 in ovarian granulosa cells
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Cellular Physiology"
DOI: 10.1002/jcp.30872
Abstract: The high level of progesterone and 17β‐estradiol ratio (P4/E2) in follicular fluid has been considered as a biomarker of follicular atresia. CYP11A1, the crucial gene encoding the rate‐limiting enzyme for steroid hormone synthesis, has been… read more here.
Keywords: follicular atresia; cyp11a1; rna; mir 365 ... See more keywords
A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency
Sign Up to like & getrecommendations! Published in 2017 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.322
Abstract: The CYP11A1 gene encodes the cytochrome P450 side‐chain cleavage enzyme, which is essential for steroid formation. Recessive variants in this gene can lead to impairment of sexual differentiation caused by a complete or partial loss… read more here.
Keywords: cyp11a1 trans; variant cyp11a1; cyp11a1; splice site ... See more keywords
Heterozygous mutations in the cholesterol side-chain cleavage enzyme gene (CYP11A1) can cause transient adrenal insufficiency and life-threatening failure to thrive
Sign Up to like & getrecommendations! Published in 2018 at "Hormones"
DOI: 10.1007/s42000-018-0048-y
Abstract: The first and rate-limited step of steroidogenesis in all steroidogenic tissues is the conversion of cholesterol to pregnenolone, catalysed by P450scc side-chain cleavage enzyme (CYP11A1 gene—SCC). SCC deficiency has been characterised as an autosomal recessive… read more here.
Keywords: cyp11a1; failure thrive; adrenal insufficiency; gene ... See more keywords
Expression and activation of the steroidogenic enzyme CYP11A1 is associated with IL-13 production in T cells from peanut allergic children
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DOI: 10.1371/journal.pone.0233563
Abstract: Activation of the steroidogenic enzyme CYP11A1 was shown to be necessary for the development of peanut-induced intestinal anaphylaxis and IL-13 production in allergic mice. We determined if levels of CYP11A1 in peripheral blood T cells… read more here.
Keywords: production; steroidogenic enzyme; enzyme cyp11a1; cyp11a1 ... See more keywords
Can Digenic, Tri-Allelic Inheritance of Variants in STAR and CYP11A1 Give Rise to Primary Adrenal Insufficiency? A Case Report
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Endocrinology"
DOI: 10.3389/fendo.2022.860055
Abstract: An eight-year old South Asian boy presenting with progressive hyperpigmentation was found to have primary adrenal insufficiency (PAI) in the form of isolated glucocorticoid deficiency. Follow up of this boy for nine years, until the… read more here.
Keywords: adrenal insufficiency; variants star; allelic inheritance; cyp11a1 ... See more keywords
CYP11A1 Upregulation Leads to Trophoblast Oxidative Stress and Fetal Neurodevelopmental Toxicity That can be Rescued by Vitamin D
Sign Up to like & getrecommendations! Published in 2020 at "Frontiers in Molecular Biosciences"
DOI: 10.3389/fmolb.2020.608447
Abstract: During normal pregnancy, the placental trophoblast secretes a variety of steroid hormones and participates in the regulation of maternal physiological functions and fetal development. The CYP11A1 gene encodes the cholesterol side-chain cleavage enzyme P450scc, which… read more here.
Keywords: upregulation leads; cyp11a1; cyp11a1 upregulation; oxidative stress ... See more keywords