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tissue-specific steroid concentrations may have a strong impact on CYP7B1-dependent catalysis and thus on the levels of different CYP7B1-related steroids that can influence estrogen receptor beta signaling
SPG11 and CYP7B1 were the most common cause of autosomal recessive hereditary spastic paraplegia in Greece.
miR17 induces epithelial-mesenchymal transition consistent with the cancer stem cell phenotype by regulating CYP7B1 expression in colon cancer.
The two novel variants cosegregated with pyramidal signs and autoimmune diseases suggesting that they might be susceptibility factors.
Data indicate two novel homozygous mutations (one frameshift and one missense mutation) detected in CYP7B1 (SPG5A), while no disease-causing mutation was identified for PNPLA6 (SPG39) and C19orf12 (SPG43).
Data indicated that the two GWAS-defined variants in the CYP7B1 region do not strongly influence HIV-1 infection susceptibility.
Using an agnostic omics approach to focus on the association of CWP with body mass index, we have confirmed a steroid hormone association and identified a genetic variant upstream of the CYP genes, which likely controls this response.
Spastic paraplegia type 5 has a higher frequency in Taiwanese than in other ethnic groups, associated with a CYP7B1 founder mutation and its phenotype is characterized by pronounced dorsal column sensory loss, with cerebellar ataxia in some patients.
The patient was homozygous for a mutation (c.1249C>T) in CYP7B1 that alters a highly conserved residue in oxysterol 7 alpha-hydroxylase previously reported in a family with hereditary spastic paraplegia type 5
enduring sensory ataxia can be a pivotal sign in SPG5, and expands the phenotypic spectrum associated with mutations in CYP7B1
4 novel mutations described in hereditary spastic paraplegia type 5A: 1 frameshift (c.509 delT p.L170fs), 1 premature stop codon (c.334 C>T p.R112X), 1 amino acid changing (c.440 G>A p.G147D) and 1 duplication (c.945_947 dupGGC p.A316AA)
21-hydroxy-pregnenolone was identified as a new substrate, and overall low activity toward pregnanes could be related to the increased potency of 7-hydroxy derivatives produced by CYP7B1.
investigation of CYP7B1-substrate binding modes
Description of a homology model for human CYP7B1 that provides valuable information on the active site architecture, along with docking studies that analyzed ligand-binding interactions.
Five CYP7B1 mutations, three of which are novel, were identified in four patients with hereditary spastic paraplegia type 5.
analysis of the first Japanese patient with an oxysterol 7alpha-hydroxylase deficiency associated with compound heterozygous mutations of the CYP7B1 gene [case report]
We identifies a Chinese family with hereditary spastic paraplegia due to compound heterozygous mutations in the CYP7B1 gene.
In Alzheimer's disease (AD). CYP7B mRNA was significantly decreased (approximately 50% decline; P<0.05) in dentate neurons from AD subjects compared with controls.
Promotor activity of the human oxysterol 7alpha-hydroxylase gene is suppressed by sterol response element binding protein.
Single polymorphism in the CYP7B1 gene is associated with phenotypic differences in an expression system and a widely different allele frequency in two ethnic populations, with great differences in the incidence of prostate cancer.
CYP7B catalyzes oxysterol 7alpha-hydroxylation within the human prostate epithelium and an ERbeta-specific agonist, 7HD, is produced.
Findings indicate that CYP7B1 and HSD3B7, as well as CH25H, have essential roles in controlling oxysterol production in lymphoid tissues.
Increasing 27-hydroxycholesterol concentrations by genetic means leads to decrease bone mineral density.
Because CYP7B1 represents the major pathway for inactivating 3betaAdiol in the prostate, we suggest that ERbeta, 3betaAdiol, and CYP7B1 are the components of a pathway that regulates growth of the rodent ventral prostate.
Identification of Cyp7b1 as a novel RORalpha (NR1F1) target gene and a functional cross-talk between RORalpha and liver X receptor (NR1H3).
Data show that ten genes (Fsp27, Aqp4, Cd36, Ly6d, Scd1, Hsd3b5, Syt1, Cyp7b1, and Tff3) showed significant associations among their expressions and the degree of hepatic steatosis.
CYP7B1-mediated catalysis may play a role for control of the cellular levels of androgens, not only of estrogens.
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum membrane protein catalyzes the first reaction in the cholesterol catabolic pathway of extrahepatic tissues, which converts cholesterol to bile acids. This enzyme likely plays a minor role in total bile acid synthesis, but may also be involved in the development of atherosclerosis, neurosteroid metabolism and sex hormone synthesis.
, cytochrome P450, family 7, subfamily B, polypeptide 1
, 25-hydroxycholesterol 7-alpha-hydroxylase
, cytochrome P450 7B1
, cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1
, oxysterol 7-alpha-hydroxylase
, cytochrome P450, 7b1
, hippocampal transcript 1 protein
, cytochrome P450, subfamily 7B, polypeptide 1