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Published in 2017 at "Molecular Biotechnology"
DOI: 10.1007/s12033-017-0028-5
Abstract: Abstract2A peptide discovered in Picornaviridae is capable of self-cleavage providing an opportunity to carry out synthesis of several proteins using one transcript. Dissociation in the 2A sequence during translation leads to the individual proteins formation.…
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Keywords:
cholesterol hydroxylase;
hydroxylase lyase;
system;
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Published in 2017 at "Journal of chemical information and modeling"
DOI: 10.1021/acs.jcim.6b00759
Abstract: Cytochrome P450 17A1 (CYP17A1) catalyzes C17 hydroxylation of pregnenolone and progesterone and the subsequent C17-C20 bond cleavage (lyase reaction) to form androgen precursors. Compound I (Cpd I) and peroxo anion (POA) are the heme-reactive species…
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Keywords:
hydroxylase lyase;
p450 17a1;
reaction;
lyase ... See more keywords
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Published in 2023 at "Blood pressure"
DOI: 10.1080/08037051.2023.2195008
Abstract: Aim: 17 α-hydroxylase/17,20-lyase deficiency (17-OHD) is an extremely rare autosomal recessive disorder that typically causes hypertension, hypokalaemia, primary amenorrhoea, and the absence of secondary sex characteristics in 46,XX individuals. Partial 17-OHD is even rarer than…
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Keywords:
hydroxylase lyase;
hypertension hypokalaemia;
cyp17a1 mutation;
primary amenorrhoea ... See more keywords
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Published in 2019 at "Gynecological Endocrinology"
DOI: 10.1080/09513590.2018.1540576
Abstract: Abstract 17α-Hydroxylase/17,20-lyase deficiency (17-OHD) is a rare disease caused by mutations of the CYP17A1 gene. Slipped capital femoral epiphysis (SCFE) rarely occurs in adults. There are occasional reports of adrenal myelolipoma (AML) in 17-OHD. A…
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Keywords:
hydroxylase lyase;
lyase deficiency;
slipped capital;
femoral epiphysis ... See more keywords
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Published in 2022 at "Women's Health"
DOI: 10.1177/17455057221122597
Abstract: Here, we reported a case of a 16-year-old Chinese female patient (46, XX) diagnosed as 17α-hydroxylase/17, 20-lyase deficiency (17-OHD) in June 2018 and over 3 years follow-up outcomes; 17-OHD is a rare form of congenital adrenal…
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Keywords:
hydroxylase lyase;
follow outcomes;
case;
lyase deficiency ... See more keywords
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Published in 2022 at "Journal of the Endocrine Society"
DOI: 10.1210/jendso/bvac011
Abstract: Abstract Context There are more than 100 pathogenic variants in CYP17A1 that have been identified in patients with 17α-hydroxylase/17,20-lyase deficiency (17OHD). Objective We aimed to describe 46,XY patients with 17OHD from our center and review…
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Keywords:
hydroxylase lyase;
review literature;
deficiency;
lyase deficiency ... See more keywords
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Published in 2022 at "Frontiers in Endocrinology"
DOI: 10.3389/fendo.2022.971993
Abstract: Context High progesterone levels in the follicular stage interfere with the implantation window, causing infertility in women with 17-hydroxylase/17,20-lyase deficiency (17OHD). Dexamethasone can restore cortisol deficiency and suppress inappropriate mineralocorticoid secretion to control hypertension in…
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Keywords:
hydroxylase lyase;
day;
progesterone;
non classic ... See more keywords
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Published in 2019 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2019.00996
Abstract: Background: Congenital adrenal hyperplasia (CAH) encompasses a group of autosomal recessive diseases characterized by enzyme deficiencies, within steroid hormone anabolism, which lead to disorders in cortisol synthesis. The 17α-hydroxylase/17,20-lyase deficiency (17-OHD) is an uncommon form…
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Keywords:
hydroxylase lyase;
novel compound;
lyase deficiency;
cyp17a1 ... See more keywords
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Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.845016
Abstract: 17a-Hydroxylase/17,20-lyase deficiency (17OHD) is caused by pathogenic mutations in CYP17A1. Female patients present with hypertension, hypokalemia, and sexual infantilism while males present with sex development disorder. Moyamoya disease (MMD) is a chronic cerebrovascular disease that…
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Keywords:
hydroxylase lyase;
disease;
lyase deficiency;
17a hydroxylase ... See more keywords