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*  Direct molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia. | Journal of Medical Genetics
The majority of congenital adrenal hyperplasia (CAH) cases arise from mutations in the steroid 21-hydroxylase (CYP21) gene. ...
http://jmg.bmj.com/content/33/5/371
*  Genetics and clinical presentation of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
This conversion is mediated by 21-hydroxylase, the enzyme encoded by theCYP21A2gene.Patients with c ... Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man. Proc ... Mapping of steroid 21-hydroxylase genes adjacent to complement component C4 genes in HLA, the major histocompatibility complex ... Mutations of the steroid 21-hydroxylase gene in an Argentinian population of 36 patients with classical congenital adrenal ...
http://www.uptodate.com/contents/genetics-and-clinical-presentation-of-classic-congenital-adrenal-hyperplasia-due-to-21-hydroxylase-deficiency
*  Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 Oxidoreductase deficiency - ePrints...
Urinary steroid profiling revealed combined CYP17A1 and CYP21A2 deficiencies indicative of ORD in all patients; all but one ... enzymes including 17α-hydroxylase (CYP17A1), 21-hydroxylase (CYP21A2) and P450 aromatase. Mutant POR causes congenital adrenal ... hyperplasia with combined glucocorticoid and sex steroid deficiency. P450 oxidoreductase deficiency (ORD) commonly presents ...
http://eprints.bham.ac.uk/565/
*  Congenital Adrenal Hyperplasia - Articles on Medical Diseases and Conditions
The most common of these are types I and II, which are due to C21-hydroxylase enzyme deficiency. All CAH variants are inherited ... Normally, the quantitative production of adrenal androgen is small; however, if the steroid precursors pile up (due to block in ... Second, the adrenal glands themselves increase in size due to hyperplasia of the steroid-producing adrenal cortex. This results ... Since 21-hydroxylase deficiency is responsible for more than 90% of the CAH variants and the others are rare, only laboratory ...
http://med-life.net/2009/12/22/congenital-adrenal-hyperplasia/
*  Synergistic effect of partially inactivating mutations in steroid 21-hydroxylase deficiency.
... Nikoshkov A., Lajic S., Holst M. ... Lesions in the gene encoding steroid 21-hydroxylase result in congenital adrenal hyperplasia, with impaired secretion of ... motivating their inclusion when genotyping to ascertain undiagnosed patients with the mildest forms of 21-hydroxylase ...
https://www.uniprot.org/citations/8989258
*  Mutation in the CYP21B gene (Ile-172--|Asn) causes steroid 21-hydroxylase deficiency.
Mutation in the CYP21B gene (Ile-172--,Asn) causes steroid 21-hydroxylase deficiency.. Amor M., Parker K.L., Globerman H., New ... Steroid 21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia. It results from a deficiency in a ... Gene conversion may be a frequent cause of 21-hydroxylase deficiency alleles due to the presence of six chi-like sequences ( ...
https://www.uniprot.org/citations/3257825
*  Two steroid 21-hydroxylase genes are located in the murine S region - Semantic Scholar
To determine whether 21-OH genes are located in the H-2 complex, we have now used a bovine adrenal complementary DNA clone ... We found that there are two 21-OH genes in this region, located immediately 3′ to the C4 and Slp genes. ... 21-OH) deficiency, is linked to the HLA major histocompatibility complex (MHC)1, and is associated in particular with certain ... this disorder was demonstrated to result from a defective structural gene for the 21-OH enzyme, also termed cytochrome P-450C21 ...
https://www.semanticscholar.org/paper/Two-steroid-21-hydroxylase-genes-are-located-in-the-White-Chaplin/f60076aec74db5b36d8298b16795b53677c05c35
*  AccessGUDID - DEVICE: STEROID 21-HYDROXYLASE ANTIBODY (21-OHAb) RIA ASSAY KIT (B126KR60100)
A radioimmunoassay for the semi-quantitative determination of antibodies to steroid 21-hydroxylase (21-OH) in human serum. ... STEROID 21-HYDROXYLASE ANTIBODY (21-OHAb) RIA ASSAY KIT (B126KR60100)- ... STEROID 21-HYDROXYLASE ANTIBODY (21-OHAb) RIA ASSAY KIT Version or Model:. KR6010 Commercial Distribution Status:. In ... A radioimmunoassay for the semi-quantitative determination of antibodies to steroid 21-hydroxylase (21-OH) in human serum. ...
https://accessgudid.nlm.nih.gov/devices/B126KR60100
*  Human Metabolome Database: Showing metabocard for 17-Hydroxyprogesterone (HMDB0000374)
Has steroid 11-beta-hydroxylase activity. In addition to this activity, the 18 or 19-hydroxylation of steroids and the ... 3. Steroid 17-alpha-hydroxylase/17,20 lyase. General function:. Involved in monooxygenase activity. Specific function:. ... 11-beta-Hydroxylase deficiency. *Burren CP, Montalto J, Yong AB, Batch JA: CYP11 beta 1 (11-beta-hydroxylase) deficiency in ... Steroids. 2003 Oct;68(9):707-17. [PubMed:14625002 ] *Gibney MJ, Walsh M, Brennan L, Roche HM, German B, van Ommen B: ...
http://www.hmdb.ca/metabolites/HMDB0000374
*  Keegan CE[au] - PubMed - NCBI
An overview of molecular diagnosis of steroid 21-hydroxylase deficiency.. Keegan CE, Killeen AA. ... 21.. Next-generation sequencing identifies the Danforth's short tail mouse mutation as a retrotransposon insertion affecting ... Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase ...
https://www.ncbi.nlm.nih.gov/pubmed?cmd=search&term=Keegan+CE%5Bau%5D&dispmax=50
*  All results | Evidence search | NICE
Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency : an Endocrine Society clinical practice guideline [PDF ... 21 November 2016. - Publisher: NHS RightCare This pathway has been produced by NHS RightCare. NHS RightCare is a programme ... 21 November 2017. - Publisher: NHS RightCare Produced in collaboration with the NHS England Learning Disability team, the NHS ... a systematic review and meta-analysis of 21 329 person-years of follow-up Remove: Endocrine Society source - 14 May 2014. - ...
https://www.evidence.nhs.uk/search?om=%5B%7B%22ety%22:%5B%22Patient%20Decision%20Aids%22%5D%7D,%7B%22ety%22:%5B%22Guidance%22%5D%7D,%7B%22srn%22:%5B%22NHS%20RightCare%22%5D%7D,%7B%22srn%22:%5B%22Endocrine%20Society%22%5D%7D%5D&ps=50&sp=on
*  KEGG SSDB Paralog Search Result: tup:102491327
tup:102472543 steroid 17-alpha-hydroxylase/17,20 lyase K00512 508 678 ( -) 160 0.275 483 -, tup:102484009 cytochrome P450 1A1 ... tup:102483333 phylloquinone omega-hydroxylase CYP4F2 K17726 466 328 ( -) 81 0.245 436 -, tup:102471009 sterol 26-hydroxylase, ... steroid 21-hydroxylase; K00513 steroid 21-monooxygenase. Update status:. T02978 (acry,aem,aid,aue,barr,bmur,brk,cir,dei,deo,fsa ... tup:102492875 25-hydroxyvitamin D-1 alpha hydroxylase, K07438 506 307 ( -) 76 0.256 481 -, tup:102477006 cytochrome P450 4A11 ...
http://www.kegg.jp/ssdb-bin/ssdb_paralog?org_gene=tup:102491327
*  KEGG SSDB Best Search Result: tup:102491327
epa:110235489 steroid 17-alpha-hydroxylase/17,20 lyase- K00512 498 718 ( 3) 170 0.318 444 -, 80 nle:100596228 steroid 17-alpha- ... bta:281741 cytochrome P450, subfamily XXI (steroid 21-h K00513 496 2336 ( 12) 538 0.735 487 ,-, 76 ptg:102966729 steroid 21- ... aam:106494668 steroid 17-alpha-hydroxylase/17,20 lyase K00512 434 713 ( 44) 168 0.347 372 -, 42 clv:102093575 steroid 17-alpha- ... asn:102372221 steroid 17-alpha-hydroxylase/17,20 lyase K00512 533 835 ( 222) 196 0.355 470 -, 85 amj:102567971 steroid 17-alpha ...
http://www.kegg.jp/ssdb-bin/ssdb_best?org_gene=tup:102491327
*  Congenital Adrenal Hyperplasia - Hyperplasia, Congenital Adrenal Summary Report | CureHunter
STEROID 11-BETA-HYDROXYLASE; STEROID 17-ALPHA-HYDROXYLASE; 3-beta-hydroxysteroid dehydrogenase (3-HYDROXYSTEROID DEHYDROGENASES ... STEROID 11-BETA-HYDROXYLASE; STEROID 17-ALPHA-HYDROXYLASE; 3-beta-hydroxysteroid dehydrogenase (3-HYDROXYSTEROID DEHYDROGENASES ... Steroid 11-beta-Hydroxylase (11 beta-Hydroxylase)IBA 08/01/1996 - "This case illustrates difficulties in correct diagnosis, ... SteroidsIBA 03/01/2013 - "The aim of this study was to determine bone mineral density (BMD), markers of bone metabolism, ...
http://www.curehunter.com/public/keywordSummaryD000312-Congenital-Adrenal-Hyperplasia-Hyperplasia--Congenital-Adrenal.do
*  H-Y Antigen Summary Report | CureHunter
Steroid 21-Hydroxylase (21 Hydroxylase) 9. Sepharose (Agarose) 10. Antigen Receptors (Antigen Receptor) ...
http://www.curehunter.com/public/keywordSummaryD006182-H-Y-Antigen.do
*  Meiosis - definition of meiosis by The Free Dictionary
Define meiosis. meiosis synonyms, meiosis pronunciation, meiosis translation, English dictionary definition of meiosis. meiosis top to bottom:In meiosis a parent cell replicates and recombines, divides once to create two daughter cells, then divides again creating four...
https://www.thefreedictionary.com/meiosis
*  Genetic analysis of the CYP21A2 gene in neonatal dried blood spots from children with transiently elevated 17...
CONCLUSION Although CAH caused by 21-hydroxylase deficiency could be genetically excluded with a reasonable degree of ... 21 heterozygous carriers of known point mutations that cause the classic and nonclassic forms of CAH were identified. ... Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline.. * ... A simple and robust quantitative PCR assay to determine CYP21A2 gene dose in the diagnosis of 21-hydroxylase deficiency.. * ...
https://www.semanticscholar.org/paper/Genetic-analysis-of-the-CYP21A2-gene-in-neonatal-Mal%C3%ADkov%C3%A1-Votava/0ad65a99ba1a90944dbf6496977dcef8ab56eadc
*  Maria New - Wikipedia
Although steroid physiology was well understood when Dr. New began her scientific career, little of the knowledge had been ... 11β-hydroxylase deficiency, and apparent mineralocorticoid excess, emphasizing genotype/phenotype correlation and prenatal ... New, MI; Levine, LS; Biglieri, EG; Pareira, J; Ulick, S (May 1977). "Evidence for an unidentified steroid in a child with ... New's research on the mechanism and genetics of steroid disorders has established standards for pre- and post-natal care for ...
https://en.wikipedia.org/wiki/Maria_New
*  21-hydroxylase deficiency pathophysiology - wikidoc
"File:Adrenal Steroids Pathways.svg - Wikimedia Commons".. *↑ Finkielstain GP, Chen W, Mehta SP, Fujimura FK, Hanna RM, Van ... Below is the hormonal pathway of adrenal steroids and related enzymes, also the mechanism of 21 hydroxylase deficiency symptoms ... "Structure of human steroid 21-hydroxylase genes". Proc. Natl. Acad. Sci. U.S.A. 83 (14): 5111-5. PMC 323900. PMID 3487786.. ... "Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline". J. ...
https://www.wikidoc.org/index.php/21-hydroxylase_deficiency_pathophysiology
*  KAKEN - Research Projects | Regulation of ectopic expression of HLA class II genes. (KAKENHI-PROJECT-01480192)
Publications] Urabe,K.Kimura,A.,Harada,F.,Iwanaga,T.,Sasazuki,T.: 'Gene conversion in steroid 21-hydroxylase genes.' Am.J.Human ... Publications] Urabe, K., Kimura, A., Harada, F., Iwanaga, T., Sasazuki, T.: 'Gene conversion in steroid 21-hydroxylase genes.' ... 21. 2341-2347 (1991). *. Description. 「研究成果報告書概要(和文)」より ... 21. 2341-2347 (1991). *. Description. 「研究成果報告書概要
https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-01480192/
*  Autoimmune Addison's Disease: Genetic Aetiology and Pathophysiology | Springer for Research & Development
Identification by molecular cloning of an autoantigen associated with Addison's disease as steroid 17 alpha-hydroxylase. Lancet ... Steroid 21-hydroxylase gene polymorphism in Addison's disease patients. Tissue Antigens. 1995;46(1):63-7.PubMedCrossRefGoogle ... Adrenal cortex and steroid 21-hydroxylase autoantibodies in children with organ-specific autoimmune diseases: markers of high ... The primary autoantigen in AAD is the steroid 21-hydroxylase (21-OH) enzyme and antibodies directed against it can be detected ...
https://rd.springer.com/chapter/10.1007/978-3-319-62470-9_4
*  Adrenal Insufficiency | SpringerLink
Serum adrenal steroid concentrations in premature infants. J Clin Endocrinol Metab. 1989;69:1133-6.PubMedCrossRefGoogle Scholar ... Sonino N. The use of ketoconazole as an inhibitor of steroid production. N Engl J Med. 1987;317(13):812-8.PubMedCrossRefGoogle ... The effect of o,p'-DDD on adrenal steroid replacement therapy requirements. Clin Endocrinol. 1987;27(4):437-44.CrossRefGoogle ... Alterations of adrenal steroid patterns in man resulting from treatment with a chemical inhibitor of 11Β-hydroxylation. J Clin ...
https://link.springer.com/chapter/10.1007/978-3-319-73782-9_13
*  adrenal benign rest tumor 2005:2010 - BioMedLib™ search engine
A1.4.1.2.1.9.1. Steroid. A1.4.1.2.1.9.2. Eicosanoid. A1.4.1.2.2. Inorganic Chemical. A1.4.1.2.3. Element, Ion, or Isotope. A1.4 ... Hereby, we present an unusual case of a 19-year-old patient with CAH due to 11β-hydroxylase deficiency, who presented with ... Conclusion: 11oxC19 steroids and PregS might serve as clinically useful biomarkers of disease control and long-term ... Cites] J Steroid Biochem Mol Biol. 2017 Jan;165(Pt B):396-406 [27544322.001] ...
http://bmlsearch.com/?kwr=adrenal%20benign%20rest%20tumor%202005:2010