Results 101 to 110 of about 3,461 (195)
Functional studies of novel CYP21A2 mutations detected in Norwegian patients with congenital adrenal hyperplasia [PDF]
, 2014 In about 95% of cases, congenital adrenal hyperplasia (CAH) is caused by mutations in CYP21A2 gene encoding steroid 21-hydroxylase (21OH). Recently, we have reported four novel CYP21A2 variants in the Norwegian population of patients with CAH, of which p.
Wolff, Anette Susanne Bøe +7 more
core +1 more source
Association of EX 7 (V281L) mutation in CYP21A2 gene with HLA haplotypes in the Croatian population [PDF]
, 2015 U ovom radu analizirana je učestalost mutacije gena CYP21A2 u egzonu 7 (V281L) unutar skupine zdravih ispitanika pozitivnih za jedan ili kombinaciju alela (A*33:01, B*14:02, DRB1*01:02, DRB1*03:01) (N=177), kao i skupine ispitanika negativnih za navedene
Zvečić, Sabina
core
Inhibitory effect of POMC siRNA on the expression of CYP17A1 and CYP21A2 promoted by GIP.
, 2014 H295R cells were treated and fixed as in Figure 5B. (A) Immunostaining for CYP17A1. Red staining shows the anti-CYP17A1 antibody, green staining shows the anti-FLAG antibody and blue staining shows DAPI (cell nuclei). (B) Immunostaining for CYP21A2.
Hiroko Fujii (647809) +9 more
core +1 more source
Egyptian Journal of Medical Human GeneticsBackground 21-hydroxylase deficiency is present in 90–95% of cases of congenital adrenal hyperplasia (CAH). Eleven major pathogenic variants account for 93% of all identified variants in the CYP21A2 gene in various clinical forms of the disease.
Natalia Osinovskaya +8 more
doaj +1 more source
Mechanistic Studies of Two Steroidogenic Cytochromes P450, CYP17A1 and CYP21A2
, 2012 Human CYP17A1 (P450c17 or 17alpha-hydroxylase/17,20-lyase) is a member of the P450 superfamily of proteins. This enzyme is responsible for hydroxylating the 17-position of pregnenolone or progesterone and cleaving the 17,20-carbon,carbon-bond of its ...
Yoshimoto, Francis Kiichi Iida
core
, 2009 BACKGROUND: More than 90% of the cases of Congenital Adrenal Hyperplasia (CAH) are associated with mutations in 21-hydroxylase gene (CYP21A2). Up to now, large CYP21A2 rearrangements have been mainly detected by Southern blot analysis, although more ...
TOSCANO, Vincenzo +9 more
core +1 more source
Comprehensive Genetic Testing of CYP21A2
The most common form of congenital adrenal hyperplasia (CAH) results from a deficiency of the 21-hydroxylase enzyme (21-OHD), presenting with a broad spectrum of clinical phenotypes according to the CYP21A2 gene mutations. Of the 59 patients with suspected CAH, 62.7% presented a positive genetic result.
Nan, Madalina Nicoleta +12 more
openaire +1 more source
, 2013 More than 90\% of congenital adrenal hyperplasia (CAH) cases are associated with mutations in the 21-hydroxylase gene (CYP21A2) in the HLA class III area on the short arm of chromosome 6p21.3.
Mello E +13 more
core +1 more source
Effects of GIPR activation on the expression of CYP17A1 and CYP21A2.
, 2014 H295R cells were transiently transfected with the empty vector or human GIPR expression vector. After 48 h, the cells were treated with or without GIP (10−7 M) for 48 h under growth conditions, and fixed with 4% paraformaldehyde.
Hiroko Fujii (647809) +9 more
core +1 more source