Results 31 to 40 of about 26,513 (179)

Direct molecular diagnosis of CYP21A2 point mutations in Macedonian and Serbian patients with 21-hydroxylase deficiency [PDF]

Journal of Medical Biochemistry, 2015
Background: Steroid 21-hydroxylase deficiency is present in 90-95% of all cases with congenital adrenal hyperplasia (CAH), an autosomal recessive disorder.
Anastasovska Violeta, Milenković Tatjana, Kocova Mirjana   +2 more
doaj  

Autoantibodies against Cytochrome P450 Side-Chain Cleavage Enzyme in Dogs (Canis lupus familiaris) Affected with Hypoadrenocorticism (Addison's Disease). [PDF]

PLoS ONE, 2015
Canine hypoadrenocorticism likely arises from immune-mediated destruction of adrenocortical tissue, leading to glucocorticoid and mineralocorticoid deficiency.
Alisdair M Boag, Michael R Christie, Kerry A McLaughlin, Harriet M Syme, Peter Graham, Brian Catchpole   +5 more
doaj   +1 more source

Comparison of Cholesterol Lowering Diets: Apple, Casein Cytochrom P450 protein and Cholesterol 7α Hydroxylase Activities in Hamsters

, 2010
Lithogenic diet, casein and apple fiber diets were fed to hamsters for 3-5 weeks. For control group, animals were fed on normal Purina chow without any supplement.
Rakesh Sharma, Rakesh K. Tandon, Rakesh Sharma, Rakesh Tandon   +3 more
core   +1 more source

Steroid 21-hydroxylase is a major autoantigen involved in adult onset autoimmune Addison's disease

, 1992
An adrenal-specific protein reacting with autoantibodies in the sera of patients with adult onset Addison's disease has been purified from human adrenal glands. The protein, mol.wt.
J.A. Craft, S. Fowler, Craft, J.A., A. Baumann-Antczak, Furmaniak, J., Krishnan, H., Smith, B.Rees, J. Furmaniak, Baumann-Antczak, A., Bednarek, J., Y. Kiso, Kiso, Y., Fowler, S., N. Wedlock, Wedlock, N., H. Krishnan, B.Rees Smith, J. Bednarek   +17 more
core   +1 more source

The value of serum levels of dehydroepiandrosterone sulfate as a screening test for late-onset congenital adrenal hyperplasia [PDF]

Einstein (São Paulo), 2006
Objective: To evaluate the use of serum level of dehydroepiandrosteronesulfate as a screening test for late-onset congenital adrenal hyperplasia.Methods: Fourteen hirsute women with elevated serum levels ofdehydroepiandrosterone sulfate, 17 hirsute women
Marcos Yorghi Khoury, Edmund Chada Baracat, Dolores Perovano Pardini, Rita de Cássia Castro, Odilon Victor Porto Denardin, Geraldo Rodrigues de Lima   +5 more
doaj  

Integration of Adjunctive Therapy for Congenital Adrenal Hyperplasia

Children
CAH represents a prototypical enzyme deficiency disorder, most commonly affecting steroid 21-hydroxylase, in which the critical adrenal pathway from cholesterol to cortisol is blocked [...]
Phyllis W. Speiser
doaj   +1 more source

Papulocistic lesions of the face: the tip of the iceberg

Senses and Sciences, 2015
Acne is a manifestation of hormonal overstimulation of the pilosebaceous units of genetically susceptible individuals and may manifest in the form of comedonic, papulopustular or nodular lesions. It can present as an isolated disease or in the context of
Nevena Skroza, Sara Zuber, Ersilia Tolino, Ilaria Proietti, Nicoletta Bernardini, Riccardo Pampena, Veronica Balduzzi, Giorgio La Viola, Concetta Potenza   +8 more
doaj   +1 more source

Congenital adrenal hyperplasia with homozygous and heterozygous mutations: a rare family case report

BMC Endocrine Disorders, 2022
Background Congenital adrenal hyperplasia (CAH), characterized by defective adrenal steroidogenesis, is transmitted in an autosomal recessive manner. Mutations in the steroid 21-hydroxylase gene CYP21A2 causing steroid 21-hydroxylase deficiency account ...
Tiantian Cheng, Jing Liu, Wenwen Sun, Guangyao Song, Huijuan Ma   +4 more
doaj   +1 more source

The Steroid Catabolic Pathway of the Intracellular Pathogen Rhodococcus equi Is Important for Pathogenesis and a Target for Vaccine Development [PDF]

, 2011
Rhodococcus equi causes fatal pyogranulomatous pneumonia in foals and immunocompromised animals and humans. Despite its importance, there is currently no effective vaccine against the disease. The actinobacteria R.
Hessels G. I., L. Dijkhuizen, Dijkhuizen, L.,, R van der Geize, Grommen A. W. F., G. I. Hessels, R. van der Geize, Grommen, A.W.F.,, L Dijkhuizen, Geize, R. van der,, Dijkhuizen, L., Hessels, G. I., A W F Grommen, Grommen, A. W. F., Jacobs, A.A.C.,, A A C Jacobs, Dijkhuizen, L.; id_orcid, A. A. C. Jacobs, Jacobs, A. A. C., Dijkhuizen L., van der Geize, R., G I Hessels, Jacobs A. A. C., Hessels, G.I.,, A. W. F. Grommen, van der Geize R.   +25 more
core   +1 more source

MUTATIONAL SPECTRUM OF THE STEROID 21-HYDROXYLASE GENE [PDF]

Pediatric Research, 1993
Lesions in the gene encoding steroid 21-hydroxylase (CYP21) result in defective adrenal steroid synthesis; the severe forms are known as congenital adrenal hyperplasia. To facilitate.complete characterization of mutations in this region of landemly repeated genes, we have developed selective PCR amplification and direct sequencing of full-length ...
A Wedell, E M Ritzén, H Luthman
openaire   +1 more source