Results 121 to 130 of about 4,947 (206)

Functional polymorphisms in the CYP3A4, CYP3A5, and CYP21A2 genes in the risk for hypertension in pregnancy [PDF]

, 2010
An intronic single nucleotide polymorphism (SNP) in the CYP3A5 gene (CYP3A5*3; SNP rs776746) affects RNA splicing and enzymatic activity. The CYP3A5*3 frequency increased with distance from the equator and natural selection has been proposed to explain ...
Alonso, Belén, Corao, A.I. (Ana), Coto, Eliecer, Díaz, Marta, López, Carlos, Marín, Rafael, Ortega, Francisco, Ortiz, Alberto, Ruiz-Ortega, Marta, Tavira, Beatriz, Álvarez, Victoria   +10 more
core  

Genetics of 21-OH Deficiency and Genotype–Phenotype Correlation: Experience of the Hellenic National Referral Center

Current Issues in Molecular Biology
21-hydroxylase deficiency (21-OHD) represents the most common form of congenital adrenal hyperplasia (CAH) due to CYP21A2 gene pathogenic variants. Τhe aim of this study was the identification of CYP21A2 variants in 500 subjects of Greek origin with a ...
Irene Fylaktou, Anny Mertzanian, Ioanna Farakla, Alexandros Gryparis, Ioannis Anargyros Vasilakis, Maria Binou, Evangelia Charmandari, Christina Kanaka-Gantenbein, Amalia Sertedaki   +8 more
doaj   +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, Roig, Rosa||, Martínez Figueroa, Susana||, Rives, Jose, Urgell, Eulàlia||, Espinós, Juan José||, Tirado Capistros, Mireia||, Carreras, Gemma||, Aulinas, Anna||, Webb, Susan||, Corcoy i Pla, Rosa||, Blanco Vaca, Francisco||, Tondo, Mireia||   +12 more
openaire   +1 more source

CYP21A2 Gene [PDF]

, 2020
openaire   +1 more source

CYP21A2 wt Allele [PDF]

, 2020
openaire   +1 more source

Адреногенітальний синдром: молекулярні механізми розвитку [PDF]

, 2017
На довгому, багатоступінчастому шляху біосинтезу стероїдних гормонів від холестеролу до кортизолу, тестостерону й естрадіолу внаслідок мутацій генів виникає недостатність ферментів стероїдогенезу в надниркових залозах: холестерол-десмолази, 3β ...
Пішак, Василь Павлович, Ризничук, Мар'яна Олександрівна   +1 more
core  

Management of the Adult with Congenital Adrenal Hyperplasia [PDF]

, 2010
Richard J. Auchus
core   +1 more source

Comprehensive Mutation Analysis of the CYP21A2 Gene

The Journal of Molecular Diagnostics, 2013
Xu, Zhi, Chen, Wuyan, Merke, Deborah P., McDonnell, Nazli B.   +3 more
openaire   +1 more source

Врожденная дисфункция коры надпочечников: поиск мутаций в гене CYP21A2

Вестник Башкирского университета, 2013
Мутации в гене CYP21A2, кодирующем фермент 21-гидроксилаза, являются причиной развития одного из наиболее распространенных наследственных заболеваний, врожденной дисфункции коры надпочечников (ВДКН). Более 90% случаев данного заболевания связано с нарушениями функционирования данного фермента.
openaire   +1 more source

Severe Clinical Manifestation of a Salt Wasting Form of Congenital Adrenal Hyperplasia Harboring a Complex Genotype. [PDF]

Case Rep Endocrinol
Fylaktou I, Tsinopoulou VR, Sertedaki A, Kanaka-Gantenbein C, Galli-Tsinopoulou A.   +4 more
europepmc   +1 more source